Genetic Evaluation of Children

In general, there are three categories of children who may require genetic testing. First, there are those children who have multiple congenital anomalies or dysmorphic features. These findings could be caused by chromosome abnormalities, single gene mutations, or teratogenic agents. In these children, in order to ensure that the appropriate tests are ordered, a genetic consultation is important.

A second group of children who may require genetic testing are those in whom deviation from typical development or “normal” growth parameters occur during the first few years of life. Such children may have chromosome abnormalities, single gene mutations, and/or an underlying metabolic disorder. Keep in mind seizures, developmental regression, failure to thrive, and respiratory disturbances can bolster the likelihood of a genetic or metabolic etiology.

Before ordering any genetic testing, it is essential to take a complete patient and family history and to perform a complete physical exam. Children with a family history of a first- or second-degree family member with a genetic disorder also might benefit from genetic evaluation, comprising the third group. For example, even before symptoms are present, testing a child who has a brother with Duchenne muscular dystrophy or a relative with cystic fibrosis may prove life saving if it uncovers a similar diagnosis.