Whole-genome sequencing of genetically undiagnosed euploid fetuses with increased nuchal translucency: abridged secondary publication
RKW Choy1, YE Cao1, FM Lo2, SW Cheung3, Y Yang3, TY Leung1
1 Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong
2 Department of Health
3 Baylor College of Medicine, USA
1. We studied the genome-wide spectrum and frequency of genetic variants and spatial genomic organisation during early fetal development. We also investigated the variability of genomic variants associated with the increased nuchal translucency–related birth defects.
2. We implemented whole-genome sequencing to screen the candidate pathogenic variants that helped explain the congenital structural abnormalities for 15 trios in Hong Kong.
3. Compared with chromosomal microarray analysis and karyotyping, whole-genome sequencing provided an additional 20% (3/15) diagnostic yield.
4. Applying whole-genome sequencing in fetuses with increased nuchal translucency can comprehensively detect and delineate the various genomic variants that are causative to the diseases.