{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T11:22:56Z","timestamp":1761218576792,"version":"build-2065373602"},"reference-count":40,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,4,14]],"date-time":"2023-04-14T00:00:00Z","timestamp":1681430400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["122041500061-8","SP-3297.2022.4"],"award-info":[{"award-number":["122041500061-8","SP-3297.2022.4"]}]},{"name":"RF President Scholarship","award":["122041500061-8","SP-3297.2022.4"],"award-info":[{"award-number":["122041500061-8","SP-3297.2022.4"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, and X. A series of ultrasound examinations revealed increased chorion thickness at 13\/14 weeks of gestation and fetal growth retardation, a hyperechoic bowel, challenging visualization of the kidneys, dolichocephaly, ventriculomegaly, increase in placental thickness, and pronounced oligohydramnios at 16\/17 weeks of gestation. The patient was referred to our center for an invasive prenatal diagnosis. The patient\u2019s blood and placenta were sampled for whole-genome sequencing-based NIPT and array comparative genomic hybridization (aCGH), respectively. Both investigations revealed trisomy 2. Further prenatal genetic testing in order to confirm trisomy 2 in amniocytes and\/or fetal blood was highly questionable because oligohydramnios and fetal growth retardation made amniocentesis and cordocentesis technically unfeasible. The patient opted to terminate the pregnancy. Pathological examination of the fetus revealed internal hydrocephalus, atrophy of brain structure, and craniofacial dysmorphism. Conventional cytogenetic analysis and fluorescence in situ hybridization revealed chromosome 2 mosaicism with a prevalence of trisomic clone in the placenta (83.2% vs. 16.8%) and a low frequency of trisomy 2, which did not exceed 0.6% in fetal tissues, advocating for low-level true fetal mosaicism. To conclude, in pregnancies at risk of fetal chromosomal abnormalities that refuse invasive prenatal diagnosis, whole-genome sequencing-based NIPT, but not targeted NIPT, should be considered. In prenatal cases of trisomy 2, true mosaicism should be distinguished from placental-confined mosaicism using cytogenetic analysis of amniotic fluid cells or fetal blood cells. However, if material sampling is impossible due to oligohydramnios and\/or fetal growth retardation, further decisions should be based on a series of high-resolution fetal ultrasound examinations. Genetic counseling for the risk of uniparental disomy in a fetus is also required.<\/jats:p>","DOI":"10.3390\/genes14040913","type":"journal-article","created":{"date-parts":[[2023,4,14]],"date-time":"2023-04-14T10:29:16Z","timestamp":1681468156000},"page":"913","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing"],"prefix":"10.3390","volume":"14","author":[{"given":"Olga E.","family":"Talantova","sequence":"first","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6587-9429","authenticated-orcid":false,"given":"Alla S.","family":"Koltsova","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrei V.","family":"Tikhonov","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna A.","family":"Pendina","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8626-5071","authenticated-orcid":false,"given":"Olga V.","family":"Malysheva","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga A.","family":"Tarasenko","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena S.","family":"Vashukova","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena S.","family":"Shabanova","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1613-222X","authenticated-orcid":false,"given":"Arina V.","family":"Golubeva","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Department of Genetics and Biotechnology, St. Petersburg State University, Universitetskaya emb., 7\/9, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga G.","family":"Chiryaeva","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7465-4504","authenticated-orcid":false,"given":"Andrey S.","family":"Glotov","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olesya N.","family":"Bespalova","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4495-0983","authenticated-orcid":false,"given":"Olga A.","family":"Efimova","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s10815-013-0148-1","article-title":"A Comparative Cytogenetic Study of Miscarriages after IVF and Natural Conception in Women Aged under and over 35 Years","volume":"31","author":"Pendina","year":"2014","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000477707","article-title":"Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes","volume":"152","author":"Soler","year":"2017","journal-title":"Cytogenet. 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