Publications by authors named "Jiamila Rezhake"
Int J Womens Health
October 2024
Article Synopsis
- - The study aimed to evaluate how effective non-invasive prenatal testing (NIPT) is in identifying fetal pathological copy number variations (CNVs), which are crucial for diagnosing hereditary diseases.
- - A retrospective analysis of fetuses with CNVs revealed a 45.5% false positivity rate for NIPT, with only 4 out of 24 confirmed cases matching results from karyotype analysis, indicating a high missed diagnosis rate.
- - The findings suggest that combining NIPT with other diagnostic methods is essential for accurate pregnancy outcomes, as relying solely on NIPT could lead to unnecessary invasive procedures and difficult decisions regarding pregnancy continuation.
