{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:45:27Z","timestamp":1791002727123,"version":"4.1.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T00:00:00Z","timestamp":1660262400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T00:00:00Z","timestamp":1660262400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","award":["2017J01238"],"award-info":[{"award-number":["2017J01238"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Early and intermediate serological screening cannot detect sex chromosome abnormalities. Currently, noninvasive prenatal testing (NIPT) is the only procedure available for screening such disorders; however, its use is controversial.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Results<\/jats:title>\n                    <jats:p>A total of 47,855 pregnant women underwent NIPT at our referral center from January 2014 to December 2020. Of the 314 patients with a positive NIPT indicating sex chromosome abnormalities, 260 were screened via karyotype analysis and single nucleotide polymorphism (SNP) array after amniotic fluid extraction; 96 cases were confirmed. Karyotype analysis and SNP array were consistent in the diagnosis of 88 out of the 96 fetuses. The positive predictive value (PPV) for sex chromosome abnormalities was found to be 36.9%. The PPV in patients aged 30\u201334\u00a0years was significantly higher than that in patients aged\u2009&lt;\u200930\u00a0years. No statistically significant difference was observed on the PPV among patients with or without previous adverse pregnancy outcomes. Moreover, 83 women carrying fetuses were diagnosed with a sex chromosome abnormality terminated their pregnancy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Improvements in detection and analytical technologies are needed to increase the accuracy of sex chromosome abnormalities detection. Pregnant women with a positive NIPT for these abnormalities may require invasive diagnostic procedures such as karyotype analysis and SNP array for better genetic counseling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s11033-022-07754-x","type":"journal-article","created":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T08:05:44Z","timestamp":1660291544000},"page":"9251-9256","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities"],"prefix":"10.1007","volume":"49","author":[{"given":"Nan","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meiying","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huili","family":"Xue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailong","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liangpu","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,8,12]]},"reference":[{"issue":"1","key":"7754_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000357198","volume":"35","author":"KH Nicolaides","year":"2014","unstructured":"Nicolaides KH, Musci TJ, Struble CA (2014) Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther 35(1):1\u20136","journal-title":"Fetal Diagn Ther"},{"key":"7754_CR2","first-page":"1","volume":"09","author":"N Bouw","year":"2021","unstructured":"Bouw N, Swaab H, Tartaglia N (2021) The impact of sex chromosome trisomies (XXX, XXY, XYY) on early social cognition: social orienting, joint attention, and theory of mind. Arch Clin Neuropsychol 09:1\u201310","journal-title":"Arch Clin Neuropsychol"},{"issue":"5","key":"7754_CR3","doi-asserted-by":"publisher","first-page":"668","DOI":"10.3109\/14767058.2010.520769","volume":"24","author":"S Bouchlariotou","year":"2011","unstructured":"Bouchlariotou S, Tsikouras P, Dimitraki M (2011) Turner\u2019s syndrome and pregnancy: has the 45, X\/47, XXX mosaicism a different prognosis? Own clinical experience and literature review. J Matern Fetal Neonatal Med 24(5):668\u2013672","journal-title":"J Matern Fetal Neonatal Med"},{"issue":"9076","key":"7754_CR4","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1016\/S0140-6736(97)02174-0","volume":"350","author":"Y Lo","year":"1997","unstructured":"Lo Y, Corbetta N, Chamberlain PF (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350(9076):485\u2013487","journal-title":"Lancet"},{"issue":"3","key":"7754_CR5","doi-asserted-by":"publisher","first-page":"205.e1","DOI":"10.1016\/j.ajog.2010.12.060","volume":"204","author":"E Mathias","year":"2011","unstructured":"Mathias E, Cosmin D, Tricia Z (2011) Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 204(3):205.e1\u201311","journal-title":"Am J Obstet Gynecol"},{"issue":"7","key":"7754_CR6","doi-asserted-by":"publisher","first-page":"e21791","DOI":"10.1371\/journal.pone.0021791","volume":"6","author":"EZ Chen","year":"2011","unstructured":"Chen EZ, Chiu R, Hao S (2011) Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE 6(7):e21791","journal-title":"PLoS