About PAGE

The PAGE (Prenatal Assessment of Genomes and Exomes) study analyses the genetic information of babies and parents where structural abnormalities became apparent during pregnancy. It is the first large UK-based study (1000 families) analysing in detail every single gene in our DNA.

The next generation sequencing technology used in this study provides much more detailed data than the current gold-standard prenatal diagnostics; the exact genomic sequence will be determined so that even single nucleotide variations can be detected. The additional information will help to acquire new knowledge about the genetic variation causing the observed abnormalities. The new insights gained by this study will be used to improve diagnostic methods, allowing better genetics-derived prognoses and more informed parental counselling as well as future management of pregnancy and childbirth.

The impact of the new diagnostic technologies will also be evaluated with regards to the family experience (social science), ethics and health economics.

Experts from research centres, NHS fetal medicine units, diagnostic laboratories and a patient support charity have joined forces to form the PAGE consortium. This consortium consists of teams from the Wellcome Sanger Institute, Great Ormond Street Hospital (London), Birmingham Women's Hospital, Ethox Centre (Oxford), the University of Birmingham, the University of Cambridge and the charity ARC (Antenatal Results and Choices). Associated Fetal Medicine Clinics throughout the country are also actively supporting the study by recruiting families and collecting samples.

The PAGE project is funded by the Health Innovation Challenge Fund (HICF). HICF is a funding partnership between the Wellcome Trust and the Department of Health with the aim to support the creation of innovative healthcare technologies which will benefit patients in the NHS and beyond.

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