10 results match your criteria: "UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust[Affiliation]"
Response to Wynn and Hokovec Regarding "The Use of cfDNA to Screen for Monogenic Conditions in Low Risk Populations Is Ready for Clinical Use".
Prenat Diagn
November 2024
Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, UK.
Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.
Prenat Diagn
April 2024
Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, England.
Article Synopsis
- * Advocates argue sgNIPT can identify affected pregnancies without needing partner testing and provide valuable information about potential fetal anomalies, promoting patient autonomy.
- * Critics highlight the lack of clinical validation, potential for false reassurance, and unnecessary invasive procedures for false positives, suggesting that more research is needed before sgNIPT can be recommended for all low-risk pregnant women.
Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.
Prenat Diagn
April 2019
CEQAS/GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Objective: To ensure accurate and appropriate reporting of non-invasive prenatal testing (NIPT) results, the standard of testing should be measured and monitored by participation in external quality assessment (EQA) schemes. The findings from international pilot EQAs for NIPT for the common trisomies are presented.
Methods: In the first pilot, three EQA providers used artificially manufactured reference materials to deliver an EQA for NIPT.
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
J Med Genet
November 2018
GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Background: Rare genetic conditions are frequent risk factors for, or direct causes of, paediatric intensive care unit (PICU) admission. Such conditions are frequently suspected but unidentified at PICU admission. Compassionate and effective care is greatly assisted by definitive diagnostic information.
View Article and Find Full Text PDFObjective: Non-invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here, we aim to present minimum best practice guidelines.
View Article and Find Full Text PDFEmerging Considerations for Noninvasive Prenatal Testing.
Clin Chem
May 2017
Department of Pathology and Laboratory Medicine, Women & Infants Hospital/Alpert Medical School at Brown University, Providence, RI.
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
Am J Hum Genet
August 2016
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA. Electronic address:
Primary microcephaly is a neurodevelopmental disorder that is caused by a reduction in brain size as a result of defects in the proliferation of neural progenitor cells during development. Mutations in genes encoding proteins that localize to the mitotic spindle and centrosomes have been implicated in the pathogenicity of primary microcephaly. In contrast, the contractile ring and midbody required for cytokinesis, the final stage of mitosis, have not previously been implicated by human genetics in the molecular mechanisms of this phenotype.
View Article and Find Full Text PDFCurrent controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?
Prenat Diagn
January 2016
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Realising the promise of non-invasive prenatal testing.
BMJ
April 2015
PHG Foundation, Cambridge CB1 8RN, UK.