Journalartikel
Autorenliste: Bedei, Ivonne; Gehrke, Tascha; Gloning, Karl-Philipp; Meyer-Wittkopf, Matthias; Willner, Daria; Krapp, Martin; Scharf, Alexander; Degenhardt, Jan; Heling, Kai-Sven; Kozlowski, Peter; Trautmann, Kathrin; Jahns, Kai M.; Geipel, Annegret; Baumueller, Jan-Erik; Wilhelm, Lucas; Gottschalk, Ingo; Schroeer, Andreas; Graf, Alexander; Wolter, Aline; Schenk, Johanna; Weber, Axel; van den Veyver, Ignatia B.; Axt-Fliedner, Roland
Jahr der Veröffentlichung: 2023
Seiten: 192-206
Zeitschrift: Prenatal Diagnosis
Bandnummer: 43
Heftnummer: 2
ISSN: 0197-3851
eISSN: 1097-0223
Open Access Status: Hybrid
DOI Link: https://doi.org/10.1002/pd.6320
Verlag: Wiley
Abstract:
ObjectiveWe aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X. MethodsFrom a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant. ResultsWe had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high-risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X-chromosome variants. All 16 fetuses with high-risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with "variant" karyotypes had different anomalies. ConclusionBoth, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X-chromosome variant.
Zitierstile
Harvard-Zitierstil: Bedei, I., Gehrke, T., Gloning, K., Meyer-Wittkopf, M., Willner, D., Krapp, M., et al. (2023) Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants, Prenatal Diagnosis, 43(2), pp. 192-206. https://doi.org/10.1002/pd.6320
APA-Zitierstil: Bedei, I., Gehrke, T., Gloning, K., Meyer-Wittkopf, M., Willner, D., Krapp, M., Scharf, A., Degenhardt, J., Heling, K., Kozlowski, P., Trautmann, K., Jahns, K., Geipel, A., Baumueller, J., Wilhelm, L., Gottschalk, I., Schroeer, A., Graf, A., Wolter, A., ...Axt-Fliedner, R. (2023). Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants. Prenatal Diagnosis. 43(2), 192-206. https://doi.org/10.1002/pd.6320
Schlagwörter
45,X/46,XX MOSAICISM; ABNORMALITIES; ANEUPLOIDY; FETOPLACENTAL MOSAICISM; TURNER-SYNDROME; WOMEN
