Preterm birth and neuropsychiatric genetic risks: a pilot investigation

大约七分之一的婴儿出生过早。虽然存活率大大提高，但我们现在知道，许多早产儿（怀孕不到32周-称为极早产），发展为神经精神疾病，如ADHD，自闭症谱系障碍以及后来的情绪和精神障碍。这些神经精神疾病也受到遗传的强烈影响。但我们不知道这些风险是如何共同作用的。尽管早产儿中至少有四分之一的人在童年时患有损害性精神疾病，但许多人仍然健康。人与人之间的基因差异可能是一种解释。一些早产研究表明，有精神疾病史的生物学亲属会进一步增加风险，其他人则认为可能不会。其他研究表明，早产的婴儿可能有预先存在的遗传异常。这些可能性现在可以直接使用实验室遗传学进行测试。为什么我们现在需要解决这些问题？这是因为早产率在过去几十年中不仅急剧上升，而且存活率提高到90%以上。在这里，我们建议开始回答一个问题，并找出如何建立一个未来，更大的研究，将解决这些问题。首先，我们检查了500个样本，如果那些非常早产的人显示出罕见的基因缺失和重复（拷贝数变异）的增加，这些基因缺失和重复已经被认为是神经精神遗传风险。我们还将与家庭，英国新生儿单位和广泛的科学顾问进行调查，这将提供未来所需的信息，对那些早产儿进行更大规模的遗传研究，这些研究可能与以后的健康结果有关。

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.