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J Assist Reprod Genet ; 41(7): 1907-1915, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38753088

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.


Subject(s)
Genetic Testing , Live Birth , Preimplantation Diagnosis , Humans , Female , Preimplantation Diagnosis/methods , Adult , Pregnancy , Live Birth/genetics , Live Birth/epidemiology , Genetic Testing/methods , Birth Rate , Polymorphism, Single Nucleotide/genetics , Comparative Genomic Hybridization , Retrospective Studies , Pregnancy Rate , Embryo Transfer , Fertilization in Vitro , Chromosome Aberrations , High-Throughput Nucleotide Sequencing , Ovulation Induction , Genetic Diseases, Inborn/genetics , Genetic Diseases, Inborn/diagnosis , Genetic Diseases, Inborn/epidemiology
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