Prenatal diagnosis of neural tube defects: experiences with acetylcholinesterase gel electrophoresis.

作者: Barbara F. Crandall , Walter Kasha , Myles Matsumoto

DOI: 10.1002/AJMG.1320120314

关键词: FetusObstetricsEndocrinologyPrenatal diagnosisCystic hygromaInternal medicineAmniocentesisPregnancyAnencephalyOmphaloceleAlpha-fetoproteinMedicine

摘要: We assessed the qualitative test for AChE in addition to AFP diagnosis of NTD 420 AF samples selected from 16,000 second trimester amniocenteses. Three-hundred and thirty were normal ninety abnormal pregnancies. There three false positives by this test, two stored containing fetal blood one a clear specimen; all had outcomes AFPs. Forty-seven forty-seven NTDs positive included 26 cases anencephaly, 16OSBs, 5 encephaloceles. In addition, about half omphalocele, demise, cystic hygroma, hydrops gave results. One case congenital nephrosis was negative. conclude that gel electrophoresis is useful adjunctive when levels measure +3 SD above mean. Although no negative occurred series identified elevated or increased risk NTDs, number unselected pregnancies not known.

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