The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies
Our results indicate that a notable number of fetuses (1:7) with ultrasound anomalies and a normal chromosomal microarray have a (likely) pathogenic variant that can be detected through prenatal ES. These results warrant implementation of exome sequencing in selected cases, including those with an isolated anomaly on prenatal ultrasound.
Authors
- Vyne van der Schoot (ORCID: https://orcid.org/0000-0001-9829-9220)
- Marike Polak (ORCID: https://orcid.org/0000-0002-5012-5480)
- Rick van Minkelen (ORCID: https://orcid.org/0000-0003-2770-2646)
- Sander Galjaard (ORCID: https://orcid.org/0000-0002-4254-6664)
- Kyra E. Stuurman (ORCID: https://orcid.org/0000-0002-0257-2059)
- Karin E. M. Diderich (ORCID: https://orcid.org/0000-0003-2637-9998)
- Joan N. R. Kromosoeto
- Martina Wilke (ORCID: https://orcid.org/0000-0002-8115-8517)
- 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)
- Hennie T. Brüggenwirth (ORCID: https://orcid.org/0000-0003-4303-8896)
- Marjon A. van Slegtenhorst
- Mark Drost
- Florentine F. Thurik
- Frank Sleutels (ORCID: https://orcid.org/0000-0001-6813-5209)
- Galhana M. Somers‐Bolman
- Jona Mijalkovic
- Lies H. Hoefsloot (ORCID: https://orcid.org/0009-0000-3444-9955)
- R. J. H. Galjaard
- Marieke Joosten
- Marjolein J.A. Weerts
Institutions
- Erasmus MC (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2024-09-30
- DOI
- https://doi.org/10.1002/pd.6676
- Citations
- 5
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 5.55