{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:10:16Z","timestamp":1759687816365,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,6]]},"abstract":"<jats:p>Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results of the affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1:47,XX,+21); (2) advanced maternal age: 54 cases (1:47,XXY; 1:45,X\/46,XY mosaicism; 1:47,+18); (3) previous child with multiple anomalies: 12 cases; (4) previous child with 47,XY,+18 or 47,+13: five cases; (5) translocation carrier: two cases; (6) parental mosaicism: three cases; (7) X-linked disorders: six cases (3:XY); (8) others: 24 cases. We have found firstly, that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotic fluid cells is used. Secondly, that diagnosis of chromosomal mosaicism can be problematic as exemplified by our case of 45,X\/46,XY mosaicism, where only 45,X cells were recovered from the first culture. Thirdly, that in cases with enlarged satellites, cells of late prophase or early metaphase must be used to eliminate confusion with translocations. We encountered three cases of enlarged satellites\u2014one in the D group and two in the G group\u2014and all three resulted in normal infants. Fourthly, that the karyotype may be altered by contamination and\/or treatment or other unknown factors. We have observed two such cases where each mother delivered a normal infant.<\/jats:p>","DOI":"10.1136\/jmg.10.2.112","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"112-119","source":"Crossref","is-referenced-by-count":20,"title":["Results and Pitfalls in Prenatal Cytogenetic Diagnosis"],"prefix":"10.1136","volume":"10","author":[{"given":"Lillian Y. F.","family":"Hsu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elyse C.","family":"Dubin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Kerenyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kurt","family":"Hirschhorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,6,1]]},"reference":[{"key":"ref_1","first-page":"247","article-title":"The triplo-X female: An appraisal based on a study of 12 cases and a review of the literature","volume":"101","author":"Barr, M.L.; Sergovich, F.R.; Carr, D.H.; Shaver, E.L.","year":"1969","unstructured":"Barr, M. L., Sergovich, F. R., Carr, D. H., and Shaver, E. L. (1969). The triplo-X female: An appraisal based on a study of 12 cases and a review of the literature. Canadian Medical Association Journal, 101, 247-258.","journal-title":"Canadian Medical Association Journal"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/230052a0","article-title":"Quinacrine fluorescence of the human Y chromosome","volume":"230","author":"Borgaonkar, D.S.; Hollander, D.H.","year":"1971","unstructured":"Borgaonkar, D. S. and Hollander, D. H. (1971). Quinacrine fluorescence of the human Y chromosome. Nature, 230, 52.","journal-title":"Nature"},{"key":"ref_3","first-page":"916","article-title":"The use of amniocententesis for prenatal genetic counseling","volume":"46","author":"Gertner, M.; Hsu, L.Y.F.; Martin, J.; Hirschhorn, K.","year":"1970","unstructured":"Gertner, M., Hsu, L. Y. F., Martin, J., and Hirschhorn, K. (1970). The use of amniocententesis for prenatal genetic counseling. Bulletin of the New York Academy of Medicine, 46, 916-921.","journal-title":"Bulletin of the New York Academy of Medicine"},{"key":"ref_4","article-title":"Identification of chromosomal aberrations in recurrent abortion and in congenital malformations. Presented at the Annual Meeting of the","author":"Hirschhorn, K.; Lucas, M.; Wallace, I.","year":"1972","unstructured":"Hirschhorn, K., Lucas, M., and Wallace, I. (1972). Identification of chromosomal aberrations in recurrent abortion and in congenital malformations. Presented at the Annual Meeting of the American Society of Human Genetics, Philadelphia, Pa. 12 October, Abstract 13a.","journal-title":"American Society of Human Genetics, Philadelphia; Abstract 13a"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1159\/000154941","article-title":"Influence of nuclear selection criteria on sex chromatin frequency in oral mucosa cells of newborn females","volume":"6","author":"Hsu, L.Y.F.; Klinger, H.P.; Weiss, J.","year":"1967","unstructured":"Hsu, L. Y. F., Klinger, H. P., and Weiss, J. (1967). Influence of nuclear selection criteria on sex chromatin frequency in oral mucosa cells of newborn females. Cytogenetics, 6, 371-382.","journal-title":"Cytogenetics"},{"key":"ref_6","first-page":"290","article-title":"Prenatal diagnosis of trisomy 18: pathological findings in a 20 week conceptus","volume-title":"American J7ournal of Diseases of Children","volume":"125","author":"Hsu, L.Y.F.; Strauss, L.; Dubin, E.C.; Hirschhom, K.","year":"1973","unstructured":"Hsu, L. Y. F., Strauss, L., Dubin, E. C., and Hirschhom, K. (1973). Prenatal diagnosis of trisomy 18: pathological findings in a 20 week conceptus. American J7ournal of Diseases of Children, 125, 290-292."