{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T04:07:51Z","timestamp":1778645271314,"version":"3.51.4"},"reference-count":85,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,2]],"date-time":"2023-12-02T00:00:00Z","timestamp":1701475200000},"content-version":"am","delay-in-days":366,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000001","name":"National Science Foundation","doi-asserted-by":"publisher","award":["2129088"],"award-info":[{"award-number":["2129088"]}],"id":[{"id":"10.13039\/100000001","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["Z1A HD008985"],"award-info":[{"award-number":["Z1A HD008985"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["K23 HD092588"],"award-info":[{"award-number":["K23 HD092588"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajog.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Obstetrics and Gynecology"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1016\/j.ajog.2022.07.004","type":"journal-article","created":{"date-parts":[[2022,7,13]],"date-time":"2022-07-13T01:59:13Z","timestamp":1657677553000},"page":"862-870","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome"],"prefix":"10.1016","volume":"227","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6767-0207","authenticated-orcid":false,"given":"Tazim","family":"Dowlut-McElroy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanlee","family":"Davis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Howell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iris","family":"Gutmark-Little","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaneeta","family":"Bamba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siddharth","family":"Prakash","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheetal","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris","family":"Fadoju","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nandini","family":"Vijayakanthi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Haag","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborrah","family":"Hennerich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Dugoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roopa Kanakatti","family":"Shankar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajog.2022.07.004_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000357198","article-title":"Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis","volume":"35","author":"Nicolaides","year":"2014","journal-title":"Fetal Diagn Ther"},{"key":"10.1016\/j.ajog.2022.07.004_bib2","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1097\/AOG.0b013e31828ba3d8","article-title":"Massively parallel sequencing of maternal plasma DNA in 113 cases of fetal nuchal cystic hygroma","volume":"121","author":"Bianchi","year":"2013","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.ajog.2022.07.004_bib3","doi-asserted-by":"crossref","first-page":"c7401","DOI":"10.1136\/bmj.c7401","article-title":"Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study","volume":"342","author":"Chiu","year":"2011","journal-title":"BMJ"},{"key":"10.1016\/j.ajog.2022.07.004_bib4","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1056\/NEJMra1705345","article-title":"Sequencing of circulating cell-free DNA during pregnancy","volume":"379","author":"Bianchi","year":"2018","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib5","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1007\/s10815-020-02056-2","article-title":"Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China","volume":"38","author":"Yang","year":"2021","journal-title":"J\u00a0Assist Reprod Genet"},{"key":"10.1016\/j.ajog.2022.07.004_bib6","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/j.ejogrb.2021.01.008","article-title":"Non invasive prenatal testing (NIPT) for common aneuploidies and beyond","volume":"258","author":"Alberry","year":"2021","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"10.1016\/j.ajog.2022.07.004_bib7","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1097\/AOG.0000000000004107","article-title":"Screening for fetal chromosomal abnormalities: ACOG practice bulletin summary, Number 226","volume":"136","year":"2020","journal-title":"Obstet Gynecol"},{"issue":"Suppl","key":"10.1016\/j.ajog.2022.07.004_bib8","doi-asserted-by":"crossref","first-page":"S64","DOI":"10.1016\/j.placenta.2013.11.014","article-title":"Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease","volume":"35","author":"Taglauer","year":"2014","journal-title":"Placenta"},{"key":"10.1016\/j.ajog.2022.07.004_bib9","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1373\/clinchem.2013.215145","article-title":"Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing","volume":"60","author":"Wang","year":"2014","journal-title":"Clin Chem"},{"key":"10.1016\/j.ajog.2022.07.004_bib10","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1002\/pd.4666","article-title":"Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective","volume":"35","author":"Sachs","year":"2015","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib11","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1002\/pd.5049","article-title":"Discordant non-invasive prenatal testing (NIPT) - a systematic review","volume":"37","author":"Hartwig","year":"2017","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib12","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0146794","article-title":"False negative