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产前外体序列测序是一种强大的工具,可以改善与遗传疾病相关的产前特征的描述

Christel Thauvin-Robinet^1,2,3,4, Aurore Garde^1,2, Julian Delanne^1,2

¹Centre de Génétique et Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est", CHU Dijon Bourgogne, Dijon, France.

Prenatal diagnosis

|August 13, 2024

概括

产前外体序列测定 (pES) 有助于诊断有缺陷的胎儿. 由于产前数据有限,解释遗传变异具有挑战性,但标准化特征描述可以提高准确性.

科学领域:

遗传学遗传学是一个
产前诊断在产前诊断
医学基因组学是医学基因组学.

背景情况:

产前外体序列测序 (pES) 在临床环境中越来越多地被使用.
在约30%的结构缺陷和正常染色体微阵列分析 (CMA) 的胎儿中,pES可以确定额外的诊断.
由于对许多遗传疾病的产前数据有限,解释pES结果具有挑战性.

研究的目的:

评估通过胎儿的三元pES识别的遗传变异的解释.
为了分类产前表型和评估基因型-表型关联.
确定挑战,并提出改善pES数据解释的解决方案.

主要方法:

一项辅助研究分析了由trio-pES识别的具有致病性/可能致病性变异的胎儿.
产前表型被分为典型的,不常见的或未报告的.
现象类型与文献和公共数据库 (ClinVar,HGMD,OMIM, Decipher) 进行了比较.

主要成果:

在67.9% (38/56) 的胎儿中观察到典型的产前表型.
具有挑战性的基因型-表型关联源于不常见,罕见或未报告的产前特征.
该研究报告了LINS1和PGM1变体的第一个产前特征,并确定了三例双重诊断.

结论:

标准化产前特征的描述对于提高pES数据解释至关重要.
实施纵向产前随访对于更好地了解遗传疾病至关重要.
大规模收集产前特征将大大提高pES解释的准确性.

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