Newsletter

Prenatal Diagnosis Research Project to Target 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. Steroids, while effective, do cause side effects in pregnant women and some children. 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.

Please note that this is a research study. In the first phase of the study, we cannot release results of fetal gender testing to you. Thus, the results will not affect your clinical care. However, if we get enough patients enrolled, and our study is accurate, our hope is that in the near future this will transition to early fetal gender diagnosis that can be used clinically.

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 Helene Stroh (Hstroh@tufts-nemc.org) or Diana Bianchi, M.D. (Hstroh@tufts-nemc.orgdbianchi@tufts-nemc.org) at Tufts-New England Medical Center.

© 2007 CARES Foundation, Inc. All rights reserved. Republication or redistribution of CARES newsletter content, including by framing or similar means, is prohibited without the prior written consent of CARES.

Disclaimer: Any communication from CARES Foundation, Inc. is intended for informational and educational purposes only and in no way should be taken to be the provision or practice of medical, nursing or professional healthcare advice or services. The information should not be considered complete or exhaustive and should not be used in place of the visit, call, consultation or advice of your physician or other healthcare provider. You should not us the information in this or any CARES Foundation, Inc. communication to diagnose or treat CAH or any other disorder without first consulting with your physician or healthcare provider. The articles presented in this newsletter are for informational purposes only and do not necessarily reflect the views of CARES Foundation, Inc.

Summer 2007 Newsletter	CAH Studies	CARES Foundation, Inc.


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The studies advertised on these pages may have appeared in previous editions of the CARES newsletter. We update the CAH studies section of the newsletter and website as studies become available. For an up-to-date list, visit http://www.caresfoundation.org/clinical_trials.html .

Prenatal Diagnosis Research Project to Target 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. Steroids, while effective, do cause side effects in pregnant women and some children. 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. Please note that this is a research study. In the first phase of the study, we cannot release results of fetal gender testing to you. Thus, the results will not affect your clinical care. However, if we get enough patients enrolled, and our study is accurate, our hope is that in the near future this will transition to early fetal gender diagnosis that can be used clinically. 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 Helene Stroh (Hstroh@tufts-nemc.org) or Diana Bianchi, M.D. (Hstroh@tufts-nemc.orgdbianchi@tufts-nemc.org) at Tufts-New England Medical Center.

Fund Research While You Shop Shop Online at iGive.com and Help Us Find a Cure CARES Foundation, Inc. is a registered member of iGive. At the mall at www.igive.com you can shop over 600 stores and help CARES at the same time. There is no cost or obligation to join, and a percentage of your purchase is donated to CARES. To Designate CARES as your charity of choice, search the keywords: CARES, CAH or congenital adrenal hyperplasia. Since 2005, CARES has awarded over $150, 000 for research. Please help us keep it up! Shop, Shop, Shop!

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© 2007 CARES Foundation, Inc. All rights reserved. Republication or redistribution of CARES newsletter content, including by framing or similar means, is prohibited without the prior written consent of CARES. Disclaimer: Any communication from CARES Foundation, Inc. is intended for informational and educational purposes only and in no way should be taken to be the provision or practice of medical, nursing or professional healthcare advice or services. The information should not be considered complete or exhaustive and should not be used in place of the visit, call, consultation or advice of your physician or other healthcare provider. You should not us the information in this or any CARES Foundation, Inc. communication to diagnose or treat CAH or any other disorder without first consulting with your physician or healthcare provider. The articles presented in this newsletter are for informational purposes only and do not necessarily reflect the views of CARES Foundation, Inc.