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Volunteers for Research Studies Needed!

Prenatal Diagnosis Research Project to Taret Which Women Should Take Dexamethasone

During Pregnancy

We are seeking the help of couples at risk for having an affected child with congenital adrenal hyperplasia to participate in a research project in Boston. As you know, some pregnant women are offered the opportunity to take dexamethasone early in pregnancy to reduce the risk of masculinization of a female fetus affected with congenital adrenal hyperplasia (CAH). The problem is that only 1 in 8 fetuses will be female AND affected, so 7 out of 8 possible fetuses will receive unnecessary treatment. Our research aims to target dexamethasone treatment to only female fetuses at high risk of having CAH.

The purpose of this research study is to develop a simple prenatal test that will use blood samples from a pregnant woman and her partner. The pregnant woman’s blood will be used to determine if the fetus is male or female using cell-free fetal DNA testing. This can be done as early as 7 weeks following the first day of the last menstrual period. If both parents have different mutations, the partner’s blood will be used to test for the presence of his mutation in the pregnant woman’s blood, which was inherited by the fetus.

The study involves 1-2 blood samples from the pregnant woman and 1 sample from her partner. There is no travel required. We will arrange to have the blood drawn in your hometown.

To find out more information about participating in the study, please contact Barbara O’Brien, M.D. (bobrien@tufts-nemc.org ) or Diana Bianchi, M.D. ( dbianchi@tufts-nemc.org ) at Tufts-New England Medical Center (phone number: (617) 636-1468).

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