{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T22:54:13Z","timestamp":1769208853062,"version":"3.49.0"},"reference-count":41,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T00:00:00Z","timestamp":1728000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The purpose of this study was to assess the additional contribution of karyotyping compared with genome\u2010wide non\u2010invasive prenatal testing (NIPT) for pregnancies at intermediate risk for trisomy 21 (T21), calculated using the maternal serum screening without major structural anomalies detected through sonography. Karyotype results of all pregnancies undergoing invasive prenatal diagnostic testing between January 2013 and March 2022 were obtained from a large hospital\u2010based laboratory. Pregnancies with no major structural anomalies on ultrasound (including soft markers) and an intermediate risk for T21 on maternal serum screening were included in this study. The additional contribution of karyotyping for abnormal karyotype results was calculated after excluding results that could theoretically be identified with genome\u2010wide NIPT. Among the 511 pregnancies analyzed, 13 (2.54%) were found to have abnormal karyotype results, 9 (1.76%) of which could theoretically have been detected with genome\u2010wide NIPT. Within the cohort, 6\/263 (2.28%) of women aged 35\u2009years and older, and 3\/248 (1.20%) of women younger than 35\u2009years had results that could have been detected with genome\u2010wide NIPT. After excluding results detectable using genome\u2010wide NIPT, the additional contribution of karyotyping was found as 4\/502 (0.79%) for the entire cohort, 2\/257 (0.77%) for women aged 35\u2009years and older, 2\/245 (0.81%) for women younger than 35\u2009years. Of the 511 examined pregnancies at intermediate risk for T21 by maternal serum screening, genome\u2010wide NIPT would have failed to detect 4 of 13 abnormal karyotype results. The findings hold importance in guiding couples' informed decision\u2010making processes regarding their choice of genetic screening and diagnostic testing in case of intermediate risk for T21.<\/jats:p>","DOI":"10.1002\/jgc4.1973","type":"journal-article","created":{"date-parts":[[2024,10,5]],"date-time":"2024-10-05T06:23:09Z","timestamp":1728109389000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Is intermediate risk really intermediate? Comparison of karyotype and non\u2010invasive prenatal testing results of pregnancies at intermediate risk of trisomy 21 on maternal serum screening"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6773-4573","authenticated-orcid":false,"given":"Gul","family":"Alkan Bulbul","sequence":"first","affiliation":[{"name":"Division of Perinatology, Department of Gynecology and Obstetrics Akdeniz University Faculty of Medicine  Antalya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6017-8228","authenticated-orcid":false,"given":"Emine","family":"Kirtis","sequence":"additional","affiliation":[{"name":"Division of Perinatology, Department of Gynecology and Obstetrics Akdeniz University Faculty of Medicine  Antalya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8218-1893","authenticated-orcid":false,"given":"Hulya","family":"Kandemir","sequence":"additional","affiliation":[{"name":"Division of Perinatology, Department of Gynecology and Obstetrics Akdeniz University Faculty of Medicine  Antalya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0007-5769","authenticated-orcid":false,"given":"Cem Yasar","family":"Sanhal","sequence":"additional","affiliation":[{"name":"Division of Perinatology, Department of Gynecology and Obstetrics Akdeniz University Faculty of Medicine  Antalya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9540-5099","authenticated-orcid":false,"given":"Sezin","family":"Yakut Uzuner","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics Akdeniz University Faculty of Medicine  Antalya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6415-3215","authenticated-orcid":false,"given":"Sibel Berker","family":"Karauzum","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics Akdeniz University Faculty of Medicine  Antalya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5611-5518","authenticated-orcid":false,"given":"Ibrahim Inanc","family":"Mendilcioglu","sequence":"additional","affiliation":[{"name":"Division of Perinatology, Department of Gynecology and Obstetrics Akdeniz University Faculty of Medicine  Antalya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,4]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4101"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15986"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460517"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5223"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23207"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2021.1907333"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.i3426"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100874"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17484"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14791"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15783"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.3"},{"key":"e_1_2_12_14_1","unstructured":"Guide A. 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