Birth defect 2014

PRE-EMBYRONIC STAG <4 WEEKS
 First cell division 30 hours
 Zygote reaches uterine cavity 4 days
 Implantation 5-6 days
 Bilminar disc 12 days
 Lynozation of female 16days
 Fromation of trilminar disc 19 days
and primitive streak

Embryonic stage 4-12 weeks
 ORGANOGENESIS 4-8 WEEKS
 BRAIN & SPINAL CORD ARE FORMING 4 WKEEKS
 FIRST SING OF HEART BEAT & LIMB BUDS 6 WEEKS
 BRAIN,EYES, HEART & LIMBS – DEVELOP RAPIDLY
 BOWEL AND LUNG BEGINNING TO DEVELOP
 DIGITS APPEARED, EARS,KIDNEYS,LIVER & 8 WEEKS
MUSCLES ARE DEVELOPING.
PALATE CLOSES AND JOINT FORM 10 WEEKS
SEXUAL DIFFERENTIATION ALMOST COMPLETE 12 WEEKS

Deformation
External force causing distortion of an otherwise normal structure is called
deformation
Because of intrauterine crowding - as with multiple fetal pregnancy
Amniotic fluid leakage
Ex – Hip dislocation, Talipes equinovarus.
Deformation carry good prognosis

Disruption
Damage or dissolution of a part following normal development of body part
Ex - Amniotic band, thromboembolic episode.

Dysplasia
Morphological defects due to abnormal maturation and organization of cells into
Tissue is known as dysplasia.
Ectodermal dysplasia – abnormal skin, hair, nail and teeth.
Skeletal dysplasia - spondyloepipyseal dysplasia

Malformation
Morphological defects occur due to error in the normal development
And differentiation of embryo is known as malformation.
Type of malformation
Sequence
Syndrome
Association
14% minor
3% two or >2 malformation
3% single major malformation
0.7% multiple malformation
Minor malformation : they do not cause any function defect
Major malformation : If malformation left uncorrected leads to
Significant Impairment of body function

Sequence
The chain of events resulting in multiple defect –
Chronic leakage of amniotic fluid or less production of amniotic fluid leads
To fetus compression –
Potter sequence -squashed face, dislocation of hip
talipes equinovarus, pulmonary hypoplasia.
Pierre- Robin sequence- Microganthia, Tongue fall back and prevent closure
palate, leading to cleft palate.

Syndrome
Co-occurrence of several distinct abnormalities(group of features)
definitely or presumably if
caused by same etiological factor in all affected individuals
Is known as syndrome.

Association
Co-occurrence of group of malformations, more frequently
Than expected by chance, without definite cause is called association.
VATER - VERTEBRAL, anal, tracheal, oesophageal and renal
CHARGE - coloboma, heart, atresia choanae, retarded growth, genital
and ear malformation

FETAL STAGE >12 – 38 WEEKS
 FETAL MOVEMENT 16-18 WEEKS
 EYELIDS OPEN 24-26 WEEKS
 FETUS VIABLE WITH SPECIAL CARE 24-26 WEEKS
 RAPID WEIGHT GAIN 28-28 WEEKS

BIRTH DEFECT
 A BIRTH DEFCT IS DEFIND AS THE MARCH OF
DIMES IS “ FUNCTIONAL OR STRUCTURAL”, THAT
PRESENT IN INFANCY OR LATER IN LIFE AND IS
CAUSED BY EVENTS PRECEDING BIRTH WHETHER
INHERITED OR ACQURIED.

BIRTH DEFECTS
DEFINED
AS AN ABNORMALITY OF
THE BODY’ STRUCTURE
OR INHERENT
FUNCTION IN
LIVE BORN
FETUS, INTRAUTERINE
FETAL DEMISES,
STILL BIRTH
AND
IN MEDICALLY
TERMINATED
PREGNANCIES.
WHICH IS PRESENT AT
BIRTH , WHETHER SUCH
ABNORMALITY IS
MANIFEST AT THE
DELIVERY OR BECOME
APPARENT
LATER IN LIFE.

BIRTH DEFECT
1. Congenital malformation :- It is a primary structural defect
arising from a localised error in morphogenesis,resulting in
the abnormal formation of a tissue or organ.
2. Disruption : :- It is a structural defect resulting from the
destruction of a structure that had formed normally before
the insult such as - ischemia, infection & trauma.
3. Deformation : is a defect resulting from an abnormal
mechanical forces that distorts an otherwise normal
structure.
4. Dysplasia: is an abnormal orgination of cells into tissue.
Most dysplasia are cause by sinle gene defects & are
associated with high recurrence risk for sibling &/or
offspring

 It is estimated that 1 in 40 or 2.5% of new born have a
recongisable malformations at birth.
 In a about half of case a single isolated malformations and
other half display multiple malformations.
 It is estimated that 10% of paediatric hospital admission
have a non-genetic condition, 18% have congenital defect
of unknown etiology and 40% have surgical admission are
patient with congenital malformations.
 20-30% of infant death and 30-50% death after the
neonatal period are due to congenital abnormalities.
 When several malformation occurred in a single
individual they are classified a syndrome, sequences or
association.

3. Deformation :- It is an alteration in shape or structural of a structure or organ that
has differentiated normally.
Uterine compression
Intrinsic
Oligohydramnios
Uterine hypertonia
Multiple foetuses
Large fetus
Uterine deformities
(biocornate)
Extrinsic
Small pelvis
Bony lumbar spines
Increased abdominal tone
Abnormal fetal posture
(including breech)
Abnormal fetal
Muscular tone
Increased mechanical forces
Fetal constraint
Deformations
Craniofacial Extremity Other
Scaphocephaly Dislocated hips Torticollis
Plagiocephaly Metatarsus adductus Lung hypoplasia
Mandibular asymmetry Equinovarus foot Scoliosis
Flattened facies Calcaneovalgus foot
Deviated nasal septum Tibial bowing
Crumpled ear Hyperflexed hips
Craniostenosis Hyperextended knees
Contractures
Internal tibial torsion

DEATHS DUE TO BIRTH DEFECTS
• CHROMOSOMAL
• CNS
• RESPIRATORY
• CHD
28% 15%
15%12%

What causes birth defects?
Birth defects have a variety of causes, such as:
Genetic problems -caused when one or more
genes doesn't work properly or part of a gene is
missing
Problems with chromosomes- such as having an
extra chromosome or missing part of a
chromosome
Environmental factors- that a woman is exposed
to during pregnancy, such as rubella or German
measles while pregnant, or using drugs or alcohol
during pregnancy.

• GENETIC –
CHROMOSOMAL
ANOMALY
• MATERNAL
ILLNESS ,DRUGS
AND INFECTION
• MULTIFACTORIAL• SPORADIC
40-60% 20-25%
12-25%10-13%

MOLECULAR MECHANISMS OF MALFORMATIONS:
Inborn Errors of Development
The gene mutation in malformation syndrome are key factor for
development events.
Gene mutation
Environmental agent Teratogenes
Transduction pathway Transcription pathway
Regulatory Protein
Development Events

Genetic factors A gene is a tiny, invisible unit containing
information (DNA) that guides how the body forms and functions.
Each child gets half of its genes from each parent, arranged on 46
chromosomes. Genes control all aspects of the body, how it works,
and all its unique characteristics, including eye color and body size.
Genes are influenced by chemicals and radiation, but sometimes
changes in the genes are unexplained accidents.
In each pair of genes, one will take precedence (dominant) over the
other (recessive) in determining each trait, or characteristic.
Birth defects caused by dominant inheritance include a form of
dwarfism called achondroplasia; high cholesterol; Huntington's
disease, a progressive nervous system disorder; Marfan syndrome,
which affects connective tissue; some forms of glaucoma, and
polydactyly (extra fingers or toes).

If both parents carry the same recessive gene, they have a
one-in-four chance that the child will inherit the disease.
Recessive diseases are severe and may lead to an early
death. They include sickle cell anemia, a blood disorder
that affects blacks, and Tay-Sachs disease, which causes
mental retardation in people of eastern European Jewish
heritage. Two recessive disorders that affect mostly
are: cystic fibrosis, a lung and digestive disorder,
and phenylketonuria (PKU), a metabolic disorder.
If only one parent passes along the genes for the disorder,
the normal gene received from the other parent will
prevent the disease, but the child will be a carrier. Having
the gene is not harmful to the carrier, but there is the 25%
chance of the genetic disease showing up in the child of
two carriers.

Some disorders are linked to the sex-determining
chromosomes passed along by parents.
Hemophilia, a condition that prevents blood from
clotting, and Duchenne muscular dystrophy,
which causes muscle weakness, are carried on the
X chromosome.
Genetic defects can also take place when the egg
or sperm are forming if the mother or father
passes along some faulty gene material. This is
more common in older mothers. The most
common defect of this kind is Down syndrome, a
pattern of mental retardation and physical
abnormalities, often including heart defects,
caused by inheriting three copies of a
chromosome rather than the normal pair.

A less understood cause of birth defects results from the interaction
of genes from one or both parents plus environmental influences.
These defects are thought to include:
Cleft lip and palate, which are malformations of the mouth
Clubfoot, ankle or foot deformities.
Spina bifida, an open spine caused when the tube that forms the
brain and spinal chord does not close properly.
Water on the brain (hydrocephalus), which causes brain damage.
Diabetes mellitus, an abnormality in sugar metabolism that
appears later in life.
Congenital Heart defects

DRUGS (TERATOGENS)
Only a few drugs are known to cause birth defects, but all have the potential
to cause harm. Thalidomide is known to cause defects of the arms and legs.
Steroid cleft lip & palate
Lithium Ebstein’s anomaly
Retinoic acid Conotruncal anomaly
Valproic acid Coarctation of
forta,HLHS,PA
Carbamazepin,valporic acid Spina bifida
radiation Microcephaly, spina bifida,
blindness,cleft palate
Drugs Birth defects
Hyperthermia Spina bifida
Warfarin Hypoplastic nasal
bone,skeletal dysplasia
Vitamin D Supravuvular aortic stenosis
D penacillamine Cutis laxa syndrome

The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is
responsible for converting folic acid to 5-methyltetrahydrofolate. 5-
methyltetrahydrofolate serves as a methyl group donor in the
conversion of homocysteine to methionine.
This methylation is important in providing carbon units to rapidly
dividing cells and the synthesis of nucleotide bases. Thus, folic acid
deficiency would result in a neural tube defect.
Moreover, if there is a mutation in the gene regulating MTHFR,
homocysteine will not get converted to methionine and affected
individuals will have neural tube defect.
Increase folic acid intake can overcome the neural tube defect
due to genetically mediated enzyme deficiency.

Now with control of infections in neonates,
BIRTH DEFECTS
are becoming an important cause of perinatal mortality in india.
If perinatal mortility is to be reduced further one should reduce
birth defects at an early stage that is when fetus is in the age of
nonsurvival or by planning birth of such babies at tertiary care
centres dedicated for care of such babies.
THIS IS POSSIBLE BY FETAL MEDICINE.

E.g. Sonic Hedgehog as model :- The SHH pathway is developmentally important during
embryogeneous to induce controlled proliferation in a tissue specific manner, disruption of specific
steps in this pathway results in a variety of related developmental disorder and malformation.
1Sonic Hedgehog of
2Cleavage
N-Shin
Cholesterol
N-Shin-Chol
Holoprosencephaly1
Microcephaly
Mental retardation
Failure of CNS
lateralization
Hypotelorism ti
Smith-Lemil-Opitz Syndrome2
Microcephaly
Mental retardation
Short, Upturned nose
Hypospadias
Post axial prolydactyly
Pallister-Hall
Syndrome3
Hypothalamic
hamartoma
Short, upturned nose
Central and postaxial
polydactyly
Bild epiglottis
Greig Greig
Cephalopolysyndactyly
syndrome4
Macrocephaly
Hypertelorism
Pre and postaxial polydactyly
Rubinstein-Taybi
Syndrome5
Microcephaly
Mental retardation
Prominent beaked nose
Broad thumbs
Hirsutism
GLI-1 GLI-2
4GLI-3.5CBP GLI1
PTC1 Twist
HNF3β

The birth defects are groups according to ICD-10
classification:
(Q00-Q07) nervous system,
(Q10-Q18) eye, ear, face and neck,
(Q20-Q28) circulatory system,
(Q30-Q34) respiratory system,
(Q35-Q37) cleft lip and cleft palate,
(Q38-Q45) digestive system,
(Q50-Q56) genital organs,
(Q60-Q64) urinary system,
(Q65-Q79) musculoskeletal system,
(Q80-Q89) other defects and
(Q90-Q99) chromosomal abnormalities, not elsewhere
classified.

