Every year, about 6,000 babies are born with Down syndrome, equating to approximately 1 in every 700 births. While there is no cure for Down syndrome, thanks to advances in medicine, many children with the condition grow up to lead happy, healthy lives.
When is Down Syndrome Diagnosed?
It's possible to diagnose Down syndrome during pregnancy. In fact, The American College of Obstetricians and Gynecologists (ACOG) recommends all women take part in screening and/or diagnostic tests at the beginning of pregnancy, regardless of age. This is especially true if you have a family history of Down syndrome. About 1% of cases occur as a result of hereditary factors.
How is Down Syndrome Diagnosed?
There are several ways to diagnose Down syndrome, including screening and diagnostic tests.
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Screening tests. Screening tests are a type of noninvasive prenatal test used to analyze genetic information that enters your bloodstream from the placenta. Screening tests can indicate your risk of having a baby with Down syndrome, but they're unable to make an official diagnosis.
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Diagnostic tests. Diagnostic tests allow for more in-depth analysis and can provide an official diagnosis. Two of the most common diagnostic tests used to diagnose Down syndrome are chorionic villus sampling (CVS) and amniocentesis.
What is Chorionic Villus Sampling?
During chorionic villus sampling, your general practitioner or OB/GYN draws a sample of cells from your placenta and analyzes the fetal chromosomes. Usually, it's recommended you undergo CVS during the first trimester of your pregnancy. The test is safe, accurate, and presents very little risk of miscarriage.
What is Amniocentesis?
Amniocentesis is a little more invasive than CVS. During this type of diagnostic test, your general practitioner or OB/GYN uses a needle to extract a sample of amniotic fluid from around the placenta. After gathering the sample, they analyze the chromosomes in the fetus under a microscope. Doctors typically recommend you undergo amniocentesis during the second trimester of your pregnancy, sometime after the 15th week. Like CVS, amniocentesis presents little risk of miscarriage.
What Can I Do if My Child is Diagnosed With Down Syndrome?
If a screening test or diagnostic testing reveals that your child may have Down syndrome, your general practitioner or OB/GYN can refer you to a genetic counselor who can better explain the results.
Down syndrome presents a variety of side-effects, including physical and intellectual disabilities. However, clinical studies show that early intervention for infants and children with Down syndrome can significantly improve their quality of life and overall outcomes.
During your genetic counseling appointment, make sure to bring a list of questions and/or concerns. Your genetic counselor can better explain what to expect and provide you with options concerning what steps to take next.
