Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy. Issue 5 (October 1981)

• Record Type: Journal Article
• Authors: Donnai, P; Donnai, D; Harris, R; Stephens, R; Young, E; Campbell, S
• Is Part Of: Journal of medical genetics. Volume 18:Issue 5(1981)
• Page Start: 359
• Page End: 361
• Publication Date: 1981-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.18.5.359
• Languages: English
• ISSNs: 1468-6244

Abstract

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.