MARKEDLY ELEVATED ALPHA-FETOPROTEIN AND POSITIVE ACETYLCHOLINESTERASEIN AMNIOTIC-FLUID FROM A PREGNANCY AFFECTED WITH DYSTROPHIC EPIDERMOLYSIS-BULLOSA

Prenatal diagnosis of dystrophic epidermolysis bullosa (DEB) has been achieved in the past by fetal skin sampling. However, this invasive pr ocedure is associated with a relatively high rate of pregnancy loss. W e present a consanguineous Arab family ascertained by 2 affected offsp ring to be at risk for DEB. In a previous gestation, fetoscopic skin s ampling for prenatal diagnosis yielded a false-positive result. In the index pregnancy, abnormally elevated amniotic fluid alpha-fetoprotein (13.7 MOM) and positive acetylcholinesterase were highly suggestive o f an affected fetus. Fetal skin biopsy was declined. At term, the pati ent delivered a male infant with DEB that expired on the 3rd day of li fe. It is apparent from our experience and from review of the literatu re that in some genodermatoses, markedly elevated alpha-fetoprotein an d positive acetylcholinesterase in amniotic fluid are highly suggestiv e of an affected fetus and may obviate the need for fetal skin samplin g in the prenatal diagnosis of these disorders.