Systematic review of subsequent pregnancy outcomes in couples with parental abnormal chromosomal karyotypes and recurrent pregnancy loss

Objective: To evaluate the current evidence of pregnancy outcomes among couples with recurrent pregnancy loss (RPL) with abnormal karyotypes vs. those with normal karyotypes and among couples with RPL and abnormal karyotypes after receiving expectant man-agement vs. preimplantation genetic diagnosis (PGD).Design: Systematic review and meta-analysis.Setting: Academic medical centers.Patient(s): Pregnancy outcomes in 6,301 couples with RPL who conceived without medical intervention in 11 studies were analyzed. However, only 2 studies addressed the outcomes of couples with RPL and abnormal karyotypes after expectant management (75 cases) vs. PGD (50 cases).Intervention(s): None.Main Outcome Measure(s): The pregnancy outcomes in couples with RPL with abnormal and normal karyotypes across included studies were evaluated.Result(s): Compared with those with a normal karyotype, a significantly lower first pregnancy live birth rate (LBR) was found in cou-ples with RPL with abnormal karyotypes (58.5% vs. 71.9%; odds ratio [OR], 0.55; 95% confidence interval [CI], 0.46-0.65; I2 =27%). A markedly decreased first pregnancy LBR was found in couples with a translocation (52.9% vs. 72.4%; OR, 0.44; 95% CI, 0.31-0.61; I2 =33%) but not in couples with an inversion. However, the differences in accumulated LBR (81.4% vs. 74.8%; OR, 0.96; 95% CI, 0.90- 1.03; I2 = 0) were nonsignificant, whereas the miscarriage rate was distinctly higher in couples with RPL and abnormal karyotypes (53.0% vs. 34.7%; OR, 2.21; 95% CI, 1.69-2.89; I2 = 0). Compared with those who chose expectant management, differences in accu-mulated LBR were nonsignificant (60% vs. 68%; OR, 0.55; 95% CI, 0.11-2.62; I2 =71%), whereas the miscarriage rate (24% vs. 65.3%; OR, 0.15; 95% CI, 0.04-0.51; I2 = 45) was markedly low in couples with RPL and abnormal karyotypes who chose PGD.Conclusion(s): Couples with RPL and abnormal karyotypes had a higher miscarriage rate than couples with normal karyotypes but achieved a noninferior accumulated LBR through multiple conception attempts. In couples with RPL and abnormal karyotypes, PGD treatment did not increase the accumulated LBR but markedly reduced miscarriage rate compared with expectant management. (Fertil Sterile 2022;118:906-14. (c) 2022 by American Society for Reproductive Medicine.)

Automated summary

This study evaluates the pregnancy outcomes of couples with recurrent pregnancy loss (RPL) and abnormal karyotypes. Couples with abnormal karyotypes have a higher miscarriage rate but can achieve a noninferior accumulated live birth rate through multiple conception attempts. In couples with RPL and abnormal karyotypes, preimplantation genetic diagnosis (PGD) treatment does not increase the accumulated live birth rate but significantly reduces the miscarriage rate compared to expectant management.