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Updated: Jul 8, 2025

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通过染色体微阵列分析,在7078例怀孕中发现了致病性复发拷贝数变异

Han Kang¹, Yifei Chen¹, Lingxi Wang¹

¹Prenatal Diagnosis Department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, P.R. China.

Journal of perinatal medicine

|December 11, 2023

概括

致病性复发拷贝数变异 (CNVs) 在超声异常的胎儿中最常见. 晚年母亲的年龄与这些遗传变异的发病率较低有关.

科学领域:

产前遗传学产前遗传学
医学诊断医学诊断医学诊断
人类遗传学人类遗传学

背景情况:

副本数变异 (CNVs) 是遗传性疾病的一个重要原因.
经常由细分重复引起的重复性CNV与各种先天性异常有关.
在产前诊断中,了解致病性复发性冠状病毒的发病率和频谱至关重要.

研究的目的:

为了确定在不同胎儿转诊指标中致病性复发性CNV的频率.
为了将特定的CNV与它们观察到的子宫内表型特征相关联.
为了比较产前的CNV形状与已知的产后发现.

主要方法:

对7078个羊水样本进行了染色体微阵列分析 (CMA).
进一步分析了具有致病性复发性CNV的样本.
使用统计分析来比较不同母亲年龄组的发病率.

主要成果:

在胎儿超声波异常 (FUA) 组中,致病性复发性CNV的最高发病率为2.25%.
高龄的母亲 (≥35岁) 与年轻的母亲 (p<0.05) 相比,病原性复发性冠状病毒的发病率较低.
发现的常见CNV包括22q11.2 (微删除/重复),1q21.1 (微删除/重复) 和16p13.11 (微删除/重复).

结论:

病原性复发性NVs在胎儿超声波异常的胎儿中更频繁地检测到.
高龄孕妇的孕妇表现出病原性复发性CNVs的发病率降低.
在产前和产后诊断中,病原性复发性冠状病毒的谱系不同,特别是22q11.2,1q21.1,15q13.3和15q11.2区域.

关键词:

染色体微阵列分析分析不完全的穿透透度不完整的穿透度在产前诊断产前诊断经常复制的副本编号变体.

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