Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts
Objective: To add evidence that massive parallel sequencing (MPS) is a valuable substitute for array comparative genomic hybridization (arrayCGH) with a resolution that is more appropriate for preimplantation genetic diagnosis (PGD) in translocation carriers.
Design: Study of diagnostic accuracy.
Setting: University hospital.
Patient(s): Fifteen patients with a balanced structural rearrangement were included in the study: eight reciprocal translocations, four Robertsonian translocations, two inversions, and one insertional translocation.