{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T15:59:11Z","timestamp":1792511951365,"version":"4.5.0"},"reference-count":118,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T00:00:00Z","timestamp":1620864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Department of Obstetrics and Gynaecology"},{"name":"Department of Clinical Genetics"},{"name":"Erasmus MC University Medical Center"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>Chromosomal mosaicism can be detected in different stages of early life: in cleavage stage embryos, in blastocysts and biopsied cells from blastocysts during preimplantation genetic testing for aneuploidies (PGT-A) and later during prenatal testing, as well as after birth in cord blood. Mosaicism at all different stages can be associated with adverse pregnancy outcomes. There is an onward discussion about whether blastocysts diagnosed as chromosomally mosaic by PGT-A should be considered safe for transfer. An accurate diagnosis of mosaicism remains technically challenging and the fate of abnormal cells within an embryo remains largely unknown. However, if aneuploid cells persist in the extraembryonic tissues, they can give rise to confined placental mosaicism (CPM). Non-invasive prenatal testing (NIPT) uses cell-free (cf) DNA released from the placenta in maternal blood, facilitating the detection of CPM. In literature, conflicting evidence is found about whether CPM is associated with fetal growth restriction (FGR) and\/or other pregnancy outcomes. This makes counselling for patients by clinicians challenging and more knowledge is needed for clinical decision and policy making.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBJECTIVE AND RATIONALE<\/jats:title>\n                    <jats:p>The objective of this review is to evaluate the association between CPM and prenatal growth and adverse pregnancy outcomes. All relevant literature has been reviewed in order to achieve an overview on merged results exploring the relation between CPM and FGR and other adverse pregnancy outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>SEARCH METHODS<\/jats:title>\n                    <jats:p>The following Medical Subject Headings (MESH) terms and all their synonyms were used: placental, trophoblast, cytotrophoblast, mosaicism, trisomy, fetal growth, birth weight, small for gestational age and fetal development. A search in Embase, PubMed, Medline Ovid, Web of Science, Cochrane Central Register of Controlled Trials (CENTRAL) and Google Scholar databases was conducted. Relevant articles published until 16 July 2020 were critically analyzed and discussed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OUTCOMES<\/jats:title>\n                    <jats:p>There were 823 articles found and screened based on their title\/abstract. From these, 213 articles were selected and full text versions were obtained for a second selection, after which 70 publications were included and 328 cases (fetuses) were analyzed. For CPM in eight different chromosomes (of the total 14 analyzed), there was sufficient evidence that birth weight was often below the 5th percentile of fetal growth standards. FGR was reported in 71.7% of CPM cases and preterm birth (&amp;lt;37\u2009weeks of delivery) was reported in 31.0% of cases. A high rate of structural fetal anomalies, 24.2%, in cases with CPM was also identified. High levels of mosaicism in CVS and presence of uniparental disomy (UPD) were significantly associated with adverse pregnancy outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>WIDER IMPLICATIONS<\/jats:title>\n                    <jats:p>Based on the literature, the advice to clinicians is to monitor fetal growth intensively from first trimester onwards in case of CPM, especially when chromosome 2, 3, 7, 13, 15, 16 and 22 are involved. In addition to this, it is advised to examine the fetuses thoroughly for structural fetal anomalies and raise awareness of a higher chance of (possibly extreme) premature birth. Despite prematurity in nearly a fifth of cases, the long-term follow-up of CPM life borns seems to be positive. More understanding of the biological mechanisms behind CPM will help in prioritizing embryos for transfer after the detection of mosaicism in embryos through PGT-A.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/humupd\/dmab009","type":"journal-article","created":{"date-parts":[[2021,2,15]],"date-time":"2021-02-15T15:29:45Z","timestamp":1613402985000},"page":"885-903","source":"Crossref","is-referenced-by-count":128,"title":["Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature"],"prefix":"10.1093","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0172-2529","authenticated-orcid":false,"given":"Geerke M","family":"Eggenhuizen","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam 3015CN, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9206-5279","authenticated-orcid":false,"given":"Attie","family":"Go","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam 3015CN, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8942-6045","authenticated-orcid":false,"given":"Maria P H","family":"Koster","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam 3015CN, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2611-3148","authenticated-orcid":false,"given":"Esther B","family":"Baart","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam 3015CN, The Netherlands"},{"name":"Department of Developmental Biology, Erasmus MC, University Medical Center, Rotterdam 3015CN, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8101-6180","authenticated-orcid":false,"given":"Robert Jan","family":"Galjaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam 3015CN, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,5,13]]},"reference":[{"key":"2021082406004100800_dmab009-B1","doi-asserted-by":"crossref","first-page":"R156","DOI":"10.1016\/j.cub.2019.01.036","article-title":"Chromosome segregation: poor supervision in the early stage of life","volume":"29","author":"Akera","year":"2019","journal-title":"Curr Biol"},{"key":"2021082406004100800_dmab009-B2","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/pd.1433","article-title":"Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism","volume":"26","author":"Amor","year":"2006","journal-title":"Prenat Diagn"},{"key":"2021082406004100800_dmab009-B4040697","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1002\/ajmg.1320400418","article-title":"Trisomy 