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Genetics

Poster Session 1

(250) Preimplantation genetic testing (PGT) for non-homologous Robertsonian translocation carriers: a twelve-year laboratory experience

Tuesday, February 13, 2024

10:30 AM – 12:00 PM

Location: Prince George's Exhibit Hall CDE, Lower Atrium Level

Presenting Author(s)

Katrina Merrion, MS, CGC (she/her/hers)

Natera
San Carlos, CA, United States

Coauthor(s)

CC

Carrie Chou, MS

Natera, Inc.
Austin, TX, United States
JK

Jeannie Klavanian, MS

Natera, Inc.
Austin, TX, United States
EB

Emily Boniferro, MS

Natera, Inc.
Austin, TX, United States
EA

Erin Armenti, MS

Natera, Inc.
Austin, TX, United States
SS

Sarah Stueber, MS

Natera, Inc.
Austin, TX, United States
Jeffrey Meltzer, MBA, MD

Senior Medical Director, Reproductive Health
Natera, Inc.
Austin, TX, United States
KH

Karine Hovanes, PhD

Laboratory Director, Clinical Genomics
Natera, Inc.
Austin, TX, United States

Primary Author(s)

PB

Peter Benn, DSc

University of Connecticut Health Center
Farmington, CT, United States

Objective: Report preimplantation genetic testing (PGT) results for trophectoderm (TE) embryo biopsies from patients carrying a balanced non-homologous Robertsonian translocation (RT).

Study Design: Retrospective review of results from single nucleotide polymorphism-based PGT performed at a lab between 2011-2023. Results were classified as ‘euploid’ for normal or balanced chromosomes; ‘unbalanced/uniparental disomy (UPD)’ for monosomy or trisomy of a translocation chromosome (with or without unrelated aneuploidy) or if UPD for an imprinted translocation chromosome was present; or ‘unrelated aneuploid’ for aneuploidy that did not involve a translocation chromosome.

Results: PGT results were obtained on 2157/2240 (96.3%) TE biopsies from 301 patients who completed 436 in vitro fertilization cycles (Table 1). Mean maternal age was 34.8 years (range 22-44). Female RT carriers produced a higher rate of embryos with unbalanced translocations compared to male carriers (37.0% vs. 15.8%; p< 0.05%). The rates for normal/balanced embryos were 37.1% for female carriers versus 46.9% for male carriers (p< 0.05%).

Conclusion: The risk for unbalanced RTs is dependent on which parent is the carrier. Despite the high rates of abnormality, carriers of non-homologous RTs can be reassured that they can produce normal/balanced embryos.