Winter 2003                                     CARES Foundation, Inc.
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*Prenatal Diagnosis & Treatment for Classical CAH

Elizabeth Kitzinger

Weill Medical School of Cornell University


* NOTE: Since time of publication in 2003, CARES has published additional articles on this controversial subject. Please read our 2007 and 2009  articles for a more in-depth discussion of the pros and cons of Dexamethasone prenatal treatment.

 

While newborn screening for CAH is very much in the news these days, few people are aware that prenatal diagnosis and treatment are also available. Prenatal treatment of CAH is uniquely important for affected girls, because treatment of the mother with low-dose dexamethasone, which crosses the placental barrier, prevents the formation of ambiguous (male-like) genitalia in the developing female fetus. This makes corrective surgery unnecessary and permits definitive sex assignment at birth, because the external genitalia are correctly matched with the perfectly normal internal sex organs of CAH-affected girls.

Prenatal treatment has been used since 1984. In the United States, the only center routinely offering prenatal diagnosis and treatment is Dr. Maria New’s clinic at NewYork Presbyterian Hospital-Weill Medical Center (Cornell) in New York City. Dr. New has treated over 600 pregnant women at risk for the birth of a CAH-affected child. Treatment begins as soon as pregnancy is confirmed. Chorionic villus sampling at 9-11 weeks’ gestation permits sex karyotyping, and treatment is discontinued if the child is male. DNA analysis of the fetus permits diagnosis of the child as affected (classical or nonclassical forms of CAH can be distinguished) or unaffected. Classically affected females are then treated to term. The results are remarkable.

Dr. New maintains contact with all children treated prenatally, and has found no adverse developmental consequences. Thus, with nearly 20 years’ experience, the treatment appears to be safe for mother and child, though there are endocrinologists who are wary of using dexamethasone prenatally even now.

It is important to note that prenatal diagnosis and treatment should ONLY be done in a clinic like Dr. New’s with long experience and commitment to follow-up. Only by tracking the growth of prenatally treated children can the long-term effects of treatment be exhaustively studied. Administering dexamethasone to achieve normal genitalia requires the judgment and experience of specialists. The benefits to families of classically affected girls cannot be underestimated. We hope that the availability of this treatment will be shared with all families at risk for the birth of CAH-affected children.

     

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