Pericentric inversion (Inv) 9 variant—reproductive risk factor or benign finding?

Author:

Merrion KatrinaORCID,Maisenbacher Melissa

Abstract

Abstract Purpose To 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). Methods This 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. Results The 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%. Conclusions Chromosome 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.

Funder

Natera Inc

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Developmental Biology,Obstetrics and Gynaecology,Genetics,Reproductive Medicine,General Medicine

Reference24 articles.

1. Šípek A, Panczak A, Mihalová R, Hrčková L, Suttrová E, Sobotka V, et al. Pericentric inversion of human chromosome 9 epidemiology study in Czech males and females. Folia Biol (Praha). 2015;61(4):140–6.

2. Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counseling. 3rd ed. Oxford: University Press; 2004. pp. 142–62, 233-246.

3. Anton E, Blanco J, Egozcue J, Vidal F. Sperm studies in heterozygote inversion carriers: A review. Cytogenet Genome Res. 2005;111:297–304.

4. Harper PS. Practical genetic counselling. 6th ed. London: Arnold; 2004. p. 73.

5. Verma RS. Heterochromatin: molecular and structural aspects. Cambridge: Cambridge University Press; 1988. p. 100.

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