Birth defects testing is done during pregnancy to look for possible problems with the baby (fetus). A birth defect may have only a minor impact on a child's life. Or it can have a major effect on quality or length of life.
You and your doctor will decide which tests are right for you. You may have no tests, one test, or many tests.
Talking with a genetic counsellor may help you make decisions about testing. The counsellor is trained to help you understand these tests. He or she can also help you find resources for support.
You may have a screening test or a diagnostic test. Or you may have both types of tests. Screening tests show the chance that a baby has a certain birth defect, such as Down syndrome, spina bifida, or trisomy 18. Diagnostic tests show if a baby has a certain birth defect.
In some cases, the doctors look at the combined screenings that you've had over a period of time. This is called an integrated screening.
Chorionic villus sampling (CVS) looks at cells from the placenta. To do the test, your doctor may put a thin tube through your vagina and cervix to take out a small piece of the placenta. Or the doctor may take out the piece through a needle in your belly. This test can diagnose many genetic diseases. But it can't find problems with the spinal cord.
Amniocentesis looks at the amniotic fluid that surrounds your baby. Your doctor will put a needle through your belly into your uterus and take out a very small amount of fluid to test.
There is a small risk of a miscarriage after a CVS or amniocentesis. Your doctor or genetic counsellor can help you understand this risk. These tests are generally very safe.
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Current as of: November 21, 2017
Patrice Burgess, MD, FAAFP - Family Medicine
& Adam Husney, MD - Family Medicine & Kathleen Romito, MD - Family Medicine & Elizabeth T. Russo, MD - Internal Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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