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Criteria to evaluate patterns of segmental and complete aneuploidies in preimplantation genetic testing for aneuploidy results suggestive of an inherited balanced translocation or inversion
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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8244368/ https://www.ncbi.nlm.nih.gov/pubmed/34223276 http://dx.doi.org/10.1016/j.xfre.2020.12.003 |
Sumario: | 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. |
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