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梅克尔综合征与神经管缺陷的产前诊断

Meckel syndrome and the prenatal diagnosis of neural tube defects.

作者信息

Seller M J

出版信息

J Med Genet. 1978 Dec;15(6):462-5. doi: 10.1136/jmg.15.6.462.

Abstract

Two fetuses, terminated after prenatal diagnosis of aneural tube defect, had Meckel syndrome. There have now been three fetuses with this syndrome in a series of 35 terminated because of open lesions of the neural tube. It is suggested that such therapeutically aborted fetuses represent a highly selected group, among which a rare condition like Meckel syndrome will be concentrated. The need for a detailed examination of all terminated fetuses is emphasised, for the identification of such an autosomal recessive condition alters the genetic counselling for a future pregnancy.

摘要

两名在产前诊断出神经管缺陷后终止妊娠的胎儿患有梅克尔综合征。在一系列因神经管开放性病变而终止妊娠的35例胎儿中,现已发现3例患有该综合征。有人认为,这类经治疗性流产的胎儿代表了一个经过高度筛选的群体,像梅克尔综合征这样的罕见病症会集中出现在这个群体中。强调了对所有终止妊娠胎儿进行详细检查的必要性,因为识别出这种常染色体隐性病症会改变对未来妊娠的遗传咨询。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d08a/1013763/24960a4b25c1/jmedgene00301-0055-a.jpg

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