Newborn Screening Optional Rotation

Recently, I was given the opportunity to complete a newborn screening optional rotation at The Children’s Hospital of Pittsburgh. This rotation allowed me to participate in on-call cases for all newly diagnosed newborns as well as to see individuals in a follow-up clinic. This rotation provided me with a unique insight into the relationship that is formed between the medical team and families from the time of the initial diagnosis throughout adulthood.

Diagnosis of babies through newborn screening involves the expertise of a variety of different medical professionals. Once abnormal newborn screening results are received, the nurse contacts the patients’ pediatrician to alert them of the finding and allow them the opportunity to contact the families. Once a family is contacted, they are asked to schedule an appointment at Children’s Hospital for additional testing and to talk about the suspected diagnosis.

Once at Children’s Hospital, the family meets with a genetic counselor who obtains a family medical history, reviews the patients’ medical history, and explains the condition in detail. The patient is evaluated by a medical geneticist and based upon the evaluation, the geneticist may order additional testing that is needed to confirm a diagnosis, and may make referrals to other medical specialists. A dietitian is available to meet with families to talk about any dietary restrictions or supplements that may be necessary.

After all relevant testing has been conducted, the family is contacted regarding the results. At this time, the diagnosis may be confirmed or refuted. The medical geneticist will contact the family about follow-up, if necessary. If a diagnosis is confirmed, the patient is followed over time.

Long-term follow-up clinics exist which allow for a unique opportunity in that the genetics team is able to establish and continue a relationship with the patients and their families for an extended period of time. Many patients are seen every 6 months to 1 year and in the follow-up visits the genetics team updates the family history, reviews the patients’ diet and diet options, discusses any applicable medications or research trials, and assesses how the family is coping.

Throughout this rotation, I was tasked with taking family pedigrees, explaining conditions and inheritance, and exploring emotional dynamics associated with a life-long medical diagnosis. Overall, this was an extraordinary experience in that I got to see and understand the importance of newborn screening, I was able to work with multiple medical professionals, and was able to participate in building and continuing long-term relationships with families.

-Kerrianne Morrow, class of 2016