Genetic Factors in Birth Defects

已从大约20个主要畸形中获得DNA，用于当前和未来的调查。 我们最近扩大了我们的调查，包括在罕见的缺陷中寻找拷贝数变异。 纽约拥有极其宝贵的研究资源，每年约有25万名新生儿，可从中识别出患有罕见缺陷的儿童。除了经典的候选基因方法之外，还选择了用于拷贝数变异研究的病例。 我们与疾病预防控制中心的国家出生缺陷预防研究和爱荷华州大学的Paul Romitti博士合作，目前正在检查与后鼻孔闭锁相关的遗传数据，后鼻孔闭锁是一种鼻道无法正常发育的缺陷。 这项研究包括测试来自纽约州和国家出生缺陷预防研究合作小组的样本。目前正在研究的其他缺陷包括肥厚性幽门狭窄、脐膨出和颅缝早闭。 该研究参与了主要类型颅缝早闭的多中心研究者。 我们与丹麦哥本哈根的Statens血清研究所建立了合作关系，以检查先天性脑积水的遗传因素。 实验室分析已经完成，对结果的解释已经开始。 我们还与爱荷华州大学合作，研究马蹄内翻足的遗传风险因素。 在COVID大流行的限制下，该等研究正在推进中。幸运的是，我们已经能够利用纽约州新生儿筛查数据来完成上述研究。

DNA has been obtained from approximately 20 major malformations for current and future investigations. We have recently expanded our investigations to include searching for copy number variants in rare defects. New York has an exceptionally valuable research resource in having approximately 250,000 births per year from which to identify children with rare defects. In addition to classic candidate gene approaches, cases have been selected for copy number variant studies. Our collaboration with the CDC's National Birth Defects Prevention Study and Dr. Paul Romitti at the University of Iowa is currently examining genetic data for associations with choanal atresia, a defect in which the nasal passages fail to develop normally. This study involves testing samples from New York State and from the collaborative group that formed the National Birth Defects Prevention Study. Other defects currently being studied include hypertrophic pyloric stenosis, omphalocele and craniosynostosis. The study participates in a multi-center investigator of the major types of craniosynostosis. We have established a collaboration with the Statens Serum Institut in Copenhagen, Denmark to examine genetic factors in congenital hydrocephalus. Laboratory analysis is complete and the interpretation of the results has begun. We also collaborate with the University of Iowa to examine genetic risk factors in club foot. Within the constraints imposed by the COVID pandemic, these studies are advancing. Fortunately, we have been able to make use of the NY State Newborn Screening data to complete the studies reported above.