A prospective study of non-invasive prenatal screening technology in preimplantation genetic testing cycles

Abstract

Objective To investigate the role of NIPT 2.0 in prenatal screening among populations undergoing PGT. Methods This study enrolled 113 patients who underwent NIPT 2.0 after 12 weeks of gestation at the Reproductive Medicine Center of Peking University Third Hospital between January 2024 and July 2025. Patients were categorized into PGT (n = 55), IVF (n = 23), and spontaneous pregnancy (n = 35) groups. Amniocentesis performed based on genetic counseling and obstetric indications. Perinatal outcomes were compared across groups and within PGT subgroups. Results 56 women underwent both NIPT 2.0 and IPT, with 100% concordance between tests. NIPT 2.0 results indicated low fetal genetic risk in all 113 pregnant women. Among these, 56 underwent IPT: (37 PGT,9 IVF,10 spontaneous pregnancy group), All 56 prenatal diagnosis results were negative. There were no statistically significant differences among the three groups in miscarriage rate, live birth rate, preterm birth rate, birth defect rate, or neonatal birth weight and length. Further subgroup analysis of PGT Groups showed no significant differences in pregnancy outcomes between patients who underwent IPT and those who did not. Conclusion NIPT 2.0 can serve as a prenatal screening method following PGT-assisted pregnancies. Whether it can replace invasive prenatal testing requires further in-depth research.