With the widespread clinical adoption of noninvasive screening for fetal chromosomal aneuploidies based on cell-free DNA analysis from maternal plasma, more researchers are turning their attention to noninvasive prenatal assessment for single-gene disorders. The development of a spectrum of approaches to analyze cell-free DNA in maternal circulation, including relative mutation dosage, relative haplotype dosage, and size-based methods, has expanded the scope of noninvasive prenatal testing to sex-linked and autosomal recessive disorders. Cell-free fetal DNA analysis for several of the more prevalent single-gene disorders has recently been introduced into clinical service. This article reviews the analytical approaches currently available and discusses the extent of the clinical implementation of noninvasive prenatal testing for single-gene disorders.

中文翻译：

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无创产前诊断的下一个前沿：用于单基因疾病评估的无细胞胎儿 DNA 分析

随着基于母体血浆无细胞DNA分析的胎儿染色体非整倍体无创筛查在临床上的广泛采用，越来越多的研究人员将注意力转向单基因疾病的无创产前评估。一系列分析母体循环中游离DNA的方法的发展，包括相对突变剂量、相对单倍型剂量和基于大小的方法，将无创产前检测的范围扩大到性连锁和常染色体隐性遗传疾病。针对几种更常见的单基因疾病的无细胞胎儿 DNA 分析最近已被引入临床服务。本文回顾了目前可用的分析方法，并讨论了单基因疾病无创产前检测的临床实施程度。