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Article

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.

Clinical genetics - 1 Dec 2021

Klapwijk Jasmijn E, Srebniak Malgorzata I, Go Attie T J I, Govaerts Lutgarde C P, Lewis Celine, Hammond Jennifer, Hill Melissa, Lou Stina, Vogel Ida, Ormond Kelly E, Diderich Karin E M, Brüggenwirth Hennie T, Riedijk Sam R

Abstract excerpt

Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for...

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Identifiers

PMID: 34155632
DOI: 10.1111/cge.14010
PMCID: PMC8596644

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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