2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-PGT-M for Hereditary Cancer Conditions: A 12-year Testing Experience at a Single Reference Laboratory

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This study focused on the utilization of preimplantation genetic testing (PGT) for hereditary cancer conditions over a 12-year period at a single reference laboratory. The study included 501 patients who underwent PGT-M for a hereditary cancer gene, with an average maternal age of 34 years. The majority of cases (77%) had at least one euploid and unaffected embryo. A total of 791 cases were tested, resulting in 28% of embryos being euploid/unaffected.<br /><br />The study found that 9% of the single gene conditions tested involved hereditary cancer genes with autosomal dominant inheritance. The most commonly tested genes in both time periods were BRCA1 and BRCA2. While genes with mild cancer risk were not tested in the earlier period, 14 patients had PGT-M for these genes in the later period. PGT-M was performed for maternal gene variations in 64% of patients and for paternal gene variations in 36% of patients.<br /><br />Medical and family history information was obtained for 88% of patients, with 86% having a family history of cancer and 31% having a personal history of cancer. There was no significant difference in these distributions when comparing the two time periods.<br /><br />Thirty-six patients who underwent fertility preservation and were referred for IVF with PGT-M had at least one unaffected and euploid embryo on their initial cycle. Overall, the study concludes that the application of PGT-M for hereditary cancer genes has increased over the past decade and most patients will have at least one unaffected and euploid embryo for transfer. The data can be helpful for counseling patients on PGT-M for hereditary cancer conditions. The study was conducted by researchers from Natera, Inc., who are employees of the company.

Asset Subtitle

Submitter Only - Urmi Sengupta, PhD; Presenting Author - Jeannie Klavanian, MS; Co-Author - Kenzie Wood, BS; Co-Author - Maija Sands, BS; Co-Author - Melda Balcioglu, BS; Co-Author - Kendra Vilfort, BS; Co-Author - Jessica Adsit, MS, CGC; Co-Author - Christie Buchovecky, PhD; Co-Author - Karine Hovanes, PhD, FACMG; Co-Author - Jeffrey Meltzer, MD, MBA, FACOG; Co-Author - Katrina Merrion, MS; Co-Author - Nina Wemmer, MS, CGC;

Meta Tag

Bioinformatics

Cancer Syndromes

Chromosomal Abnormalities

Counseling

Genetic Testing

Inheritance Patterns

Microarray

Molecular Cytogenetics

Preimplantation Diagnosis

Co-Author Kenzie Wood, BS

Co-Author Maija Sands, BS

Co-Author Melda Balcioglu, BS

Co-Author Kendra Vilfort, BS

Co-Author Jessica Adsit, MS, CGC

Co-Author Christie Buchovecky, PhD

Co-Author Karine Hovanes, PhD, FACMG

Co-Author Jeffrey Meltzer, MD, MBA, FACOG

Co-Author Katrina Merrion, MS

Co-Author Nina Wemmer, MS, CGC

Presenting Author Jeannie Klavanian, MS

Submitter Only Urmi Sengupta, PhD

Keywords

preimplantation genetic testing

PGT

hereditary cancer conditions

reference laboratory

euploid embryos

hereditary cancer gene

maternal age

autosomal dominant inheritance

BRCA1

BRCA2