Markedly Elevated Alpha-Fetoprotein and Positive Acetylcholinesterase in Amniotic Fluid from a Pregnancy Affected with Dystrophic Epidermolysis bullosa
作者:
A. Drugan,
A. Vadas,
P. Sujov,
R. Gershoni-Baruch,
期刊:
Fetal Diagnosis and Therapy
(Karger Available online 1995)
卷期:
Volume 10,
issue 1
页码: 37-40
ISSN:1015-3837
年代: 1995
DOI:10.1159/000264190
出版商: S. Karger AG
关键词: Epidermolysis bullosa;Prenatal diagnosis;α-Fetoprotein;Acetylcholinesterase
数据来源: Karger
摘要:
Prenatal diagnosis of dystrophic epidermolysis bullosa (DEB) has been achieved in the past by fetal skin sampling. However, this invasive procedure is associated with a relatively high rate of pregnancy loss. We present a consanguineous Arab family ascertained by 2 affected offspring to be at risk for DEB. In a previous gestation, fetoscopic skin sampling 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 of an affected fetus. Fetal skin biopsy was declined. At term, the patient delivered a male infant with DEB that expired on the 3rd day of life. It is apparent from our experience and from review of the literature that in some genodermatoses, markedly elevated alpha-fetoprotein and positive acetylcholinesterase in amniotic fluid are highly suggestive of an affected fetus and may obviate the need for fetal skin sampling in the prenatal diagnosis of these disorders.
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