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Niemann-Pick病(NPD)是一种常染色体隐性遗传病.以各种组织中鞘磷脂沉积为特征.1983年由Brady提出分A、B两型.已证实该病系由于酸性鞘磷脂酶缺乏所致.Epstein等首先于1971年报告由培养羊水细胞的酶学分析对该病作出产前诊断.作者等近来已成功地应用绒毛膜绒毛酶学分析,对B型NPD于妊娠头三月时作出产前诊
Niemann-Pick disease (NPD) is an autosomal recessive disease characterized by deposits of sphingomyelin in various tissues and was proposed by Brady in 1983 as subdivision A, B. It has been demonstrated that this disease is due to acid sphingomyelinase Lack of E. Epstein et al first reported in 1971 on the prenatal diagnosis of the disease by enzymatic analysis of cultured amniotic fluid cells.The authors have recently successfully applied chorionic villus enzymatic analysis of type B NPD in the first trimester of pregnancy Make prenatal diagnosis