单基因疾病的分子产前诊断：迈向非侵入性方法

摘要(中文译文)

在这篇叙述性综述中，我们概述了单基因疾病产前诊断的历史进展和现代进展。产前诊断最初依赖于侵入性采样操作，此后通过整合高通量分子技术（如二代测序）而不断发展。这些技术如今能够全面检测全基因组范围内的致病变异。无细胞胎儿DNA（cfDNA）在母体血浆中的发现是一个重大突破，其来源于胎盘。这一发现促成了无创产前检测（NIPT）的发展，目前已被广泛应用。然而，单基因疾病的非侵入性产前诊断（NIPD）发展较为缓慢，主要原因是需要高灵敏度的测序方法和复杂的统计分析来判断母源传播。目前，仅有少数国家在临床实践中实施了NIPD。现有技术和方法众多，可能使产前咨询中提供的信息变得复杂。然而，掌握围绕NIPD的知识和伦理问题，将确保为存在单基因疾病传播风险的妊娠提供最佳服务和更好的照护。

Abstract

In this narrative review, we outline the historical progression of, and modern advancements in, prenatal diagnosis for monogenic diseases. Initially dependent on invasive sampling procedures, prenatal diagnosis has evolved through the integration of high-throughput molecular techniques, such as next-generation sequencing. These techniques now allow for the comprehensive detection of pathogenic variants across the genome. A major breakthrough occurred with the discovery of cell-free fetal DNA (cfDNA) in maternal plasma, originating from the placenta. This discovery enabled the development of non-invasive prenatal testing (NIPT), which is now widely used. However, non-invasive prenatal diagnosis (NIPD) for monogenic diseases took longer to develop, mainly due to the need for highly sensitive sequencing methods and sophisticated statistical analysis to determine maternal transmission. Currently, only a few countries have implemented NIPD in clinical settings. The multitude of available technologies and protocols can complicate the information provided during antenatal consultations. However, mastery of the knowledge and ethical issues surrounding NIPD will ensure optimal service and better care for pregnancies at risk of monogenic disease transmission.

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