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Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.
  1. P Donnai,
  2. D Donnai,
  3. R Harris,
  4. R Stephens,
  5. E Young,
  6. S Campbell

    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.

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