Nervous system:
(740) Anencephalus and similar anomalies
(740.0) Anencephalus
(741) Spina bifida
(742) Other congenital anomalies of nervous system
(742.1) Microcephalus
(742.3) Hydrocephalus

TYPES OF CONGENITAL MALFORMATIONS
1. Central Nervous System
• Neural Tube defects
• Spina bifida
• Meningocele
• Meningomyelocele
• Encephalocele
• Anencephaly
• Hydrocephalus and ventriculomegaly
• Holoprosencephaly
• Agenesis of the corpus collosum
• Dandy-Walker complex
• Microcephaly
• Megalencephaly
• Destructive cerebral lesions
• Arachnoid cysts
• Choroid plexus cysts
• Vein of Galen aneurysm
2. Face
• Orbital defects
• Facial cleft
• Micrognathia
• Ear defects

3. Cardiovascular system
• Atrial septal defects
• Ventricular septal defects
• Atrioventricular septal defects
• Univentricular heart
• Aortic stenosis
• Coarctation and tubular hypoplasia of the aorta
• Interrupted aortic arch
• Hypoplastic left heart syndrome
• Pulmonary stenosis and pulmonary atresia
• Ebstein’s anomaly and tricuspid valve dysplasia
• Conotruncal malformations
• Transposition of the great arteries
• Tetralogy of Fallot
• Double-outlet right ventricle
• Truncus arteriosus communis
• Cardiosplenic syndromes
• Echogenic foci

4. Pulmonary abnormalities
• Cystic adenomatoid malformation
• Diaphragmatic hernia
• Pleural effusions
• Sequestration of the lungs
5. Anterior abdominal wall
• Exomphalos
• Gastroschisis
• Body stalk anaomaly
• Bladder exstrophy and cloacal exstrophy
6. Gastrointestinal tract
• Esopageal atresia
• Duodenal atresia
• Intestinal obstruction
• Hirschsprung’s disease
• Meconium peritonitis
• Hepatosplenomegaly
• stenosis and imperforate
• Hepatic calcifications
• Abdominal cysts

7. Kidneys and urinary tract
• Renal agenesis
• Infantile polycystic Kidney disease (Potter type I)
• Multicystic dysplastic kidney disease (Potter type II)
• Potter type III renal dysplasia
• Obstructive uropathies
8. Skeleton
• Skeletal anomalies
• Osteochondrodysplasias
• Limb deficiency or congenital amputations
• Split hand and foot syndrome
• Clubhands
• Polydactyly
• Fetal akinesia deformation sequence (FADS)
9. Hydrops fetalis

How we should approach for detection of
Congenital Malformations ?
CLINICAL EVALUATION
1.By History :-
(i) Pedigree analysis
(ii) Parental ages at the time of conception
(iii) Parental consanguinity
(iv) History of abortions
(v) Still birth and exposure to the drug teratogens
(vi) Maternal disorders and infections

2. By Examinations :-
A good observation is essential to recognize the
malformations.
(i) The defects produced due to an abnormality of a
development of a body part early in the prenatal life eg.
Cleft lip and palate and polydactyly and holoprosencephaly.
(ii) Anthropometry is important as is the measurement of
any other relevant dysmorphic feature eg.
Hypo/hypertelorism, low set ears etc.
(iii) Look for the presence of abnormal genitalia or delayed
puberty e.g. Smith Lemi Optiz syndrome, Tumer syndrome
etc.
(iv) Look for the presence of abnormal genitalia or delayed
puberty, e.g. Smith Lemi Optiz syndrome, Tumer syndrome
etc.

INVESTIGATIONS:-
1. Chromosomal analysis :-
• Karyotype analysis e.g. Down syndrome
• Fluorescent in situ hybridization (F.I.S.H.) e.g.
William syndrome, Prader Willi syndrome,
Angelman syndrome, Velocardiofacial syndrome.
• PCR studies
• Micro-array technology
2. Imaging studies (CT, MRI) e.g. CNS malformations
3. Echo done in all cases of Down syndrome and
velocardio facial syndrome.
4. Metabolic study particularly in (amino acids and
organic acids) e.g. like Mucopolysaccharidosis,
Zellweger syndrome, Smith Lemli Opitz syndrome

(v) Psychomotor delay, speech delay or mental retardation
are common feature many syndrome e.g. down syndrome,
Fragile-X syndrome.
(vi) Examination of presence of hearing loss and
abnormalities of the eye are essential in dysmorphogical
examination. It provides diagnostic clues for some
syndromes like chorioretinal lacunae in Aicardi syndrome,
Brusfield spots in Down syndrome.
(vii) Some clinical features suggest a specific diagnosis. These
features have been termed as

“Pearls of Dysmorphology” by Hall?
 Pursed up lips – Whistling face syndrome
 Broad thumbs/great toes – Rubinstein Taybi syndrome, Pfeiffer
syndrome.
 Radial ray defects – Holt Oram syndrome, Thrombocytopenia absent
radius syndrome, Fanconi anemia.
 Absent clavicles – Cleidocranial dysostosis.
 Heterochromia iridis – Waardenburg syndrome
 Mitten hands – Apert syndrome
 Inverted nipples – Congenital disorder of glycosylation.
 Webbing of the neck – Turner and Noonan syndromes.
 Eversion of the lateral third of the lower eyelid – Kabuki Make-up
syndrome.
 Hyper extensibility of skin and joins – Ehlers Danlos syndrome.

CNS
AT 7 WEEKS
FLUID FILLED
VESICLE SEEN –
ROMBENCEPHALIC
VESICLE
AT 9 WEEKS
CONVULATED
PATTERN OF THE
THREE PRIMARY
CEREBRAL VESICLE
IS VISIBLE.
AT 11 WEEKS
BRIGHT ECHOGENIC
CHOROID PLEXUS
FILL LARGE LATERAL
VENTRICLES.

A simple classification of anomalies of brain & spine is as follows:
Failure of dorsal induction:
1. Anomaly of cranial development failure:
Anaencephaly, cephalocele
Chiari malformation
Dysraphism
2.Anomaly of ventral induction failure:
Holoprosencephalies
Facial abnormalities
Posterior fossa malformation: Dany –Walker malformation,Joubert
syndrome , Rhomboenvephalosynapsis.
3.Failure of histogenesis, neuronal proliferatio, migration &
organization
Disorder of sulcation & cell migration: lissencephalic &
nonlissencephalic dysplasia.
Gray mater hetrotropia
Cortical dysplasia- schizencephaly
Abnormalities of corpus callosum
Phakomatosis -

• RECURRENCE RISK IF
ONE PARENT OR
PREVIOUS SIB HAVE
NTD
• RECURRENCE
RISK IN NEXT SIB
• ENCEPHALOCELE
• ANENCEPHALY
• SPINA BIFIDA
95% 5%
5-10%2-4/1000

NEURAL TUBE DEFECTS
RACHICHISIS
SEVERE FORM OF SPINA
BIFIDA.
INCOMPATIBLE WITH
LIFE
MENINGOMYELOSIS
COMMON TYPE
FEW SEGMENT BIFID
SPINA BIFIDA OCCULTA
ONLY BONE BIFID
TELL-TALE SIGN MAY
BE SEEN

CNS malformation
1. NEURAL TUBE DEFECTS
Classification
A.Primary NTD -95 % failure of closure of neural tube at
17 to 28 days of gestation
-Meningomyelocele
-Encephalocele
-Anencephaly
B.Secondary NTD -5% occurs after neural tube closure due
to defect in mesoderm.
-meningocele
-Lipomeningocele
-Diastometomyelia
-Dorsal sermal sinus
- Tethered cord

Etiology of NTD
1. Multifactorial inheritance
2. Maternal risk factor alcohol, radiation,
valproate, methotraxate
3. Genetic MTHFR, gene defect
4. Chromosomal abnormality Trisomy 13 & 18
PREVENTION
 Folate supplementation 0.4mg/day to all mothers 1
month before to 3 months of pregnancy.
 If there is any previous affected child than give
5mg/day.
- prenatal diagnosis in subsequent pregnancy by MSAFP estimation
and fetal ultrasound at 12 week and 16-20 week of gestation.

SPINA BIFIDA
ASSOCITED SIGN
LEMON SIGN
BANANA SIGN
FETAL THERAPY:
IN UTERO CLOSURE
OF SPINA BIFIDA
REDUCES
RISK OF HANDICAP;
BECAUSE AMNIOTIC
FLUID IN THIRD
TRIMESTER IS
NEUROTOXIC

Spina Bifida Occulta :-
 This is a midline defect of vertebral bodies without protrusion of the spinal
cord or meninges.
 Most individuals are asymptomatic and lack neurologic sign.
 In some cases, patch of hair, lipoma, discoloration of skin, dermal sinus in
the midline of lower back suggest a more significance malformations of
spinal cord.
 A Spine X-ray shows a defect in closure of posterior vertebral arches and
laminae, typically involve in L5 and S1.
 It is occasionally associated with more significant developmental
abnormalities of the spinal cord, including syringomyelia,
 Diastematomyelia and tethered cord.
 These are the best identified with MRI.
 A dermoid sinus usually forms a small skin opening, which lead to narrow
duct, some time indicated by protruding hairs, hairy patch or vascular
nervus.
 Demoid sinus occur in the midline at the sight of meningocele or
enencephalocele may occur.
 Demoid sinus tracts may pass through the dura, acting age conduit for the
spread of infection.

Meningocele
ASSOCITED SIGN
LEMON SIGN
BANANA SIGN
FETAL THERAPY:
IN UTERO CLOSURE
OF SPINA BIFIDA
REDUCES
RISK OF HANDICAP;
BECAUSE AMNIOTIC
FLUID IN THIRD
TRIMESTER IS
NEUROTOXIC

.
 Meningocele :- It is formed when the meninges
herminate through a defect in the posterior vertebral
arches.
A functuant midline mass that may transilluminate
occurs along the vertebral column, usually in the
lower back.
Asymptomatic children with normal neurological
finding and fullthickness skin covering may have
surgery delayed.
Those patients with leaking CSF should under go
immediate surgery.

MYELOMENINGOCELE
It is the most severe form of dysraphism involving the
vertebral column.
Incidence = 1/4000 live births.
Treatment :-
Management and supervision of a child and family
myelomeningocele require a multidisciplinary team including
surgeon, physician, therapisis.
Surgery is often done within a day or so of birth but can be
delay for several days when there is a CSF leak.
Prognosis :-
For a child who is born with a myelomeningocele and who is
treated aggressively mortality 10-15%.

ENENCEPHALOCELE :-
 Two major forms of dysraphism affect the skull, resulting in protrusion
of tissue through a bony midline defect, called cranium bifidum.
 A cranial meningocele consists of CSF filled meningeal sac only, and a
cranial encephalocele contain the sac + cereberal cortex, cerebellium,
portions of the brainstem.
 This defects occur most commonly in the ocipital region but in certain
part of world, frontal or nasofrontal enencephalocele are more
prominent.
Meckel-Gruber syndrome is a rare autosomal recessive condition that is
characterized by occipital enencephalocele, cleft lip or palate, microcephaly,
microphthalamia, abnormal genitalia, polycystic kidney and polydactyly.
Diagnosis MRI & CT Scan :-
Maternal serum alpha fetoprotein level and ultrasound measurement of BPD as
well as identification of enencephalocele in utero .

ANENCEPHALY
40% MORTILITY
OCCUR DURING
NEONATAL
PERIOD.
80 % OF THE
SURVIVAL WILL BE
INTELLECTUALY
AND
NEUROLOGICALLY
HADICAP
50% ARE
ASSOCIATED WITH
SPINA BIFIDA

ANENCEPHALY :-
 It is distinctive appearance with a large defect of calvarium, meninges
and scalp associated with a rudimentary brain, which results from failure
of closure of the rostral neuropore the opening of the anterior neural
tube.
 The incidence – 1/1000 live births. The most anenecephalic infants die
within several days of birth.
 The recurrence risk is 4% and increase to 10% if a couple has had two
previously affected pregnancies.
 Approximately 50% of cases of anencephaly have associated
polyhydraminos.
Diagnosis :-
Couples who have had an anencephalic infant
should have successive pregnancy monitored,
including amniocentesis, determination of
AFP levels and ultrasound examination
between the 14th and 16th week of gestation.

