中国胎儿 22q11.2 微重复的产前诊断和遗传学研究:31例系列病例及文献综述。

IF 1.5 4区 医学 Q4 GENETICS & HEREDITY Molecular Genetics & Genomic Medicine Pub Date : 2024-07-01 DOI:10.1002/mgg3.2498
Xiali Jiang, Bin Liang, Shuqiong He, Xiaoqing Wu, Wantong Zhao, Huili Xue, Yan Wang, Na Lin, Hailong Huang, Liangpu Xu
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引用次数: 0

摘要

背景:22q11.2微重复综合征患者表现出高度的表型异质性和不完全渗透性,由于表型变异,产前诊断具有挑战性。本报告旨在提高产前诊断从业人员对该变异复杂性的认识,为产前遗传咨询提供依据:方法:考虑了2017年6月至2023年6月期间31例经染色体芯片确认的22q11.2微重复胎儿的家族和临床数据:受影响胎儿的主要产前超声特征包括不同的心脏和心血管异常、颈项透明带增加(≥3 mm)、肾脏异常和多羊水。超过一半的胎儿没有宫内表现,因此产前诊断指标主要是高龄产妇或高风险唐氏综合征筛查。大多数胎儿的微重复位于 22q11.2 近端或中心区域,只有 3 例胎儿的微重复位于远端。在考虑的胎儿父母中,87%(27/31)继续妊娠。在随访过程中,19 例仍无临床症状:结论:胎儿的非特异性 22q11.2 微重复特征及其轻微的产后疾病表现突显了谨慎对待产前诊断和妊娠决策的必要性。临床上应加强为父母提供专门的遗传咨询、长期随访和胎儿风险信息。
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Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review.

Background: Patients with 22q11.2 microduplication syndrome exhibit a high degree of phenotypic heterogeneity and incomplete penetrance, making prenatal diagnosis challenging due to phenotypic variability. This report aims to raise awareness among prenatal diagnostic practitioners regarding the variant's complexity, providing a basis for prenatal genetic counseling.

Methods: Family and clinical data of 31 fetuses with 22q11.2 microduplications confirmed by chromosomal microarray between June 2017 and June 2023 were considered.

Results: Primary prenatal ultrasound features of affected fetuses include variable cardiac and cardiovascular anomalies, increased nuchal translucency (≥3 mm), renal abnormalities, and polyhydramnios. More than half of fetuses considered showed no intrauterine manifestations; therefore, prenatal diagnostic indicators were primarily advanced maternal age or high-risk Down syndrome screening. Most fetuses had microduplications in proximal or central 22q11.2 regions, with only three cases with distal microduplications. Among parents of fetuses considered, 87% (27/31) continued the pregnancy. During follow-up, 19 cases remained clinically asymptomatic.

Conclusion: Nonspecific 22q11.2 microduplication features in fetuses and its mild postnatal disease presentation highlight the need to cautiously approach prenatal diagnosis and pregnancy decision-making. Increased clinical efforts should be made regarding providing parents with specialized genetic counseling, long-term follow-up, and fetal risk information.

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来源期刊
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
4.20
自引率
0.00%
发文量
241
审稿时长
14 weeks
期刊介绍: Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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