Prenatal Diagnosis of Tay-Sachs Disease

Ellis, Rebecca; Ikonne, J. U.; Patrick, A. D.; Stephens, Rosemary; Willcox, Paul A.

doi:10.1016/s0140-6736(73)90953-7

Cited by 10 publications

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“…Though theoretically over 40 metabolic disorders are now detectable in cultured amniotic fluid cells, only limited experience with each of these diseases has been gained. A few small series have been accumulated: for GM2 gangliosidosis type 1 (Tay-Sachs' disease) (O'Brien et al, 1970;Navon and Padeh, 1971;Ellis et al, 1973), glycogenosis type II (Pompe's disease), and the mucopolysaccharidoses (Milunsky, 1973;Niermeijer et al, 1974). Conventional biochemical analysis requires relatively large cell numbers, which sometimes resulted in long waiting periods for the parents (4 to 8 weeks).…”

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confidence: 99%

Prenatal diagnosis of genetic disorders.

Niermeijer¹,

Sachs²,

Jahodova³

et al. 1976

Journal of Medical Genetics

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Summary. Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or The safety and reliability of amniocentesis and the possible effects on the outcome of pregnancy are evaluated. Prenatal diagnosis offers a promising alternative for parents who are at risk of having a child with a genetic disease which can be detected in amniotic fluid or in cultured amniotic fluid cells.Since the first reports of fetal karyotyping (Steele and Breg, 1966;Jacobson and Barter, 1967) and biochemical assays (Nadler, 1968(Nadler, , 1969 after amiocentesis in early pregnancy, increasing numbers of centres have gained experience on prenatal diagnosis of genetic diseases. Recent reviews (Milunsky, 1973;Hsu and Hirschhorn, 1974) show how the application of prenatal diagnosis in genetic counselling has already enabled many parents at risk for genetic disease to have non-affected children.

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confidence: 99%