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Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

delete2026-06-18
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OA
AI
A
A. Gibbs
R
R. Braham
V
V. Ramachandran
R
R. Roberts
C
C. Willison
T
Tazeen Ashraf
J
J. Cobben
A
Alice Gardham
M
M. Holder-Espinasse
T
T. Homfray
S
Sarju Mehta
D
Dagmar Tapon
P
P. Vasudevan
N
N. J. Chandler *
DOI:10.1002/pd.70192delete
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Abstract

Abstract

En 中文
Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this. In England, VUS that fit the fetal phenotype and require little further evidence for upgrade are discussed at multidisciplinary team (MDT) meetings to determine whether to report. We review the VUS reported by one English laboratory that provides prenatal sequencing to half of England.
Keywords:
multidisciplinary team
prenatal
sequencing
variants of uncertain clinical significance
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Journal

Prenatal Diagnosis cover
Prenatal Diagnosis
IF:
2.7
Papers:
425
Citations:
6.8K

Organization

U
university hospitals of leicester
Scholars:
55
Papers: 24
Citations: 0
A
Addenbrooke's Hospital
Scholars:
240
Papers: 124
Citations: 1.0W
G
G
Guy's Hospital
Scholars:
58
Papers: 15
Citations: 4.5K
S
St George's University of London
Scholars:
75
Papers: 48
Citations: 0
I
Imperial College Healthcare NHS Trust
Scholars:
395
Papers: 218
Citations: 2
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