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.

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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
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article

Whole‐genome paternal uniparental disomy identified through prenatal single‐nucleotide polymorphism‐based cell‐free DNA screening

Kazumasa Hashimoto, Vivienne Souter, Dusan Kijacic, Rupin Dhamankar et al.
Ultrasound in Obstetrics and Gynecology
Gestational Trophoblastic Disease Studies
article

Whole‐genome paternal uniparental disomy identified through prenatal single‐nucleotide polymorphism‐based cell‐free DNA screening

Kazumasa Hashimoto, Vivienne Souter, Dusan Kijacic, Rupin Dhamankar, Weili Xu, Peter Benn
article en

Abstract

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.

Ultrasound in Obstetrics and GynecologyVol. 67(1)
Natera (United States) (US), UConn Health (US)
Openalex Percentile: Top 53%
Gestational Trophoblastic Disease Studies
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Whole‐genome paternal uniparental disomy identified through prenatal single‐nucleotide polymorphism‐based cell‐free <scp>DNA</scp> screening — Kazumasa Hashimoto, Vivienne Souter, et al. · Ultrasound in Obstetrics and Gynecology (2025) | TGRS Research Map | TGRS