HYDROCEPHALUS AND VENTRICULOMEGALY
In hydrocephalus there is pathological increase in the size of the cerebral
ventricles.
Prevalence
Hydrocephalus is found in about 2 per 1,000 births. Ventriculomegaly
(lateral ventricle diameter of 10 mm or more) is found in 1% of
pregnancies at the 18-23 week scan. Therefore the majority of fetuses
with ventriculomegaly do not develop hydrocephalus.
Etiology
This may result from chromosomal and genetic abnormalities,
intrauterine hemorrhage or congenital infection, although many cases
have as yet no clear-cut etiology.
Diagnosis
Fetal hydrocephalus is diagnosed sonographically, by the
demonstration of abnormally dilated lateral cerebral ventricles.

Prognosis
Fetal or perinatal death and
neurodevelopment in survivors are strongly
related to the presence of other
malformations and chromosomal defects.
Although mild, also referred to as borderline,
ventriculomegaly is generally associated with a
good prognosis,

HOLOPROSENCEPHALYPREVALENCE : 1/10,000
BIRTHand occurs with a
rate of 1 in 250 during
embryogenesis
There are three
classifications of
holoprosencephaly. Alobar,
in which the brain has not
divided at all, is usually
associated with severe facial
deformities. Semilobar, in
which the brain's
hemispheres have
somewhat divided, causes
an intermediate form of the
disorder. Lobar, in which
there is considerable
evidence of separate brain
hemispheres, is the least
severe form. In some cases
of lobar holoprosencephaly
the baby's brain may be
nearly normal.

HOLOPROCENCEPHALYCAUSES: A variety of
teratogens, chromosomal
abnormalities (in 25-50% of
cases), and single gene
mutations can result in
holoprosencephaly. Trisomy 13
(in about 40% of cases) and
trisomy 18 are the most
frequently identified
chromosomal anomalies. Many
single-gene disorders (18-25%)
can result in syndromes with a
variable incidence of
holoprosencephaly. Examples
include Pallister-Hall,
Rubinstein-Taybi, Kallmann,
Smith-Lemli-Opitz, Meckel,
hydrolethalus, pseudotrisomy
13, and microtia -anotia
syndromes. Maternal diabetes
has been implicated in about
1% of cases.
RECURRENCE RISK 6%
ALOBAR &SEMILOBAR
-LETHAL
LOBAR : MR

ABSENT SEPTUM PELLUCIDUM
Absence of the septum
pellucidum is reported to be an
unusual anomaly that occurs in
an estimated 2 to 3 individuals
per 1 00,000 people in the
general
population Absence of the SP
alone is not a disorder but is
instead a characteristic noted in
children with septo-optic
dysplasia.
The prognosis for individuals
with septo-optic
dysplasia varies according to
the presence and severity of
symptoms

AGENESIS OF THE CORPUS CALLOSUM
PREVALENCE : 5/1000
BIRTH
Agenesis of the corpus callosum is
caused by disruption to
development of the fetal brain
between the 5th and 16th week of
pregnancy
CAUSES: However, research
suggests that some possible causes
may include chromosome errors,
inherited genetic factors, prenatal
infections or injuries, prenatal
toxic exposures, structural
blockage by cysts or other brain
abnormalities, and metabolic
disorders.
Some syndromes that frequently
include ACC are Aicardi syndrome,
Miller-Dieker syndrome (MDLS;
247200), Rubinstein-Taybi
syndrome (RSTS; 180849),
acrocallosal syndrome (ACLD;
200990), and Joubert syndrome
(JBTS; 213300). Andermann
syndrome, Shapiro syndrome,
Acrocallosal syndrome,septo-optic
dysplasia (optic nerve hypoplasia),
Mowat-Wilson syndrome and
Menkes syndrome.

DANDY WALKER SYNDROME
PREVALENCE:
1/30,000
CAUSES:
LOW RECURRENCE RISK
1-5%
13 & 18 TRISOMIES
TRIPLOIDY
50 GENETIC SYNDROME
CONGENITAL
INFECTION
WARFARIN
20 NEONATAL
MORTILITY
50% INTELLECTUAL AND
NEUROLOGICAL
HANDICAP.

DANDY WALKER SYNDROMEThere are, at present, three types of
Dandy-Walker complexes.
They are divided into three closely
associated forms:
The DWS malformation is the most
severe presentation of the
syndrome. The posterior fossa is
enlarged and the tentorium is in
high position. There is partial or
complete agenesis of the cerebellar
vermis. There is also cystic
dilation of the fourth ventricle,
which fills the posterior fossa. This
often involves hydrocephaly and
complications due to associated
genetic conditions, such as Spina
Bifida.
Mega cisterna magna
The second type is a mega cisterna
magna . The posterior fossa is
enlarged but it is secondary to an
enlarged cisterna. This form is
represented by a large accumulation
of CSF in the cisterna magna in the
posterior fossa. The cerebellar
vermis and the fourth ventricle are
normal.
.

DANDY WALKER SYNDROME
The fourth ventricle is only
mildly enlarged and there is
mild enlargement of the
posterior fossa. The cerebellar
vermis is hypoplastic and has a
variably sized cyst space. This is
caused by open communication
of the posteroinferior fourth
ventricle and the cisterna
magna through the
enlarged vallecula. Patients
exhibit hydrocephalus in 25%
of cases and supratentorial CNS
variances are uncommon, only
present in 20% of cases. There
is notorcular-
lambdoid inversion, as usually
seen in patients with the
malformation. The third and
lateral ventricles as well as the
brain stem are normal.

ARNOLD CHIARI MALFORMATION
Incidence : The Chiari
malformation, defined as
tonsilar herniations of 3 to
5 mm or greater
The incidence is approximately
1 in 1,200.The incidence of
symptomatic Chiari is less but
unknown.
A prevalence of approximately
in 1000 has been described.
The Austrian pathologist Hans
Chiari in the late 1800s
described seemingly related
anomalies of the hindbrain, the
so called Chiari malformations
I, II and III. Later, other
investigators added a fourth
(Chiari IV) malformation. The
scale of severity is rated I -
IV, with IV being the most
severe. Types III and IV are
very rare

Type Presentation Other notes
I
Is generally asymptomatic during childhood, but
often manifests with headaches and cerebellar
symptoms. Herniation of cerebellar tonsils.
The most common form.
II
Usually accompanied by a myelomeningocele leading
to partial or complete paralysis below the spinal
defect. Abnormal development of the cerebellar
vermis and medulla oblongata occur, and they both
descend into the foramen magnum. Hydrocephalus is
frequently present.
III
Causes severe neurological defects. It is associated
with an encephalocele
IV Characterized by a lack of cerebellar development.[
The brainstem, cranial nerves, and the lower portion of the cerebellum may be stretched
or compressed. Therefore, any of the functions controlled by these areas may be
affected. The blockage of Cerebro-Spinal Fluid (CSF) flow may also cause a syrinx to
form, eventually leading to syringomyelia. Chiari is often associated with major
headaches, sometimes mistaken for migraines. Chiari headaches usually include
intense pressure in the back of the head, aggravated by Valsalva maneuvers, such as
yawning, laughing, crying, coughing, sneezing or straining. Chiari also includes muscle
weakness, facial pain, hearing problems, and extreme fatigue. It also can cause
insomnia cycles of sleep deprivation followed by inabilities to remain awake cycling
between them. 15% of patients with adult Chiari malformation are asymptomatic

Treatment
Once symptomatic onset occurs, a common treatment is decompression surgery,[14] in
which a neurosurgeon usually removes the lamina of the first and sometimes the second
or even third cervical vertebrae and part of the occipital bone of the skull to relieve
pressure. The flow of spinal fluid may be accompanied by a shunt. Since this surgery
usually involves the opening of the dura mater and the expansion of the space beneath, a
dural graft is usually applied to cover the expanded posterior fossa.
A small number of neurological surgeons believe that detethering the spinal cord as an
alternate approach relieves the compression of the brain against the skull opening
(foramen magnum), obviating the need for decompression surgery and associated
trauma. However, this approach is significantly less documented in the medical literature,
with reports on only a handful of patients. It should be noted that the alternative spinal
surgery is also not without risk.
Prognosis
The prognosis differs dependent on the type of malformation (i.e., type I, II, III, or IV). Type
I is generally adult-onset and, while not curable, treatable and non-fatal. Types I and II
sufferers may also develop syringomyelia. Type II is typically diagnosed at birth or
prenatally. Approximately 33% of individuals with Chiari II malformation develop
symptoms of brainstem damage within five years; a 1996 study found a mortality rate of
33% or more among symptomatic patients, with death frequently occurring due to
respiratory failure. 15% of individuals with Chiari II malformation die within two years of
birth. Among children under two who also have myelomeningocele, it is the leading cause
of death. Prognosis among children with Chiari II malformation who do not have spina
bifida is linked to specific symptoms; the condition may be fatal among symptomatic
children when it leads to neurological deterioration, but surgical intervention has shown
promise. Types III and IV are extremely rare and patients generally do not survive past the
age of two or three

ARNOLD CHIARI MALFORMATION
Arnold Chiari Malformation:-
Type I –It is usually not associated
with hydrocephalus patient
complain of headache,neck
pain,urinary frequency and
progressive lower extremity
spasticity.The deformity consist of
displacement of cerebellar tonsil
into cervical canal. Although
pathogenesis is unknown, a theory
suggest that obstruction of caudal
portion of the IV ventrical during
fetal development is responsible.
Type II :-It is charactarised by
progressive hydrocephalus with a
myelomeningocele, pointing of
frontal horn & colpocephaly
(dialted occipital horn) .This lesion
represent and anomaly of hindbrain
probably due to failure of pontine
flexure during embriyogenesis,and
result in elongation of the IV
ventrical and kinking of the
brainstem with displacement of
inferior vermis,pons,medulla into
cervical canal.This anomaly is
treated by surgical decompression.

ARNOLD CHIERI MALFORMATION
Type III - in this there is high
cervical encephalo-
meningocele: in which the
medulla, 4TH ventricle, and
entire cerebellum reside.

AQUEDUCTAL STENOSISCongenital: Some patients are born
with a congenitally narrow or
completely obstructed aqueduct. In
complete, this usually presents as
pediatric hydrocephalus. However,
if the obstruction is more minor, the
patient may be asymptomatic or
may not present until older age. The
obstruction can appear as a general
narrowing of the aqueduct or can
appear as small webs or rings of
tissue across the channel.
Post-Infectious or Post-Hemorrhage:
Infection in the cerebrospinal fluid
or hemorrhage into the ventricles
from other causes can occasionally
lead to scarring that creates webs or
rings that cause aqueductal stenosis
and block flow through the
aqueduct.
Idiopathic Acquired: Some patients
present in adulthood with the new
onset or gradual onset of
hydrocephalus. In many cases it is
unclear what the underlying cause
of the stenosis was and is
considered idiopathic

ARACHNOID CYSTArachnoid cysts are fluid-filled cysts
contained within the arachnoid
space.
Prevalence : Arachnoid cysts are
extremely rare.
Etiology :Unknown; infectious
process has been hypothesized but
it is unlikely that this may explain
the congenital cysts.
Diagnosis : Arachnoid cysts appear
on antenatal ultrasound as
sonolucent lesions with a thin
regular outline, that do not contain
blood flow, do not communicate
with the lateral ventricles and
anyhow are not associated with loss
of brain tissue. They occur most
frequently in the area of the cerebral
fissure and in the midline. .
Prognosis : Large cysts may cause
intracranial hypertension and
require neurosurgical treatment.
However, a normal intellectual
development in the range of 80-
90% is reported by most series.
Spontaneous remission has been
described both in the postnatal as
well as in the antenatal period.

CHOROID PLEXUS CYSTPrevalence : Choroid plexus cysts
are found in about 2% of fetuses at
20 weeks of gestation but in more
than 90% of cases they resolve by 26
weeks.
Etiology : Choroid plexus cysts
contain cerebrospinal fluid and
cellular debris.
Diagnosis :The diagnosis is made
by the presence of single or multiple
cystic areas (greater than 2 mm in
diameter) in one or both choroid
plexuses.
Prognosis :They are usually of no
pathological significance, but they
are associated with an increased
risk for trisomy 18 if maternal age
>35years, serum beta hCG >
0.3MoM, nuchal fold >6mm,
echogenic bowel, hydronephrosis
and cyst > 10 mm and possibly
trisomy 21. In the absence of other
markers of trisomy 18 the maternal
age-related risk is increased by a
factor of 1.5. The choroid plexus
cyst < 10 mm sometime disappear
spontaneously.

