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- Title
A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements.
- Authors
Van Der Kelen, Annelore; Keymolen, Kathelijn; Cools, Wilfried; De Vos, Anick; Pölsler, Laura; De Vos, Michel; Blockeel, Christophe; Fernandez-Gallardo, Elia; De Rycke, Martine; Berckmoes, Veerle; Verdyck, Pieter; Hes, Frederik Jan; Verpoest, Willem
- Abstract
Purpose: Our objective is to predict the cumulative live birth rate (CLBR) and identify the specific subset within the population undergoing preimplantation genetic testing for monogenic disorders (PGT-M) and chromosomal structural rearrangements (PGT-SR) which is likely to exhibit a diminished expected CLBR based on various patient demographics. Methods: We performed a single-centre retrospective cohort study including 1522 women undergoing 3130 PGT cycles at a referral centre for PGT. A logistic regression analysis was performed to predict the CLBR per ovarian stimulation in women undergoing PGT-M by polymerase chain reaction (PCR) or single-nucleotide polymorphism (SNP) array, and in women undergoing PGT-SR by SNP array, array comparative genomic hybridization (CGH) or next-generation sequencing (NGS). Results: The mean age of women was 32.6 years, with a mean AMH of 2.75 µg/L. Female age and AMH significantly affected the expected CLBR irrespective of the inheritance mode or PGT technology. An expected CLBR < 10% was reached above the age of 42 years and AMH ≤ 1.25 µg/L. We found no significant difference in outcome per ovarian stimulation between the different PGT technologies, i.e. PCR, SNP array, array CGH and NGS. Whereas per embryo transfer, we noticed a significantly higher probability of live birth when SNP array, array CGH and NGS were used as compared to PCR. Conclusion: In a PGT-setting, couples with an unfavourable female age and AMH should be informed of the prognosis to allow other reproductive choices. The heatmap produced in this study can be used as a visual tool for PGT couples.
- Subjects
GENETIC testing; CHROMOSOMAL rearrangement; COMPARATIVE genomic hybridization; BIRTH rate; INDUCED ovulation; LOGISTIC regression analysis; SINGLE nucleotide polymorphisms
- Publication
Journal of Assisted Reproduction & Genetics, 2024, Vol 41, Issue 7, p1907
- ISSN
1058-0468
- Publication type
Article
- DOI
10.1007/s10815-024-03141-6