Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports.

Peng H, Yang J, Wang D, Guo F, Hou Y, Yin A. Mol Cytogenet. 2021;14(1):44. Published 2021 Sep 20. doi:10.1186/s13039-021-00559-w. Open Access: Learn more

Tags: Case Report / Case Series, 2021, China, RAAs

  • “NIPT detected 12 cases of T16 and 2 cases of T16 mosaicism. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. Among the 5 true positive cases, 3 cases had ultrasound abnormalities. All of the 9 false positive cases continued their pregnancies. The newborns who were from these 9 false positive cases except 1 case (case 7) had low birth weights (< 2.5 kg) and there were also 2 premature deliveries.”
  • “Conclusion: NIPT serves as a fast and early prenatal screening method, giving clues to chromosome abnormalities and providing guidance for managing pregnancy. Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery.”