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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Preimplantation Genetic Testing for Aneuploidy Improves Cumulative Live Birth Rate and Reduces Miscarriage in
Luping Yu1,2, Yiqun Tang3, Na Kong1,2
1Reproductive Medicine Center, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China, nju.edu.cn.
Background:
Recurrent pregnancy loss (RPL), defined as ≥ 2 consecutive/nonconsecutive losses, affects 1%-5% of pregnant women. This study is aimed at assessing whether preimplantation genetic testing for aneuploidy (PGT-A) improves cumulative live birth rates and reduces miscarriage risk in couples with recurrent pregnancy loss and normal karyotypes undergoing assisted reproduction.
Methods:
A total of 1039 couples with recurrent pregnancy loss who underwent assisted reproductive treatment were enrolled in this retrospective cohort study between January 2013 and December 2023. Participants were stratified into two groups according to their decision to undergo PGT-A: 200 couples who underwent PGT-A and 839 couples who did not. In total, 670 frozen embryo transfer (FET) cycles were included in the analysis. The clinical characteristics and reproductive outcomes including the cumulative live birth rate were compared between the two groups using different statistical methods.
Results:
PGT-A demonstrated significant improvements in reproductive outcomes for women with RPL. In women ≤ 35 years, PGT-A increased the cumulative live birth rate from 51% to 70% (aRR 1.38, 95% CI 1.059-1.82; p = 0.025), whereas in women > 35 years, the rate improved from 21% to 35% (aRR 1.69, 95% CI 1.03-2.77; p = 0.037). Notably, PGT-A also reduced miscarriage rates in younger women, with early miscarriage rates decreasing from 13% to 7% (p = 0.028) and late miscarriages being eliminated (0% vs. 3%, p = 0.017).
Conclusions:
Preimplantation genetic testing for aneuploidy significantly increased the cumulative live birth rate in couples with recurrent pregnancy loss across both age groups (≤ 35 years and > 35 years) and reduced early and late miscarriage rates in those ≤ 35 years. However, its benefits diminished in patients undergoing fresh embryo transfers, suggesting that the embryo transfer strategy may influence its effectiveness.
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