VEIN OF GALEN MALFORMATION
Vein of Galen aneurysm is a
very rare abnormality.
Prevalence : Vein of Galen
aneurysm is a sporadic
abnormality.
Diagnosis : The diagnosis is
made by the demonstration of a
supratentorial mid-line
translucent elongated cyst.
Prognosis : In the neonatal
period about 50% of the infants
present with heart failure and
the rest are asymptomatic. In
later life hydrocephalus and
intracranial hemorrhage may
develop.
Good results can be
achieved by
catheterization and
embolization of the
malformation.

LISSENCEPHALY
Lissencephaly, which
literally means smooth
brain, is a rare brain
formation disorder caused
by defective neuronal
migration during the 12th to
24th weeks of gestation,
resulting in a lack of
development of brain folds
(gyri) and grooves (sulci). It
is a form of cephalic
disorder. Terms such as
'agyria' (no gyri) or
'pachygyria' (broad gyri) are
used to describe the
appearance of the surface of
the brain. Affected children
display severe psychomotor
retardation, failure to
thrive, seizures, and
muscle spasticity or
hypotonia.[

LISSENCEPHALY
Other symptoms of the
disorder may include
unusual facial
appearance, difficulty in
swallowing, and
anomalies of the
hands, fingers, or toes.
The diagnosis of
lissencephaly is usually
made at birth or soon
after
by ultrasound, computed
tomography (CT),
or magnetic resonance
imaging (MRI).

category type
Classical (type 1) LIS: Lissencephaly due to PAFAH1B1 gene
mutation
Type I isolated lissencephaly (601545
Miller –dicker syndrome(247200)
LI SX : lissencephaly due to double
cortin(DCX) gene mutation(330121)
Lissencephaly type I without genetic
disorder
Cobblestone (type 2) Walker –Warburg syndrome(236670)
Fukuyama syndrome (253800)
Muscle Eye Brain disease (MEB)253280
other LIS2: Norman –Robert syndrome 253280
LIS3: TUBA1A, 611603
LISX2 : ARX, 300215
MICRO-LISSENCEPHALY

DESTRUCTIVE CEREBRAL LESIONS
Prevalence :
Destructive cerebral
lesions are found in
about 1 per 10,000
births. These lesions
include
hydranencephaly
porencephaly and
schizencephaly .

HYDRANENCEPHALY
hydranencephaly there
is absence of the cerebral
hemispheres with
preservation of the
mid-brain and
cerebellum.
Complete absence of
echoes from the
anterior and middle
fossae distinguishes
hydranencephaly from
severe hydrocep’
Prognosis
Hydranencephaly is
usually incompatible
with survival beyond
early infancyhalus .

PORENCEPHALY
In porencephaly there are
cystic cavities within the brain
that usually communicate
with the ventricular system,
the subarachnoid space or
both.
Etiology : Porencephaly may be
caused by infarction of the
cerebral arteries or
hemorrhage into the brain
parenchyma.
Diagnosis : In true
porencephaly there is one or
more cystic areas in the
cerebral cortex, which
communicates with the
ventricle while in pseudo
porencephalic cyst cavity donot
communictes with ventricle.
Prognosis : The prognosis in
porencephaly is related to the
size and location of the lesion
and although there is
increased risk of impaired
neurodevelopment in some
cases development is normal

SCHIZENCEPHALY
Schizencephaly is associated
with clefts in the fetal brain
connecting the lateral
ventricles with the
subarachnoid space.
Etiology : Schizencephaly may
be a primary disorder of brain
development or it may be due to
bilateral occlusion of the
middle cerebral arteries.
Dignosis : In schizencephaly
there are bilateral clefts
extending from the lateral
ventricles to the subarachnoid
space, and is usually associated
with absence of the cavum
septum pellucidum.
Prognosis : Schizencephaly is
associated with severe
neurodevelopmental delay and
seizures.

ENCEPHALOMALACIA
Cystic encephalomalacia
an irregular cystic area in
the brain parenchyma
which is characterised by
the presence of multiple
glial septations surrounded
by astrocytic proliferation.
This may be caused by
infarction, infection or
trauma. They may be focal
or diffuse and their
distribution will depend on
the cause and severity of
the injury and the post
conceptual age of the
patient. Encephalomalacia
caused by infarction may
be in the distribution of a
major cerebral artery.

ENCEPHALOMALACIA
If the injury is caused by
mild to moderate
hypotension the areas of
encephalomalacia may lie
in the boundary zones
between the major cerebral
arteries, whereas severe
hypotension may result in
widespread cystic
encephalomalacia with
sparing of the deep
periventricular white
matter only. The presence
of reactive astrocytosis and
glial septations
distinguishes cystic
encephalomalacia from an
area of porencephaly and
indicates that the injury
occurred late in gestation,
in the perinatal period, or
after birth

CHOROID PLEXUS PAPILLOMA
Guerard described the first CPP in
a 3-year-old girl in 1832, and
Perthes described the first
successful surgical removal in 1910.
The male-to-female incidence ratio
of CPP is 2.8 : 1.
CPPs are rare, comprising less than
1% of brain tumors in patients of
all ages. However, CPPs most often
occur in children and constitute up
to 3% of childhood intracranial
neoplasms with a predilection for
younger ages. CPPs comprise 4-6%
of the intracranial neoplasms in
children younger than 2 years and
12-13% of intracranial neoplasms in
children younger than 1 year.

Circulatory system
(745) Bulbus cordis anomalies and anomalies of cardiac septal closure
(745.4) Ventricular septal defect
(745.5) Atrial septal defect
(746) Other congenital anomalies of heart
(747) Other congenital anomalies of circulatory system
(747.1) Coarctation of aorta
(747.11) Interruption of aortic arch
(747.2) Other congenital anomalies of aorta
(747.3) Congenital anomalies of pulmonary artery
(747.4) Congenital anomalies of great veins
(747.5) Absence or hypoplasia of umbilical artery
(747.6) Arteriovenous malformation, unspec.
(747.8) Other specified anomalies of circulatory system
(747.81) Arteriovenous malformation of brain
(746.82) Cor triatriatum
(746.83) Infundibular pulmonic stenosis congenital
(746.84) Congenital obstructive anomalies of heart not elsewhere classified
(746.85) Coronary artery anomaly congenital
(746.86) Congenital heart block
(746.87) Malposition of heart and cardiac apex
(747.89) Other specified congenital anomalies of heart
Brugada syndrome
(747.9) Unspecified congenital anomaly of circulatory system

CONGENITAL HEART DISEASES
80-90% CHD’S
LOW RISK
PREGNANCIES
MJORITY OF
THEM ARE
PRIMI
9% INFANT
MORTILITY IN
U.K.
DUE – C.H.D.
SIX TIME MORE
COMMON THAN
TRISOMIES 21,18,13
FOUR TIMES MORE
COMMON THAN
NEURAL TUBE
DEFECTS
PREVALENCE
8/1000 LIVE BIRTH
30/1000
STILL BIRTH

FIRST ORGAN TO BE FUNCTIONAL
IN HUMAN BEING - HEART
CARDIOGENESIS
TWO POOL OF
CARDIAC
PRECURSORS
SECOND
FIELD
DEVELOP
INTO
RV, OFT,
SINUS
VENOSUS
FIRST FIELD
DVELOPS
INTO
RA,LA, LV

Primitive heart tube 21-22days
Looping of heart 22-24days
Development of IAS 30days
Development of IVS 28-days
Formation of AV Valve
Formation of outflow septum & tract

STREETER’S HORIZONS
STAGES (CVS DEVELOPMENT)
22 24 26 28 30 32 34 36 38DAYS
OF
LIFE
HEART
PULSAION
SINO –
ATRIAL
FORAMEN
*CIRCUL
ATION
*AV
CUSHION
*D.V.
*3ARCHES
•P.VS.
•PA -6
•AORTA
4 ARCH
PVS->LA
*RV,LV
*AV
NODE
O.P.>CL
*O.SEC.
*RV-6A
*LV-4A
TA-
SEPTATION
S.CUSP
TV
MV
IVS
NERVE
IVS

GENETIC ASPECT OF THE
CHDs
• 40%• 100%
• 80%• 40-50%
21 T 13 T
OX18 T

VENRICULAR SEPTAL DEFECT 2/1000
ATRIAL SEPTAL DEFECT 1/3000
AORTIS STENOSIS 1/7000
PULMONARY STENOSIS 1/1000
PULMONARY ATRESIA 1/10,000
d – TRANSPOSITION OF GREAT
ARTERIES
1/5000
TETRALOGY OF FALLOT’S 1/3000
DOUBLE OUTLET RIGHT
VENTRCLE
1/10,000
TRUNCUS ARTERIOSUS 1/10,000
CARDIO SPLENIC SYBDROME 1/10,000
CHD
30%
10%
3%
0.1%
0.01%
2%

OVERALL RECURRENCE RISK IN CHDs
%
GENERAL POPULATION 1
SIBS OF ISOLATED CASE 2
OFFSPRING OF ISOLATED CASE 3
TWO AFFECTED SIBS ( SIB +PARENT) 10
> TWO AFFECTED FIRST DEGREE
RELATIVE
50
MOTHER WITH CHD 10
FATHER WITH CHD 2

VENTRICULAR SEPTAL DEFECT
30% OF CHD’S
2/1000 BIRTH
50% V.S.D. ARE ISOLATED
PERIMEMBRANOUS 80%
INLET V.S.D.
MUSCULAR V.S.D.
OUTLET V.S.D.
90 SMALL V.S.D. CLOSE
SPONTANEOUSLY.
SURGICAL OUT COME IS GOOD

ATRIAL SEPTAL DEFECT
1/3000 BIRTH
10% OF ALL CHD’S
F.OVALE 3%
A.S.D. SECONDUM (ABOVE
F.OVALE)
A.S.D. PRIMUM
(BELOW F. OVALE)
A.S.D. SINUS VENOSUS
CORONARY SINUS A.S.D.;
A rare type A.S.D. in which
coronary sinu and left atrium open
partially or completely unroofed ,
leading to left to right shunt.
50% with A.S.D. Have other
associated other cardiac defects.
? DIFICULT TO DIAGNOSED
ANTENATALLY

COARCTATION OF AORTA
PREVALENCE :
0.2-O.3 /1000 LIVE BIRTHS
8TH COMMON
CARDIAC DEFECT
MORE IN MALES AS
COMPARE TO FEMALES
Types :1. Uncomplicated
COA beyond infancy
2.Uncomplicated COA in
neonates/infants with
/without V.S.D.
3. COA with MS/MR
4. COA with bicuspid
aortic valve / aortic
stenosis
5. Interrupted aortic arch
6.Atypical COA
SHONE COMPLEX :
COA,AS,MS &
HYPOPLASTI LEFT
VENTRICLE

PULMONARY STENOSIS
PREVALENCE :
Pulmonary stenosis :
1/2000 live births.
Pumonary atresia :
1/10,000live births.
5th common CHD’S
50% patients with PS had
associated CHD’S.
Ballloon dilatation is
indicated when PPG is 30
mmHg across pulmonary
valve.
Dysplastic p. valve:
noonsyndrome.
Peripheral branch
stenosis :
Rubella syndrome

FETAL AORTIC STENOSIS
3% OF ALL CHD’S
1/7000 BIRTH
TYPE
SUPRA VALVULAR :
 MEMBRANE
LOCALIZED NARROWING
DIFFUSE NARROWING
VALVULAR
 BICUSPID AORTIC VALVE
DYSPLASTIC AORTIC
VALVE.
SUBVALVULAR
FETAL VALVUAL AORTIC =
STENOSIS

PATENT DUCTUS ATERIOSUS
PREVALENCE :
O.138-O.8/1000 LIVE BIRTHS
Eighty percent (80%) of the DA in
term infants close by 48 hours and
nearly 100% by 96 hours.
Failure of the ductus arteriosus to
close within 48-96 hours of postnatal
age results in a left to right shunt
across the ductus and overloading of
the pulmonary circulation.
A hemodynamically significant shunt
due to PDA has been reported in 40%
of infants less
than 1000 grams and 20% of infants
between 1000-1500 grams Initial
Indomethacin.
0.2 mg/kg stat followed by age
adjusted doses:
Subsequent dose
< 2 day- 0.1 mg/kg/dose 12 hourly for
2 doses
2-7 day- 0.2 mg/kg/dose 12 hourly for
2 doses
7 day- 0.25 mg/kg/dose 12 hourly for
2 doses.
Ibuprofen : 10 mg/kg stat followed
by 5 mg/kg/dose 24 hourly for 2 doses
PULMONARY ARTERY
DAO