ONE"},{"issue":"5","key":"7754_CR7","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1038\/ejhg.2011.246","volume":"20","author":"D Wellesley","year":"2012","unstructured":"Wellesley D, Dolk H, Boyd PA (2012) Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 20(5):521\u2013526","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"7754_CR8","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1016\/j.ajog.2014.07.015","volume":"211","author":"FR Grati","year":"2014","unstructured":"Grati FR, Ferreira JCPB, Bajaj K (2014) Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA\u2014ScienceDirect. Am J Obstet Gynecol 211(6):711\u2013712","journal-title":"Am J Obstet Gynecol"},{"issue":"1","key":"7754_CR9","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1111\/bioe.12122","volume":"29","author":"AD Jong","year":"2015","unstructured":"Jong AD, Wert GD (2015) Prenatal screening: an ethical agenda for the near future. Bioethics 29(1):46\u201355","journal-title":"Bioethics"},{"issue":"1","key":"7754_CR10","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1002\/uog.14699","volume":"45","author":"M Teoh","year":"2015","unstructured":"Teoh M, Palma-Dias R et al (2015) Clinical implementation of cell-free DNA-based aneuploidy screening: perspectives from a national audit. Ultrasound Obstet Gynecol 45(1):10\u201315","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"6","key":"7754_CR11","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1080\/14737159.2019.1613154","volume":"19","author":"Y Xu","year":"2019","unstructured":"Xu Y, Chen L, Liu Y (2019) Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy. Expert Rev Mol Diagn 19(6):537\u2013542","journal-title":"Expert Rev Mol Diagn"},{"issue":"6","key":"7754_CR12","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1080\/14737159.2019.1613154","volume":"19","author":"R Akolekar","year":"2019","unstructured":"Akolekar R, Quezada MS, et al (2019) Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Expert Rev Mol Diagn 19(6):537\u2013542","journal-title":"Expert Rev Mol Diagn"},{"issue":"1","key":"7754_CR13","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/s40246-020-00268-2","volume":"14","author":"Y Liu","year":"2020","unstructured":"Liu Y, Liu H, He Y (2020) Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China. Hum Genomics 14(1):21","journal-title":"Hum Genomics"},{"issue":"11","key":"7754_CR14","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1038\/gim.2013.129","volume":"15","author":"ST South","year":"2013","unstructured":"South ST, Lee C, Lamb AN (2013) ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med 15(11):901\u2013909","journal-title":"Genet Med"},{"issue":"7","key":"7754_CR15","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1097\/GIM.0b013e3182217a3a","volume":"13","author":"HM Kearney","year":"2011","unstructured":"Kearney HM, Thorland EC, Brown KK (2011) American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 13(7):680\u2013685","journal-title":"Genet Med"},{"issue":"5","key":"7754_CR16","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1002\/pd.5039","volume":"37","author":"RE Reiss","year":"2017","unstructured":"Reiss RE, Discenza M, Foster J (2017) Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous? Prenat Diagn 37(5):515\u2013520","journal-title":"Prenat Diagn"},{"issue":"6","key":"7754_CR17","doi-asserted-by":"publisher","first-page":"691.e1","DOI":"10.1016\/j.ajog.2017.10.005","volume":"217","author":"AK Petersen","year":"2017","unstructured":"Petersen AK, Cheung SW, Smith JL (2017) Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol 217(6):691.e1-691.e6","journal-title":"Am J Obstet Gynecol"},{"issue":"3","key":"7754_CR18","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1038\/gim.2014.92","volume":"17","author":"JC Wang","year":"2015","unstructured":"Wang JC, Sahoo T, Schonberg S (2015) Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med 17(3):234\u2013236","journal-title":"Genet Med"},{"issue":"2","key":"7754_CR19","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1177\/0300060517695008","volume":"45","author":"B Zhang","year":"2017","unstructured":"Zhang B, Lu BY, Yu B (2017) Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood. J Int Med Res 45(2):621\u2013630","journal-title":"J Int Med Res"},{"issue":"27","key":"7754_CR20","doi-asserted-by":"publisher","first-page":"e7114","DOI":"10.1097\/MD.0000000000007114","volume":"96","author":"B Yu","year":"2017","unstructured":"Yu B, Lu BY, Zhang B (2017) Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood. Medicine (Baltimore) 96(27):e7114","journal-title":"Medicine (Baltimore)"},{"issue":"5","key":"7754_CR21","doi-asserted-by":"publisher","first-page":"890","DOI":"10.1097\/AOG.0b013e31824fb482","volume":"119","author":"DW