Criteria to evaluate patterns of segmental and complete aneuploidies in preimplantation genetic testing for aneuploidy results suggestive of an inherited balanced translocation or inversion

• Main Authors: Alyssa C. Snider, Ph.D., C.G.C (Author), Tristan Darvin, M.S (Author), Lauren Spor, B.S (Author), Adedoyin Akinwole, M.P.H (Author), Cengiz Cinnioglu, Ph.D (Author), Refik Kayali, Ph.D (Author)
• Format: Book
• Published: Elsevier, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Objective: To define criteria for determining when preimplantation genetic testing for aneuploidy (PGT-A) results are suggestive of a potential balanced chromosomal rearrangement in the egg or sperm source and warrant karyotyping. Design: Performance evaluation of criteria developed to assess PGT-A results for patterns of imbalances suggestive of a balanced chromosomal rearrangement in the egg or sperm source. Setting: A single PGT-A laboratory and multiple in vitro fertilization centers. Patients: Reproductive couples who underwent routine PGT-A testing. Interventions: Karyotyping of reproductive couples for whom patterns of imbalances observed in PGT-A results suggested a balanced chromosomal rearrangement in the egg or sperm source. Main Outcome Measures: Correct or incorrect flagging of predicted translocation in either the egg or sperm source based on chromosome analysis. Results: Proposed criteria correctly predicted a balanced reciprocal translocation in 97% of cases (n = 33), a (13;14) Robertsonian translocation in all cases (n = 3), and an inversion in all cases (n = 2). Other criteria evaluated were determined to be ineffective because of relatively low occurrences that met the criteria and/or low predictive value. Conclusions: Our results showed that the proposed criteria were effective for evaluating patterns of imbalances observed in PGT-A results suggestive of a potential chromosomal rearrangement in the egg or sperm source. Our proposed criteria can be employed by clinicians in the in vitro fertilization setting in combination with a patient's reproductive history to identify PGT-A patients who are likely carriers of balanced chromosomal rearrangements.

Item Description

2666-3341
10.1016/j.xfre.2020.12.003