NIPT results: risk figures for chromosomes 13, 18 and 21 based on chorionic villi results in 5967 cases and literature review","volume":"11","author":"Van Opstal","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.ajog.2022.07.004_bib13","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1159\/000512501","article-title":"Observed and modeled positive predictive values using cell-free DNA testing for fetal trisomy in a clinical laboratory population","volume":"48","author":"White","year":"2021","journal-title":"Fetal Diagn Ther"},{"key":"10.1016\/j.ajog.2022.07.004_bib14","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajog.2022.01.019","article-title":"Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation","author":"Dar","year":"2022","journal-title":"Am J Obstet Gynecol"},{"key":"10.1016\/j.ajog.2022.07.004_bib15","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1159\/000518002","article-title":"Efficiency of noninvasive prenatal testing for sex chromosome aneuploidies","volume":"86","author":"Shi","year":"2021","journal-title":"Gynecol Obstet Invest"},{"key":"10.1016\/j.ajog.2022.07.004_bib16","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13039-020-00521-2","article-title":"Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases","volume":"14","author":"Lu","year":"2021","journal-title":"Mol Cytogenet"},{"key":"10.1016\/j.ajog.2022.07.004_bib17","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.c.31675","article-title":"Turner syndrome: new insights from prenatal genomics and transcriptomics","author":"Bianchi","year":"2019","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.ajog.2022.07.004_bib18","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1038\/gim.2017.91","article-title":"Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"19","author":"Cherry","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib19","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1056\/NEJMc1412222","article-title":"Accurate description of DNA-based noninvasive prenatal screening","volume":"372","author":"Cheung","year":"2015","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib20","doi-asserted-by":"crossref","first-page":"7767","DOI":"10.1038\/s41598-019-44018-4","article-title":"Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital","volume":"9","author":"Deng","year":"2019","journal-title":"Sci Rep"},{"key":"10.1016\/j.ajog.2022.07.004_bib21","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s40246-019-0198-2","article-title":"Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions\/microduplications in a cohort of 8141 single pregnancies","volume":"13","author":"Hu","year":"2019","journal-title":"Hum Genomics"},{"key":"10.1016\/j.ajog.2022.07.004_bib22","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/pd.4024","article-title":"Fetal aneuploidy screening by maternal plasma DNA sequencing: \u2019false positive\u2019 due to confined placental mosaicism","volume":"33","author":"Choi","year":"2013","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib23","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nrg3424","article-title":"A\u00a0genomic view of mosaicism and human disease","volume":"14","author":"Biesecker","year":"2013","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.ajog.2022.07.004_bib24","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1093\/clinchem\/48.3.421","article-title":"Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation","volume":"48","author":"Lui","year":"2002","journal-title":"Clin Chem"},{"key":"10.1016\/j.ajog.2022.07.004_bib25","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1002\/pd.5529","article-title":"High false-positive non-invasive prenatal screening results for sex chromosome abnormalities: are maternal factors the culprit?","volume":"40","author":"Zhang","year":"2020","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib26","doi-asserted-by":"crossref","first-page":"e1297","DOI":"10.1002\/mgg3.1297","article-title":"Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: report of five cases and systematic review of evidence","volume":"8","author":"Xie","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib27","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1111\/ajo.12432","article-title":"Noninvasive prenatal testing in routine clinical practice--an audit of NIPT and combined first-trimester screening in an unselected Australian population","volume":"56","author":"McLennan","year":"2016","journal-title":"Aust N Z J Obstet Gynaecol"},{"key":"10.1016\/j.ajog.2022.07.004_bib28","doi-asserted-by":"crossref","first-page":"270","DOI":"10.5603\/GP.2019.0050","article-title":"Non-invasive prenatal testing for detection of trisomy 13, 18, 21 and sex chromosome aneuploidies in 8594 cases","volume":"90","author":"Zheng","year":"2019","journal-title":"Ginekol Pol."