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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Rates of Unbalanced Chromosome Rearrangements Asso ...
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.
Asset Subtitle
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
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