2. DEFINITION
A genetic disorder is a genetic problem caused by one or more
abnormalities in the genome, especially a condition that is present
from birth (congenital). Most genetic disorder are quite rare and affect
one person in several thousand or millions.
3. PURPOSES
• Provide concrete, accurate information about inherited disorders.
• Reassure people who are concerned that their child may inherit a
particular disorder that the disorder will not occur.
• Allow people who are affected by inherited disease to make
informed choice about future reproduction.
• Educate people about inherited disorder and the process of
inheritance.
4. • Offer support by training health care professionals to people who
are affected by genetic disorders.
• Comprehend the medical facts, including diagnostic, probable
course of the disorder and available management.
• Possible adjustment to the disorder in an affected family member.
5. CAUSES AND RISK FACTOR
• Family history of a genetic disease.
12. CARRIER TESTING
This is used to identify people who carry one copy of gene mutation
that, when present in two copies causes a genetic disorder. If both
parents are tested, the test can provide information about a couple’s
risk of having a child with a genetic condition
13. PREMARITAL GENETIC COUSELING
COMPONENT
A PARENT WITH GENETIC DISORDER.
If the adult onset genetic disorder (cancer, hypertension,
diabetes mellitus, hemophilia, thalassemia, pre term baby,
down syndrome, congenital heart disease, ) should diagnose
before their marriage
14.
15. • If from one of parent is carrier of genetic disease, the offspring may
have 25% chance will have disease and 25% chance to become a
carrier of a genetic disease, And 50% will not affect by it.
16.
17. • If both the parents are carrier than there will be 50% of chance have
a carrier child, 25% will have unaffected child and 25% will be
affected from genetic disease.
18. LIFE STYLE
Life style with potential negative effects are sedentary life style
over eating or poor nutrition, insufficient rest sleep, poor
personal hygiene. Other habit process negative effects are use of
Tobacco and alcohol.
19. AGE OF CONCEPTION
BERORE 17: The children of teenage mother are more likely to be born
prematurely with the low birth weight.
AFETR 30: As age increased the more chance for down syndrome new
born, or mental retarded baby. Not only baby but mother get affect with
complication of pregnancy, induced diabetes and high blood pressure etc.
20. CONSAGUINITY
Consanguineous couples face increased the risks of having children
with autosomal recessive disorders. Consanguinity means the
property of being from the same kinship as another person. in that
aspect, consanguinity is the quality of being descended from the same
ancestor as another person. There are 4 degree of consanguinity
21. 1st degree: Sister marry Brother their Child has 50% chance
genetic disease
2nd degree: Sister’s son marry with brother’s daughter their child may
have 25% chance to get genetic disease.
22. 3rd degree: Great grandson marry with great granddaughter their
child having 12.5% chance for genetic disease.
4th degree: Son of great granddaughter marry with daughter of great
grandson having 6.25% of chance child with genetic disease.
23. DIET PATTERN
Adequate nutrition is important during life time. Some may eat more
(over eating), some may eat less food (less eating). The BMI is an
attempt to quantify the amount of tissue mass in an individual, and
then categorized that person as underweight or obese. commonly
accepted BMI ranges are under weight :18.5, they should gain their
weight by healthy, wholesome and balanced diet (which include all
vitamins and minerals) obese: over 30 and they should avoid junk
food, tinned and fatty food. In case of salt intake should 5gram per
day.
24. ENVIRONMENTAL EFFECT
Nearly all disease result from a complex interaction between an
individual’s genetic make-up and the environmental agents that he or
she is exposed to. examples of environment agent mold, ozone,
pesticides, air pollution, cleaning solutions, dust mites, chemicals
(phenol, aluminum) exposure to radiation and medications.
29. Pre-and peri conceptional supplementation of vitamins, including
folic acid (3month before planning for pregnancy, 3 month after
conception), for women in reproductive age group to reduce the risk
of neural tube defect.
30. • Encourage women to procreate at the ideal reproductive ages (20-30
years) to reduce non-disjunction chromosomal disease.
• Improve quality of birth care.