},{"key":"10.1016\/j.ajog.2022.07.004_bib29","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1056\/NEJMra030360","article-title":"Turner\u2019s syndrome","volume":"351","author":"Sybert","year":"2004","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib30","doi-asserted-by":"crossref","first-page":"G1","DOI":"10.1530\/EJE-17-0430","article-title":"Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting","volume":"177","author":"Gravholt","year":"2017","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ajog.2022.07.004_bib31","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1136\/bmj.312.7022.16","article-title":"Prenatal and postnatal prevalence of Turner\u2019s syndrome: a registry study","volume":"312","author":"Gravholt","year":"1996","journal-title":"BMJ"},{"key":"10.1016\/j.ajog.2022.07.004_bib32","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1111\/j.1365-2265.2007.02807.x","article-title":"Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome","volume":"66","author":"El-Mansoury","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.ajog.2022.07.004_bib33","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1016\/j.fertnstert.2010.12.039","article-title":"Pregnancy rate and outcome in Swedish women with Turner syndrome","volume":"95","author":"Bryman","year":"2011","journal-title":"Fertil Steril"},{"key":"10.1016\/j.ajog.2022.07.004_bib34","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1002\/uog.14627","article-title":"Low-level 45,X\/46,XX mosaicism is not associated with congenital heart disease and thoracic aorta dilatation:prospective magnetic resonance imaging and ultrasound study","volume":"45","author":"Kl\u00e1skov\u00e1","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajog.2022.07.004_bib35","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1530\/EJE-09-0750","article-title":"45,X\/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit","volume":"162","author":"Homer","year":"2010","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ajog.2022.07.004_bib36","doi-asserted-by":"crossref","first-page":"1882","DOI":"10.1038\/s41436-018-0411-z","article-title":"45,X mosaicism in a population-based biobank: implications for Turner syndrome","volume":"21","author":"Prakash","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib37","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1093\/humrep\/dew012","article-title":"Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome","volume":"31","author":"Bernard","year":"2016","journal-title":"Hum Reprod"},{"key":"10.1016\/j.ajog.2022.07.004_bib38","first-page":"845","article-title":"Pubertal development profile in patients with Turner syndrome","volume":"27","author":"Negreiros","year":"2014","journal-title":"J\u00a0Pediatr Endocrinol Metab"},{"key":"10.1016\/j.ajog.2022.07.004_bib39","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1111\/cen.13394","article-title":"The Turner syndrome life course project: karyotype-phenotype analyses across the lifespan","volume":"87","author":"Cameron-Pimblett","year":"2017","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.ajog.2022.07.004_bib40","doi-asserted-by":"crossref","first-page":"4735","DOI":"10.1210\/jc.2008-1049","article-title":"Mortality in women with turner syndrome in Great Britain: a national cohort study","volume":"93","author":"Schoemaker","year":"2008","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.ajog.2022.07.004_bib41","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1016\/S0015-0282(03)00974-9","article-title":"Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey","volume":"80","author":"Karnis","year":"2003","journal-title":"Fertil Steril"},{"key":"10.1016\/j.ajog.2022.07.004_bib42","doi-asserted-by":"crossref","first-page":"E260","DOI":"10.1210\/jc.2010-0925","article-title":"Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome","volume":"96","author":"Chevalier","year":"2011","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.ajog.2022.07.004_bib43","doi-asserted-by":"crossref","first-page":"2251","DOI":"10.1016\/j.fertnstert.2011.03.085","article-title":"Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience","volume":"95","author":"Hadnott","year":"2011","journal-title":"Fertil Steril"},{"key":"10.1016\/j.ajog.2022.07.004_bib44","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/s41574-019-0224-4","article-title":"Turner syndrome: mechanisms and management","volume":"15","author":"Gravholt","year":"2019","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.ajog.2022.07.004_bib45","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1056\/NEJMoa1005669","article-title":"Growth hormone plus childhood low-dose estrogen in Turner\u2019s syndrome","volume":"364","author":"Ross","year":"2011","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib46","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":"Gregg","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib47","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1002\/jgc4.1122","article-title":"Current genetic counseling practice in the United States following positive non-invasive prenatal testing for sex chromosome abnormalities","volume":"28","author":"Fleddermann","year":"2019","journal-title":"J\u00a0Genet Couns"},{"key":"10.1016\/j.ajog.2022.07.004_bib48","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1136\/jmg.33.7.529","article-title":"Confined placental mosaicism","volume":"33","author":"Kalousek","year":"1996","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ajog.2022.07.004_bib49","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1093\/humupd\/dmu016","article-title":"The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans","volume":"20","author":"Taylor","year":"2014","journal-title":"Hum Reprod