Residual Risks of Fetal Chromosome Aberrations When Cell‐Free DNA Prenatal Screening Is Normal: A Retrospective Study
The residual risk of a pathogenic CNV after a normal cfDNA result is low in women who opt for screening. However, when ultrasound anomalies are detected, this risk is severely increased, justifying the use of invasive testing even with normal cfDNA results. These figures can be used for pre-and-post-test counseling.
Authors
- Krista Prinsen
- Vyne van der Schoot (ORCID: https://orcid.org/0000-0001-9829-9220)
- Marieke Joosten (ORCID: https://orcid.org/0000-0002-4443-4690)
- Adriana I. Iglesias (ORCID: https://orcid.org/0000-0001-5532-764X)
- Sander Galjaard (ORCID: https://orcid.org/0000-0002-4254-6664)
- Kyra E. Stuurman (ORCID: https://orcid.org/0000-0002-0257-2059)
- Anneke Dijkman
- Robert‐Jan H. Galjaard (ORCID: https://orcid.org/0000-0002-8101-6180)
- Karin E. M. Diderich (ORCID: https://orcid.org/0000-0003-2637-9998)
- Myrthe van den Born
- Malgorzata I. Srebniak (ORCID: https://orcid.org/0000-0003-3429-6156)
- Maarten F. C. M. Knapen (ORCID: https://orcid.org/0000-0001-8869-9554)
- Attie T. J. I. Go (ORCID: https://orcid.org/0000-0002-9206-5279)
- Sabina de Weerd
- Mark Drost
- Florentine F. Thurik
- Jerome M J Cornette (ORCID: https://orcid.org/0000-0001-8482-5138)
- Diane Van Opstal (ORCID: https://orcid.org/0000-0002-3895-6775)
- Dimitri Papatsonis
- Eveline Goedegebuur‐Zwalua
- Stefanie van Veen
- Marjolein J.A. Weerts
Institutions
- Erasmus MC (NL)
- Albert Schweitzer Ziekenhuis (NL)
- Reinier de Graaf Hospital (NL)
- Amphia Ziekenhuis (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-09-24
- DOI
- https://doi.org/10.1002/pd.6888
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00