{Reference Type}: Journal Article
{Title}: A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements.
{Author}: Van Der Kelen A;Keymolen K;Cools W;De Vos A;Pölsler L;De Vos M;Blockeel C;Fernandez-Gallardo E;De Rycke M;Berckmoes V;Verdyck P;Hes FJ;Verpoest W;
{Journal}: J Assist Reprod Genet
{Volume}: 41
{Issue}: 7
{Year}: 2024 Jul 16
{Factor}: 3.357
{DOI}: 10.1007/s10815-024-03141-6
{Abstract}: <B>OBJECTIVE: </B>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.<BR><B>METHODS: </B>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).<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.