Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis
作者： J.Edward Spence , GregoryJ. Buffone , CraigL. Rosenbloom , SusanD. Fernbach , MarthaR. Curry
DOI: 10.1007/BF00283042
关键词: Chorionic villus sampling 、 Cystic fibrosis 、 Fetus 、 Human genetics 、 Pancreatic disease 、 Prenatal diagnosis 、 Pathology 、 Genetic marker 、 Amniocentesis 、 Immunology 、 Biology 、 Genetics(clinical) 、 Genetics
摘要: Prenatal dignosis was performed for 47 pregnancies with 1 in 4 risk of cystic fibrosis, including 7 cases analyzed linked DNA markers, 16 by microvillar intestinal enzyme testing, and 24 where both methods testing were attempted. obtained chorionic villus sampling 10 amniocentesis 21 cases, diagnosis based on analysis the tightly markers D7S8 met. using these probes fully informative 74.4% 90 couples risk. In 18 results data diagnostic, there agreement regarding predicted status fetus. No adequate achieved two diagnostic tests Ourcome is known no errors detected. fibrosis highly accurate, but remains a valuable part complete program.
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