9 confined to the placenta: prenatal diagnosis and neonatal follow-up","volume":"40","author":"Appelman","year":"1991","journal-title":"Am J Med Genet"},{"key":"2021082406004100800_dmab009-B151","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1002\/(SICI)1097-0223(199702)17:2<180::AID-PD31>3.0.CO;2-#","article-title":"Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation","volume":"17","author":"Ariel","year":"1997","journal-title":"Prenat Diagn"},{"key":"2021082406004100800_dmab009-B43594286","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1002\/(SICI)1097-0223(199812)18:12<1308::AID-PD443>3.0.CO;2-H","article-title":"Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature","volume":"18","author":"Astner","year":"1998","journal-title":"Prenatal Diagnosis"},{"key":"2021082406004100800_dmab009-B3","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1093\/humrep\/dei291","article-title":"Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF","volume":"21","author":"Baart","year":"2006","journal-title":"Hum Reprod"},{"key":"2021082406004100800_dmab009-B4","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1002\/pd.1742","article-title":"Prenatal diagnosis of complete trisomy 19q","volume":"27","author":"Babic","year":"2007","journal-title":"Prenat Diagn"},{"key":"2021082406004100800_dmab009-B152","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1002\/(SICI)1097-0223(199911)19:11<1061::AID-PD687>3.0.CO;2-Q","article-title":"Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta","volume":"19","author":"Balmer","year":"1999","journal-title":"Prenat Diagn"},{"key":"2021082406004100800_dmab009-B5","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1007\/s10038-004-0164-1","article-title":"Trisomy 1 in a case of a missed abortion","volume":"49","author":"Banzai","year":"2004","journal-title":"J Hum Genet"},{"key":"2021082406004100800_dmab009-B6","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1002\/(SICI)1096-8628(19980901)79:2<121::AID-AJMG8>3.0.CO;2-T","article-title":"Trisomy 16 and trisomy 16 mosaicism: A review","volume":"79","author":"Benn","year":"1998","journal-title":"Am J Med Genet"},{"key":"2021082406004100800_dmab009-B7","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1016\/0140-6736(92)92980-T","article-title":"Association between confined placental trisomy, fetal uniparental disomy, and early intrauterine growth retardation [1]","volume":"340","author":"Bennett","year":"1992","journal-title":"Lancet"},{"key":"2021082406004100800_dmab009-B8","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1097\/AOG.0000000000000679","article-title":"Association of reported trimester-specific smoking cessation with fetal growth restriction","volume":"125","author":"Blatt","year":"2015","journal-title":"Obstet Gynecol"},{"key":"2021082406004100800_dmab009-B9","doi-asserted-by":"crossref","first-page":"11165","DOI":"10.1038\/ncomms11165","article-title":"Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential","volume":"7","author":"Bolton","year":"2016","journal-title":"Nat Commun"},{"key":"2021082406004100800_dmab009-B10","first-page":"317","article-title":"Chromosome abnormalities and abortion Review","volume":"4","author":"Boue","year":"1974","journal-title":"Basic Life 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Three observations: triple trisomy 6,21,22; trisomy 16; and trisomy 18","volume":"10","author":"Kennerknecht","year":"1990","journal-title":"Prenat Diagn"},{"key":"2021082406004100800_dmab009-B38","first-page":"A378","article-title":"Intrauterine growth restriction (IUGR) associated with confined placental mosaicism of ring chromosome 15","volume":"61","author":"Kim","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2021082406004100800_dmab009-B0045208","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/1097-0223(200101)21:1<36::AID-PD979>3.0.CO;2-1","article-title":"Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy","volume":"21","author":"Kuchinka","year":"2001","journal-title":"Prenatal Diagnosis"},{"key":"2021082406004100800_dmab009-B156","first-page":"1","article-title":"Intrauterine growth restriction associated with paternal isodisomy of chromosome 5: a clinical report and literature survey","author":"Kunwar","year":"2018","journal-title":"J Matern Fetal Neonatal Med"},{"key":"2021082406004100800_dmab009-B39","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1016\/S0022-3476(87)80543-7","article-title":"Predictive value of minor anomalies. I. Association with major malformations","volume":"110","author":"Leppig","year":"1987","journal-title":"J Pediatr"},{"key":"2021082406004100800_dmab009-B5073143","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.ajog.2019.05.030","article-title":"Confined placental trisomy detection through cell-free DNA in the maternal circulation: Benefit for\u00a0pregnancy management","volume":"221","author":"Li","year":"2019","journal-title":"Am J Obstet Gynecol"},{"key":"2021082406004100800_dmab009-B40","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1093\/humupd\/8.4.333","article-title":"Conception to ongoing pregnancy: the \u2018black box\u2019 of early pregnancy loss","volume":"8","author":"Macklon","year":"2002","journal-title":"Hum Reprod Update"},{"key":"2021082406004100800_dmab009-B41","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/S0022-3476(64)80188-8","article-title":"Congenital Anomalies in the Newborn Infant, Including Minor Variations. A Study of 4,412 Babies by Surface Examination for Anomalies and Buccal Smear for Sex Chromatin","volume":"64","author":"Marden","year":"1964","journal-title":"J Pediatr"},{"key":"2021082406004100800_dmab009-B42","author":"Marin","year":"2020"},{"key":"2021082406004100800_dmab009-B43","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.tig.2017.04.001","article-title":"Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm","volume":"33","author":"McCoy","year":"2017","journal-title":"Trends Genet"},{"key":"2021082406004100800_dmab009-B44","doi-asserted-by":"crossref","first-page":"e1005601","DOI":"10.1371\/journal.pgen.1005601","article-title":"Evidence of Selection against Complex Mitotic-Origin Aneuploidy during Preimplantation Development","volume":"11","author":"McCoy","year":"2015","journal-title":"PLoS 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