Sevim Tuncer Can, Hakan Golbasi, Burak Bayraktar, Berk Ozyilmaz, Ibrahim Omeroglu, Raziye Torun, Ceren Saglam, Ilayda Gercik, Orhan Nural, Hale Ankara Aktas, Atalay Ekin
{"title":"罕见常染色体三体的产前发现和围产期结局：一项回顾性队列研究。","authors":"Sevim Tuncer Can, Hakan Golbasi, Burak Bayraktar, Berk Ozyilmaz, Ibrahim Omeroglu, Raziye Torun, Ceren Saglam, Ilayda Gercik, Orhan Nural, Hale Ankara Aktas, Atalay Ekin","doi":"10.1080/15513815.2025.2520251","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the incidence, prenatal findings, and pregnancy outcomes of rare autosomal trisomies (RATs).</p><p><strong>Methods: </strong>This retrospective cohort study included cases diagnosed <i>via</i> chorionic villus sampling, amniocentesis, or fetal cord blood sampling. Data collected included maternal demographics, gestational age, first-trimester screening results, ultrasound findings, genetic analyses, and pregnancy outcomes.</p><p><strong>Results: </strong>A total of 354 cases of common trisomies and 18 cases of RATs (trisomies 2, 5, 7, 8, 9, 12, 20, and 22) were identified. Common trisomies were associated with higher maternal age (<i>p</i> = 0.003) and advanced maternal age rates (≥35 years) (<i>p</i> = 0.009). Fetal (61.1% vs. 1.7%) and confined placental mosaicism (22.2% vs. 0.3%) were significantly more frequent in RATs (<i>p</i> < 0.001, for all). Ultrasound anomalies were observed in 11 of 18 (61.1%) RATs, with trisomy 22 frequently involving craniofacial and cardiac abnormalities.</p><p><strong>Conclusion: </strong>RATs display diverse clinical outcomes. Mosaicism and ultrasound findings are critical for assessing prognosis and guiding clinical management.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"357-371"},"PeriodicalIF":0.7000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study.\",\"authors\":\"Sevim Tuncer Can, Hakan Golbasi, Burak Bayraktar, Berk Ozyilmaz, Ibrahim Omeroglu, Raziye Torun, Ceren Saglam, Ilayda Gercik, Orhan Nural, Hale Ankara Aktas, Atalay Ekin\",\"doi\":\"10.1080/15513815.2025.2520251\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To evaluate the incidence, prenatal findings, and pregnancy outcomes of rare autosomal trisomies (RATs).</p><p><strong>Methods: </strong>This retrospective cohort study included cases diagnosed <i>via</i> chorionic villus sampling, amniocentesis, or fetal cord blood sampling. Data collected included maternal demographics, gestational age, first-trimester screening results, ultrasound findings, genetic analyses, and pregnancy outcomes.</p><p><strong>Results: </strong>A total of 354 cases of common trisomies and 18 cases of RATs (trisomies 2, 5, 7, 8, 9, 12, 20, and 22) were identified. Common trisomies were associated with higher maternal age (<i>p</i> = 0.003) and advanced maternal age rates (≥35 years) (<i>p</i> = 0.009). Fetal (61.1% vs. 1.7%) and confined placental mosaicism (22.2% vs. 0.3%) were significantly more frequent in RATs (<i>p</i> < 0.001, for all). Ultrasound anomalies were observed in 11 of 18 (61.1%) RATs, with trisomy 22 frequently involving craniofacial and cardiac abnormalities.</p><p><strong>Conclusion: </strong>RATs display diverse clinical outcomes. Mosaicism and ultrasound findings are critical for assessing prognosis and guiding clinical management.</p>\",\"PeriodicalId\":50452,\"journal\":{\"name\":\"Fetal and Pediatric Pathology\",\"volume\":\" \",\"pages\":\"357-371\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Fetal and Pediatric Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/15513815.2025.2520251\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/6/19 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2025.2520251","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/19 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study.
Objective: To evaluate the incidence, prenatal findings, and pregnancy outcomes of rare autosomal trisomies (RATs).
Methods: This retrospective cohort study included cases diagnosed via chorionic villus sampling, amniocentesis, or fetal cord blood sampling. Data collected included maternal demographics, gestational age, first-trimester screening results, ultrasound findings, genetic analyses, and pregnancy outcomes.
Results: A total of 354 cases of common trisomies and 18 cases of RATs (trisomies 2, 5, 7, 8, 9, 12, 20, and 22) were identified. Common trisomies were associated with higher maternal age (p = 0.003) and advanced maternal age rates (≥35 years) (p = 0.009). Fetal (61.1% vs. 1.7%) and confined placental mosaicism (22.2% vs. 0.3%) were significantly more frequent in RATs (p < 0.001, for all). Ultrasound anomalies were observed in 11 of 18 (61.1%) RATs, with trisomy 22 frequently involving craniofacial and cardiac abnormalities.
Conclusion: RATs display diverse clinical outcomes. Mosaicism and ultrasound findings are critical for assessing prognosis and guiding clinical management.
期刊介绍：
Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports.
The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
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