{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:27:31Z","timestamp":1790872051016,"version":"4.1.0"},"reference-count":47,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T00:00:00Z","timestamp":1672790400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The health risks associated with transferring embryos classified as mosaic by preimplantation genetic testing for aneuploidies (PGT-A) are currently unknown. Such embryos produce PGT-A results indicating the presence of both euploid and aneuploid cells and have historically been deselected from transfer and grouped with uniformly aneuploid embryos as \u2018abnormal\u2019. In recent years, numerous groups have reported the intentional transfer of mosaic embryos in the absence of uniformly euploid embryos, largely observing births of seemingly healthy babies. However, it remains to be understood whether the embryonic mosaicism invariably becomes resolved during the ensuing pregnancy, or whether the placenta and\/or fetal tissues retain aneuploid cells, and if so to what potential clinical effect. Here, we report two cases of mosaicism persisting from the embryonic stage to the established pregnancy. Case 1 involved an embryonic low-level segmental mosaic loss in Chromosome (Chr) 1, which was confirmed in amniocentesis as well as in brain tissue of the products of conception. This pregnancy was terminated due to the chromosomal pathologies associated with 1p36 deletion syndrome, such as severe intellectual disability. Case 2 involved a low-level mosaic Chr 21 trisomy, which was confirmed with chorionic villus sampling and amniocentesis. The ensuing pregnancy was terminated after ultrasound identification of severe abnormalities in the placenta and fetus. Together, these two cases should be taken into account for risk-benefit assessments of prospective mosaic embryo transfers.<\/jats:p>","DOI":"10.1093\/humrep\/deac263","type":"journal-article","created":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T21:29:19Z","timestamp":1671226159000},"page":"315-323","source":"Crossref","is-referenced-by-count":39,"title":["Two clinical case reports of embryonic mosaicism identified with PGT-A persisting during pregnancy as true fetal mosaicism"],"prefix":"10.1093","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0970-5456","authenticated-orcid":false,"given":"Ermanno","family":"Greco","sequence":"first","affiliation":[{"name":"Villa Mafalda, Centre For Reproductive Medicine , Rome, Italy"},{"name":"Department of Obstetrics and Gynecology, UniCamillus International University , Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1443-9623","authenticated-orcid":false,"given":"Pavel","family":"Yakovlev","sequence":"additional","affiliation":[{"name":"Next Generation Clinic, Centre For Reproductive Medicine , Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6398-2377","authenticated-orcid":false,"given":"Nikolay","family":"Kornilov","sequence":"additional","affiliation":[{"name":"Next Generation Clinic, Centre For Reproductive Medicine , Moscow, Russia"},{"name":"Next Generation Clinic, Centre For Reproductive Medicine , St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Vyatkina","sequence":"additional","affiliation":[{"name":"Next Generation Clinic, Centre For Reproductive Medicine , St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Bogdanova","sequence":"additional","affiliation":[{"name":"Next Generation Clinic, Centre For Reproductive Medicine , Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Ermakova","sequence":"additional","affiliation":[{"name":"Medical Genetic Center of the Group of companies \u201cMother and Child\u201d , Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7059-1585","authenticated-orcid":false,"given":"Yulia","family":"Tarasova","sequence":"additional","affiliation":[{"name":"Medical Genetic Center of the Group of companies \u201cMother and Child\u201d , Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrei","family":"Tikhonov","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction , Saint Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9182-9188","authenticated-orcid":false,"given":"Anna","family":"Pendina","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction , Saint Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anil","family":"Biricik","sequence":"additional","affiliation":[{"name":"Eurofins Genoma Group, Molecular Genetics Laboratories , Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Sessa","sequence":"additional","affiliation":[{"name":"Eurofins Genoma Group, Molecular Genetics Laboratories , Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Listorti","sequence":"additional","affiliation":[{"name":"Villa Mafalda, Centre For Reproductive Medicine , Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Ronsini","sequence":"additional","affiliation":[{"name":"Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, University of Campania Luigi Vanvitelli , Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pier Francesco","family":"Greco","sequence":"additional","affiliation":[{"name":"Villa Mafalda, Centre For Reproductive Medicine , Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Victor","sequence":"additional","affiliation":[{"name":"Zouves Fertility Center , Foster City, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Barnes","sequence":"additional","affiliation":[{"name":"Zouves Fertility Center , Foster City, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christo","family":"Zouves","sequence":"additional","affiliation":[{"name":"Zouves Fertility Center , Foster City, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2108-7075","authenticated-orcid":false,"given":"Francesca","family":"Spinella","sequence":"additional","affiliation":[{"name":"Eurofins Genoma Group, Molecular Genetics Laboratories , Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1844-2571","authenticated-orcid":false,"given":"Manuel","family":"Viotti","sequence":"additional","affiliation":[{"name":"Zouves Fertility Center , Foster City, CA, USA"},{"name":"Zouves Foundation for Reproductive Medicine , Foster City, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,1,4]]},"reference":[{"key":"2023020109042572700_deac263-B1","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1002\/pd.5161","article-title":"Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using 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