I had my 18 weeks U/S & found out that my baby girl has 2 soft markers for Down syndrome a cpc (choroid plexus cyst) in her brain & a EIF (echogenic intracardiac focus) on her heart. They asked me do a amnio test but refused bcuz I would love my little blessing no matter the out come of the results to the test, I just wanna know what are the odds of my baby girl having Down syndrome though. I'm 24 years old with a healthy 6 year old girl & 3 year old boy already. Thank you ;-)
I can understand your concerns over this unfortunate ultrasound development. Unless there is a strong family history, and you are having the first pregnancy after 35 years of age, screening test alone will not be diagnostic of Down's Syndrome. Soft markers on ultrasound indicate a probability of Down’s syndrome in the fetus. These markers are just indicators and not confirmed diagnosis of Down’s, which can be achieved only through amniocentesis. An echogenic intracardiac focus however is considered a high level marker and shows increased probability. CPC is a mid level marker and the two together show a good chance that baby has Down. This should be followed up with amniocentesis.
The screening test results have to be correlated with normal averages. The alpha-fetoprotein or AFP and estriol levels are low in a Down syndrome pregnancy, so their levels would be below the average (less than 1.0 Multiples of the Median [MOM]). The hCG in a Down syndrome pregnancy would be greater than 1.0 MoM. These results are then correlated with fetal age on ultrasound. Then the results are correlated with maternal age. If all the components are greater than 1.0 MoM, and woman is younger than 25 years, then risk is comparatively low. But in a woman 30 years or above, the risk is pretty high.
I know this sounds really confusing. Please discuss this with your Obs and Gyn and a genetic counselor. Take care!
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