SINGLE VENTRICLE1.5 % OF ALL CHD’S
Univentricular heart includes
both those cases in which two
atrial chambers are connected, by
either two distinct atrioventricular
valves or by a common one, to a
main ventricular chamber
(double-inlet single ventricle) as
well as those cases in which,
because of the absence of one
atrioventricular connection
(tricuspid or mitral atresia), one
of the ventricular chambers is
either rudimentary or absent.
Surgical treatment (the Fontan
procedure) involves separation of
the systemic circulations by
anastomosing the superior and
inferior vena cava directly to the
pulmonary artery.
GALEN SHUNT
FONATAN PROCEDURE
COMPLICATIONS :
ARRHYTHMIA
THROMBUS FORMATION
PROTEIN LOOSING ENTERO
PATHY

CONGENITAL MITRAL STENOSIS
Congenital MS is rare,
occurring in 0.5% of
patients with congenital
heart disease (CHD)
Congenital MS, a rare entity,
takes several forms. These
include hypoplasia of the
mitral valve annulus, mitral
valve commissural fusion,
double orifice mitral valve,
shortened or thickened
chordae tendinae, and
parachute mitral valve, in
which all chordae attach to
a single papillary muscle.
The most common
associated malformations
arecoarctation of the
aorta, aortic valve stenosis,
and subvalvular aortic
stenosis.
LA
LA

CONGENITAL MITRAL ATRESIA
The association of
multiple levels of left-
sided inflow and outflow
tract obstruction is
termed the Shone
complex.
Severe hypoplasia, or
atresia, of the mitral
valve results in a
hypoplastic LV cavity size
that is not capable of
sustaining the systemic
cardiac output.
This situation is
considered part of the
spectrum of
the hypoplastic left heart
syndrome

ATRIO – VENTRICULAR SEPTAL DEFECT
PREVALENCE : 7% OF ALL
CHD’S
1/3000 LIVE BIRTHS
50% of cases are associated
with aneuploidy, 60%
being trisomy 21, 25%
trisomy 18 ( associated with
extra-cardiac anomalies)
or in fetuses with
cardiosplenic syndromes
associated with multiple
cardiac anomalies and
abnormal disposition of
the abdominal organs are
almost the rule.
Diagnosis :
Antenatal echocardiographic
diagnosis of complete
atrioventricular septal defects is
usually easy. The incomplete
forms are more difficult to
recognize.

ATRIO – VENTRICULAR SEPTAL DEFECT
Prognosis : Atrioventricular
septal defects do not impair
the fetal circulation per se.
However, the presence of
atrioventricular valve
insufficiency may lead to
intrauterine heart failure.
About 50% of untreated
infants die within the first year
of life from heart failure,
arrhythmias and pulmonary
hypertention due to right-to-
left shunting (Eisenmenger
syndrome).
Survival after surgical
closure, which is usually
carried out in the sixth
month of life, is more than
90%. But in about 10% of
patients a second operation
for atrioventricular valve
repair or replacement is
necessary.
Long-term prognosis is
good.

d - TRANSPOSITION OF GREAT ARTERIESPREVALENCE :
0.24/1000 LIVE BIRTHS(1/5000)
2ND MOST COMMON CHD’S
ENCOUNTERED IN INFANCY &
REQUIRE TRANSFER TO TERTIARY
CARE CENTER WITHIN FIRST TWO
WEEK OF LIFE.
TYPE OF TGA
 Those with intact ventricular
septum with or without
pulmonary stenosis,
 Those with ventricular septal
defects and
 Those with ventricular septal
defect and pulmonary stenosis.
Diagnosis : Complete
transposition is probably one of
the most difficult cardiac
lesions to recognize in utero. In
most cases the four-chamber
view is normal, and the cardiac
cavities and the vessels have
normal
PROGNOSIS :Surgery which
involves arterial switch to
establish anatomic and
physiological correction, is
usually carried out within the
first two weeks of life..
.
P.A.
LA

TETRALOGY OF FALLOT’S
Prevalence : 3-26/10.000 live
births.
Mutation : NKX2,5 for 4%
TOF
Deletion of human TBX1 ;
chromosome 22q11.2, for 15% TOF
Trisomy 21 ,18,13 for 10% TOF.
Thus in 70% TOF is genetic
etiology remains to be determine.
Anatomical lesion
:Underdevelopment of
pulmonary infundibulum,
subaortic V.S.D.,
overriding of aorta and
right ventricular hypertrophy
61% simple TOF
33% pulmonary atresia
3% absent pulmonary valve
3% common atrio-ventricular canal
Tetralogy of Fallot It is the most
common cyanotic heart defect,
representing 55-70%, and the most
common cause of blue baby
syndrome. It was described in 1672
by Niels Stensen, in 1773 by Edward
Sandifort, and in 1888 by the
French physician Étienn-Louis
Arthur Fallot, for whom it is
named

When severe pulmonic stenosis
is present, cyanosis tends to
develop immediately after birth.
With lesser degrees of
obstruction to pulmonary
blood flow the onset of
cyanosis may not appear until
later in the first year of life.
Diagnosis : Echocardiographic
diagnosis of tetralogy of Fallot
relies on the demonstration of a
ventricular septal defect in the
outlet portion of the septum
and an overriding aorta. There
is an inverse relationship
between the size of the
ascending aorta and pulmonary
artery, with a disproportion that is
often striking. A large aortic root
is indeed an important diagnostic
clue.
Prognosis : Cardiac failure is
never seen in fetal life as well as
postnatally.

Even in cases of tight pulmonary
stenosis or atresia, the wide
ventricular septal defect
provides adequate combined
ventricular output, while the
pulmonary vascular bed is
supplied in a retrograde manner
by the ductus. . When there is
pulmonary atresia, rapid and
severe deterioration follows
ductal constriction. Survival
after complete surgical repair
(which is usually carried out in
the third month of life) is more
than 90% and about 80% of
survivors have normal exercise
tolerance.

TRUNCUS ARTERIOSUS
7% OF ALL CHD’S
1/10,000 BIRTH
30% HAVE EXTRACARDIAC
MALFORMATION
TRUNCUS IS CONNECTED TO :
40% RGIHT VENTRCLE
20% LEFT VENTRICLE
40% TO BOTH VENTRICLE
TYPE :
 I : MAIN PA CONNECTED TO
TA
II : PA BRANCH FROM LATERAL
ASPECT OF TRUNCUS
III: PA BRANCH FROM
POSTERIOR ASPECT OF TA.
IV : NO PA; LUNG GETS BLOOD
SUPLLY FROM – AORTIC
COLATERALS

DOUBLE OULET RIGHT VENTRICLE7% OF ALL CHD’S
PREVALENCE : 1/10,000 BIRTH
In double-outlet right ventricle
(DORV) most of the aorta and
pulmonary valve arise
completely or almost
completely from the right
ventricle. The relation between
the two vessels may vary,
ranging from a Fallot-like to a
TGA-like situation (the Taussig-
Bing anomaly). Pulmonary
stenosis is very common in all
types of DORV, but left outflow
obstructions, from subaortic
stenosis to coarctation and
interruption of the aortic arch,
can also be seen.
Diagnosis : Prenatal diagnosis of
DORV can be reliably made in the
fetus but differentiation from other
conotruncal anomalies can be very
difficult.
PROGNOSIS: Since the fetal
heart works as a common
chamber where the blood is
mixed and pumped, DORV is
not associated with intrauterine
heart failure.
RV
PA
AO
LA
IVS
LA

TRICUSPID ATRESIA
Prevalence : 0.057/live births
2.6% 0f all CHD’S
Classification:
Type I :Normally related both
great arteries (70%)
Type I A : NO VSD , PA
Type I B : small VSD ,PS
Type I C : large VSD no PS
Type II d –TGA (27%)
Type II A : NO VSD , PA
Type II B : small VSD ,PS
Type II C : large VSD no PS
Type III : l – TGA (3%)
ECG : LAD WITH LVH
Procedure : Surgical treatment
(the Fontan procedure) involves
separation of the systemic
circulations by anastomosing the
superior and inferior vena cava
directly to the pulmonary artery.
GAENN SHUNT at 6months
FONATAN PROCEDURE at 2
years of age.

TOTAL ANOMALOUS PULMONARY VENOUS RETURN
12 MOST COMMON
CARDIAC DEFECT
2.6% OF ALL CHD’S
PREVALENCE :
0.056/1000LIVE BIRTHS
TYPE :
SUPRA CARDIAC :PVS
DRAIN INTO LEFT
INNOMINATE VEI, LEFT
SVC OR AZYGOUS VEIN
CARDIAC : PVS DRAIN
INTO RIGHT ATRIUM OR
CORONARY SINUS
INFRACARDIAC: PVS
DRAIN INTO PORTAL VEIN,
DUCTUS VENOSUS AND
HEPATIC VEIN
MIXED:

RUPTURE OF SINUS OF VALSALVA
Sinus of Valsalva aneurysm
comprises approximately 0.1-
3.5% of all congenital cardiac
anomalies. Discovery in the
pediatric age group is
unusual.Congenital sinus of
Valsalva aneurysm was first
described by Hope. The 3 sinuses
of Valsalva are located in the most
proximal portion of the aorta, just
above the cusps of the aortic valve.
The sinuses correspond to the
individual cusps of the aortic valve.
Aneurysm of a sinus of Valsalva is a
rare congenital cardiac defect that
can rupture, causing heart failure
or other catastrophic cardiac
events. If the aneurysm remains
unruptured, it occasionally causes
obstruction of cardiac flow
resulting from compression of
normal structures. Aneurysms
typically develop as a discrete
flaw in the aortic media within
one of the sinuses of Valsalva.
Aneurysms most often involve the
right aortic sinus (67-85% of
patients, often associated with a
supracristal ventricular septal
defect), followed by the
noncoronary sinus, whereas an
aneurysm of the left sinus is rare.

RUPTURE OF SINUS OF VALSALVA
Distortion and prolapse of the
sinus and aortic valve tissue can
lead to progressive aortic valve
insufficiency. Unruptured
aneurysm may cause distortion
and obstruction in the right
ventricular outflow tract.
Distortion and compression may
also cause myocardial ischemia (by
coronary artery compression) and,
possibly, heart block (by
compressing the conduction
system).
Rupture may occur into any
chamber, although rupture most
commonly occurs into the aortic
right ventricular communication.
Rupture into the right atrium is the
second most common, in
association with a noncoronary
cusp aneurysm. Rupture may occur
less commonly into the left-sided
chambers, the pulmonary
artery, and rarely extends into the
pericardium.
RSOVs are commonly "wind-
sock"-like, with a broader aortic
end, ADO is best suited for this
defect, although other
Amplatzer devices

ALCPA
ALCAPA or
Blannd-Garland-White
syndrome is a rare
congenital anomaly with
incidence of 1 in 3 lac live
births, accounting for
0.25% of congenital heart
disease.
Wesselhoeft et al.
classified the clinical
spectrum of
ALCAPA as follows:
1. Infantile Syndrome :
This is the most common
form. Patient develops
acute episode of
respiratory insufficiency,
cyanosis, irritability and
profuse sweating. Most
of them die within two
years.

ALCPA
2. Mitral Regurgitation : It is
characterised by mitral
regurgitation murmur,
congestive heart failure,
cardiomegaly and atrial
arrythmias in children,
adolescent and adults.
3. Syndrome of Continuous
Murmur : This occurs in
asymptomatic patients with
angina pectoris. A continuous
murmur results from great
volume of blood flowing
through collateral branches
between right and left
coronary arteries.
4. Sudden Death in Adolescents
or Adults : Most of the patients
are asymptomatic, but some
may experience angina on
exertion, cardiac arrhythmias
and sudden death.

EBSTEIN’S ANOMALY TRICUSPID VALVE
Ebstein disease
Prevalence : 0.012-0.06/1000
live births Ebstein's may be
associated with trisomy 13, 21,
Turner, Cornelia de Lange and
Marfan syndromes. Maternal
ingestion of lithium has also
been incriminated as a causal
factor
Ebstein's anomaly results
from a faulty implantation of
the tricuspid valve. The
posterior and septal leaflets
are elongated and tethered
below their normal level of
attachment on the annulus or
displaced apically, away from
the annulus, down to the
junction between the inlet and
trabecular portion of the right
ventricle. . Associated
anomalies include atrial septal
defect, pulmonary atresia,
ventricular septal defect, and
supraventricular tachycardia.

