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12.2. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland

CF Wright , P Campbell , RY Eberhardt , S Aitken , D Perrett , S Brent , P Danecek , EJ Gardner , VK Chundru , SJ Lindsay , K Andrews , J Hampstead , J Kaplanis , KE Samocha , A Middleton , J Foreman , RJ Hobson , MJ Parker , HC Martin , DR Fitz Patrick , ME Hurles , HV for the DDD Study Firth

Brief summary: In this large-scale, multicenter DNA sequencing study, probands (and families; n=13 449) with previously undiagnosed, severe, likely monogenic, complex developmental disorders from 24 centers in the UK and Irland were studied by whole exome sequencing and microarray analysis. Multimodal data analysis yielded a diagnosis in 41%, more likely with TRIO family analysis. Probands with a history of extreme prematurity, in utero exposure to antiepileptics and ...

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ey0016.14-14 | (1) | ESPEYB16

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord , DJ McMullan , RY Eberhardt , G Rinck , SJ Hamilton , E Quinlan-Jones , E Prigmore , R Keelagher , SK Best , GK Carey , R Mellis , S Robart , IR Berry , KE Chandler , D Cilliers , L Cresswell , SL Edwards , C Gardiner , A Henderson , ST Holden , T Homfray , T Lester , RA Lewis , R Newbury-Ecob , K Prescott , OW Quarrell , SC Ramsden , E Roberts , D Tapon , MJ Tooley , PC Vasudevan , AP Weber , DG Wellesley , P Westwood , H White , M Parker , D Williams , L Jenkins , RH Scott , MD Kilby , LS Chitty , ME Hurles , ER Maher

To read the full abstract: Lancet 2019;393:747757. .This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation ...

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ESPE Yearbook of Paediatric Endocrinology

12.2. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

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