Birth Defect Testing Simplified

How healthy is my baby is the first questions parents ask. Many parents will first want to know what their chance of having a baby with Down's Syndrome, or a baby with any chromosome problem is. About 3% of all pregnancies have structural or genetic fetal abnormalities, and parents want to know how healthy their pregnancy is, as often the have important decisions to make. In fact the American College of Obstetricians and Gynecologists position is that "screening and invasive diagnostic testing for aneuploidy be offered to all pregnant women...regardless of maternal age." this however is not the way most gynos practice, and in fact not reflective of most insurance coverage which varies widely on what tests they will cover for an individual patient. The risks are greater as mom gets older.

If we look at the risks in the whole population, if you are twenty years old and having a baby, then your risk is about 1/1600 of conceiving a baby with Trisomy 21 or Down's Syndrome as it is known. And at age 20 your chance of having a pregnancy with any chromosomal problem is about 1/500. Many of these cases will actually miscarry, so it is a different statistic to ask what is your chance of having a live birth with one of these disorders. By age 35 the risk of Down's is about 1/350, and by age 45 the risk is 1/30, and by age 45 the risk of having a pregnancy with any chromosome disorder is about 1/20. Your gyno can help you with the statistics for your specific age.

There are many ways at each stage of pregnancy to determine this. Getting a pelvic ultrasound is a genetic screening test. It is not very sensitive however and it only picks up about 60% of the abnormalities in pregnancy, even if done after all the organs are both formed and large enough to visualize completely. It was discovered 30 years ago that certain birth defects are associated with abnormal blood levels of certain proteins and certain hormones. For many years now we have used this test, combined with more intense testing of older mom's to try to determine which babies have some of the most common serious birth defects.

But testing ultimately, for many women, meant invasive testing through sampling the amniotic fluid with a test called amniocentesis. Now we have NIPT by testing cfDNA! While this many not on the surface sound "simplified", this testing of mom's blood during early pregnancy can determine if your baby's chromosomes are normal. It stands for "None Invasive Prenatal Testing" and it's looking for cell-free fetal DNA circulating in mom's blood. This test does not pick up all abnormalities, and should not be done without early ultrasound tests of fetal health. This has the ability to revolutionize care, as currently about 80-90% of serious birth defects are not picked up until about 18-20 weeks of pregnancy due to the tests that are most frequently used. But it gives parents an option of knowing the health of the baby in a much safer way than amniocentesis. Several companies are now doing this test, and in fact, one option is to find out the sex of your baby, very reliably, and much earlier than ever before!


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