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J Assist Reprod Genet ; 41(7): 1907-1915, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38753088

RESUMO

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.


Assuntos
Testes Genéticos , Nascido Vivo , Diagnóstico Pré-Implantação , Humanos , Feminino , Diagnóstico Pré-Implantação/métodos , Adulto , Gravidez , Nascido Vivo/genética , Nascido Vivo/epidemiologia , Testes Genéticos/métodos , Coeficiente de Natalidade , Polimorfismo de Nucleotídeo Único/genética , Hibridização Genômica Comparativa , Estudos Retrospectivos , Taxa de Gravidez , Transferência Embrionária , Fertilização in vitro , Aberrações Cromossômicas , Sequenciamento de Nucleotídeos em Larga Escala , Indução da Ovulação , Doenças Genéticas Inatas/genética , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia
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