EBSTEIN’S ANOMALY
Ebstein disease
Prevalence : 0.012-0.06/1000
live births Ebstein's may be
associated with trisomy 13, 21,
Turner, Cornelia de Lange and
Marfan syndromes. Maternal
ingestion of lithium has also
been incriminated as a causal
factor
Ebstein's anomaly results
from a faulty implantation of
the tricuspid valve. The
posterior and septal leaflets
are elongated and tethered
below their normal level of
attachment on the annulus or
displaced apically, away from
the annulus, down to the
junction between the inlet and
trabecular portion of the right
ventricle. . Associated
anomalies include atrial septal
defect, pulmonary atresia,
ventricular septal defect, and
supraventricular tachycardia.
LA

CORTRIATRIATUMThe incidence of cor triatriatum
is less than 1 in 10,000.
First reported in 1868, cor
triatriatum, that is, a heart with
3 atria (triatrial heart), is a
congenital anomaly in which
the left atrium (cor triatriatum
sinistrum) or right atrium (cor
triatriatum dextrum) is divided
into 2 parts by a fold of tissue, a
membrane, or a fibromuscular
band. Classically, the proximal
(upper or superior) portion of
the corresponding atrium
receives venous blood, whereas
the distal (lower or inferior)
portion is in contact with the
atrioventricular valve and
contains the atrial appendage
and the true atrial septum that
bears the fossa ovalis. The
membrane that separates the
atrium into 2 parts varies
significantly in size and shape.

CORTRIATRIATUM
It may appear similar to a
diaphragm or be funnel-shaped,
bandlike, entirely intact
(imperforate) or contain one or
more openings (fenestrations)
ranging from small, restrictive-
type to large and widely open. Cor
triatriatum dexter is a rare cardiac
abnormality in which the right
atrium is subdivided into two
distinct chambers. This anomaly
is generally attributed to the
persistence of the right sinus
venosus valve and it is frequently
associated with severe
malformations of other right
heart structures. Cor triatriatum
dexter results from persistence of
the entire right sinus venosus
valve, which forms a large,
obstructive flap or septum across
the right atrium and divides it
into 2 separate chambers. The
upstream chamber receives superior
and inferior vena caval flow, while the
downstream chamber incorporates the
right atrial appendage.

CORTRIATRIATUM
In this situation, venous flow is
directed to the upstream
chamber and subsequently
across an atrial septal defect to
the left atrium, resulting in a
right-to-left shunt. Because the
membrane is usually
perforated, there is also some
flow across the membrane into
the downstream chamber and
through the tricuspid valve into
the right ventricle.
Echocardiographically, the
membrane generally runs from
the inferior vena cava to the
superior vena cava, separating
the right atrial appendage and
tricuspid valve from the great
veins. This cardiac
malformation can be
differentiated from the
gianteustachian valve dividing
the right atrium, by
echocardiographic
demonstration of the atrial
septal defect and by the
presence of cyanosis

ENLARGE CORONARY SINUS
The coronary sinus is enlarge
1. If left superior vena cava or
pulmonary vein open into it.
PREVALENCE : 0.5% in general
population & 3-10 %among childern
with CHD.
2. In condition associated with
raise right atrial pressure like –
tricuspid atresia, severe pulmonary
arterial hypertension.
3. Increased left main coronary
artery flow and increased
coronary sinus return.
Dilated coronary sinus is a
prompt to look for further cardiac
abnormalities such as intracardiac
shunts or thoracic venous
abnormalities.
The complex of an unroofed
coronary sinus (UCS) and a
persistent left superior vena cava
(PLSVC) is a rare congenital heart
disease first described by Raghib
et al. in 1965.1 A normal coronary
sinus drains the cardiac veins into
the right atrium. A UCS, in addition
to draining the cardiac veins, also
communicates abnormally with the
left atrium.

ENLARGE CORONARY SINUS
This abnormal communication is
thought to be due to impaired
development of the partition
between the left atrium and the
coronary sinus – an alternative
explanation is subsequent
dissolution of this partition.
A PLSVC, abnormally draining the
left internal jugular and subclavian
veins into the coronary sinus, is
due to impaired degenerationof the
embryonic left counterpart of the
normal right superior vena cava.
A UCS or a PLSVC may be further
associated with other cardiac
abnormalities. UCS and PLSVC
may cause no symptoms or may
cause right ventricular failure,
paradoxical cerebral embolism and
cerebral abscess, or cyanosis that
may vary with neck position. UCS
and PLSVC may be further
abnormalities such as
atrioventricular septal defect, atrial
appendage anomalies and
coronary sinus ostial atresia .

ENLARGE CORONARY SINUSsuch as atrioventricular septal
defect, atrial appendage anomalies
and coronary sinus ostial atresia .
UCS and PLSVC may be further
abnormalities such as
atrioventricular septal defect, atrial
appendage anomalies and
coronary sinus ostial atresia. This
case is associated with a PAPVD.
UCS, PLSVC and associated cardiac
abnormalities may be investigated
with echocardiography.
Treatment of UCS and PLSVC, if
needed, is surgical correction of its
components and associated
abnormalities.
Dilated coronary sinus is a
prompt to look for further cardiac
abnormalities such as intracardiac
shunts or thoracic venous
abnormalities. The complex of UCS
and PLSVC is one such
abnormality and its treatment
requires careful assessment of not
only the UCS and PLSVC but also
other concomitant cardiac
abnormalities to prevent post-
treatment haemodynamic
complications

CARDIAC MALPOSITION
PREVALENCE :
0.103/1000LIVE BIRTH
1% OF ALL CHD’S
TYPE :
 DEXTROCARDIA
ECTOPIA CORDIS -
PENTALOGY OF CANTRELL
ASPLENIA
POLYSPLENIA

RHABDOMYOMA
Prevalence: Any cardiac
tumor 1-2/10,000; over 90%
are benign. Rhabdomyoma
is the most common
benign congenital tumor..
occurring in the fetus and neonate,
with most identified within the
first year of life
Recurrence risk: Frequent in
patients with tuberous sclerosis.
Associated anomalies: Tuberous
sclerosis (50-86%), cardiac
dysrhythmia, non-immune
hydrops.
Intracavitary growth of the tumors
may cause disruption of
intracardiac blood flow leading to
congestive heart failure and
hydrops. Cardiac dysrhythmias,
caused by compression of the
conducting system, are also
frequently identified.
Rhabdomyomas grow slowly in
utero but tend to regress
spontaneously after birth.

FETAL P S V T
Adenosine :Per umbilical
0.05 to 0.2mg
Flecanide : oral 200-300mg
Digoxin : Oral, parenteral
Transplacental, 0.5- 1 mg
Amiodarone : parenteral
600-800mg
Sotatlol : oral; 80-320 mg
FETAL PSVT ========

FETAL COMPLETE A-V BLOCK
1901 MORQUIO gave first
description of CCAVB.
1908 Van den heuvel – ECG
1929 Yater IN UTERO
diagnosis of CCAVB.
Can be diagnosed as
early as 16th week of
gestation.
1976 McCue &
Chameides - association
between CCAVB &
connective tissue
disorder .
75% anti –Ro positive
Prevalence : 1/22,000
live births
1/3 to ¼ have -
structural heart defects
- L – TGA
ECD

Eye, ear, face and neck
(743) Congenital anomalies of eye
(743.0) Anophthalmos
(743.1) Microphthalmos
(743.2) Buphthalmos
(743.3) Congenital cataract and lens anomalies
(743.4) Coloboma and other anomalies of anterior segment
(743.45) Aniridia
(743.5) Congenital anomalies of posterior segment
(743.6) Congenital anomalies of eyelids, lacrimal system, and orbit
(744) Congenital anomalies of ear, face, and neck
(744.0) Anomalies of ear causing impairment of hearing
(744.1) Accessory auricle
(744.2) Other specified congenital anomalie of ea
(744.22) Macrotia
(744.23) Microtia
(744.3) Unspecified congenital anomaly of ear
(744.4) Branchial cleft cyst or fistula; preauricular sinus
(744.5) Webbing of neck
(744.8) Other specified congenital anomalies of face and neck
(744.81) Macrocheilia
(744.82) Microcheilia
(744.83) Macrostomia
(744.84) Microstomia

OPHTHALAMIC BIRTH DEFECTS CONGENITAL CORNEAL OPACITY
Most ocular abnormalities
have occurred in patients with
chromosomal defects. Major
ocular abnormalities, such as
anophthalmia, cyclopia,
retinoblastoma,
microphthalmia, corneal
opacities, coloboma,
cataracts, intraocular
cartilage, retinal dysplasia
and absent optic nerves;
and, minor abnormalities,
such as ptosis, abnormal
eyelid fissures, and
Brushfield spots are present
in individuals with abnormal
chromosomes. The
chromosome errors are usually
present in all somatic tissues.
Consequently, multiple tissue
abnormalities would be
expected in most patients with
chromosome abnormalities.

CONGENITAL PTOSISMental retardation is very
common in those patients
with abnormalities of
autosomes. Therefore, it is
unlikely that an isolated single
clinical or histopathological
ocular abnormality will be the
result of a chromosome error.
However, if the individual has
multiple systemic
abnormalities, then a
chromosome error can be
considered reasonably. Any
chromosome disorder can be
identified correctly by an
appropriate banding
chromosome determination
on the affected individuals.
With the possible exception of
the association of 13ql4- and
retinoblastoma, there does not
appear to be any
pathognomonic ocular
abnormalities that occur in
individuals with chromosome
errors.

Mental retardation is very
common in those patients
with abnormalities of
autosomes. Therefore, it is
unlikely that an isolated single
clinical or histopathological
ocular abnormality will be the
result of a chromosome error.
However, if the individual has
multiple systemic
abnormalities, then a
chromosome error can be
considered reasonably. Any
chromosome disorder can be
identified correctly by an
appropriate banding
chromosome determination
on the affected individuals.
With the possible exception of
the association of 13ql4- and
retinoblastoma, there does not
appear to be any
pathognomonic ocular
abnormalities that occur in
individuals with chromosome
errors.

CONGENITAL GLUCOMA
Buphthalmos is defined as a
"large eye" [bu (Greek) = ox or
cow]. It is most often present
in both eyes in children due to
congenital open-angle
glaucoma of the eye, noted by
unusually large corneas and
increased overall size of the
eyeball. An abnormally narrow
angle between the cornea and
iris blocks the outflow of
aqueous humor, which leads to
an increased intraocular
pressure and a characteristic
bulging enlargement of the
eyeball. Patient symptoms may
include excessive tearing and
light sensitivity
("photophobia"). Cupping of
the optic disk, which may be
the first sign to be seen on
dilated examination by an eye
care professional. Congenital
glaucoma untreated usually
leads to blindness.

CONGENITAL GLUCOMA
Aniridia is a rare congenital
condition characterized by the
underdevelopment of the eye's iris.
This usually occurs in both eyes. It
is associated with poor
development of the retina at the
back of the eye preventing normal
vision development. Aniridia does
not always cause lack of vision, but
usually leads to a number of
complications with the eye The
AN2 region of the short arm of
chromosome 11 (11p13) includes the
PAX6 gene (named for its PAired
boX status), whose gene product
helps regulate a cascade of other
genetic processes involved in the
development of the eye Aniridia is
a heterozygotic disease, meaning
that only one of the two
chromosome 11 copies is affected.
When both copies are altered
(homozygous condition), the result
is a uniformly fatal condition with
near complete failure of entire eye
formation

ANIRIDIAAniridia may be broadly
divided into hereditary and
sporadic forms. Hereditary
aniridia is usually transmitted
in an autosomal dominant
manner (each offspring has a
50% chance of being affected),
although rarer autosomal
recessive forms (such as
Gillespie syndrome) have also
been reported. Sporadic
aniridia mutations may affect
the WT1 region adjacent to the
AN2 aniridia region, causing a
kidney cancer called
nephroblastoma (Wilms
tumor). These patients often
also have genitourinary
abnormalities and mental
retardation (WAGR
syndrome).

