The Dysmorphic Infant

A genetics evaluation is essential to find an underlying diagnosis and direct medical care. Genetics should be consulted in the setting of multiple anatomic anomalies, known maternal exposure to a teratogen, a history of familial disorders, increased carrier frequency or ethnic risk, consanguinity, or multiple pregnancy losses. The essential parts of a genetic evaluation include the medical history, family history, dysmorphology examination, literature review, and diagnostic testing. The advancement of techniques utilized in genetic testing, such as chromosomal microarrays, next-generation sequencing, exome and genome sequencing, and RNA sequencing, has greatly improved the ability to make a genetic diagnosis. The best clues to establish a differential diagnosis are generally the rarest. In cases in which there is no clear diagnosis, prognosis and treatment should be determined according to the organ systems involved and the extent of their impairment. In this chapter, we review the impact of genetic disease, the components of a genetic evaluation, and provide considerations for common neonatal diagnoses.