2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Rates of Unbalanced Chromosome Rearrangements Associated with Pericentric and Paracentric Inversions: Analysis of Molecular Chromosome Results in Blastocyst-Stage Embryos Samples

Rates of Unbalanced Chromosome Rearrangements Associated with Pericentric and Paracentric Inversions: Analysis of Molecular Chromosome Results in Blastocyst-Stage Embryos Samples

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This document summarizes a study on the rates of unbalanced chromosome rearrangements associated with pericentric and paracentric inversions in blastocyst-stage embryos. The study aimed to evaluate the outcomes of preimplantation genetic testing (PGT) for structural rearrangements in patients with known inversions who underwent in vitro fertilization (IVF) with PGT. <br /><br />The study included 26 patients with pericentric inversions and 9 patients with paracentric inversions who underwent 42 IVF cycles. Trophectoderm biopsy samples were tested using SNP chromosomal microarray analysis. <br /><br />For pericentric inversions, the rate of individuals with unbalanced rearrangements correlated with the size of the inverted segment. For segments <30% of the chromosome, 4.8% of biopsy samples had an inherited del/dup. For segments between 30% and 50%, 3.2% of biopsy samples had an inherited del/dup. For segments >50%, 21.1% of biopsy samples had an inherited del/dup. <br /><br />For paracentric inversions, 6% of biopsy samples had monosomy and 2% had an inherited del/dup.<br /><br />The study showed that the risk of unbalanced rearrangements increased with the size of the inverted segment for pericentric inversions. However, even segments <30% had a small risk, suggesting that the parental origin of the inversion may impact recurrence risks. Paracentric inversions had a low but not inconsequential risk of unbalanced rearrangements.<br /><br />These findings can help with genetic counseling for PGT for familial inversions. Furthermore, the study provides insights into the reproductive risks associated with different types and sizes of inversions, which can aid in clinical decision-making for patients undergoing IVF with PGT.

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Presenting Author - Katrina Merrion, MS; Co-Author - Jessica Adsit, MS, CGC; Co-Author - Katherine L. Howard, LGC, CGC, MSGC; Co-Author - Carrie Chou, MS; Co-Author - Jeffrey Meltzer, MD, MBA, FACOG; Co-Author - Christie Buchovecky, PhD; Co-Author - Karine Hovanes, PhD, FACMG; Submitter Only - J. Bryce Ortiz, PhD;

Meta Tag

Bioinformatics

Chromosomal Abnormalities

Chromosome Structure/Function

Clinical Applications of Molecular Cytogenetics

Counseling

Genetic Testing

Microarray

Molecular Cytogenetics

Preimplantation Diagnosis

Co-Author Jessica Adsit, MS, CGC

Co-Author Katherine L. Howard, LGC, CGC, MSGC

Co-Author Carrie Chou, MS

Co-Author Jeffrey Meltzer, MD, MBA, FACOG

Co-Author Christie Buchovecky, PhD

Co-Author Karine Hovanes, PhD, FACMG

Presenting Author Katrina Merrion, MS

Submitter Only J. Bryce Ortiz, PhD

Keywords

rates

unbalanced chromosome rearrangements

pericentric inversions

paracentric inversions

blastocyst-stage embryos

preimplantation genetic testing

structural rearrangements

in vitro fertilization

trophectoderm biopsy samples

SNP chromosomal microarray analysis