“When is a genetics consultation indicated?”
A pediatric genetics consultation is indicated if one or more of the following is true:
• A child has one or more birth defects (such as cleft lip and/or palate)
• A child is experiencing developmental delay or has intellectual disability
• There is a family history of one or more birth defects, developmental delay and/or intellectual disability
In the general population, there is a 3-5% chance for any child to be born with an abnormality. Most of the time, these birth defects are isolated and there is no family history. However, birth defects may be part of a variety of genetic syndromes. These syndromes have other features in addition to the birth defect, and doctors can provide tailored management recommendations depending on the syndrome involved. A genetics evaluation can determine whether the birth defect(s) are isolated or part of a genetic syndrome.
“I have one child with a cleft but I do not plan to have any more children, why should I see genetics?”
Most of the time, cleft lip and/or palate are isolated (not part of a genetic syndrome). Even if this is the case, there is a chance for not only the parents, but for the child him/herself and other family members to have future children with cleft lip and/or palate. A genetics evaluation can provide a more accurate risk assessment for these individuals. Recommendations such as an increased dose of folic acid before and during future pregnancies to reduce the recurrence risk of cleft lip and/or palate can also be provided.
Additionally, a genetics evaluation can determine whether the cleft lip and/or palate are part of a genetic syndrome. Physical exam, medical/family history and possibly genetic testing are used to establish a diagnosis. If a genetic syndrome is present, the recurrence risk and health management recommendations will be personalized. It is important to periodically check in with genetics, as our knowledge of clefting and other disorders may improve with time.