Study of Preterm Infants and Neurodevelopmental Genes (SPRING)
Research type
Research Study
Full title
Study of preterm infants and neurodevelopmental genes (SPRING): a pilot investigation
IRAS ID
210722
Contact name
Anita Thapar
Contact email
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Around 1 in 10 babies are born too early (known as preterm birth). Preterm birth rates have risen sharply in the last few decades. We do not understand why some babies are born preterm. One possibility is that babies’ and/or parents’ genes are involved. Although survival has greatly improved to over 90%, a significant number of those born very preterm (less than 32 weeks of pregnancy) develop a neurodevelopmental disorder (such as attention deficit hyperactivity disorder or autism spectrum disorder) by childhood. These neurodevelopmental disorders are also strongly influenced by genetic inheritance.
We want to understand how genetic inheritance and preterm birth work together to influence development. Some preterm birth studies suggest having biological relatives with a history of psychiatric disorder further adds risk, others suggest it might not. Other research indicates babies who are born preterm might have a pre-existing genetic anomaly. These possibilities can now be directly tested using lab genetics.
To be able to fully understand all these possibilities, we will need to eventually study thousands of babies born very preterm and obtain information about their neurodevelopmental health outcomes in childhood or later.
Here, we propose to begin answering one question and finding out how to set up a future, much larger study that will address more related questions. First, we examine in a sample of 500, if those born very preterm show an increase in rare genetic deletions and duplications (copy number variants) already implicated as neurodevelopmental genetic risks. We will also conduct an investigation with families, UK neonatal units and a broad range of scientific advisors, that will provide information needed to carry out a future, much larger genetic study of those born very preterm that can be linked to later health outcomes.REC name
Wales REC 3
REC reference
16/WA/0268
Date of REC Opinion
9 Sep 2016
REC opinion
Unfavourable Opinion