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

Autor: Melissa K. Maisenbacher, Katrina Merrion
Rok vydání: 2019
Předmět:
Adult
Pregnancy Rate
medicine.medical_treatment
Population
Aneuploidy
Chromosome 9
Fertilization in Vitro
Chromosomal rearrangement
Biology
Translocation
Genetic
Andrology
03 medical and health sciences
0302 clinical medicine
Pregnancy
Risk Factors
Genetics
medicine
Humans
Genetic Testing
education
Preimplantation Diagnosis
Genetics (clinical)
Genetic testing
Chromosomal inversion
Pericentric inversion of chromosome 9
Comparative Genomic Hybridization
education.field_of_study
030219 obstetrics & reproductive medicine
In vitro fertilisation
medicine.diagnostic_test
Preimplantation genetic testing for structural rearrangements (PGT-SR)
Obstetrics and Gynecology
Embryo
General Medicine
Embryo Transfer
medicine.disease
In vitro fertilization (IVF)
Blastocyst
Reproductive Medicine
Structural rearrangement
030220 oncology & carcinogenesis
embryonic structures
Chromosome Inversion
Female
Chromosomes
Human
Pair 9
Maternal Age
Developmental Biology
Zdroj: Journal of Assisted Reproduction and Genetics
ISSN: 1573-7330
1058-0468
DOI: 10.1007/s10815-019-01601-y
Popis: 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.
Databáze: OpenAIRE
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