Risks of Down Syndrome

QUESTION

Dear Midwife,
I am 34 years old and currently 20 weeks pregnant. At 18 weeks I had an anatomical ultrasound (I assume this is also what is referred to as a level II ultrasound). The u/s doctor told me there were 2 EIF soft markers on the baby's heart and that my chances of having a baby with down syndrome were 1:220 or so. Immediately thereafter, I had an appointment with my OB who gave me a lot of good information. I then went for the AFP test. Those results came back as 1:5000 for down syndrome and 1:1000 for other trisomy birth defects.

My question is: should I still be concerned, or did the risk of downs syndrome drop? I have a follow up u/s in 3 weeks. Please let me know your thoughts on my situation.

Many thanks.

ANSWER

When they say "soft markers," that's what they mean, they do not have hard data that say that there is a problem. It sounds like even in the very worst case scenario you've been presented, you have a 219 out of 220 chance of having a normal baby. I'd go with that!

-- Cynthia, CNM. PhD.

Cynthia Flynn

Cynthia Flynn, CNM. PhD, is the General Director of the Family Health and Birth Center which provides prenatal, birth, postnatal, gynecological and primary health care to underserved women and their families in Washington, D.C. Recently Cynthia served as Associate Professor of Nursing at Seattle University. There she not only taught, but remained in full scope clinical midwifery practice at Valley Medical Center where she cared for pregnant and birthing women, and practices well-woman gynecology, family planning, and treatment of sexually transmitted diseases.

Cynthia founded Columbia Women's Clinic and Birth Center, where she took care of pregnant women and infants up to two weeks of age and attended both birth center and hospital births. Before Cynthia earned her CNM, she worked as a registered nurse in labor and delivery and postpartum and is a certified Doula and Doula trainer.