Genetic Investigation of Fetuses With Isolated Unilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2025-08-23 DOI:10.1002/pd.6877

Yong-Ling Zhang, Qiu-Xia Yu, Zhi-Qing Xiao, Si-Yun Li, Dong-Zhi Li

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引用次数: 0

Abstract

Objective: The objective of this paper is to explore genetic syndromes in fetuses with isolated unilateral renal agenesis (URA).

Methods: This was a retrospective study of 121 cases with isolated URA diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis for copy number variant (CNV) detection by chromosomal microarray analysis (CMA). For those with a negative CNV, exome sequencing (ES) is an option. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular sequencing results, and pregnancy outcomes.

Results: In total, 121 cases underwent CMA testing, which identified one case of trisomy X and two instances of pathogenic deletional CNVs, and specifically one deletion at 7q11.23 and another at 22q11.21. Among the cases that yielded negative results from CMA, 40 proceeded to trio ES. Notably, only one disease-causing variant, c.2437 G > T (p.Glu813Ter) in the CHD8 gene, was detected in a single case.

Conclusion: The diagnostic yield of 2.48% for CNVs warrants the use of CMA during pregnancies complicated by URA. Monogenic conditions appear to be rarely involved in the pathology of isolated fetal URA.

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孕中期超声鉴定的孤立单侧肾脏发育不全胎儿的遗传调查：单个转诊中心经验。

目的：探讨孤立性单侧肾发育不全（URA）胎儿的遗传综合征。方法：对121例妊娠中期解剖超声诊断的孤立性URA进行回顾性分析。所有病例均行有创产前诊断，通过染色体微阵列分析（CMA）检测拷贝数变异（CNV）。对于那些CNV为负的人，外显子组测序（ES）是一种选择。收集并审查这些病例的临床和实验室数据，包括产妇人口统计学、产前超声检查结果、分子测序结果和妊娠结局。结果：共有121例患者进行了CMA检测，其中1例为X三体，2例为致病性缺失cnv，其中7q11.23和22q11.21位点各有1例缺失。在CMA阴性的病例中，有40例进行了三组ES。值得注意的是，只有一种致病变异，c.2437在单个病例中检测到CHD8基因中的G > T （p.Glu813Ter）。结论：CMA对妊娠合并URA的CNVs的诊断率为2.48%。单基因条件似乎很少涉及离体胎儿URA的病理。

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