Update"},{"key":"10.1016\/j.ajog.2022.07.004_bib50","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1002\/pd.4656","article-title":"Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis","volume":"35","author":"Malvestiti","year":"2015","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib51","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1038\/gim.2014.3","article-title":"Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results","volume":"16","author":"Grati","year":"2014","journal-title":"Genet Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib52","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1002\/pd.4639","article-title":"Cell-free DNA screening and sex chromosome aneuploidies","volume":"35","author":"Mennuti","year":"2015","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib53","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1080\/14737159.2021.1911651","article-title":"Noninvasive prenatal screening for fetal sex chromosome aneuploidies","volume":"21","author":"Deng","year":"2021","journal-title":"Expert Rev Mol Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib54","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1002\/pd.5814","article-title":"Confirmation rate of cell free DNA screening for sex chromosomal abnormalities according to the method of confirmatory testing","volume":"41","author":"L\u00fcthgens","year":"2021","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib55","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1002\/pd.4659","article-title":"The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure","volume":"35","author":"Grati","year":"2015","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib56","doi-asserted-by":"crossref","first-page":"85","DOI":"10.21037\/tp-21-617","article-title":"Application of ultrasound combined with noninvasive prenatal testing in prenatal testing","volume":"11","author":"Liu","year":"2022","journal-title":"Transl Pediatr"},{"key":"10.1016\/j.ajog.2022.07.004_bib57","doi-asserted-by":"crossref","DOI":"10.1161\/HCG.0000000000000048","article-title":"Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association","volume":"11","author":"Silberbach","year":"2018","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib58","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1002\/pd.5138","article-title":"Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies","volume":"37","author":"Grati","year":"2017","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib59","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/uog.14636","article-title":"Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis","volume":"45","author":"Akolekar","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajog.2022.07.004_bib60","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajogmf.2020.100152","article-title":"Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing","volume":"2","author":"Martin","year":"2020","journal-title":"Am J Obstet Gynecol MFM"},{"key":"10.1016\/j.ajog.2022.07.004_bib61","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.741752","article-title":"Screening for fetal aneuploidy and sex chromosomal anomalies in a pregnant woman with mosaicism for Turner syndrome-applications and advantages of cell-based NIPT","volume":"12","author":"Jeppesen","year":"2021","journal-title":"Front Genet"},{"key":"10.1016\/j.ajog.2022.07.004_bib62","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/ajmg.c.31783","article-title":"Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X","volume":"184","author":"Sund","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.ajog.2022.07.004_bib63","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1097\/GIM.0b013e3181c684b2","article-title":"Laboratory guideline for Turner syndrome","volume":"12","author":"Wolff","year":"2010","journal-title":"Genet Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib64","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1111\/j.1601-5223.2001.00153.x","article-title":"Genetic analysis of mosaicism in 53 women with Turner syndrome","volume":"134","author":"Hanson","year":"2001","journal-title":"Hereditas"},{"key":"10.1016\/j.ajog.2022.07.004_bib65","first-page":"4","article-title":"Morphological characteristics of monosomy X in spontaneous abortions","volume":"31","author":"Canki","year":"1988","journal-title":"Ann Genet"},{"key":"10.1016\/j.ajog.2022.07.004_bib66","doi-asserted-by":"crossref","first-page":"711","DOI":"10.7863\/jum.2006.25.6.711","article-title":"Prenatal diagnosis of Turner syndrome: report on 69 cases","volume":"25","author":"Papp","year":"2006","journal-title":"J\u00a0Ultrasound Med"},{"key":"10.1016\/j.ajog.2022.07.004_bib67","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1002\/pd.4439","article-title":"Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases","volume":"34","author":"Gruchy","year":"2014","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib68","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1186\/s12913-019-4833-3","article-title":"Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France","volume":"19","author":"Hermann","year":"2019","journal-title":"BMC Health Serv Res"},{"key":"10.1016\/j.ajog.2022.07.004_bib69","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1542\/peds.2003-1122-L","article-title":"Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life","volume":"114","author":"Gunther","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/j.ajog.2022.07.004_bib70","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.1038\/ejhg.2015.109","article-title":"Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening","volume":"23","author":"Dondorp","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ajog.2022.07.004_bib71","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1002\/pd.3975","article-title":"Experts\u2019 