{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:04:07Z","timestamp":1790420647748,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,9,6]],"date-time":"2017-09-06T00:00:00Z","timestamp":1504656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The unique biological behavior of sex chromosomes has implications for cell\u2010free DNA (cfDNA) testing. Our purpose is to predict the (1) false positive\/negative rates of cfDNA testing consequent to fetoplacental mosaicism for any sex chromosome aneuploidies (SCA) and (2) positive predictive value (PPV) and negative predictive values of a high\u2010risk and low\u2010risk cfDNA result for any SCA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This is a retrospective analysis of 67\u00a0030 chorionic villus sampling karyotypes, including fetoplacental mosaicism cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Non\u2010mosaic 45, X is associated with cystic hygroma\/increased nuchal translucency and fetal anomalies. The false positive rate consequent to confined placental mosaicism is predicted to be 0.05%. The estimated false negative rate is in the range of 0% to 5.7% for all non\u2010mosaic SCAs; it is 70% for mosaic 45, X with normal ultrasound. The predicted PPV on amniocytes is very high for most SCAs (94.4\u201399.4%). However, the stratified analysis shows that the PPV is much lower for 45, X without ultrasound anomalies compared with 45, X with abnormal scan (51% or 71%, vs 99%, respectively).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Mosaicism is a major issue for SCA cfDNA testing, and prenatal confirmation, preferentially with amniocentesis if there are no ultrasound anomalies, remains important in counseling. As PPV varies on the basis of the presence of an ultrasound anomaly, skilled evaluation is critical. \u00a9 2017 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5138","type":"journal-article","created":{"date-parts":[[2017,8,12]],"date-time":"2017-08-12T01:42:36Z","timestamp":1502502156000},"page":"1017-1027","source":"Crossref","is-referenced-by-count":46,"title":["Implications of fetoplacental mosaicism on cell\u2010free DNA testing for sex chromosome aneuploidies"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3836-5190","authenticated-orcid":false,"given":"Francesca Romana","family":"Grati","sequence":"first","affiliation":[{"name":"TOMA, Advanced Biomedical Assays S.p.A.  Busto Arsizio Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0942-3021","authenticated-orcid":false,"given":"Komal","family":"Bajaj","sequence":"additional","affiliation":[{"name":"Albert Einstein College of Medicine  Bronx NY USA"},{"name":"Department of Obstetrics and Gynecology NYC Health + Hospitals\/Jacobi  Bronx NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Zanatta","sequence":"additional","affiliation":[{"name":"TOMA, Advanced Biomedical Assays S.p.A.  Busto Arsizio Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Malvestiti","sequence":"additional","affiliation":[{"name":"TOMA, Advanced Biomedical Assays S.p.A.  Busto Arsizio Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Malvestiti","sequence":"additional","affiliation":[{"name":"TOMA, Advanced Biomedical Assays S.p.A.  Busto Arsizio Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livia","family":"Marcato","sequence":"additional","affiliation":[{"name":"TOMA, Advanced Biomedical Assays S.p.A.  Busto Arsizio Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Grimi","sequence":"additional","affiliation":[{"name":"TOMA, Advanced Biomedical Assays S.p.A.  Busto Arsizio Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Maggi","sequence":"additional","affiliation":[{"name":"TOMA, Advanced Biomedical Assays S.p.A.  Busto Arsizio Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Simoni","sequence":"additional","affiliation":[{"name":"TOMA, Advanced Biomedical Assays S.p.A.  Busto Arsizio Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan J.","family":"Gross","sequence":"additional","affiliation":[{"name":"Albert Einstein College of Medicine  Bronx NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0517-8230","authenticated-orcid":false,"given":"Jose","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Genomed SA  Warsaw Poland"},{"name":"ICOR \u2013 Instituto do Cora\u00e7\u00e3o  Maputo Mozambique"},{"name":"Faculdade de Medicina da Universidade Eduardo Mondlane  Maputo Mozambique"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,6]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"249","article-title":"Analysis of cell\u2010free DNA in maternal blood in screening for aneuploidies: updated meta\u2010analysis","author":"Gil MM","year":"2017","journal-title":"Ultrasound Obstet Gynecol"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2006.060161"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh117"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1517\/14712598.2012.670632"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4656"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2017.02.004"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2012.06593.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384101.2014.998070"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4951"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4659"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.3"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0258(19980430)17:8<873::AID-SIM779>3.0.CO;2-I"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5044"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31437"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35769"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2013.215145"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm3030679"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.10.012"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.08.006"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5039"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4639"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.5138","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.5138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T15:52:06Z","timestamp":1696002726000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.5138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,6]]},"references-count":21,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["10.1002\/pd.5138"],"URL":"https:\/\/doi.org\/10.1002\/pd.5138","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,6]]}}}