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Updated: Sep 11, 2025

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评估胎儿染色体和单基因疾病的妊娠终止率

Madeline J Herman^1,2, Emily B Rosenfeld³, Nicole Kasatkin³

¹Ann B. Barshinger Cancer Institute, Penn Medicine Lancaster General Health, Lancaster, Pennsylvania, USA.

Journal of genetic counseling

|August 16, 2025

概括

胎儿诊断后的妊娠终止率取决于特定的遗传异常,三症18和三症21等疾病增加了终止几率. 父亲的种族和早期的诊断也影响了决策.

科学领域:

产周医学产周医学
医学遗传学医学遗传学
生殖健康生殖健康

背景情况:

产前诊断识别胎儿遗传异常,影响怀孕管理和决策.
了解影响终止妊娠的因素对于患者咨询和医疗保健政策至关重要.
之前的研究已经探讨了终止率,但对特定遗传诊断和人口影响的全面分析正在进行中.

研究的目的:

为了确定各种胎儿遗传诊断中的妊娠终止率.
确定影响终止妊娠的决定的人口和临床因素.
为改善遗传咨询和患者支持提供数据.

主要方法:

从2012年1月到2023年4月,对具有遗传异常的怀孕进行了回顾性图表审查.
纳入标准:已确认胎儿遗传诊断的怀孕.
多变量后勤回归分析,以评估诊断类型,父亲的种族/种族以及诊断时的妊娠年龄对终止率的影响.

主要成果:

在332名符合条件的患者中,总体妊娠终止率为61.5%.
与性染色体异常相比,三合一18型,三合一13型和三合一症的终止几率明显更高.
三重症21也具有更高的终止几率;可能的良性副本数变异 (CNVs) 的几率较低.
诊断时的黑人父亲种族/种族和早期妊娠年龄分别与较低和较高的终止几率有关.

结论:

妊娠终止率根据特定类型的胎儿遗传诊断有很大差异.
诊断时的父亲种族/种族和妊娠年龄是影响终止决定的重要因素.
这些发现突出了医疗,人口和时间因素在产前诊断后终止怀孕决定中的复杂相互作用.

关键词:

氨基缩症是什么意思胆膜取样本采集胆膜取样本采集染色体疾病染色体疾病胎儿遗传分析胎儿遗传分析遗传咨询遗传咨询遗传咨询产前诊断产前诊断产前诊断单基因疾病单基因疾病

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