双胎妊娠中尼曼-匹克病的产前诊断
Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.
作者信息
Donnai P, Donnai D, Harris R, Stephens R, Young E, Campbell S
出版信息
J Med Genet. 1981 Oct;18(5):359-61. doi: 10.1136/jmg.18.5.359.
Abstract
An Ashkenazi Jewish woman had a child with Niemann-Pick disease in her first marriage. She subsequently remarried a man who was also heterozygous for the condition and conceived twins. Prenatal diagnostic tests were performed and one twin was shown to be homozygous and the other heterozygous for Niemann-Pick disease. The problems of prenatal diagnosis and counselling in twin pregnancies are discussed.
摘要
一名阿什肯纳兹犹太女性在她的第一次婚姻中生下了一个患有尼曼-匹克病的孩子。她随后再婚，丈夫也是该疾病的杂合子，并怀上了双胞胎。进行了产前诊断测试，结果显示其中一个双胞胎是尼曼-匹克病的纯合子，另一个是杂合子。文中讨论了双胎妊娠产前诊断和咨询的问题。
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本文引用的文献
1
In utero diagnosis of Niemann-Pick disease.尼曼-匹克病的宫内诊断
Am J Hum Genet. 1971 Sep;23(5):533-5.
2
Counseling problems when twins are discovered at genetic amniocentesis.
Clin Genet. 1979 Jul;16(1):34-42. doi: 10.1111/j.1399-0004.1979.tb00846.x.
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Cardiac puncture of fetus with Hurler's disease avoiding abortion of unaffected co-twin.对患有Hurler病的胎儿进行心脏穿刺，避免未受影响的双胎之一流产。
Lancet. 1978 Nov 4;2(8097):990-1. doi: 10.1016/s0140-6736(78)92550-3.
4
Prenatal diagnosis of Niemann-Pick disease type A using chromogenic substrate.使用显色底物对A型尼曼-匹克病进行产前诊断。
Lancet. 1977 Jul 16;2(8029):144. doi: 10.1016/s0140-6736(77)90159-3.
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