ANIRIDIA
Aniridia is a rare congenital
condition characterized by the
underdevelopment of the eye’s iris. This
usually occurs in both eyes. It is
associated with poor development of
the retina at the back of the eye
preventing normal vision
development. Aniridia does not always
cause lack of vision, but usually leads to a
number of complications with the eye
The AN2 region of the short arm of
chromosome 11 (11p13) includes the PAX6
gene (named for its PAired boX status),
whose gene product helps regulate a
cascade of other genetic processes
involved in the development of the eye
(as well as other nonocular structures).[
Aniridia is a heterozygotic disease,
meaning that only one of the two
chromosome 11 copies is affected. When
both copies are altered (homozygous
condition), the result is a uniformly fatal
condition with near complete failure of
entire eye formation. In 2001, two cases
of homozygous An iridia patients were
reported; the fetuses died prior to birth
and had severe brain damage. In mice,
homozygous Small eye defect (mouse
Pax-6) led to loss of eyes, nose and the
fetuses suffered severe brain damage.
[Aniridia may be broadly divided into
hereditary and sporadic forms.

ANIRIDIA
Hereditary aniridia is usually transmitted
in an autosomal dominant manner (each
offspring has a 50% chance of being
affected), although rarer autosomal
recessive forms (such as Gillespie
syndrome) have also been reported.
Sporadic aniridia mutations may affect
the WT1 region adjacent to the AN2
aniridia region, causing a kidney cancer
called nephroblastoma (Wilms tumor).
These patients often also have
genitourinary abnormalities and mental
retardation (WAGR syndrome). Several
different mutations may affect the PAX6
gene. Some mutations appear to inhibit
gene function more than others, with
subsequent variability in the severity of
the disease. Thus, some aniridic
individuals are only missing a relatively
small amount of iris, do not have foveal
hypoplasia, and retain relatively normal
vision. Presumably, the genetic defect in
these individuals causes less
"heterozygous insufficiency," meaning
they retain enough gene function to yield
a milder phenotype
(OMIM) 106210 AN
(OMIM) 106220 Aniridia and absent
patella
(OMIM) 106230 Aniridia, microcornea,
and spontaneously reabsorbed cataract
(OMIM) 206700 Aniridia, cerebellar
ataxia, and mental deficiency (Gillespie
syndrome)

CONGENITAL ANTERIOR STAPHYLOMA
Staphyloma : It is the
protrusion of the sclera or
cornea, usually lined with
uveal tissue. In 1827 F.A. Von
Ammon describe it.
Anterior staphyloma
staphyloma is in the anterior
part of the eye.
corneal staphyloma 1.
bulging of the cornea with
adherent uveal tissue.
2. One formed by protrusion
of the iris through a corneal
wound.
posterior staphyloma,
staphyloma posticum
backward bulging of sclera at
posterior pole of eye.
scleral staphyloma
protrusion of the contents of
the eyeball where the sclera
has become thinned

CONGENITAL ANTERIOR STAPHYLOMA
Probabilities are that two
types of such congenital
anterior staphyloma exist –
one is of inflammatory
origin and the other is due
to developmental defect.
The latter is, however, all
the more rare.

FACE - CLEFT
MICRO OPHTHALMIA
ANOPHTHALMIA
HYPOTELORISM
(STENOPIA)
HYPERTELORISM

FACE - CLEFT
• ONLY PALATE
• ONLY LIP
• BOTH LIP & PALATE
ARE CLEFT
• PREVALENCE
1/800
BIRTH
50%
25%25%

CLEFT LIP & PALATE
INHERITANCE
AD, AR, XR & XD
1-2 % WITH 13 & 18
TRISOMY
5% TERATOGEN –
ANTIEPILEPTICS
WITH 100 GENETIC
DISODERS
.
80% CLEFT S LIP
WITH /WITHOUT
PALATE
ISOLATED
20 % CLEFT
ASSOCIATED
WITH SYNDROME
PREVALENCE
1/800 BIRTH

CLEFT LIP
MEDIAN CLEFT LIP
PREVALENCE IS 0.5 %
ASSOCIATE WITH
HOLOPROSENCEPHALY
&
ORAL – FACIAL DIGITAL
SYNDROME
.
MEDIAN
&
LATERAL
CLEFT
LIP
TYPE OF CLEFT LIP

FACIAL CLEFT
 This term refers to a wide spectrum of clefting defects (unilateral, bilateral
and less commonly mid-line) usually involving the upper lip, the palate, or both.
 Cleft palate without cleft lip is a distinct disorder. Facial clefts encompass a broad
spectrum of severity, ranging from minimal defects, such as a bifid uvula, linear
indentation of the lip, or submucous cleft of the soft palate, to large deep defects
of the facial bones and soft tissues.
 The typical cleft lip will appear as a linear defect extending from one side of the lip
into the nostril.
 Cleft palate associated with cleft lip may extend through the alveolar ridge and hard
palate, reaching the floor of the nasal cavity or even the floor of the orbit. Isolated
cleft palate may include defects of the hard palate, the soft palate, or both.
 Both cleft lip and palate are unilateral in about 75% of cases and the left side is
more often involved than the right side.
Prevalence
The incidence of cleft lip with or without cleft palate 1/750, the incidence of cleft
palate alone is 1/2500.
Treatment
Surgical closer of cleft lip is usually performed by three months of the age when the
infant has satisfactory weight gain and free from respiratory and systemic infection.
Closer of palate is usually done before 1 year of age to enhance normal speech
development.

ABSENT DEPRESSOR ANGULARIS ORIS
The depressor angularis oris
muscle (DAOM) originates from
the oblique line of the mandible
and extends upward and
medially to the orbi-cularis oris.
It attaches to the skin and the
mucous membrane of the lower
lip. The DAOM draws the lower
corner of the mouth downward
and everts the lower lip. The
cause for agenesis of the muscle
is unknown. The absence or
hypoplasia of the DAOM
produces characteristic findings.
The lower lip on the affected side
looks thinner because of the lack
of eversion and feels thinner
because of the muscle agenesis.
When crying, the corner of the
mouth on the affected side is
displaced toward the normal
side and the lower lip on the
normal side moves downward
and outward

ABSENT ORBICULARIS ORIS
.
These patients have
symmetrical forehead
wrinkling, eye closure, and
nasolabial fold depth. The
diagnosis may be confirmed by
electrophysiologic studies. The
facial nerve conduction time
to the mentalis and orbicularis
oris muscle are normal. There
is no fibrillation in the area
normally occupied by the
DAOM. Motor units are
decreased or absent in the
same area.
Agenesis of the DAOM can
occur as an isolated anomaly
but it has also been reported in
association with
cardiovascular,
musculoskeletal,
genitourinary, and respiratory
defects.

MICROGANTHIA
OTOCEPHALY :
SEVERE HYPOPLASIA OF MANDIBLE
SEVERE MIDLINE CLEFT
HOLOPROSENCEPHALY,
ANTERIOR ENCEPHALOCELE
CYCLOPIA,
AGLOSSIAMICROSTOMIA,
MID FACIAL LOCATION-
OF EAR S “EAR HEAD”
.
PREVALENCE
1/1000
BIRTH

MICROGANTHIA
• GENETIC
SYNDROME
• CHROMOSOMAL
• TERATOGENIC
DRUG
• ROBIN
ANOMALAD
• (SPORADIC)
40% METHOTREXATE
TREACHER-
COLLINS,
ROBIN &
ROBERT
SYNDROME
18 T
TRIPLOIDY

NECK
TURNER SYNDROME
45 0X
.
CYSTIC
HYGROMA

Respiratory system
(748) Congenital anomalies of respiratory system
(748.0) Choanal atresia

RESPIRATORY SYSTEM
CONGENITAL
DIAPHRAGMATIC
HERNIA
PLEURAL
EFFUSION
SEQUESTRATION OF
LUNG
CYSTIC
ADENOMATOID
MALFORMATION

CYSTIC ADENOMATOID MALFORMATION
1/4000 BIRTH
85% UNILATERAL
TYPE –
I - MACRO CYSTIC >5 mm
II -MIXED
III - MICRO CYSTIC <5 mm

PULMONARY ABNORMALITIES
CYSTIC ADENOMATOID MALFORMATION (CAM)
 Cystic adenomatoid malformation of the lung is a developmental
abnormality arising from an overgrowth of the terminal respiratory
bronchioles.
 The condition may be bilateral involving all lung tissue, but in the
majority of cases it is confined to a single lung or lobe. The lesions are
either macrocystic (cysts of at least 5mm in diameter) or microcystic
(cysts less than 5 mm in diameter).
 In 85% of cases, the lesion is unilateral with equal frequency in the right
and left lungs and equal frequency in the microcystic and macrocystic
types.
Prevalence: CCAM is common 1-4/100000 birth.
Clinical Features :
New born present with respiratory distress recurrent respiratory infection
and pneumothorax.
The lesion may be confused with a diaphragmatic hernia.

Treatment :
 Antenatal treatment is
controversial it may include
excision of affected lobe,
aspiration of macrocystic
lesion.
 In the postnatal period surgery
is indicated for all symptomatic
patients.

CONGENITAL
DIAPHRAGMATIC HERNIA
• GENETIC
SYNDROME
• CHROMOSOMAL
• OTHER
• SPORADIC
50%
CARNIO SPINAL
DEFECT
INIENCEPHALY
CARDIAC
DEFECT
FRYNS
SYNDROME
MARFAN
DE LANG
SYNDROME
18 & 13T
MOSAIC
TETRASOMY12 p
PALLISTER-
KILLIAN SYN

CONGENITAL DIAPHRAGMATIC HERNIA
1/4000 BIRTHS
TYPE :
RIGHT CDH
LIVER HERNIATING
INTO CHEST
HEART ON LEFT SIDE
OF CHEST
FETAL THERAPY:
TRACHEAL OCCLUSION
EITHER BY FETSCOPE
OR
BY BALLON OCCLUSION
HEART RIGHT HEMITHORAX LEFT
LIVER IN RIGHT HEMITHORAX

1/4000 BIRTHS
TYPE :
LEFT CDH
STOMACH,SPLEEN &
BOWEL HERNIATING
INTO CHEST
FETAL THERAPY:
Initial approach was
tracheal occlusion by clips
on the trachea.
It is now performed with
intra-tracheal inflatable
balloon. The balloon is
inserted at 26 to 28 weeks
and removed at 34 weeks.
HEART RIGHT HEMITHORAX

 Development of the diaphragm is usually completed by the 9th
week of gestation.
 In the presence of a defective diaphragm, there is herniation of the
abdominal viscera into the thorax at about 10–12 weeks, when the
intestines return to the abdominal cavity from the umbilical cord.
 However, at least in some cases, intrathoracic herniation of viscera
may be delayed until the second or third trimester of pregnancy.
Prevalence:
Diaphragmatic hernia is found in about 1 per 4000 births.
Clinical Features:
Respiratory distress grunting use of accessory muscle and cyanosis
and child have scaphoid abdomen.

Etiology
 Diaphragmatic hernia is usually a sporadic abnormality.
 However, in about 50% of affected fetuses there are associated
chromosomal abnormalities (mainly trisomy 18, trisomy 13 and
Pallister–Killian syndrome – mosaicism for tetrasomy 12p), other
defects (mainly craniospinal defects, including spina bifida,
hydrocephaly and the otherwise rare iniencephaly, and cardiac
abnormalities) and genetic syndromes (such as Fryns syndrome, de
Lange syndrome and Marfan syndrome).
Treatment
Aggressive respiratory support it include rapid endotracheal
intubation, sedation, possibly paralysis.
Surfactant is commonly used but no study has proven.
High frequency oscillation ventilation (HFOV).
Extracorporeal membrane oxygeneration (ECMO).
Nitric oxide is used has selective vasodilator.
Surgery : Ideal time to repair after stabilization.

