Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study.

IF 0.7 4区医学 Q4 PATHOLOGY

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-06-19 DOI:10.1080/15513815.2025.2520251

Sevim Tuncer Can, Hakan Golbasi, Burak Bayraktar, Berk Ozyilmaz, Ibrahim Omeroglu, Raziye Torun, Ceren Saglam, Ilayda Gercik, Orhan Nural, Hale Ankara Aktas, Atalay Ekin

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引用次数: 0

Abstract

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.

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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。

目的：评价罕见常染色体三体（RATs）的发病率、产前表现和妊娠结局。方法：本回顾性队列研究包括通过绒毛膜绒毛取样、羊膜穿刺术或胎儿脐带血取样诊断的病例。收集的数据包括产妇人口统计、胎龄、妊娠早期筛查结果、超声检查结果、遗传分析和妊娠结局。结果：共检出常见三体354例，rat（2、5、7、8、9、12、20、22三体）18例。常见三体与产妇年龄较高（p = 0.003）和高龄（≥35岁）相关（p = 0.009）。大鼠中胎儿（61.1%对1.7%）和受限胎盘嵌合体（22.2%对0.3%）的发生率明显更高(p结论：大鼠具有不同的临床结局。嵌合现象和超声检查对评估预后和指导临床治疗至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Fetal and Pediatric Pathology 医学-病理学

CiteScore

3.00

自引率

0.00%

发文量

审稿时长

6-12 weeks

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.