Genetic screening is a process used to determine a child's risk
of inheriting certain diseases or birth defects from his or her
parents. Couples planning on having a baby might be concerned about
illnesses in the family that their child might inherit. The best
time to have a genetic screening done is before you get pregnant,
but it can also be done during your first prenatal visit or later
in your pregnancy.
Who Should Have Genetic Screening?
Common reasons for having genetic screening include:
You will be 35 years old or older when you deliver your
You already gave birth to a child with a hereditary disease or
, caused by two defected genes, affects the lungs and pancreas.
Sickle cell anemia
, which is more common in Blacks of sub-Saharan origin, affects the red blood cells.
What Should I Know Before Having Genetic Screening?
You should find out about the medical history of your family,
including hereditary diseases in your mother's and father's
families. If possible, ask your parents and your partner's parents
about any abnormalities, disabilities, or mental retardation in the
family. Make a record of any of the following personal
Exposure to environmental hazards before or during pregnancy
or other radiation; chemicals used at work, home, or with
Any prescription or nonprescription drugs you took before
pregnancy or before you knew you were pregnant
Any history of alcohol or drug use
What Takes Place During the Genetic Screening Process?
During the genetic screening process, your healthcare provider
will ask you and your partner for a detailed family history of
diseases, disorders, and birth defects. You may be given blood
tests. If you are already pregnant, you might be given tests to
examine the chromosomes and condition of the fetus. Examples of
genetic screening tests given during pregnancy include:
Blood tests to check the levels of alpha fetoprotein (at 15 to
19 weeks of pregnancy), with possible follow-up tests to look
for neural tube defects
scans to check for birth defects of the brain,
heart, spine, arms, legs, and other organs (after the 15th week of
Chorionic villus sampling (CVS) to check for chromosomal
abnormalities (between the 9th and 12th week of pregnancy)
After the screening and tests, your healthcare provider will
discuss the results with you and make recommendations about any
treatment that may be beneficial. Treatment is a personal choice
that is left entirely up to you. Your healthcare provider should
provide you with lots of information about treatment options so
that you can make informed choices.
Please be aware that this information is provided to supplement the care
provided by your physician. It is neither intended nor implied to be a
substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER
IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the
advice of your physician or other qualified health provider prior to
starting any new treatment or with any questions you may have regarding a