Pediatrician Questions

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Stephen M. Jones, M.D.

1) What are some things we should know about taking care of our child in the first year of life?

Historically, a diagnosis of Trisomy 18 was almost always was met with a discussion of end of life care since almost all children died during infancy. However, it is important to realize that somewhere between 5-10% of these children do survive the first year of life. Although caring for normal newborn infants often requires a great deal of care, providing care for children with special needs such as Trisomy18 will require more constant and specialized care. Because many infants with Trisomy 18 have abnormalities with the cardiac, kidney, and lung organ systems, these children will likely require frequent doctor appointments at both the primary care pediatrician’s office as well as specialists such as the pediatric cardiologist, pulmonologist, and gastroenterologist. In addition, all children with Trisomy 18 will have some type of developmental delays, and will require frequent therapy sessions with physical, speech, and occupational therapists. These therapy sessions will increase the chance of the child meeting various developmental milestones such as interacting with family and friends through smiling, rolling over, self-feeding, sitting up, etc…

2) How can we make sure our child has the proper nutrition?

Children with Trisomy 18 are at increased risk for malnutrition and failure to thrive which may be due to poor oral intake or difficulty growing due to a heart defect. Almost 90% of children with Trisomy 18 have some type of a cardiac defect and children with heart defects often have difficulty gaining weight. In addition, children with Trisomy 18 often have smaller than normal jaws and low muscle tone that often leads to decreased oral intake. Some children may be candidates for a feeding tube that is called a G-tube. This small tube provides for a direct connection between the outer abdomen into the stomach and offers parents another way to get their child the calories and nutrients that are required for growth and development. In addition, consultation with a pediatric gastroenterologist and/or nutritionist might be of benefit to make sure that your child is receiving optimal nutrition.

3) Is eating possible and safe?

Depending upon your unique situation, eating by mouth may be possible. This will best be determined by working with a speech and occupational therapist. It is important to determine if your child is aspirating any of the contents of the food into the lungs which can result in pneumonia. As mentioned above, often children with Trisomy 18 are not able to take enough calories by mouth to grow and develop which might require placement of a G-tube.

4) Is it possible for a child diagnosed with Trisomy 18 to survive the first year of life?

Although approximately 95% of conceptuses with Trisomy 18 die as a embryos or fetuses, up to 5-10% of affected children will survive beyond the first year of life.

5) What are some important things to be on the "watch"for?

Just as a parent needs to be on the lookout for infections, illness, and developmental delays, parents of children with Trisomy 18 require much closer surveillance. Because these children can have heart, craniofacial, pulmonary, neurologic, skeletal, gastrointestinal, urologic, and endocrine problems, making sure that your child meets regularly with all the necessary medical specialties is essential. These medical professionals will assist in identifying problems and issues that come up hopefully before those issues become major problems for your child.