Antenatal detection of hereditary disorders

Amniotic fluid cells obtained by transabdominal amniocentesis at various stages of pregnancy were successfully cultivated. The intra-uterine detection of Down's syndrome, galactosemia, and mucopolysaccharidosis was established utilizing the cultivated amniotic fluid cells. The use of this proce...

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Bibliographic Details
Published in:Pediatrics (Evanston) 1968-12, Vol.42 (6), p.912-918
Main Author: Nadler, H L
Format: Article
Language:English
Subjects:
Adult
Amniotic Fluid - cytology
Carbohydrate Metabolism, Inborn Errors - diagnosis
Counseling
Down Syndrome - diagnosis
Erythroblastosis, Fetal - diagnosis
Female
Fetal Diseases - diagnosis
Galactosemias - diagnosis
Genetic Diseases, Inborn - diagnosis
Glycosaminoglycans - metabolism
Humans
Infant, Newborn
Karyotyping
Pregnancy
Pregnancy Complications - diagnosis
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Summary:Amniotic fluid cells obtained by transabdominal amniocentesis at various stages of pregnancy were successfully cultivated. The intra-uterine detection of Down's syndrome, galactosemia, and mucopolysaccharidosis was established utilizing the cultivated amniotic fluid cells. The use of this procedure increases the precision of genetic counseling and should stimulate the development of new approaches for the intra-uterine management of genetic defects. However, until considerably more experience is gained with these techniques, these procedures should be considered experimental in nature.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.42.6.912