Geneticist Questions Down Syndrome

Are there ways to test for Down syndrome?

My brother's son was diagnosed with Down syndrome once he was born, and I'm wondering, are there ways to screen for this before the baby is born? How would I know if my baby has this as well?

6 Answers

Thank you for your email. I am currently out of the office and will return Friday April 27, 2023. During this period I will have limited access to my email. For Immediate assistance please contact Dr. Cheryl Motta at cheryl.motta@pediatrix.com Thank you, Maria Pierce, MD
There are several ways to screen for down's syndrome before the baby is born. The tests are done in mother's blood and amniotic fluid. Best is to discuss with the obstetrician and genetic counselor who can advice the best approach.
Yes, a lot of the standard routine obstetrical screens in first and second trimester are meant to detect the risk for having a baby with trisomy 21, or other genetic conditions.
Fetal ultrasound and noninvasive free fetal DNA. Your OB can guide you for trisomy screening
Yes, it is possible to diagnose Down syndrome prenatally either via invasive procedures such as amniocentesis or via non-invasive blood tests.

Luigi Boccuto, MD
There are very good ways of screening for Down syndrome. Best is through mother’s blood in early pregnancy. Contact your Obstetrician early in pregnancy so the test can be done for you. Taste is called NIPT- noninvasive prenatal test.

Kwame Anyane-Yeboa