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True human chimerism is rare, with fewer than 100 cases reported in the literature. Here, we report a case in which the fetus was identified as having tetragametic chimerism based on short tandem repeat - polymerase chain reaction analysis of the family observed during amniocentesis for advanced maternal age. The chimerism occurred via the fertilization of two ova by two spermatozoa, followed by the fusion of early embryos. The genotypes of the two amniotic fluid samples obtained successively by one puncture were completely different, and the sex chromosomes were XY. Karyotyping and copy number variation sequencing showed no abnormalities. The fetus was delivered at term and the phenotype of the newborn was normal.<\/jats:p>","DOI":"10.1186\/s12884-024-06321-5","type":"journal-article","created":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T11:02:23Z","timestamp":1707735743000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A prenatal case misunderstood as specimen confusion: 46,XY\/46,XY chimerism"],"prefix":"10.1186","volume":"24","author":[{"given":"Lin","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daishu","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongmei","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingping","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,12]]},"reference":[{"issue":"11","key":"6321_CR1","doi-asserted-by":"publisher","first-page":"1615","DOI":"10.1038\/s41431-020-0697-6","volume":"28","author":"E Nabieva","year":"2020","unstructured":"Nabieva E, Sharma SM, Kapushev Y, Garushyants SK, Fedotova AV, Moskalenko VN, Serebrenikova TE, Glazyrina E, Kanivets IV, Pyankov DV, Neretina TV, Logacheva MD, Bazykin GA, Yarotsky D. Accurate fetal variant calling in the presence of maternal cell contamination. Eur J Hum Genet. 2020;28(11):1615\u201323. https:\/\/doi.org\/10.1038\/s41431-020-0697-6. Epub 2020 Jul 29. PMID: 32728107; PMCID: PMC7576216.","journal-title":"Eur J Hum Genet"},{"key":"6321_CR2","doi-asserted-by":"publisher","unstructured":"Madjunkova S, Tong Li C, Vlasschaert M, Adams M, Chitayat D, Maire G, Kolomietz E. QF-PCR rapid aneuploidy screen and aCGH analysis of cell free fetal (cff) DNA in supernatant of compromised amniotic fluids (AF). Prenat Diagn. 2014;34(10):970-6. https:\/\/doi.org\/10.1002\/pd.4405. Epub 2014 May 29. PMID: 24801814.","DOI":"10.1002\/pd.4405"},{"issue":"5","key":"6321_CR3","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1023\/a:1009924907775","volume":"19","author":"TE Starzl","year":"1998","unstructured":"Starzl TE, Demetris AJ. Transplantation tolerance, microchimerism, and the two-way paradigm. 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Informed consent was obtained from all participants and\/or their legal guardians.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The parents of the fetus provided the written consent for the case report to be published. Informed consent from parents regarding images and clinical details for publication has been obtained.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"126"}}