{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T21:52:53Z","timestamp":1759960373358},"reference-count":20,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2010,12,31]],"date-time":"2010-12-31T00:00:00Z","timestamp":1293753600000},"content-version":"vor","delay-in-days":851,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Obstet Gynecol Scand"],"published-print":{"date-parts":[[2008,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Objective<\/jats:italic>. Use of Denaturing High\u2010Performance Liquid Chromatography (DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA). <jats:italic>Methods<\/jats:italic>. Thirty\u2010three members of 7 families participated in carrier test and disease detection of SMA. Prenatal genetic diagnosis was performed if both parents were carriers or any family members had SMA. DNA extracted from blood, chorionic villi and amniotic fluid was amplified and used for DHPLC. <jats:italic>Results<\/jats:italic>. Twenty SMA carriers, seven SMA affected cases, and six normal individuals were identified. SMA status was demonstrated by genotyping and total copy number determinations of <jats:italic>SMN1<\/jats:italic> and <jats:italic>SMN2<\/jats:italic>. Families 1\u20133 were classified as group one (SMA affecting previously born child). Group two, comprising families 4 and 5, had lost a child due to an unknown muscular disease. Group three (SMA\u2010affected parent) comprised families 6 and 7; carrier testing was done. DHPLC prenatal genetic diagnosis was made in seven pregnancies, one in each family (affected, <jats:italic>n<\/jats:italic> = 2; carrier, <jats:italic>n<\/jats:italic> = 3; normal, <jats:italic>n<\/jats:italic> = 2). Pregnancy was terminated for the two affected fetuses. The others were delivered uneventfully and SMA free. <jats:italic>Conclusion<\/jats:italic>. DHPLC prenatal diagnosis of SMA and determination of SMA status in adults is possible, and <jats:italic>SMN1<\/jats:italic> and <jats:italic>SMN2<\/jats:italic> copy numbers can be determined.<\/jats:p>","DOI":"10.1080\/00016340802307779","type":"journal-article","created":{"date-parts":[[2008,8,11]],"date-time":"2008-08-11T21:00:48Z","timestamp":1218488448000},"page":"960-968","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high\u2010performance liquid chromatography 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