Prenatal diagnosis of genetic disorders.

Abstract

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.

Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome

“…Colobomas and microphthalmia have not been seen in patients with familial 11;22 translocations who have inherited normal chromosomes 11 and 22 and the der(22) from the translocation carrier parent. Although colobomas and microphthalmia have also not been seen in other familial trisomies for 22pter-qll, they have been seen in familial trisomies for 22pter-q12 [Niermeijer et al, 1976;Al Saadi et al, 1977;Bendel et al, 19821, supporting a more distal localization of the genes responsible for these eye anomalies. It is not clear why S.K., whose duplication appears to extend into 22q12, has no eye abnormalities whereas the patient described by Reiss et al [19851, whose duplication extended only to 22q11.2, had bilateral colobomas.…”

Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.

“…This figure was lower in those who needed only a single tap. Galjaard (1976) (also in Niermeijer et al, 1976) quotes lower failure rates based on an inquiry covering 46 centres in 8 countries in Western Europe and a much lower proportion of repeat taps (4 3 % against our 12%). We too find that dry taps or bloodstained fluid are the commonest causes of failure, followed, in order of importance, by failure to establish satisfactory cell cultures.…”

Influence of Anchoring on Miscarriage Risk Perception Associated with Amniocentesis

“…Of these three cases, one of the procedures was performed transvaginally due to placental location, one fetus was at risk for Pompe disease (showed deficiency of α-1,4-glucosidase activity), and one fetus was conceived by a mother with a balanced translocation (the fetal cells failed to grow and were not available for analysis). Based on these considerations and other analyses in the study, the authors concluded that the miscarriage risk associated with amniocentesis was ± 1% (Niermeijer, Sachs, Jahodova, Tichelaar-Klepper, Kleijer, & Galjaard, 1976).…”