{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T23:54:15Z","timestamp":1790898855753,"version":"4.1.0"},"reference-count":19,"publisher":"Georg Thieme Verlag KG","issue":"14","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Perinatol"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Noninvasive prenatal screening (NIPS) screens for aneuploidy, but its positive predictive value for sex chromosome aneuploidies (SCA) is variable. NIPS reports include \u201catypical sex chromosome findings,\u201d which may indicate fetal\/maternal SCAs or mosaicism, although sensitivity is unknown. Previous studies are limited by small cohorts and insufficient maternal testing and ultrasound data. This study evaluates confirmation rates and outcomes for screen-positive SCAs, including \u201catypical sex chromosome\u201d on NIPS.<\/jats:p>\n                  <jats:p>This retrospective study included singleton pregnancies that underwent diagnostic testing for screen-positive SCAs or atypical sex chromosome findings on NIPS from 2019 to 2024. Data collected included demographics, ultrasound findings, cytogenetics, maternal karyotype, and perinatal outcomes. The primary outcome was diagnostic confirmation, defined as proportion of NIPS screen-positive SCA and \u201catypical sex chromosome\u201d confirmed by diagnostic testing. Secondary outcomes included fetal\/placental mosaicism, incidental genetic findings, and maternal genetic results. Chi-squared and Kruskal\u2013Wallis tests were used for categorical and continuous variables, respectively.<\/jats:p>\n                  <jats:p>Of 510 patients who underwent diagnostic testing, 91 met inclusion criteria. Overall, 41.8% (n\u2009=\u200938) of NIPS-predicted SCAs were confirmed. Confirmation rates varied by SCA type: monosomy X (32.1%), XXY (80%), XYY (100%), XXX (66.7%), and atypical findings (26.2%) (p\u2009&lt;\u20090.001). Mosaicism was present in 31.6% of confirmed cases. Incidental genetic findings, including fetal copy number variants, occurred in 11 cases. Maternal karyotype was normal in 100% of confirmed cases versus 54.2% of nonconfirmed (p\u2009=\u20090.033). Perinatal outcomes were generally favorable.<\/jats:p>\n                  <jats:p>Fewer than half of NIPS-predicted SCAs were confirmed, with low confirmation rates for monosomy X and atypical findings. Mosaicism accounted for nearly one-third of confirmed cases. False-positive results often included incidental fetal and maternal findings, which may contribute to high false-positive rates. These findings emphasize the need for comprehensive pretest counseling and standardized testing guidelines, given the risk of unexpected maternal SCAs and fetal copy number variants.<\/jats:p>","DOI":"10.1055\/a-2849-7834","type":"journal-article","created":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T23:05:50Z","timestamp":1790895950000},"page":"1954-1960","source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic and Clinical Outcomes of Sex Chromosome Abnormalities Detected on Noninvasive Prenatal Screening"],"prefix":"10.1055","volume":"43","author":[{"given":"Ifeoma","family":"Ogamba-Alphonso","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine, NYU Langone Hospital Long Island, NYU Grossman Long Island School of Medicine, Mineola, New York, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Rozenblyum","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, NYU Langone Hospital Long Island, NYU Grossman Long Island School of Medicine, Mineola, New York, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Dunn","sequence":"additional","affiliation":[{"name":"CytoGenX Medical Genetic Laboratories, Stony Brook, New York, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiwei","family":"Yang","sequence":"additional","affiliation":[{"name":"Division of Health Services Research, Department of Foundations of Medicine, NYU Grossman Long Island School of Medicine, Mineola, New York, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Cacace","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine, NYU Langone Hospital Long Island, NYU Grossman Long Island School of Medicine, Mineola, New York, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anju","family":"Suhag","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine, NYU Langone Hospital Long Island, NYU Grossman Long Island School of Medicine, Mineola, New York, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,4,20]]},"reference":[{"issue":"10","key":"ref1","first-page":"735","article-title":"Non-invasive prenatal testing","volume":"46","author":"J Harraway","year":"2017","journal-title":"Aust Fam Physician"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/uog.17484","article-title":"Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis","volume":"50","author":"M M Gil","year":"2017","journal-title":"Ultrasound Obstet Gynecol"},{"key":"ref3","volume-title":"Non-invasive prenatal testing (NIPT) for fetal sex determination. Health Technology Assessment","author":"S S Ormstad","year":"2016"},{"issue":"01","key":"ref4","doi-asserted-by":"crossref","first-page":"S284","DOI":"10.1016\/j.ajog.2023.11.548","article-title":"Fetal and neonatal outcomes after \u201catypical finding for sex chromosomes\u201d on cell-free fetal DNA screening","volume":"230","author":"J Y Mei","year":"2024","journal-title":"Am J Obstet Gynecol"},{"issue":"07","key":"ref5","doi-asserted-by":"crossref","first-page":"e1963","DOI":"10.1002\/mgg3.1963","article-title":"Systematic analysis of the causes of NIPS sex chromosome aneuploidy false-positive results","volume":"10","author":"Z Lyu","year":"2022","journal-title":"Mol Genet Genomic Med"},{"issue":"S 02","key":"ref6","doi-asserted-by":"crossref","first-page":"103185","DOI":"10.1016\/j.gimo.2025.103185","article-title":"Atypical sex chromosome findings on prenatal cell-free DNA screenings","volume":"3","author":"C Hess","year":"2025","journal-title":"Genet Med 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Genet"},{"issue":"07","key":"ref10","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1002\/pd.4159","article-title":"SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy","volume":"33","author":"C Samango-Sprouse","year":"2013","journal-title":"Prenat Diagn"},{"issue":"04","key":"ref11","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.ajog.2023.11.1240","article-title":"Placental, maternal, fetal, and technical origins of false-positive cell-free DNA screening results","volume":"230","author":"Y Raymond","year":"2024","journal-title":"Am J Obstet Gynecol"},{"issue":"11","key":"ref12","doi-asserted-by":"crossref","first-page":"2666","DOI":"10.1002\/ajmg.a.61801","article-title":"Deletion rescue resulting in segmental homozygosity: a mechanism underlying discordant NIPT results","volume":"182","author":"S Caldwell","year":"2020","journal-title":"Am J Med Genet 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Guzewicz","year":"2021","journal-title":"Am J Med Genet A"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/B978-0-444-63233-3.00024-5","article-title":"Sex chromosome aneuploidies","volume":"147","author":"D Skuse","year":"2018","journal-title":"Handb Clin Neurol"},{"issue":"02","key":"ref17","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1002\/pd.6256","article-title":"Prenatal diagnosis of sex chromosome aneuploidy-what do we tell the prospective parents?","volume":"43","author":"R Reimers","year":"2023","journal-title":"Prenat Diagn"},{"issue":"04","key":"ref18","doi-asserted-by":"crossref","first-page":"e48","DOI":"10.1097\/AOG.0000000000004084","article-title":"Screening for fetal chromosomal abnormalities: ACOG Practice Bulletin No. 226","volume":"136","author":"American College of Obstetricians and Gynecologists' Committee on Practice Bulletins\u2014Obstetrics","year":"2020","journal-title":"Obstet Gynecol"},{"issue":"07","key":"ref19","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/pd.6357","article-title":"Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies","volume":"43","author":"L Hui","year":"2023","journal-title":"Prenat Diagn"}],"container-title":["American Journal of 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