Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
Abstract Background Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses. Methods We recruited 144...
Príomhchruthaitheoirí: | , , , , , , , , , , |
---|---|
Formáid: | Alt |
Teanga: | English |
Foilsithe / Cruthaithe: |
BMC
2023-10-01
|
Sraith: | BMC Medical Genomics |
Ábhair: | |
Rochtain ar líne: | https://doi.org/10.1186/s12920-023-01697-3 |