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1111\/j.1399-0004.1972.tb01730.x","article-title":"Problems in parental diagnosis resulting from chromosomal mosaicism","volume":"3","author":"Kardon, N.B.; Chernay, P.R.; Hsu, L.Y.F.; Martin, J.L.; Hirschhorn, K.","year":"1972","unstructured":"Kardon, N. B., Chernay, P. R., Hsu, L. Y. F., Martin, J. L., and Hirschhorn, K. (1972). Problems in parental diagnosis resulting from chromosomal mosaicism. Clinical Genetics, 3, 83-89.","journal-title":"Clinical Genetics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1016\/S0140-6736(70)90262-X","article-title":"Tetraploidy in cells cultured from amniotic fluid","volume":"2","author":"Kohn, G.; Robinson, A.","year":"1970","unstructured":"Kohn, G. and Robinson, A. (1970). Tetraploidy in cells cultured from amniotic fluid. Lancet, 2, 778-779.","journal-title":"Lancet"},{"key":"ref_9","first-page":"21","article-title":"Sur deux observations familiales de translocations complexes","volume":"8","author":"Lejeune, J.; Berger, R.","year":"1965","unstructured":"Lejeune, J. and Berger, R. (1965). Sur deux observations familiales de translocations complexes. Annales de Gezlntique, 8, 21-30.","journal-title":"Annales de Gezlntique"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1038\/225280a0","article-title":"Prenatal chromosome analysis","volume":"225","author":"Lisgar, F.; Gertner, M.; Cherry, S.; Hsu, L.Y.F.; Hirschhorn, K.","year":"1970","unstructured":"Lisgar, F., Gertner, M., Cherry, S., Hsu, L. Y. F., and Hirschhorn, K. (1970). Prenatal chromosome analysis. Nature, 225, 280-281.","journal-title":"Nature"},{"key":"ref_11","first-page":"1370","article-title":"Prenatal genetic diagnosis. New England J7ournal of","volume":"283","author":"Milunsky, A.; Littlefield, J.W.; Kanfer, J.N.; Kolodny, E.H.; Shih, V.E.; Atkins, L.","year":"1970","unstructured":"Milunsky, A., Littlefield, J. W., Kanfer, J. N., Kolodny, E. H., Shih, V. E., and Atkins, L. (1970). Prenatal genetic diagnosis. New England J7ournal of Medicine, 283, 1370-1381, 1441-1447, 1498-1504.","journal-title":"Medicine"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/978-1-4757-4429-3_1","article-title":"Prenatal detection of genetic disorders","volume-title":"Advances in Human Genetics","volume":"3","author":"Nadler, H.L.","year":"1972","unstructured":"Nadler, H. L. (1972). Prenatal detection of genetic disorders. In Advances in Human Genetics, ed. by H. Harris and K. Hirschhorn, Vol. 3, pp. 1-37. Plenum Press, New York. The National Institute of Mental Health (1970). Report on the"},{"key":"ref_13","first-page":"53","article-title":"Intrauterine diagnosis. Presented at the Annual Meeting of the American Society of Human Genetics","volume":"\"Abstract\" # \"230,\"","author":"Robinson, A.; Bowes, W.; Droegemueller, W.; Puck, M.; Goodman, S.; Greensher, A.; Shikes, R.","year":"1972","unstructured":"Robinson, A., Bowes, W., Droegemueller, W., Puck, M., Goodman, S., Greensher, A., and Shikes, R. (1972). Intrauterine diagnosis. Presented at the Annual Meeting of the American Society of Human Genetics Philadelphia, Pa, 13 October, 1972, Abstract 29a. Rook, A., Hsu, L. Y. F., Gertner, M., and Hirschhorn, K. (1971). Identification of the Y and X chromosomes in amniotic fluid cells. Nature, 230, 53.","journal-title":"Nature; Identification of the Y and X chromosomes in amniotic fluid cells"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1111\/j.1601-5223.1972.tb01014.x","article-title":"Identification by fluorescence of apparently extra human F chromosomes as G chromosomes with giant satellites","volume":"71","author":"Wahlstrom, J.","year":"1972","unstructured":"Wahlstrom, J. (1972). Identification by fluorescence of apparently extra human F chromosomes as G chromosomes with giant satellites. Hereditas, Genetiskt Arkiv, 71, 154-157.","journal-title":"Hereditas, Genetiskt Arkiv"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.2.112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:45:18Z","timestamp":1759686318000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.2.112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,6]]},"references-count":14,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1973,6,1]]},"published-print":{"date-parts":[[1973,6]]}},"alternative-id":["10.1136\/jmg.10.2.112"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.2.112","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1973,6]]}}}