Article
Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants-Prenatal Findings and Postnatal Outcomes.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2025
Bedei Ivonne, Bruder Johanna, Lund Ida C B, Thomsen Simon H, Vogel Ida, Maciel-Guerra Andrea T, Alvarez-Nava Francisco, Crenshaw Melissa L, Axt-Fliedner Roland, Gravholt Claus H, Skakkebæk Anne
Abstract excerpt
Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management. The objective of this study is to assess the efficacy of non-invasive prenatal testing by cell-free DNA (cfNIPT) in...
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