Prenatal Tay-Sachs Diagnosis by Chorionic Villi Sampling

Pergament, Eugene; Ginsberg, Norman; Verlinsky, Yury; Cadkin, A V; Chu, Laura; Trnka, Luci; Grebner, EugeneE; Wapner, RonaldJ; Barr, Marie; Jackson, Laird

doi:10.1016/s0140-6736(83)90270-2

Cited by 34 publications

(5 citation statements)

References 8 publications

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“…Several centres in Europe and the United States have been assessing chorionic villus biopsy as a source of fetal cells for prenatal diagnosis (Kazy et al, 1982;Rodeck et al, 1983;Pergament et al, 1983;Simoni et al, 1983). This technique is performed during the first trimester of pregnancy, generally between 8 and 10 weeks.…”

Section: Introductionmentioning

confidence: 99%

Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

et al. 1986

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We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotin-dependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. The other enzymes, 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved in the degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in which there is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.

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Section: Introductionmentioning

confidence: 99%

Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

et al. 1986

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“…The psychological burden for the parents is of course much less than in the case of amniotic fluid cell analysis and termination at the 16th-20th week. After the demonstration that various enzymes which may be involved in inborn errors of metabolism are also expressed in chorionic tissue 15,29,48, several first-trimester diagnoses of genetic metabolic diseases have recently been made ~2a, 1~' 30a~, 43,59. At the moment of writing practical experience with this new method has already been gained with 30 different metabolic diseases.…”

Section: Iil Prenatal Diagnosis and Preventionmentioning

confidence: 99%

Biochemical diagnosis of genetic disease

Galjaard

1986

Experientia

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“…Indeed, their respective genes are also closely linked to the HLA loci [32,33]. [37], including DNA analysis [38], or else prepared for short-term cultures. By this pro cedure, the delay for obtaining diagnostic re sults is considerably shortened, as compared to amniocentesis.…”

Section: Prenatal Diagnosis Through Analysis Of Fetal Bloodmentioning

confidence: 99%

Prenatal Diagnosis of Inborn Errors of Metabolism

Vámos¹,

Liebaers²

1984

Enzyme

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The evolution of the techniques aiming at the prenatal diagnosis of inborn metabolic disorders has closely reflected the progress in the knowledge of their underlying molecular defects. Initially, abnormal metabolites have been looked for in amniotic fluid. Recently, improved techniques of detection have permitted fast and reliable prenatal diagnoses through biochemical studies of cell-free amniotic fluid. Presently, the most widely used approach is the search for the defective gene product in cultured amniotic cells obtained through amniocentesis. Because of its relative safety, this procedure should be recommended, provided three prerequisites are met: a most accurate diagnosis of the index patient, the knowledge of the defective enzyme and its expression in cultured cells. For a correct interpretation of the results, cell culture parameters as well as specific activities of the mutant enzyme in the index case and the parental cells must be taken into account. Fetal blood sampling is a valuable alternative for some of the genetic disorders that cannot be detected in cultured amniocytes. The recently developed technique of chorion biopsy enables now to sample fetal cells during the first trimester of gestation. Meanwhile, the progress in DNA technology has uncovered exciting perspectives for the prenatal diagnosis of monogenic disorders at the gene level. Restriction endonuclease mapping has enabled to diagnose prenatally some forms of haemoglobinopathies, first through the polymorphism of sequences adjacent to the ß-globin gene, and now for the sickle-cell disease, by direct identification of the mutation.

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Prenatal Tay-Sachs Diagnosis by Chorionic Villi Sampling

Cited by 34 publications

References 8 publications

Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

Biochemical diagnosis of genetic disease

Prenatal Diagnosis of Inborn Errors of Metabolism

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