{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T23:17:27Z","timestamp":1789773447275,"version":"4.0.1"},"reference-count":11,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T00:00:00Z","timestamp":1590624000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81602863"],"award-info":[{"award-number":["81602863"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Placental mosaicism is one of the major reasons for noninvasive prenatal testing (NIPT) discrepancy. Herein, we discovered a rare case of placenta with complex karyotypes that caused false\u2010positive and false\u2010negative results in noninvasive prenatal testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Next\u2010generation sequencing (NGS) and Quantitative fluorescent polymerase chain reaction (QF\u2010PCR) were performed on the cord blood sample, fetal tissues, and eight placental biopsies. Fluorescent In Situ Hybridization (FISH) and karyotyping were also carried to confirm the fetal genome status.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The results suggested that the fetal chromosome was 47,XXX and the placenta had three karyotypes of 48,XXX,+21, 47,XX,+21, and 47,XXX. QF\u2010PCR indicated that the extra chromosome 21 and chromosome X were all from the father. It is speculated that the zygote may have 48,XXX,+21 karyotype and trisomy rescue could be the main mechanism for the development of the homogeneous fetus and complex mosaic placenta.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Overall, the complicated nature of our case underlines the importance of discussing with parents the possibility of both atypical and discordant results during preconfirmatory amniocentesis counseling and consent.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1279","type":"journal-article","created":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T11:49:31Z","timestamp":1590666571000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5041-8507","authenticated-orcid":false,"given":"Jin","family":"Li","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Zhongnan Hospital Wuhan university Wuhan Hubei P. R. China"},{"name":"Hubei Clinical Research Center for prenatal Diagnosis and Birth Health Wuhan Hubei P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingshui","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Suizhou Central People's Hospital Suizhou Hubei P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Wang","sequence":"additional","affiliation":[{"name":"Hubei Clinical Research Center for prenatal Diagnosis and Birth Health Wuhan Hubei P. R. China"},{"name":"Department of Obstetrics and gynecology Zhongnan Hospital Wuhan University Wuhan Hubei P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianhong","family":"Ma","sequence":"additional","affiliation":[{"name":"Hubei Clinical Research Center for prenatal Diagnosis and Birth Health Wuhan Hubei P. R. China"},{"name":"Department of Obstetrics and gynecology Zhongnan Hospital Wuhan University Wuhan Hubei P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiafu","family":"Li","sequence":"additional","affiliation":[{"name":"Hubei Clinical Research Center for prenatal Diagnosis and Birth Health Wuhan Hubei P. R. China"},{"name":"Department of Obstetrics and gynecology Zhongnan Hospital Wuhan University Wuhan Hubei P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3782-827X","authenticated-orcid":false,"given":"Chen","family":"Chen","sequence":"additional","affiliation":[{"name":"Zhejiang Annoroad Biotechnology Co., Ltd Zhejiang P.R. China"},{"name":"Annoroad Life Sciences Research Institute Zhejiang P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhimin","family":"Li","sequence":"additional","affiliation":[{"name":"Annoroad Gene Technology (Beijing) Co., Ltd Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2971-5099","authenticated-orcid":false,"given":"Juan","family":"Wang","sequence":"additional","affiliation":[{"name":"Annoroad Gene Technology (Beijing) Co., Ltd Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4832-7902","authenticated-orcid":false,"given":"Yuanzhen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Hubei Clinical Research Center for prenatal Diagnosis and Birth Health Wuhan Hubei P. R. China"},{"name":"Department of Obstetrics and gynecology Zhongnan Hospital Wuhan University Wuhan Hubei P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5619-1614","authenticated-orcid":false,"given":"Yirong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Zhongnan Hospital Wuhan university Wuhan Hubei P. R. China"},{"name":"Hubei Clinical Research Center for prenatal Diagnosis and Birth Health Wuhan Hubei P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,28]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"ACC Professional Guidelines for Clinical Cytogenetics. (2012).QF\u2010PCR for the diagnosis of aneuploidy. 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