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Prenatal Checkups & Tests

Baby Is At Risk For Down Syndrome?

I found out my baby is at risk for Down syndrome. Now what?

First take note that “at risk” is not the same as “has.” The next step is to determine whether or not your baby actually has Down syndrome. In most cases, that’s done with an amniocentesis, which involves the insertion of a large needle into the uterus to withdraw a small sample of amniotic fluid. The baby sheds cells into the amniotic fluid, so a lab professional can analyze the amniotic sample to see if your baby indeed has Down syndrome. Alternatively, a healthcare provider could perform chorionic villus sampling (CVS), which looks at a small sample of the placenta, to check for the presence of Down syndrome. CVS can be performed much earlier in pregnancy than amniocentesis. CVS can be done in the first trimester; amniocentesis is generally performed around at 15 to 20 weeks of pregnancy. Both tests involve a slight risk of miscarriage. (Typically, the odds of a miscarriage with amniocentesis or CVS testing are less than 1 in 100.)

Before you schedule any testing, though, think long and hard about what a potential diagnosis of Down syndrome might mean for your family, and why you might want to know. While it’s true that babies with Down syndrome also have an increased risk of certain heart and other medical defects, most obstetricians and hospitals are now fully equipped to deliver and care for a child with Down syndrome. Only you, though, can decide the best course of action for your family. If prenatal diagnostic testing results in a diagnosis of Down syndrome, your healthcare provider will talk you through your options, which may include continuing or terminating the pregnancy.

Plus, more from The Bump:

Genetic Testing Basics

Chromosomal Disorder Testing

Do I Need Genetic Counseling?

By Sharon Phelan, MD, professor of obstetrics and gynecology at the University of New Mexico - Albuquerque