Preterm birth and neuropsychiatric genetic risks: a pilot investigation

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Around 1 in 7 babies are born too early. Although survival has greatly improved, we now know that many children who are born very early (less than 32 weeks of pregnancy -known as very preterm birth), develop neuropsychiatric disorders such as ADHD, Autism Spectrum Disorder as well as later mood and psychotic disorders. These same neuropsychiatric disorders also are strongly influenced by genetic inheritance. However we do not know how these risks work together. Although at least 1 in 4 of those born preterm develop an impairing psychiatric disorder by childhood, many remain healthy. Genetic differences between people might be one explanation. 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 birth might have a pre-existing genetic anomaly. These possibilities can now be directly tested using lab genetics. Why do we need to address these questions now? It is because preterm birth rates not only have risen sharply in the last few decades but survival has improved to over 90%. Here, we propose to begin answering one question and finding out how to set up a future, much larger study that will address these 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 neuropsychiatric 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.