opinions on the\u00a0benefit of an incidental prenatal diagnosis of sex chromosomal aneuploidy: a qualitative interview survey","volume":"32","author":"Pieters","year":"2012","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2022.07.004_bib72","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/uog.23740","article-title":"First-trimester ultrasound detection of fetal heart anomalies: systematic review and meta-analysis","volume":"59","author":"Karim","year":"2022","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajog.2022.07.004_bib73","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/0929-693X(96)84683-5","article-title":"[Turner syndrome: spontaneous growth of stature, weight increase and accelerated bone maturation]","volume":"3","author":"Cabrol","year":"1996","journal-title":"Arch Pediatr"},{"key":"10.1016\/j.ajog.2022.07.004_bib74","doi-asserted-by":"crossref","first-page":"X1","DOI":"10.1530\/EJE-15-1000e","article-title":"X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome","volume":"175","author":"Fiot","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.ajog.2022.07.004_bib75","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.clp.2017.11.003","article-title":"Turner Syndrome: diagnostic and management considerations for perinatal clinicians","volume":"45","author":"Redel","year":"2018","journal-title":"Clin Perinatol"},{"key":"10.1016\/j.ajog.2022.07.004_bib76","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1159\/000488347","article-title":"Congenital hyperinsulinism in infants with Turner syndrome: possible association with monosomy X and KDM6A haploinsufficiency","volume":"89","author":"Gibson","year":"2018","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.ajog.2022.07.004_bib77","first-page":"157","article-title":"Growth failure in early life: an important manifestation of Turner syndrome","volume":"57","author":"Davenport","year":"2002","journal-title":"Horm Res"},{"key":"10.1016\/j.ajog.2022.07.004_bib78","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1002\/bdr2.1739","article-title":"Maternal, pregnancy, and neonatal outcomes for women with Turner syndrome","volume":"112","author":"Ramage","year":"2020","journal-title":"Birth Defects Res"},{"key":"10.1016\/j.ajog.2022.07.004_bib79","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.ejogrb.2018.08.005","article-title":"Pregnancy outcome in Turner syndrome: a French multi-center study after the 2009 guidelines","volume":"229","author":"Cadoret","year":"2018","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"10.1016\/j.ajog.2022.07.004_bib80","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1093\/humrep\/det082","article-title":"Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study","volume":"28","author":"Hagman","year":"2013","journal-title":"Hum Reprod"},{"key":"10.1016\/j.ajog.2022.07.004_bib81","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ejogrb.2010.05.019","article-title":"Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy","volume":"152","author":"Cabanes","year":"2010","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"10.1016\/j.ajog.2022.07.004_bib82","doi-asserted-by":"crossref","first-page":"609","DOI":"10.3389\/fendo.2018.00609","article-title":"The usefulness of magnetic resonance imaging of the cardiovascular system in the diagnostic work-up of patients with Turner syndrome","volume":"9","author":"Obara-Moszynska","year":"2018","journal-title":"Front Endocrinol (Lausanne)"},{"key":"10.1016\/j.ajog.2022.07.004_bib83","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1080\/09513590400021227","article-title":"Current and lifetime psychiatric illness in women with Turner syndrome","volume":"19","author":"Cardoso","year":"2004","journal-title":"Gynecol Endocrinol"},{"key":"10.1016\/j.ajog.2022.07.004_bib84","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1001\/jama.295.12.1374","article-title":"Shyness, social anxiety, and impaired self-esteem in Turner syndrome and premature ovarian failure","volume":"295","author":"Schmidt","year":"2006","journal-title":"JAMA"},{"key":"10.1016\/j.ajog.2022.07.004_bib85","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1002\/ajmg.a.61310","article-title":"Recognition and management of adults with Turner syndrome: from the transition of adolescence through the senior years","volume":"179","author":"Lin","year":"2019","journal-title":"Am J Med Genet A"}],"container-title":["American Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002937822005403?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002937822005403?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:10:28Z","timestamp":1778641828000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002937822005403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":85,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["S0002937822005403"],"URL":"https:\/\/doi.org\/10.1016\/j.ajog.2022.07.004","relation":{},"ISSN":["0002-9378"],"issn-type":[{"value":"0002-9378","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome","name":"articletitle","label":"Article Title"},{"value":"American Journal of Obstetrics and Gynecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajog.2022.07.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}