ACOG practice bulletin. Neural tube defects. Number 44, July 2003. (Replaces committee opinion number 252, March 2001)

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DOI: 10.1016/S0020-7292(03)00390-4

关键词: MedicinePrenatal diagnosisAnencephalyNeural tubePrenatal screeningPregnancyFetusMass screeningSpina bifidaPediatrics

摘要: Neural tube defects (NTDs) are congenital structural abnormalities of the brain and vertebral column that occur either as an isolated malformation, along with other malformations, or part a genetic syndrome. Isolated (ie, nonsyndromic) NTDs in 1.4-2 per 1,000 pregnancies second most common major anomaly worldwide (cardiac malformations first). In United States, approximately 4,000 fetuses affected each year which one third aborted spontaneously lost. Anencephaly accounts for half all cases is incompatible life; treatment, 80-90% infants spina bifida survive varying degrees disability. Most importantly, among few birth primary prevention possible; prenatal screening diagnosis widely available, therapy being investigated.

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