Prenatal Assesment of Genomes and Exomes (PAGE) Birmingham arm
Research type
Research Study
Full title
Prenatal Assesment of Genomes and Exomes (PAGE) Birmingham arm
IRAS ID
149430
Contact name
Mark Kilby
Contact email
Research summary
Women have ultrasound scans of their baby in pregnancy to check for structural abnormalities (such as a heart defect). If a problem is found, women are offered prenatal testing to check for chromosomal abnormalities in the baby, such as Down’s syndrome. This helps to predict the outcome for the child.\n\nThe chromosomes in our cells consist of strands of DNA which encode all the genes. Standard genetic testing detects large chromosomal changes that can be seen down a microscope. In some centres additional testing can detect smaller chromosomal changes. We plan to look in the greatest possible detail, down to the level of individual building blocks of DNA, to examine the genes (exome and genome sequencing). \n\nIn this study, as the amount of information generated by this testing is vast and the interpretation time-consuming, we cannot give results during the pregnancy. If a genetic reason for the abnormal scan findings is found, this information would be given to parents after pregnancy. This could provide important information about the health of the child or implications for future pregnancies. This research will allow us to discover new genes responsible for causing abnormalities and, if appropriate, to develop methods for speedy feedback of important information during pregnancy in the future.\nWe will also interview parents to find out their opinions on testing and will perform a health economics evaluation to look at the cost of testing.\nIn addition with written consent we will store a small amount of the mothers blood (plasma) to look at non invasive testing for genetic/chromosomal conditions such as Downs syndrome.
REC name
West Midlands - South Birmingham Research Ethics Committee
REC reference
14/WM/0150
Date of REC Opinion
4 Jun 2014
REC opinion
Further Information Favourable Opinion