A Decade of Prenatal Genetic Diagnostics: Insights From 1949 Cases at a Medical Genetics Facility in South India.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2025-08-16 DOI:10.1002/pd.6869

Roopadarshini Balasubramanian, Prathyusha Koneru, Harika Patnaik Chinchilam, Angalena Ramachandran, Usha R Dutta, Rajitha Ponnala, Vasantha Rani Sarvade, Prajnya Ranganath, Javeria Nisar, Sahithi Rathod Ramavath, Jamal Mohamed Nurul Jain, Muthulakshmi Mayandi, Ashwin Dalal, Shagun Aggarwal

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引用次数: 0

Abstract

Objective: Our objective was to report on the performance of prenatal diagnostic procedures for genetic testing in a developing country.

Method: This retrospective study involved a review of medical records of women who underwent prenatal diagnostic procedures from 2014 to 2024 at a Medical Genetics facility in South India. Data on the type of procedure, indication for testing, types of tests, outcomes, and complications of procedures were recorded and analyzed using descriptive statistics.

Results: A total of 1949 procedures were performed; 1126 amniocentesis and 816 chorionic villus sampling. An increasing trend in the number of prenatal diagnostic procedures has been observed over the decade. The most common indication for testing was monogenic disorders (1191/1949; 61.1%), followed by chromosomal disorders (537/1949; 27.6%) and ultrasound abnormalities (199/1949; 10.2%). In case of ultrasound abnormalities, a higher yield of monogenic disorders (39/87; 44.8% by exome sequencing) was observed compared to chromosomal disorders (8/204; 3.9% by karyotype/chromosomal microarray). There were no procedure-related miscarriages reported in our cohort.

Conclusions: This study reiterates the safety of prenatal diagnostic procedures when performed by skilled personnel following standard protocols, even in low-resource settings. Monogenic disorders are the commonest test indication and the predominant cause of ultrasound abnormalities, reflecting the high burden of autosomal recessive disorders in our cohort.

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产前遗传诊断的十年：从1949年在印度南部的医学遗传学设施的案例的见解。

目的：我们的目的是报告在一个发展中国家进行基因检测的产前诊断程序的表现。方法：这项回顾性研究包括对2014年至2024年在南印度一家医学遗传学机构接受产前诊断程序的妇女的医疗记录进行审查。记录有关手术类型、检查指征、检查类型、结果和手术并发症的数据，并使用描述性统计进行分析。结果：共行手术1949例；1126羊膜穿刺术和816绒毛膜绒毛取样。在过去十年中，产前诊断程序的数量呈增加趋势。最常见的检测适应症是单基因疾病(1191/1949；61.1%)，其次是染色体疾病(537/1949；27.6%)和超声异常(1999 /1949；10.2%)。在超声异常的情况下，单基因疾病的发生率更高(39/87；44.8%（外显子组测序），与染色体疾病相比(8/204；3.9%（核型/染色体微阵列）。在我们的队列中没有手术相关流产的报告。结论：本研究重申，即使在低资源环境下，由熟练人员按照标准方案执行产前诊断程序也是安全的。单基因疾病是最常见的检查指征，也是超声异常的主要原因，反映了我们队列中常染色体隐性疾病的高负担。

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

Prenatal Diagnosis 医学-妇产科学

CiteScore

5.80

自引率

13.30%

发文量

204

审稿时长

2 months

期刊介绍： Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling