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Pregnancy Forum > First Trimester of Pregnancy Forum > Testing for Down Syndrome : lymphatic system of the fetus +
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Q: Testing for Down Syndrome : lymphatic system of the fetus +
asked by: DoctorQuestion on July 30th, 2007
My husband and I went in for our first OB visit at 10 weeks, 6 days and had an internal ultrasound performed (I do not know how up to date the machine is since we live in a small community) and we were told that our fetus has a NT of 3.8mm. We were informed that the normal is 3.0mm and under. We were referred to the Maternal & Fetal medicine department at the Toledo Hospital for more tests. When I asked our usual Dr. about our probability for a Downs baby he could not give me one. I am 29 years old and my husband is 30years old. I was wondering what our chances are for a DS child is with the age and NT reading? Also could it be that the lymphatic system of the fetus was not develpoed enough by this point to adequately remove fluid?


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Dr. Nikola Gjuzelov , MD
replied on August 20th, 2007
First Trimester of Pregnancy Answer A3210
Nuchal translucency (NT) is only one of the parameters used for predicting Down’s syndrome. NT is an ultrasound parameter that is useful if it is measured between the 10-14th weeks of gestation. During this time of gestation, the fetal lymphatic system is still not developed enough to evacuate fluid from the back of the neck. After the14th gestational week, the fetal lymphatic system becomes developed enough to remove the fluid even if there is Down’s syndrome so the test has no sense.

There are more parameters for predicting Down’s syndrome such as: alpha-fetoprotein (AFP), unconjugated estriol (uE3), human chorionic gonadotropin (HCG), inhibin A and pregnancy-associated plasma protein A (PAPP-A). All these parameters are measured in the mother’s blood. A mother’s age and the age of the pregnancy are also very important parameters in detecting and predicting Down syndrome.

It is important to know that even the best combination of ultrasound findings and other blood parameters are only predictive and not diagnostic. For a true diagnosis, the chromosomes of the fetus must be examined. That can be achieved by performing an amniocentesis. However, amniocentesis brings with it the risk for miscarriage (1%) so it should be performed only if the risk for Down’s syndrome (according to the previous parameters) is 1 to 250 or larger.





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