Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants
Open accessAbstract
OBJECTIVE: We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X. METHODS: From 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. RESULTS: We 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. CONCLUSION: Both, 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.
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The high number of false positive results leads to an undesirable increase in invasive testing.
“The high number of false positive results leads to an undesirable increase in invasive testing.66”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [66]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Self-citation
- Authors
- 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. M., Geipel, A., Baumüller, J., Wilhelm, L., Gottschalk, I., Schröer, A., Graf, A., Wolter, A., Schenk, J., Weber, A., Van den Veyver, I. B., & Axt‐Fliedner, R.
- Affiliations
- Justus-Liebig-Universität Gießen (DE)
- Prenatal Medicine and Genetics München Duesseldorf Germany
- Klinikum Rheine (DE)
- Center for Prenatal Medicine and Human Genetics Hamburg Germany
- Center for Prenatal Medicine on Elbe Hamburg Hamburg Germany
- Center for Prenatal Medicine Mainz Germany
- Praenatal Plus Köln Germany
- Zentrum für Pränataldiagnostik (DE)
- Prenatal Medicine and Genetics Düsseldorf Praenatal.de Duesseldorf Germany
- Center for Prenatal Medicine “am Salzhaus” Frankfurt Germany
- Johannes Gutenberg University Mainz (DE)
- University Hospital Bonn (DE)
- Gynaekologikum Frankfurt Frankfurt Germany
- Westend Ultrasound Frankfurt Germany
- University of Cologne (DE)
- Departments of Obstetrics and Gynecology and Molecular and Human Genetics Baylor College of Medicine Houston Texas USA
- Department of Prenatal Medicine and Fetal Therapy Justus‐Liebig University Giessen Germany
- Corresponding author
- Bedei, Ivonne
- ORCID
- Venue
- Prenatal Diagnosis
- Publisher
- Wiley
- Published
- 2023-02
- Volume
- 43
- Issue
- 2
- Pages
- 192-206
- ISSN
- 0197-3851 (ISSN-L)
- 1097-0223
- OpenAlex
- W4318919555
- Cited by
- 7
- References
- 73
- Citations by year
- 2026: 3 · 2025: 1 · 2024: 1 · 2023: 2
- FWCI
- 2.58
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Prenatal Diagnosis (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Universitätsbibliothek Gießen
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, monosomy X, non-invasive prenatal testing, fetal malformations, cystic lymphangioma, hydrops fetalis, false positives
- MeSH terms
- Cell-Free Nucleic Acids, Down Syndrome, Female, Humans, Pregnancy, Prenatal Diagnosis, Retrospective Studies, Turner Syndrome, X Chromosome, Hydrops Fetalis, Lymphangioma, Cystic
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