非侵入性产前外显子组测序诊断效用受测序深度和胎儿分数的限制。
Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.
机构信息
Department of Genetics, School of Medicine, UNC Chapel Hill, Chapel Hill, NC, USA.
Renaissance Computing Institute, Chapel Hill, NC, USA.
出版信息
Prenat Diagn. 2022 May;42(5):567-573. doi: 10.1002/pd.6009. Epub 2021 Jul 21.
OBJECTIVE
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.
METHODS
As a pilot study, we performed exome sequencing on the cell-free DNA from three mothers with singleton pregnancies to assess the viability of broad sequencing modalities in a noninvasive prenatal setting.
RESULTS
We found poor resolution of maternal and fetal genotypes due to both sampling and technical issues.
CONCLUSION
We find broad sequencing modalities inefficient for noninvasive prenatal applications. Alternatively, we suggest a more targeted path forward for noninvasive prenatal genotyping.
目的
游离 DNA 测序现在可以在产前检测到大型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能够从产前遗传学开始，最终改善罕见遗传疾病的管理。
方法
作为一项试点研究，我们对三名怀有单胎妊娠的母亲的游离 DNA 进行了外显子组测序，以评估广泛的测序模式在非侵入性产前环境中的可行性。
结果
我们发现由于采样和技术问题，母体和胎儿基因型的分辨率较差。
结论
我们发现广泛的测序模式对于非侵入性产前应用效率低下。相反，我们建议为非侵入性产前基因分型选择一条更有针对性的道路。
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