Case of CHD at 12-14 weeks, with Tricuspid regurgitation at nuchal scan. At 8/9 weeks heart position looks like "ecttopia cordi" (sorry for absent avi. where everything can see)

1. Pr enatal
dia gnosis of fetal
hear t anomalies
Ultrasound screening
Bogdan M. Muresan

2. The incidence of CHD (Congenital Heart
Disease) is around 8 to 9 per 1000 live
births
 If all subtle cardiac anomalies are
counted (bicuspid Ao valve, aneurysm of
atrial septum and LSVC persistent) may
be in order of 50 per 1000 live births.
 The suspicion for CHD during a routine
ultrasound is a risk factor with highest
yield for CHD (40 to 50%)

3. The majority of fetuses with CHD have no known
risk factors.
SCREENING for CHD to every pregnant women -
routine scan: nuchal scan (12 weeks) and
anomalies scan (20-22 weeks)
Risk factors for CHD
 Fetal: chromosomal abnormalities, extracardiac anatomic
abnormalities, fetal cardiac arrhytmia, suspected cardiac anomaly
on routine ultrasound, thickened nuchal translucency,
monochorionic placentation;
 Maternal: family history of CHD, maternal metabolic disorders
(diabetes, phenylketonuria), maternal teratogen exposure,
pregnancy from assisted reproduction techniques, maternal
obesity
 Alferd Abuhamad, Rabih Chaoui: A Practical Guide to Fetal Echocardiography

4. Nuchal scan (11-13WG)
soft markers for aneuploidies and CHD (in
euploid cases):
NT thickened; TR regurgitation; DV with “a”
reverse

5. CASE: 8 weeks pregnancy -
refferal for a “problem”?

6. Is here a normal pregnancy ???

7. Routine exam at 8 weeks search for: localisation / number of fetus-placenta
(intrauterine pregnancy), presence of FHR (normal FHR), embryon adnexa (normal
yolk sac)

8. Is there a possible
problem ?

9. Embryo anatomy: heart is almost complete
developed; but it is impossible to asses
heart anatomy
- look to heart position in thorax??

10. Untill 10-11 weeks there is a normal
exomphalos (with bowel contents)

11. Transverse view of embryo thorax

12. “ Ectopia cordis” ????

13. http://www.sonoworld.com/TheFetus/page.aspx?
id=2687

14. Patient was reevaluated at 11
weeks (nuchal scan)
unfortunately CRL < 45 mm (42,2mm)
but:……

15. Normal fetal anatomy at this age

16. 3D image revealed normal fetal
anterior wall
(there is no place for “ectopia
cordis”)

17. Nuchal scan
(CRL between 45-84 mm or 11-13
WG)
Normal midsagital view – fetal profile (NT, FMF
angle, nasal bone, intracerebral translucency)

18. Normal fetal anterior wall:
umbilical cord insertion and heart
localisation

19. Good result at nuchal
scan:
PAPP-A, freeBetaHCG, NT
Combined risk assessment (risk for
chromosomal abnormalities under 1/1000)

20. New soft markers in nuchal scan: nasal
bone, FMF angle, Tricuspid and DV flow
(routinely)
The presence of Tricuspid regurgitation –
it is associated with chromosomal
abnormalities and high risk for CHD in
euploid fetuses)

21. Possible AVSD
(if it is present - increases T21 risk
to ¼ and karyotyping is necessary)

22. After 10 days we performed
a fetal echocardiography
AVSD ???

23. or Mitral atresia with VSD

24. Great vessel outflow
tract ???

25. Outflow Tract:
- Ao and Pulmonary Trunk have common origin in Right
Ventricle
- They are parallel at origin
- Pulmonary Trunk smaller than Ao

26. DORV (VSD included) with
mitral atresia/stenosis (or
AVSD) and Pulmonary
stenosis (possible ?)

27. DORV diferential diagnosis: conotrunkal anomalies

28. Extracardiac anomalies -
ventriculomegaly

29. Management
 We offer karyotyping
(CVS or  If karyotype is normal:
amniocentesis)  search for 22q11
because it is frequent microdeletion (di
associated with George)
chromosomal
abnormalities –  Cardiologist solution
T13,18). Poor (search for real CHD at
prognosis: 18-20 weeks and
extracardiac anomalies prognosis depends on
possible
 Abnormal karyotype: lesions/extracardiac
we offer TOP anomalies

30. “ Ultrasound anomalies
scan” at any pregnancy
ages ?
 Patient was referred for other reason (in
this case)
 Look and question for every possible
anomalies
 Have always suspicions
 To recognize the limits of ultrasound to
asses fetal anatomy at every age of
gestation

31. Multumesc!
T hank you!
www.medicinafetala.ro