{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:34:13Z","timestamp":1740126853383,"version":"3.37.3"},"reference-count":29,"publisher":"Georg Thieme Verlag KG","issue":"S 01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Perinatol"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:p>\n            Objective\u2003Noninvasive prenatal screening (NIPS) may incidentally identify maternal aneuploidies that have health implications. We evaluated patients' experience with counseling and follow-up diagnostic testing after NIPS flags a potential maternal sex chromosome aneuploidy (SCA).<\/jats:p><jats:p>\n            Study Design\u2003Patients who underwent NIPS at two reference laboratories between 2012 and 2021 and had test results that were consistent with possible or probable maternal SCA were contacted with a link to an anonymous survey. Survey topics included demographics, health history, pregnancy history, counseling, and follow-up testing.<\/jats:p><jats:p>\n            Results\u2003A total of 269 patients responded to the anonymous survey, and 83 of these individuals also completed one follow-up survey. Most received pretest counseling. A total of 80% were offered fetal genetic testing during the pregnancy, and 35% of patients completed diagnostic maternal testing. Monosomy X-related phenotypes such as short stature or hearing loss prompted follow-up testing that led to a diagnosis of monosomy X in 14 (6%) cases.<\/jats:p><jats:p>\n            Conclusion\u2003Follow-up counseling and testing after a high-risk NIPS result suggestive of maternal SCA is heterogenous in this cohort and may be frequently incomplete. Health outcomes may be affected by these results and additional research could improve the provision, delivery, and quality of posttest counseling.<\/jats:p><jats:p>\n            Key Points\n          <\/jats:p>","DOI":"10.1055\/a-2126-7476","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T22:40:37Z","timestamp":1689115237000},"page":"e2574-e2581","source":"Crossref","is-referenced-by-count":0,"special_numbering":"S","title":["Maternal Sex Chromosome Aneuploidy Identified through Noninvasive Prenatal Screening: Clinical Profile and Patient Experience"],"prefix":"10.1055","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6239-8427","authenticated-orcid":false,"given":"Aaron W.","family":"Roberts","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The University of Texas Health Science Center at Houston, Houston, Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa K.","family":"Maisenbacher","sequence":"additional","affiliation":[{"name":"Natera, Inc., San Carlos, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheetal","family":"Parmar","sequence":"additional","affiliation":[{"name":"Natera, Inc., San Carlos, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Wilkinson","sequence":"additional","affiliation":[{"name":"Invitae, Inc., San Francisco, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Poll","sequence":"additional","affiliation":[{"name":"Invitae, Inc., San Francisco, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Faulkner","sequence":"additional","affiliation":[{"name":"Invitae, Inc., San Francisco, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siddharth K.","family":"Prakash","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,8,9]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1097\/AOG.0000000000004084","article-title":"ACOG practice bulletin no 226: screening for fetal chromosomal abnormalities","volume":"136","year":"2020","journal-title":"Obstet Gynecol"},{"issue":"10","key":"ref2","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1038\/gim.2016.97","article-title":"Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics","volume":"18","author":"A R Gregg","year":"2016","journal-title":"Genet Med"},{"issue":"06","key":"ref3","first-page":"578","article-title":"DNA sequencing versus standard prenatal aneuploidy screening","volume":"371","author":"D W 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