Bianchi","year":"2012","unstructured":"Bianchi DW, Sehnert AJ, Rava RP (2012) Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 119(5):890\u2013901","journal-title":"Obstet Gynecol"},{"issue":"1","key":"7754_CR22","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1111\/jcmm.16080","volume":"25","author":"Y Zhang","year":"2021","unstructured":"Zhang Y, Zhong M, Zheng D (2021) Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis. J Cell Mol Med 25(1):358\u2013366","journal-title":"J Cell Mol Med"},{"issue":"23","key":"7754_CR23","doi-asserted-by":"publisher","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","volume":"367","author":"RJ Wapner","year":"2012","unstructured":"Wapner RJ, Martin CL, Levy B (2012) Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 367(23):2175\u20132184","journal-title":"N Engl J Med"},{"issue":"4","key":"7754_CR24","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1002\/pd.2933","volume":"32","author":"PD Brady","year":"2012","unstructured":"Brady PD, Vermeesch JR (2012) Genomic microarrays: a technology overview. Prenat Diagn 32(4):336\u2013343","journal-title":"Prenat Diagn"},{"issue":"2","key":"7754_CR25","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1016\/j.cll.2016.01.017","volume":"36","author":"W Karen","year":"2016","unstructured":"Karen W, Brynn L, Ronald JW (2016) Chromosomal microarrays for the prenatal detection of microdeletions and microduplications. Clin Lab Med 36(2):261\u2013276","journal-title":"Clin Lab Med"},{"issue":"2","key":"7754_CR26","first-page":"181","volume":"71","author":"K Hayata","year":"2017","unstructured":"Hayata K, Hiramatsu Y, Masuyama H (2017) Discrepancy between non-invasive prenatal genetic testing (NIPT) and amniotic chromosomal test due to placental mosaicism: a case report and literature review. Acta Med Okayama 71(2):181\u2013185","journal-title":"Acta Med Okayama"},{"issue":"1","key":"7754_CR27","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1093\/molehr\/7.1.49","volume":"7","author":"S Nury","year":"2001","unstructured":"Nury S, Jacques C, Herrera RJ (2001) Association between spindle assembly checkpoint expression and maternal age in human oocytes. Mol Hum Reprod 7(1):49\u201355","journal-title":"Mol Hum Reprod"},{"issue":"1","key":"7754_CR28","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1002\/(SICI)1097-0223(200001)20:1<37::AID-PD748>3.0.CO;2-G","volume":"20","author":"SM Christian","year":"2000","unstructured":"Christian SM, Koehn D, Pillay R (2000) Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: a trend over time. Prenat Diagn 20(1):37\u201340","journal-title":"Prenat Diagn"},{"issue":"12","key":"7754_CR29","doi-asserted-by":"publisher","first-page":"1821","DOI":"10.1111\/jog.13451","volume":"43","author":"PL So","year":"2017","unstructured":"So PL, Cheng KYY, Cheuk KY (2017) Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong. J Obstet Gynaecol Res 43(12):1821\u20131829","journal-title":"J Obstet Gynaecol Res"},{"issue":"1","key":"7754_CR30","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/gim.0b013e31822e57a7","volume":"14","author":"KC Jeon","year":"2012","unstructured":"Jeon KC, Chen LS, Goodson P (2012) Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature. Genet Med 14(1):27\u201338","journal-title":"Genet Med"}],"container-title":["Molecular Biology Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-022-07754-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11033-022-07754-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-022-07754-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,27]],"date-time":"2022-09-27T08:18:46Z","timestamp":1664266726000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11033-022-07754-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,12]]},"references-count":30,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["7754"],"URL":"https:\/\/doi.org\/10.1007\/s11033-022-07754-x","relation":{},"ISSN":["0301-4851","1573-4978"],"issn-type":[{"value":"0301-4851","type":"print"},{"value":"1573-4978","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,12]]},"assertion":[{"value":"23 March 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 June 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 August 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no competing interests to declare that are relevant to the content of this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interest"}},{"value":"All procedures involving women were performed in accordance with the ethics committee of the Fujian Maternal and Child Health Hospital.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"All women consented to participate. Informed consent was obtained from all women included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}