Zoeken naar de juiste diagnose

A pediatric case study showed that genetic testing to obtain a diagnosis becomes increasingly complex. Expectant parents found out prenatally, with an ultrasound that their child has skeletal abnormalities. The search for a diagnosis that followed after this test result shows how complex this can be. This case study furthermore shows that professionals might have aims for testing which differ from parents’ wishes. While professionals in this case wanted to have a diagnosis in an efficient way, the parents involved in this case did not want further testing, supported by their religious believes. As they explained, they will accept their child unconditionally. But when the health problems of their daughter become more severe they accepted testing. This difference in opinions about genetic testing pleas for pre-test counselling which focusses on exploring parental values. Discussing values contributes to a satisfactory diagnostic trajectory and follow-up.

Conflict of interest and financial support: none declared.