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对于与晚年父亲年龄相关的单基因疾病的非侵入性产前查的吸收率

Kylie Katz¹, Justin S Brandt², Gary Heiman³

¹Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.

Journal of genetic counseling

|April 5, 2025

概括

伴侣在父亲年龄较高的孕妇更有可能选择针对新一代单基因疾病 (NIPS-SGD) 的非侵入性产前查,如果他们已经使用了其他产前查.

科学领域:

遗传学遗传学是一个
产前诊断在产前诊断
生殖健康生殖健康

背景情况:

先进的父亲年龄 (APA) 增加了新基因突变的风险.
针对新的单基因疾病 (NIPS-SGD) 的非侵入性产前查为风险评估提供了新的选择.
了解影响NIPS-SGD吸收的因素对于遗传咨询和生殖决策至关重要.

研究的目的:

量化NIPS-SGD在晚年孕妇怀孕中的吸收率.
为了确定与更高的NIPS-SGD吸收相关的个别参数.
为NIPS-SGD的采用开发一个预测模型.

主要方法:

针对APA (≥45岁) 提供NIPS-SGD的孕妇的横截面研究.
纳入标准:非异常,单独怀孕,没有捐赠性子细胞怀孕.
多变量后勤回归分析以确定NIPS-SGD吸收的预测因素.

主要成果:

总体而言,NIPS-SGD的采用率为38% (70/186名受试者).
更高的吸收率与先前使用NIPS用于形积分,载体查或侵入性诊断测试有关.
与更高的吸收相关的其他因素包括生殖伴侣,医疗补助保险和场外遗传咨询.

结论:

寻求信息并使用其他产前查的孕妇更有可能选择NIPS-SGD.
预测建模实现了0.79的AUC,表明NIPS-SGD吸收的良好歧视.
这些发现可以为晚期父亲年龄怀孕的遗传咨询策略提供信息.

关键词:

晚年父亲的年龄.遗传咨询遗传咨询遗传咨询基因检测基因检测是指基因检测.针对单基因疾病的非侵入性产前查.在产前诊断产前诊断

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