Prenatal Assessment of Genomes and Exomes (PAGE)

Prenatal Assessment of Genomes and Exomes (PAGE)

Prenatal Assessment of Genomes and Exomes (PAGE)

The PAGE study is striving to gain a better understanding of genetic variants causing developmental problems during pregnancy. The ultimate aim is to improve prenatal diagnostics, allowing better genetics-derived prognoses and more informed parental counselling in the future.

About the Partnership

Our PAGE 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 study analyses the genetic information of babies and parents where structural abnormalities were detected during pregnancy. It is the first large UK-based study (of 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. This 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.

All genomic data from exome and genome sequencing (BAM files and VCF files) and clinical data files will be available through the European Genome-phenome Archive (EGA) hosted by the European Bioinformatics Institute (EBI). These anonymised data will only be made available to researchers investigating genetic conditions of early development that manifest during pregnancy who commit to protecting the confidentiality and privacy of research participants. Variants in genes that are likely to cause or contribute to the observed fetal anomaly will also be linked to anonymised records in the DECIPHER web portal.

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  • Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

    Carss KJ, Hillman SC, Parthiban V, McMullan DJ, Maher ER et al.

    Human molecular genetics 2014;23;12;3269-77

  • Prenatal exome sequencing for fetuses with structural abnormalities: the next step.

    Hillman SC, Willams D, Carss KJ, McMullan DJ, Hurles ME and Kilby MD

    Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015;45;1;4-9

  • Exome Sequencing in Fetuses with Structural Malformations.

    Mackie FL, Carss KJ, Hillman SC, Hurles ME and Kilby MD

    Journal of clinical medicine 2014;3;3;747-62

  • Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

    Drury S, Williams H, Trump N, Boustred C, GOSGene et al.

    Prenatal diagnosis 2015;35;10;1010-7

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