1/4000 BIRTHS
TYPE :
RIGHT CDH :
LIVER HERNIATING
INTO CHEST
FETAL THERAPY:
TRACHEAL OCCLUSION
EITHER BY FETSCOPE
OR
BY BALLON OCCLUSION

PLEURAL EFFUSIONUnilateral Bilateral
Primary
most often chylous;
often on the right
Secondary
Clear; as part of
non-immune
hydrops
Isolated
usually associated with
an underlying
structural anomaly:
 pulmonary
lymphangiectasia
 cystic
adenomatoid
malformation of
the lung
 bronchopulmona
ry sequestration
 diaphragmatic
hernia
 chest wall
hamartoma
 pulmonary vein
atres
incidence of about
one per 1,000
pregnancies.
Associated with
other
manifestations
of hydrops
 subcutaneo
us skin
oedema
 pericardial
effusion
 ascites

PLEURAL EFFUSION
One option in the management of
fetuses with pleural effusion is
thoracocentesis and drainage of
the effusions. However, in the
majority of cases the fluid
reaccumulates within 24-48 hours
requiring repeated procedures and
it is therefore preferable to achieve
chronic drainage by the insertion
of pleural-amniotic shunts. The
clinical course of primary fetal
hydrothorax is unpredictable.
Whereas smaller unilateral
effusions might remain stable or
even regress, this is rarely the case
with larger collections. Bilateral
effusions, hydrops, preterm
delivery and the lack of antenatal
therapy are all associated with poor
outcome. Once structural and
chromosomal anomalies have been
excluded, optimal management
depends on gestational age, rate of
progression, the development of
hydrops and associated maternal
symptoms. For very large effusions
with mediastinal shift, hydrops
and/or hydramnios, or when there
is rapid enlargement of the
effusion, fetal intervention is
warranted

CHEST WALL LYMPHATIC HYGROMA
Congenital lymphangioma is a
malformation of the lymphatic
system. Although
histologically it is a benign
disorder, it has a propensityfor
rapid growth and local
invasion into the muscle,
bone, and underlying tissue,
and it may lead to a decreased
quality of life. This
lymphangioma can occur in
various anatomic locations,
such as the axilla, the anterior
abdominal wall, and the
extremities.
Chest wall lymphangioma,
however, seems to be a
completely different disease,
and prenatal diagnosis of this
condition is rare.

CHEST WALL LYMPHATIC HYGROMA & LEG HAEMNGIOMA
The findings may be unilocular or
multilocular, and the lesions range
in size from several millimeters to
much larger and contain a clear or
cloudy lymphoid fluid.
Lymphangiomas are believed to be
caused by the anomalous
development of the lymphatic
system; the etiology is variable,
probably multigenic.
Lymphangiomas are made up of
lymphatic vessels supported by
connective tissue. No
communication exists between the
normal lymphatic system and the
lymphangioma. Lymphangiomas
have a predilection for local
infiltration of the dermis,
subcutaneous tissue, and soft
tissue and occasionally are
widespread.
In contrast to cystic hygroma, chest
lymphangioma may be a different
congenital anomaly

CHEST WALL LYMPHATIC HYGROMA
We suggest that chest wall
lymphangioma should be
included in the entity of
findings of low incidence for
chromosomal abnormalities.
These lesions are usually not
associated with other
congenital abnormalities or
generalized lymphedema. The
prenatal finding of chest wall
lymphangioma is relatively
simple and easy to diagnose
sonographically, and the
treatment of choice is surgical
excision. The outcome is
relatively favorable, with a
recurrence rate of 10% to 15%,
depending on the technical
possibilities of complete
removal of the pathologic
tissue

digestive system
(749) Cleft palate
(749.0) Cleft palate, unspec.
(749.2) Cleft palate w/ cleft lip
(750) Other congenital anomalies of upper alimentary tract
(750.0) Tongue tie
(750.5) Pyloric stenosis
(751) Other congenital anomalies of digestive system
(751.0) Meckel's diverticulum
(751.2) Imperforate anus
(751.3) Hirschsprung's disease

ABDOMEN
EXOMPHALOS 1/4000
GASTROCHESIS 1/4000
BODY STALK ANOMALY 1/10,000
BADDER EXTROPHY 1/30,000
CLOACAL EXTORPHY 1/20,000

BODY STALK COMPLEX. . Limb body wall complex was
described for the first time by Van
Allen et al. in 1987. Two of the three
following anomalies must be present to
establish the diagnosis:
1. Thoracic and/or abdominal celosomia.
2. Exencephaly or encephalocele with a
facial cleft.
3. Anomalies of the extremities.
The anomaly consists of a poly-
malformation syndrome with a thoraco-
and/or abdomino-schisis associated with
an eventration of the internal organs and
anomalies of the extremities. Russo et al.
in 1993 and later Cusi et al. in 1996
distinguished two different phenotypes
according to the fetoplacental
relationships.
In the phenotype with the “cranio-
placental attachment” a neural tube
closure defect is associated with one or
more complex facial clefts and an
anterior coelosomy, whereas amniotic
bands are inconstant and anomalies of
the extremities, if any, touch primarily
the upper limbs .
In the phenotype with the “abdomino-
placental attachment” the authors
describe:
A persistence of the cavity of the
extraembryonic coelom containing the
exteriorized abdominal organs.

BODY STALK COMPLEX. . The umbilical cord is always
localized on the wall of this bag; it
is short, non-free and is
incompletely covered by the
amnion.
Urogenital anomalies and the
persistence of the primitive cloaca.
Rachidian anomalies
Prevalence : is estimated to
be 0.7 in 10,000 births; 1/14000
BIRTHS
IT IS A LETHAL ANOMALY, IN THE
FIRST 12 WEEKS. THE ABDOMINAL
WALL WITH HERNIATED ORGANS IS
FUSED TO THE PLACENTA. Body
stalk anomaly is a severe
abdominal wall defect caused
by the failure to form a body
stalk and is characterized by
the absence of an umbilical
cord , naval & failure of fusion
of the four flod of abdominal
wall.
THE ASSOCIATED MALFORMATIONS
ARE – NEURAL TUBE
DEFECTS,GASTROINTESTINAL,
GENTOURINARY SYSTEM, HEART,
LIVER & LUNGS.

BODY STALK COMPLEX. Three etiologic mechanisms
have been suggested:
· mechanical obstruction
secondary to compression by
amniotic bands,
.Abnormalities in the germ
disk or
·vascular disruption of the
fetoplacental circulation.
The body stalk malformation
results from a defect in the
germ disc, leading to an
abnormal body folding, an
abnormal amniotic cavity
formation and a failure to
obliterate the extraembryonic
coelom. This accounts for the
short or absent umbilical cord
and the broad insertion of the
amnio-peritoneal membrane
onto the placental chorionic
plate8

BODY STALK COMPLEX-Closing failure of the
Cephalic body fold defects
lead to an anterior
diaphragmatic hernia, ectopia
cordis, sternal cleft, cardiac
defects and an upper midline
omphalocele as observed in
the Pentalogy of Cantrell.
Closing failure of the caudal
body fold results in exstrophy
of the bladder, imperforate
anus, partial colonic agenesis
and agenesis of one umbilical
artery together with a
hypogastric omphalocele.
Aplasia or hypoplasia of the
paraspinous or thoracolumbar
musculature is responsible for
the severe scoliosis.
Insufficiency in both cephalic
and caudal body folding leads
to a combination of the above-
mentioned features.

EXOMPHALOS
1/4000 BIRTHS
RECURRENCE RISK 1%
50% WITH
EXOMPHALOS HAVE
18/13 TRISOMY; AT 12
WEEKS OF
GESTATION,30% AT MID
GESTATION & IN 15%
NEONATES .
BECKWITH WIEDEMANN
SYNDROME-SPORADIC,
AD,AR, X LINKED AND
POLYGENIC
INHERITANCE
ABDOMEN
OMPHALOCELE
OMPHALOCELE

EXOMPHALOS
LESS OFTEN ASSOCIATED
WITH FAILURE IN THE
CEPHALIC EMBYRONIC
FOLD-
PENTALOGY OF CANTRAL
ACRANIA
STERNAL DEFECT
ECTOPIA CORDIS
EXOMPHALOS
FILURE OF CAUDAL FOLD
WITH EXTROPHY OF
BLADDER & CLOACA,
IMPERFORATED ANUS,
COLONICATRESIA AND
SACRAL VERTEBRAL
DEFECTS
ABDOMEN
OMPHALOCELE
OMPHALOCELE

GASTROSCHISIS
1/4000 BIRTH
UMBILICUS IS NORMAL
INTESTINE HERNIATE
THROUGH DEFECT IN
ABDOMINAL WALL JUST
LATERAL & USUALLY ON
RIGHT SIDE OF THE
UMBILICUS
SPORADIC
ABNORMALITY
CHILD REQUIRE TOTAL
PARENTRAL NUTRITION
DURING IMMEDIATE
POSTNATAL PERIOD
DEATH IS AROUD 4
YEARS OF AGE DUE TO
LIVER FAILURE

BADDER EXTROPHY
1/3000 0BIRTH
SPORADIC
ABNORMALITY
DIAGNOSIS:
NORMAL AMNIOTIC
FLUID
URINARY BLADDER
NOT VISUALIZED
ANECHOGENIC MASS
PROTUDING FROM
LOWER ABDOMINAL
WALL

CLOACAL EXTROPHY
½0,000BIRTH
SPORADIC
ABNORMALITY
DIAGNOSIS:
NORMAL AMNIOTIC
FLUID
URINARY BLADDER
NOT VISUALIZED
ANECHOGENIC MASS
PROTUDING FROM
LOWER ABDOMINAL
WALL .
POSTERIOR
ANOMALOUS
COMPONENT-
HERNIATED BOWEL
&/OR
MENINGOMYELOCELE

Digestive system
(749) Cleft palate
(749.0) Cleft palate, unspec.
(749.2) Cleft palate w/ cleft lip
(750) Other congenital anomalies of upper alimentary tract
(750.0) Tongue tie
(750.5) Pyloric stenosis
(751) Other congenital anomalies of digestive system
(751.0) Meckel's diverticulum
(751.2) Imperforate anus
(751.3) Hirschsprung's disease

GASTROINTESTINAL DEFECTS
EOSOPHAGEAL ATRESIA 1/3000 BIRTHS
DUODENAL ATRESIA 1/5000 BIRTHS
INTESTINAL OBSTRUCTION 1/2,000 BIRTHS
HIRSCHPRUNG DISEASE 1/3,000 BIRTHS
MECONIUM PERITONITIS 1/3,000 BIRTHS
HEPATIC CALCIFICATION 1/2000 BIRTHS
ANORECTAL MALFORMATION 1/4000 BIRTHS

ESOPHAGEAL WEB OR RING
Esophageal webs are thin (2-
3mm) membranes of normal
esophageal tissue consisting of
mucosa and submucosa. They
can be congenital or acquired.
Congenital webs commonly
appear in the middle and
inferior third of the esophagus,
and they are more likely to be
circumferential with a central
or eccentric orifice. esophageal
webs and rings are estimated
to occur in 1 in 25,000 to 1 in
50,000 live births. They are
mainly observed in the
Plummer-Vinson syndrome,
which is associated with
chronic iron deficiency
anemia. Esophageal webs are
associated with bullous
diseases (such as
epidermolysis bullosa,
pemphigus, and bullous
pemphigoid), with graft versus
host disease involving the
esophagus, and with celiac
disease.

ESOPHAGEAL ATRESIA & TRACHEO ESOPHAGEL FISTULA
Esophageal atresia and
tracheoesophageal fistulae, found
in about 90% of cases, result from
failure of the primitive foregut to
divide into the anterior trachea
and posterior esophagus, which
normally occurs during the 4th
week of gestation.
Prevalence
Esophageal atresia is found in
about 1 in 3000 births.
Causes
Sporadic defect. 20% may have 18
& 21 trisomy. 50% with it have
cardiac defects. It may part of
VATER defect. 80% patient with
esophageal atresia have tracheo –
esophageal fistula.
RK
LK
NO STOMACH BUBBLE

ESOPHAGEAL ATRESIA & TRACHEO ESOPHAGEL FISTULA
Diagnosis
Prenatally, the diagnosis of
esophageal atresia is suspected
when, in the presence of
polyhydramnios (usually after 25
weeks), repeated ultrasonographic
examinations fail to demonstrate
the fetal stomach.
Prognosis
Survival is primarily dependent on
gestation at delivery and the
presence of other anomalies. Thus,
for babies with an isolated
tracheoesophageal fistula, born
after 32 weeks, when an early
diagnosis is made, avoiding
reflux and aspiration pneumonitis,
postoperative survival is more than
95%.
RK
LK
NO STOMACH BUBBLE

DUODENAL ATRESIA
DUODENAL ATRESIA
At 5 weeks of embryonic life,
the lumen of the duodenum is
obliterated by proliferating
epithelium. The patency of the
lumen is usually restored by
the 11th week and failure of
vacuolization may lead to
stenosis or atresia. Duodenal
obstruction can also be caused
by compression from the
surrounding annular pancreas
or by peritoneal fibrous bands.
Prevalence
Duodenal atresia is found in
about 1 per 5000 births.
DOUBLE BUBBLE

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