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单基因非侵入性产前检测在一般人群环境中的自体衰退性疾病的性能

Julia Wynn¹, Jennifer Hoskovec¹, Rebecca D Carter¹

¹BillionToOne, Inc, Menlo Park, California, USA.

Prenatal diagnosis

|September 7, 2023

概括

使用反射对单基因非侵入性产前检测 (sgNIPT) 的载体查提供了一种高度准确的方法来识别患有遗传疾病风险的怀孕. 这种方法被推作为一线选择,特别是当一个合作伙伴.

科学领域:

生殖遗传学生殖遗传学
产前诊断在产前诊断
医学查医学查

背景情况:

自体逆行性疾病对怀孕构成风险.
传统的载体查需要伴侣样本,这限制了其实用性.
单基因非侵入性产前检测 (sgNIPT) 提供了一个替代方法.

研究的目的:

在一般孕妇人群中临床验证载体查与反射到sgNIPT.
评估这种方法的性能,以识别患有囊性纤维化,脊髓肌肉缩,阿尔法血症和β血红蛋白病变风险的怀孕.
将测试预测的胎儿风险与实际妊娠结果进行比较.

主要方法:

一项前性研究,涉及42,067名孕妇,接受了用反射SGNIPT进行载体查.
收集了528例怀孕结果数据.
新生儿/胎儿结局与 sgNIPT 预测风险的比较.

主要成果:

sgNIPT预测与实际结果之间的高度一致性.
sgNIPT测定显示出高灵敏度 (96.0%) 和特异性 (95.2%).
端到端的工作流显示了92.4%的灵敏度和99.9%的特异性,不受合作伙伴身份的影响.

结论:

用反射对 sgNIPT 的载体查是一般人群查的一种高度准确的方法.
工作流具有很高的负预测值 (99.8%),使其可靠.
推作为一线选择,特别是当没有合作伙伴样本时.

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