GENETIC FACTORS IN BIRTH DEFECTS

出生缺陷是围产期死亡和丧失生产寿命的主要原因，但许多出生缺陷的原因尚不清楚，更不知道如何预防。遗传因素可能在出生缺陷中起作用，但很难确定具体的遗传因素，因为大多数出生缺陷被认为是由于多种遗传因素，而不仅仅是一种。因此，为了找出可能的遗传风险因素的作用，必须研究大量出生缺陷儿童的数据和生物样本。利用纽约出生缺陷登记处和新生儿筛查计划收集的出生证明和DNA样本中的去识别数据，这项研究将识别大量出生缺陷儿童和没有出生缺陷的儿童。将对这些儿童的DNA进行检测，以确定可能的遗传风险因素。发现与出生缺陷相关的遗传变化是确定出生缺陷如何发生的第一步（通过观察遗传变化的作用），然后，如何预防出生缺陷（通过纠正遗传密码错误引起的错误）。

Birth defects are a major cause of perinatal death and years of productive life lost, but the causes of many birth defects are unknown, and even less is known about how to prevent them. Genetic factors may play a role in birth defects, but it is difficult to identify the specific genetic factors because most birth defects are thought to be due to multiple genetic factors, not just one. Therefore, to sort out the role of possible genetic risk factors, data and biological samples from very large numbers of children with birth defects must be studied. Using de-identified data from birth certificates and DNA samples collected by New York State's birth defects registry and neonatal screening program, this study will identify large numbers of children with birth defects and children without such defects. The DNA from these children will be tested to identify possible genetic risk factors. Finding genetic changes that are associated with birth defects is the first step toward determining how birth defects occur (by looking at what the genetic changes do) and then, how the birth defects may be prevented (by correcting the mistakes caused by errors in the the genetic code cause).