Sequencing cell-free DNA now allows detection of large chromosomal abnormalities and dominant Mendelian disorders in the prenatal period. Improving upon these methods would allow newborn screening programs to begin with prenatal genetics, ultimately improving the management of rare genetic disorders.

中文翻译：

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受测序深度和胎儿分数限制的无创产前外显子组测序诊断效用

现在，对无细胞 DNA 进行测序可以在产前检测大染色体异常和显性孟德尔疾病。改进这些方法将使新生儿筛查计划从产前遗传学开始，最终改善罕见遗传疾病的管理。