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在第一季度的超声波查中测量部半透明度的临床实用性,在第一层NIPT的环境中进行形查

Eline E R Lust¹, Kim Bronsgeest², Lidewij Henneman³

¹Department of Obstetrics and Gynecology, University Medical Center Utrecht, Utrecht, the Netherlands.

Prenatal diagnosis

|December 7, 2025

概括

在第一季度异常扫描 (FTAS) 中测量鼻透光度 (NT) 在产前查中提供了额外的临床价值,即使使用非侵入性产前检测 (NIPT). 这有助于识别NIPT以外的遗传异常.

科学领域:

产前诊断在产前诊断.
遗传学遗传学是一个
产科产科产科产科产科

背景情况:

一级非侵入性产前检测 (NIPT) 越来越常见.
与NIPT一起测量半透明度 (NT) 的作用需要进一步研究.

研究的目的:

为了确定在第一季度异常扫描 (FTAS) 期间NT测量的临床附加值,当NIPT已经可用时.
评估通过NT测量检测到的异常的类型和患病率,用于增加NT的怀孕.

主要方法:

一项全国范围的前性队列研究,涉及FTAS时NT≥3.5毫米的怀孕.
在八个高等医疗中心进行了详细的诊断扫描.
产前和产后发现被用来确定异常诊断的主要结果.

主要成果:

在129,704例怀孕中,有230例NT增加,其中33.9%被诊断出异常.
遗传异常包括体,单核酸变异 (SNVs) 和副本数变异 (CNVs),其中一些超出了NIPT的范围.
异常患病率与NT厚度相关.

结论:

在包括FTAS和NIPT在内的国家查计划中,NT测量具有显著的价值.
产前咨询应突出潜在的三症和FTAS发现的遗传异常,特别是如果NIPT被拒绝.

关键词:

没有积症.染色体疾病染色体疾病有先天性异常.早期诊断早期诊断早期诊断胎儿查胎儿查胎儿查非侵入性的产前检测.部半透明度测量测量在产前的超声波,产前的超声波.

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