Whole‐genome paternal uniparental disomy identified through prenatal single‐nucleotide polymorphism‐based cell‐free <scp>DNA</scp> screening
SNP-based cfDNA screening can help to identify CHMCF and distinguish between CHMCF and triploidy. For CHMCF, early detection is important for evaluating the risk of adverse outcome and gestational trophoblastic neoplasia. Some of our test-positive cases could have included unrecognized PMD or mosaic/chimeric GW-UPDpat syndrome. These preliminary observations do not allow assessment of the sensitivity or positive predictive value of this test. © 2025 Natera, Inc. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Authors
- Kazumasa Hashimoto (ORCID: https://orcid.org/0000-0002-3319-8899)
- Vivienne Souter
- Dusan Kijacic
- Rupin Dhamankar
- Weili Xu (ORCID: https://orcid.org/0000-0002-6040-2883)
- Peter Benn (ORCID: https://orcid.org/0000-0001-7917-6946)
Institutions
- Natera (United States) (US)
- UConn Health (US)
Publication Details
- Journal
- Ultrasound in Obstetrics and Gynecology
- Published
- 2025-11-26
- DOI
- https://doi.org/10.1002/uog.70144
- Primary Topic
- Gestational Trophoblastic Disease Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00