{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T08:39:23Z","timestamp":1769071163411,"version":"3.49.0"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T00:00:00Z","timestamp":1259625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate whether high\u2010resolution comparative genomic hybridization (HR\u2010CGH) and subtelomeric and syndrome\u2010specific multiplex ligation\u2010dependent probe amplification (MLPA) would detect minor chromosomal aberrations in fetuses with increased nuchal translucency thickness (NT) and normal karyotype on conventional karyotyping.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Chorionic villus samples from 100 fetuses with NT \u2265 99<jats:sup><jats:italic>th<\/jats:italic><\/jats:sup> percentile and normal G\u2010banding analysis and MLPA for detection of aneuploidies for chromosomes 13, 18, 21, X and Y were included. Examinations were supplemented by HR\u2010CGH and MLPA for syndromes and subtelomeric regions. Pregnancy outcome was followed up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 80 liveborn children who were followed up, three (4%) had syndromes involving mental retardation, including a case of Sotos syndrome caused by a de novo mutation. 15% of fetuses were lost during pregnancy due to abnormalities and termination. The rate of adverse outcome overall was 18%. HR\u2010CGH and MLPA did not detect any chromosomal aberrations associated with the syndromes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The rate of adverse outcome was similar to levels recorded in the literature. Using CGH and MLPA did not increase the detection rate of genetic disease, which supports the current approach of repeated ultrasound examinations in these high\u2010risk pregnancies. Copyright \u00a9 2009 ISUOG. Published by John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.7468","type":"journal-article","created":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T18:16:25Z","timestamp":1259691385000},"page":"618-622","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Increased nuchal translucency with normal karyotype: a follow\u2010up study of 100 cases supplemented with CGH and MLPA analyses"],"prefix":"10.1002","volume":"34","author":[{"given":"K. 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