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Article

Prenatal exome sequencing: A useful tool for the fetal neurologist.

Clinical genetics - 1 Jan 2022

de Koning Maayke A, Hoffer Mariëtte J V, Nibbeling Esther A R, Bijlsma Emilia K, Toirkens Menno J P, Adama-Scheltema Phebe N, Verweij E Joanne, Veenhof Marieke B, Santen Gijs W E, Peeters-Scholte Cacha M P C D

Abstract excerpt

Prenatal exome sequencing (pES) is a promising tool for diagnosing genetic disorders when structural anomalies are detected on prenatal ultrasound. The aim of this study was to investigate the diagnostic yield and clinical impact of pES as an additional modality for fetal neurologists who counsel parents in case of congenital anomalies of the central nervous system (CNS). We assessed 20 pregnancies of 19 couples...

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Source

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Identifiers

PMID: 34611884
DOI: 10.1111/cge.14070
PMCID: PMC9297851

Provenance

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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