Aa
Worried what to do next
I am 29 and recieved news that I have a 1:237 chance of my baby havings downs. I have an appointment with a genetic counselor but I'm not sure what to do about further testing, any recommendations.....
MEDICAL PROFESSIONAL
Hi!
Well, a 1:237 chance is not a very high chance. 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. 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. On Ultrasound, collection of fluid at the back of the fetal neck, called nuchal transluceny is taken as a risk factor for Down syndrome. Having said all this—the combined results can only predict the risk—it does not say that fetus has Down's Syndrome. For confirmation amniocentesis will have to be done. Please discuss with your doctor. Take care!
Well, a 1:237 chance is not a very high chance. 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. 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. On Ultrasound, collection of fluid at the back of the fetal neck, called nuchal transluceny is taken as a risk factor for Down syndrome. Having said all this—the combined results can only predict the risk—it does not say that fetus has Down's Syndrome. For confirmation amniocentesis will have to be done. Please discuss with your doctor. Take care!
With my last pregnancy I was very high risk 1 in 70 and I set up a ultrasound just for early testing for Downs and he was fine after I had that. They wanted to do a amniocentesis to be 100 percent but there is risks with doing that. For me I just wanted to know if my baby had Downs so I could get myself ready and be informed. He would be loved any way.
Your baby should be find but if your worried ask your Dr to do a ultrasound so you can be sure.
Your baby should be find but if your worried ask your Dr to do a ultrasound so you can be sure.
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