Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies.

Allen, Stephanie K; Chandler, Natalie J; Kinning, Esther; Harrison, Victoria; Brothwell, Shona L C; Vijay, Suresh; Castleman, James; Cilliers, Deirdre

Allen, Stephanie K; Chandler, Natalie J; Kinning, Esther; Harrison, Victoria; Brothwell, Shona L C; Vijay, Suresh; Castleman, James; Cilliers, Deirdre.

Affiliation

Allen SK; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, UK.
Chandler NJ; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Kinning E; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Foundation Trust, Birmingham, UK.
Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
Brothwell SLC; Department of Inherited Metabolic Diseases, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Vijay S; Department of Inherited Metabolic Diseases, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Castleman J; Fetal Medicine Department, Birmingham Women's and Children's Foundation Trust, Birmingham, UK.
Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Prenat Diagn ; 44(4): 432-442, 2024 Apr.

Article in En | MEDLINE | ID: mdl-38063435

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ultrasonography, Prenatal / Metabolism, Inborn Errors Limits: Female / Humans / Newborn / Pregnancy Language: En Journal: Prenat Diagn Year: 2024 Document type: Article Affiliation country:

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