Summary
https://doi.org/10.1093/clinchem/hvac040
A 32-year-old primigravida female with a singleton pregnancy underwent routine ultrasound examination at 23 weeks gestation, revealing bilateral fetal renal pelvic dilation, but otherwise unremarkable fetal anatomy. The patient previously declined fetal aneuploidy screening; however, following the ultrasound results, the patient elected to pursue noninvasive prenatal testing (NIPT) via an internally developed and clinically validated, low-pass whole-genome sequencing (cWGS) assay. The data revealed multiple copy number variants including, but not limited to, partial gains of chromosomes 1p, 8q, 12p, 17p, and 19q, and partial loss of chromosomes 4 and 9. A second sample was requested to rule out a preanalytical or analytical laboratory error. Both samples exhibited the same chromosomal abnormalities.