期刊
NPJ GENOMIC MEDICINE
卷 7, 期 1, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/s41525-022-00347-4
关键词
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资金
- Commissioned Paediatric Research at Hong Kong under the Health and Medical Research Fund (HMRF) of the Hong Kong Food and Health Bureau Children Hospital [PR-HKU-4]
- Society for the Relief of Disabled Children
- Edward and Yolanda Wong Fund
- German Bundesministerium fuer Bildung und Forschung (BMBF) [01KU2016A]
This study demonstrates the feasibility and benefits of using amniotic fluid cells for RNA sequencing in prenatal diagnosis, providing functional support for interpreting variants of uncertain significance and offering a non-invasive option for postnatal patients.
RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants of uncertain significance. However, the use of amniotic fluid (AF) cells for RNA-seq has not yet been explored. Here, we examined the expression of clinically relevant genes in AF cells (n = 48) compared with whole blood and fibroblasts. The number of well-expressed genes in AF cells was comparable to that in fibroblasts and much higher than that in blood across different disease categories. We found AF cells RNA-seq feasible and beneficial in prenatal diagnosis (n = 4) as transcriptomic data elucidated the molecular consequence leading to the pathogenicity upgrade of variants in CHD7 and COL1A2 and revising the in silico prediction of a variant in MYRF. AF cells RNA-seq could become a reasonable choice for postnatal patients with advantages over fibroblasts and blood as it prevents invasive procedures.
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