Risk Factors

thatlead to Genetic
disorders
 What Is a Gene?
• Is the basic unit of heredity
• carry the information that determines
your traits, which are features or
characteristics that are passed on to
you — or inherited — from your
parents.
What Is a Gene?

• Each cell in the human body

contains about 25,000 to
35,000 genes.
Where are these important genes?
• Genes are found on tiny
spaghetti-like structures
called chromosomes
• chromosomes are found
inside cells
Where are these important genes?
• The body is made of billions
of cells.
• Cells are the very small units
that make up all living
things.
• In humans, a cell nucleus
contains
46 individual
chromosomes

• or 23 pairs of
chromosomes
(chromosomes come
in pairs,remember?
23 x 2 = 46).
 Genetic Disorders
• A congenital abnormality or
genetic disorders are disorders
resulting from a defect in the
structure or number of genes or
chromosomes.
• It can be the result of a
chromosomal, hereditary, or
environmental issue.
 Risk factors
• Pregnancy over age 35
• A family history of a genetic
disorder
• Having a past pregnancy that
involved a congenital abnormality
• Exposure to drugs or infection*
• Prior child with a genetic disorder
 Risk factors
• One parent has a chromosomal
abnormality*
• Advanced paternal age (40 or
older)
• Multiple miscarriages or prior
stillbirth
• Consanguinity(closely related) couple

For example:
- brother & sister have about 50% of their
genes in common;

-First cousins – 12% of their genes in

common
Common test determination of genetic
abnormalities
1. Amniocentesis
2. Chorionic Villus Sampling
3. Percutaneous Umbilical Blood
sampling
4. Fetal Imaging
5. Fetoscopy
 Percutaneous umbilical blood
sampling (PUBS) or cordocentesis
 Fetal Imaging – MRI (Magnetic
resonance imaging & Ultrasound
MRI – Magnetic resonance
imaging
Fetoscopy
 Key points:
• The test for genetic disorders introduce a
risk of miscarriage
• Women undergoing the tests remain in the
health facility for at least 30 minutes after
the procedure
• Watch out for vaginal bleeding, uterine
cramping or abnormal FHR