Contemporary Evaluation of the Neonate with Congenital Anomalies

The evaluation of the neonate with congenital anomalies has always been a vital and challenging task. In recent years, many advances and challenges have complicated the process, including noninvasive prenatal screening, Zika virus, assisted reproductive technology, and rapid exome sequencing. This review will provide a context for the general evaluation of a neonate with congenital anomalies, including adaptation of the most precise terminology, definition of major and minor anomalies, and the determination of whether the anomalies are the result of a sequence, deformation, disruption, or malformation. Practical tools, including a concise family history, nutritional implication, pregnancy history, and the effects of assisted reproductive technologies are also presented. With the advent of Zika virus–associated congenital anomalies, emphasis has also been placed on travel and infection exposures. A particular challenge has been the incorporation of both pre- and postnatal genetic screening and testing into a diagnostic framework. The most common tests will be reviewed, including the practical applications of both a positive and negative result in varying contexts. It has become clear that noninvasive prenatal screening and rapid exome sequencing are having an increasing impact on the evaluation of children with congenital anomalies, and their application and evaluation of their results will be reviewed in detail. The overarching goal of this review is to provide neonatal clinicians the tools to assess, contextualize, and discuss congenital anomalies in neonates to improve communication and the diagnostic process.