Abstract
PurposeTo report the unbalanced chromosome rearrangement rate and overall aneuploidy rate in day 5/6 embryos from a series of patients who underwent in vitro fertilization (IVF) with preimplantation genetic testing for structural rearrangements (PGT-SR) for the pericentric inversion 9 variant, inv(9)(p11q13) or inv(9)(p12q13), with concurrent 24 chromosome preimplantation genetic testing for aneuploidy (PGT-A).MethodsThis was a retrospective cohort analysis. IVF cycles and embryo biopsies were performed by referring clinics. Fifty-two trophectoderm biopsy samples from seven couples were sent to a single lab for PGT-SR for an inversion 9 variant with concurrent 24 chromosome PGT-A using single-nucleotide polymorphism (SNP) microarrays with bioinformatics.ResultsThe unbalanced rearrangement rate for this embryo cohort was 0/52 (0.0%); mean maternal age per embryo was 33.3 years (range 21–39 years). The overall euploid rate was 61.5% and aneuploidy rate was 38.5%.ConclusionsChromosome 9 pericentric inversions did not result in unbalanced structural rearrangements in day 5/6 embryo samples, supporting that this population variant is not associated with increased reproductive risks.
Highlights
Pericentric inversion 9 is a common chromosome variant with an incidence of approximately 1.6% in the general population [1]
Fifty-two TE biopsy samples were received for analysis from seven couples who each underwent a single in vitro fertilization (IVF) cycle with preimplantation genetic testing for structural rearrangements (PGT-SR) for a familial inversion 9 variant with concurrent 24 chromosome preimplantation genetic testing for aneuploidy (PGT-A)
This study reports the PGT-SR single-nucleotide polymorphism (SNP) microarray analysis results for 52 embryos with the indication of a parental pericentric inversion 9 variant
Summary
Pericentric inversion 9 is a common chromosome variant with an incidence of approximately 1.6% in the general population [1]. The resulting gametes either have a duplication involving the distal segment of the short arm (p-arm) of the Natera, Inc., San Carlos, CA, USA chromosome and a deletion of the distal segment of the long arm (q-arm) of the chromosome, or vice versa [2]. These unbalanced chromosomes may result in non-viable embryos, early miscarriages, or livebirths with multiple anomalies. The risk for a pericentric inversion to result in a child with an unbalanced chromosomal rearrangement ranges from 1–10% [2]
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