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[有两种软标记的怀孕中临床显著副本数变异的风险]

Amihood Singer¹, Julia Grinshpun-Cohen¹, Lena Sagi-Dain²

¹Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.

|June 17, 2024

概括

怀孕期间有两个软超声波标记物的存在不会显著增加临床上显著的副本数变异 (CNVs) 的风险. 这一发现表明,目前推对两个软标记物的侵入性测试的政策可能需要重新评估.

科学领域:

在产前诊断和遗传查.
胎儿超声波和超声波标记器
基因组复制数变异分析的基因组复制数变异分析.

背景情况:

软的超声波标记在150分之一的分娩中被发现,并略微增加了三综合症21和18的风险.
孤立的软标记物通常依赖于生物化学查进行侵入性测试决策.
两个软标记通常导致遗传咨询和资助的侵入性测试.

研究的目的:

用两个软超声波标记物识别的怀孕中确定临床显著拷贝数变异 (CNV) 的风险.

主要方法:

一项回顾性队列研究分析了2013-2021年两种软标记妊娠的产前微阵列测试.
软标记包括:回声性心内焦点,胆脉囊,单一动脉和轻微的皮叶.
结果与对照组进行了比较,对照组为7235名怀孕女性,超声波正常.

主要成果:

在150例怀孕中,两种软标记在150例怀孕中确定了两种 (1.3%) 临床显著的CNV.
这一比率与正常超声波妊娠中观察到的基线风险没有显著差异 (相对风险:1.11).

结论:

在怀孕有两个软标记的怀孕中,异常微阵列发现的风险与正常超声波的怀孕相比没有显著增加.
这些发现挑战了目前的国家政策,该政策建议使用两种软标记对怀孕进行遗传咨询和侵入性测试.
结果可以帮助遗传咨询和知情决策在类似的国际背景下.

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