Elective Termination of Pregnancies Due to Fetal Congenital Anomalies: Utility of Various Investigating Modalities for Etiological Diagnosis of Congenital Anomalies.

IF 0.6 4区医学 Q4 PATHOLOGY

Fetal and Pediatric Pathology Pub Date : 2025-09-01 Epub Date: 2025-09-11 DOI:10.1080/15513815.2025.2550978

Roshan Daniel, Inusha Panigrahi, Priyanka Srivastava, Snigdha Kumari, Neelam Agarwal, Bharti Sharma, Nandita Kakkar, Kushaljit Singh Sodhi, Pratibha Bawa, Anu Kumari, Chitra Bhardwaj, Shifali Gupta, Parminder Kaur, Anupriya Kaur

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引用次数: 0

Abstract

Introduction: Etiological diagnosis of congenital anomalies greatly influences further reproductive genetic counseling. We herein report our experience of using various modalities for identification of the same. Materials and Methods: Pregnancies undergoing elective termination due to fetal congenital anomaly(ies) detected on antenatal ultrasonography were enrolled. Fetal autopsy, radiological studies and histopathology were done in all cases. Chromosomal Microarray (CMA) and Exome sequencing (ES) was done in selected cases. Results: One hundred seventy-four fetuses were enrolled. In 19.4% of cases a change in diagnosis/recurrence risk was observed based on a finding in autopsy. Utility of radiology and histopathology was observed in 5.7% and 13.4% of a selected subgroup of the cohort respectively. 39 cases (22%) were taken up for genetic testing. In this selected cohort overall positivity rate of genetic testing was 43.5% (28% and 71% for CMA and ES respectively). Conclusion: A phenotype-driven and systematic approach has the highest yield in detecting causes of fetal congenital anomalies.

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胎儿先天性畸形所致的选择性终止妊娠：先天性畸形病因学诊断的各种调查模式的应用。

导言：先天性异常的病因诊断对进一步的生殖遗传咨询影响很大。我们在此报告我们使用各种方式来识别相同的经验。材料与方法：对在产前超声检查中发现胎儿先天性异常而择期终止妊娠的孕妇进行研究。所有病例均进行了胎儿尸检、放射学检查和组织病理学检查。选择病例进行染色体微阵列（CMA）和外显子组测序（ES）。结果：共纳入174例胎儿。在19.4%的病例中，根据尸检结果观察到诊断/复发风险的变化。在选定的队列亚组中，分别有5.7%和13.4%的患者使用放射学和组织病理学。39例（22%）接受基因检测。在这个选定的队列中，基因检测的总阳性率为43.5% （CMA和ES分别为28%和71%）。结论：表型驱动和系统的方法是检测胎儿先天性异常原因的最高收率。

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.