Chromosome Analysis Before Birth and Its Value in Genetic Counselling

Ferguson-Smith, M. E.; Ferguson‐Smith, M. A.; Nevin, N. C.; Stone, Malcolm

doi:10.1097/00006254-197204000-00015

Cited by 3 publications

(4 citation statements)

References 6 publications

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“…This period should not exceed 2 to 3 weeks so that if necessary abortion can be performed before the mother experiences fetal movements (Ferguson-Smith et al, 1971;Golbus et al, 1974). In the present study the result of prenatal chromosome analysis was available within 3 weeks in 87% of the cases (47%/ of the parents knew the result within 2 weeks).…”

Section: Discussionmentioning

confidence: 62%

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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Section: Discussionmentioning

confidence: 62%

Prenatal diagnosis of genetic disorders.

Niermeijer¹,

Sachs²,

Jahodova³

et al. 1976

Journal of Medical Genetics

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“…Confirmation by fetal chromosome analysis is awaited before recommending termination of a male fetus. Although several centres regard fetal sex chromatin analysis as unreliable, we feel justified in using it by our successful experience with the Millipore filter technique (Ferguson-Smith et al, 1971). This is undoubtedly a major improvement in the technology of fetal nuclear sexing, as it provides fixation of amniotic cell nuclei much superior to that obtained in airdried smears.…”

Section: Discussionmentioning

confidence: 99%

“…The remainder of the amniotic fluid sample is used to prepare amniotic cell cultures by a modification of an in-situ method, previously described (Ferguson-Smith et al, 1971). The sample is centrifuged for 20 minutes at 250 g, and the cell deposit (resuspended in 1 ml of amniotic fluid) is divided equally between four 30 mm plastic petri dishes.…”

Section: Methodsmentioning

confidence: 99%

Screening for fetal chromosome aberrations in early pregnancy

Ferguson‐Smith¹,

Ferguson-Smith²

1976

Journal of Clinical Pathology

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“…The antenatal diagnosis of fetal aneuploidies is well documented (Ferguson-Smith et al, 1971) and amniocentesis would normally be recommended when a previous sib has been shown to have a chromosomal anomaly, particularly a trisomy 21. Hamerton, Giannelli, and Polani (1965) and others have reported the recurrence of trisomy 21 in more than one member of a family and this is very likely to occur where mother or father are shown to have a D/G translocation.…”

Section: Discussionmentioning

confidence: 99%