My wife, 29 year old and 14 weeks pregnent, recently had an enhanced MSAFP screening, which indicated a one in 240 chance of defects. Now we are anxious about the next step to take.
To supply a bit of background for other readers, let me start by explaining about MSAFP (maternal serum alphafetoprotein) screening.
Early in gestation, the fetus synthesizes a protein called alphafetoprotein (AFP). Most of the AFP is found in fetal, urine which crosses the placenta into the mother's circulation and can be evaluated by testing the mother's level in her blood. When this protein leaks from the capillaries of the fetus into the anmiotic fluid, a larger concentration could be picked up in the maternal serum (MS).
Thus, MSAFP is a test for alphafetoprotein in the mother's blood. Abnormally high levels MAY indicate that the fetal skin is not be intact (as in neural tube defects). Neural tube defects are fetal anomalies such as spinal bifida or anencephaly. Both of these defects can lead to death or severe disability.
AFP levels combined with a (hCG) human chorionic gonadotropin levels (enhanced MSAFP) can detect Down Syndrome as well. Levels of AFP would be low. This condition occurs in one in 800 live born infants.
I'm assurming that the one in 240 risk means that your baby is at a slightly higher risk for Down syndrome based on the ratio that you provided.
Let me tell you that this is a new and inexact science. We are guessing based on probabilities. Many defects can be detected on ultrasound, which is the next step in this screening process. Your care provider may also recommend a repeat of the screening. Waiting a few weeks before the next ultrasound may be recommended. I'm not sure if you are seeing an obstetrician or a family practice physician, but at this point, I feel that a board certified OB/GYN would be your best choice. A perinatologist could be consulted as well. This is a doctor who specializes in potential complications of the pregnancy and newborn.
Try not to be exceptionally worried. There are many false negative results associated with these tests. The March of Dimes is a wonderful resource for you as well. They have videos, pamphlets and lists of support groups in your area.
Thanks and I wish you best of luck on your journey.
