The EXPRESS study is evaluating the NHS prenatal exome sequencing service

Delivered through seven new genomic laboratory hubs across England, prenatal exome sequencing (ES) is now being offered through mainstream prenatal care in the UK.

This new test is offered during pregnancy when anomalies identified during ultrasound suggest a genetic disorder. With the potential to increase genetic diagnoses in a timeframe that informs prenatal decision-making, prenatal ES could change the landscape of prenatal diagnostic services within the NHS.

But, minimal guidelines for its use makes it crucial that this service is evaluated - and this is the purpose of the EXPRESS study!