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胎儿染色体异常与增加的阴透光:越南回顾性研究

Tuan M Vo¹, Ngoc T Hoang¹, Toan T Nguyen¹

¹Obstetrics and Gynecology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VNM.

|November 25, 2024

概括

欧体胎儿的半透明度 (NT) 增加可能表明有病原性复制数变异 (CNVs). 基因检测,如染色体微阵列分析 (CMA) 或CNV-seq,对于准确的产前诊断和咨询至关重要.

科学领域:

产前遗传学产前遗传学
胎儿医学胎儿医学
基因组诊断基因组诊断基因组诊断

背景情况:

增加的鼻透光 (NT) 历史上一直被选为形.
最近的研究突出显示,欧体胎儿的遗传障碍与加厚的NT.
在这些情况下,复制号变体 (CNV) 越来越多地被识别.

研究的目的:

为了确定病原性CNVs (pCNVs) 的频率,以增加NT.
在这个人群中确定与pCNVs相关的因素.
评估CMA和CNV-seq对产前诊断的有用性.

主要方法:

对491名NT≥3mm的胎儿进行了回顾性研究.
基因检测是使用胆毛样本取样或羊水切片检测进行的.
通过染色体微阵列 (CMA) 或CNV-seq.分析.

主要成果:

在397个幼胎中,9.1%的胎儿患有pCNVs.
亚微观pCNV占病例的6.0%.
在其他结构异常的胎儿中,pCNV的发病率更高 (OR 3.75).
母亲年龄和NT厚度与pCNV风险没有显著关联.

结论:

CMA和CNV-seq有效地检测pCNVs在euploid胎儿增加NT.
这些基因测试为产前咨询提供了宝贵的信息.
识别pCNV可以提高诊断产量,而不仅仅是积体查.

关键词:

增加上半透明度 (nt)活着的胎儿活着的胎儿微阵列是微阵列中的一个.多种变体的数量 (cnv)怀孕咨询怀孕咨询怀孕咨询

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