与胎儿生长受限相关的遗传病因学

Dayuan Shi, Luyao Cai, Luming Sun
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摘要

摘要胎儿生长受限(FGR)与多种不良围产期结局有关,如宫内死亡风险增加、新生儿发病率和死亡率以及长期不良结局。遗传病因对宫内生长受限的胎儿至关重要,包括染色体异常、拷贝数变异、单基因疾病、单亲畸形、表观遗传变化和局限性胎盘嵌合体。本文旨在概述与FGR相关的遗传缺陷,并强调产前基因咨询和检测对FGR精确诊断和管理的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetics Etiologies Associated with Fetal Growth Restriction
Abstract Fetal growth restriction (FGR) is associated with multiple adverse perinatal outcomes, such as increased risk of intrauterine death, neonatal morbidity and mortality, and long-term adverse outcomes. Genetic etiological factors are critical in fetuses with intrauterine growth restriction, including chromosomal abnormalities, copy number variants, single gene disorders, uniparental disomy, epigenetic changes, and confined placental mosaicism. This paper aims to provide an overview of genetic defects related to FGR and to highlight the importance of prenatal genetic counseling and testing for precise diagnosis and management of FGR.
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