Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.
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Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.
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 dis...
متن کاملPrenatal diagnosis of Niemann-Pick disease
Niemann-Pick disease type C (NPC) was demonstrated in two successive pregnancies by strongly reduced activity of sphingomyelinase in amniotic fluid cells. By contrast, chorionic villi from the first pregnancy had shown normal sphingomyelinase activity. The prenatal diagnosis of NPC in the two fetuses was confirmed, after termination of the pregnancies, by (phospho)lipid analyses of the fetal li...
متن کاملNiemann-Pick disease.
doi:10.5152/tjh.2011.15 The peripheral blood smear is an easy, inexpensive, and very useful diagnostic method. Although some think that it has lost its importance following the development of new automated complete blood counts, the peripheral blood smear should remain a primary diagnostic tool for clinicians, especially pediatricians. Peripheral blood smears aid clinicians in choosing the appr...
متن کاملNiemann-Pick Disease
In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice [5], nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of...
متن کاملPrenatal diagnosis and fetal pathology of Niemann-Pick disease.
Prenatal diagnosis was successfully accomplished by determining sphingomyelinase activity in the cultured amniotic fluid cells in a case of high risk pregnancy for Niemann-Pick disease (NPD), type A. No detectable activity of sphingomyelinase was found in the cultured amniotic fluid cells obtained at the 17th week of gestation. Patient's pregnancy was terminated and the aborted fetus was proved...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1981
ISSN: 1468-6244
DOI: 10.1136/jmg.18.5.359