{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:14:29Z","timestamp":1772118869261,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2017,12,29]],"date-time":"2017-12-29T00:00:00Z","timestamp":1514505600000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003443","name":"Ministry of Education and Science of the Russian Federation","doi-asserted-by":"publisher","award":["14.607.21.0136"],"award-info":[{"award-number":["14.607.21.0136"]}],"id":[{"id":"10.13039\/501100003443","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>The aim of this study was to establish maternal contribution to false positive noninvasive prenatal DNA screening (NIPS) results and develop the method to distinguish maternal and fetal origin of high\u2010risk monosomy X NIPS calls including mosaic maternal cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>A total of 906 women carrying singleton pregnancies have been recruited. Maternal plasma DNA semiconductor massive parallel sequencing was performed to detect common aneuploidies. For the case of high monosomy X risk call, analysis method to distinguish fetal and maternal monosomy X has been additionally applied.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>According to NIPS results, 18 patients had a high risk of fetal monosomy X. In 11 (61%) cases, fetal aneuploidy was confirmed by karyotyping. Other 7 cases were false positives. In 3 out of 7 cases, additional analysis based on in silico size selection was allowed to assume maternal monosomy X. In these cases, fluorescence in situ hybridization analysis confirmed mosaic monosomy X in maternal blood cells.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The prevalence of mosaic monosomy X karyotype is 0.3% (3\/906)\u201410\u00a0times higher than published before. Additional in silico size\u2010selection and data analysis increases PPV for monosomy X from 61% to 73% for studied population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.5178","type":"journal-article","created":{"date-parts":[[2017,11,7]],"date-time":"2017-11-07T04:36:43Z","timestamp":1510029403000},"page":"1305-1310","source":"Crossref","is-referenced-by-count":12,"title":["In silico size selection is effective in reducing false positive\n                    <scp>NIPS<\/scp>\n                    cases of monosomy\n                    <scp>X<\/scp>\n                    that are due to maternal mosaic monosomy\n                    <scp>X<\/scp>"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4383-7428","authenticated-orcid":false,"given":"Jekaterina","family":"Shubina","sequence":"first","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitry Yu","family":"Trofimov","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilya Yu","family":"Barkov","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga K.","family":"Stupko","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrey Yu","family":"Goltsov","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina S.","family":"Mukosey","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nana K.","family":"Tetruashvili","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyudmila V.","family":"Kim","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vladimir A.","family":"Bakharev","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia A.","family":"Karetnikova","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taisya O.","family":"Kochetkova","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina V.","family":"Krasheninnikova","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrey A.","family":"Bystritskiy","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gennady T.","family":"Sukhikh","sequence":"additional","affiliation":[{"name":"\u201cResearch Center for Obstetrics, Gynecology and Perinatology,\u201d Ministry of Healthcare of the Russian Federation Federal State Budget Institution  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,29]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MED.0000000000000128"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.08.006"},{"key":"e_1_2_1_4_1","first-page":"2","article-title":"Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases","author":"Wang J\u2010C","year":"2014","journal-title":"Genet 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