Advances in Human Genetics 1 by James D. Goldberg, Mitchell S. Golbus (auth.), Harry Harris,

By James D. Goldberg, Mitchell S. Golbus (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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Sachs, E. , Niermeijer, M. , 1984a, First trimester diagnosis of Krabbe's disease by direct enzyme analysis of chorionic villi, N. Engl. J. Med. 311:1257. Kleijer, W. , Van Diggelen, O. , Janse, H. , and Boue. , 1984b, First trimester diagnosis of Hunter syndrome on chorionic villi, Lancet 2:472. Kleijer, W. , 1984c, First trimester (chorion biopsy) diagnosis of citrullinaetnia and methylmalonicaciduria, Lancet 2:1340. Kleijer, W. , Janse, H. , Vosters, R. , Niermeijer, M. , and van de Kamp, J.

Which provides adequate material for five or six restriction enzyme digestions. DNA Disorders Diagnosed The disorders that have been attempted or diagnosed by CVS in the first trimester are listed in Table IX. As mentioned above, this list is rapidly expanding. Pitfalls in DNA Diagnosis of Chorionic Villi Prenatal diagnoses using chorionic villi and recombinant DNA technology have the same pitfalls as any type of prenatal molecular analysis. These include: (1) maternal contamination of the DNA, (2) probe contamination, (3) technical difficulties, such as incomplete restriction digestion, (4) meiotic crossover when linkage analysis is being used, and (5) nonpaternity.

218-234, Springer-Verlag, Berlin. , 1983, Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy, N. Engl. 1. Med. 309:831-833. Gosden, J. , Mitchell, A. , Gosden, C. , Rodeck, C. , and Morsman, J. , 1982, Direct vision chorion biopsy and chromosome-specifIc DNA probes for determination of fetal sex in first-trimester prenatal diagnosis, Lancet 2:14161419. Gosden, J. , Gosden, C. , Morsman, J. , and Rodeck, C. , 1984, Rapid fetal sex determination in first trimester prenatal diagnosis by dot hybridisation of DNA probes, Lancet 1:540-541.

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