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PITFALLS IN THE PRENATAL DIAGNOSIS OF TAY‐SACHS DISEASE

 

作者: C. A. MICHAEL,   R. HAHNEL,   A. HOCKEY,   S. WYSOCKI,  

 

期刊: Journal of Paediatrics and Child Health  （WILEY Available online 1974）
卷期: Volume 10, issue 1  

页码: 23-24

 

ISSN:1034-4810

 

年代: 1974

 

DOI:10.1111/j.1440-1754.1974.tb01087.x

 

出版商: Blackwell Publishing Ltd

 

数据来源: WILEY

 

摘要:

SYNOPSISA case report of an error in the prenatal diagnosis of Tay‐Sach's disease is presented. It is emphasised that errors can occur in the biochemical investigation of hexosaminidase A in cultural amniotic fluid cells and results may be falsely regarded as excluding the diagnosis. It is suggested that more reliance should be placed on the examination of fresh amniotic fluid when prenatal diagnosis is undertake

 

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