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在产前队列中微头症的遗传和临床特征

Yi Zhang¹, Huibing Liu¹, Ailan Yin¹

¹Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, 1838 Guangzhou Avenue North, Guangzhou, 510515, China.

BMC pregnancy and childbirth

|December 16, 2025

概括

胎儿小头症是胎儿头部大小小的疾病,有多种不同的遗传原因. 综合基因检测有助于诊断这些多样化的病因,改善了受影响怀孕的产前护理.

科学领域:

遗传学是一个遗传学.
产前诊断在产前诊断
胎儿的发育胎儿的发育

背景情况:

胎儿小头症是一种罕见的疾病,与神经发育风险有关.
对于胎儿小头症,存在有限的综合基因分析.
了解遗传原因对于产前诊断和管理至关重要.

研究的目的:

总结临床特征,超声检查结果和产前诊断的小头症的遗传原因.
评估多种遗传检测方法的实用性.
为了将遗传发现与小头严重程度和怀孕结果相关联.

主要方法:

对197名患有小头症的胎儿进行了回顾性分析,这些胎儿正在接受入侵性产前诊断.
使用了型定型,染色体微阵列分析 (CMA),复制数变异测序 (CNV-seq) 和整体外基因组测序 (WES).
研究的染色体和单基因异常,包括单基因变异的三WES.

主要成果:

48.7%的孤立和51.3%的非孤立的小头病例被确定.
在非隔离的小头症中,染色体异常和致病性CNV的比率更高.
三方WES确定了单基因变异,例如POGZ基因.
在33.1%的病例中,发生了不良妊娠结果.

结论:

胎儿小头症是一种遗传和表型异质的疾病.
综合性基因检测对于诊断各种病因是必不可少的.
综合遗传方法可以改善胎儿小头症的产前诊断.

关键词:

染色体微阵列分析复制号码变体序列的序列化方式胎儿微头症是什么意思型化 (Karyotyping) 是一种方法.产前诊断在产前诊断.整个外基因组的测序.

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