Hochdurchsatzsequenzierung in der Neonatologie: Chancen und Risiken

Genetic diseases that become clinically noticeable prenatally or in the early neonatal period place special demands on the treating physicians. The clarification of suspected genetic diagnoses is in most cases under great time pressure and heavy emotional strain on the parents concerned. The correct diagnosis can result in a curative treatment and then have a significant influence on the prognosis for the child. Even without treatment options a rapid genetic diagnosis in critically ill neonates is of great importance for the withdrawal from potentially stressful clinical diagnostics and initiation of palliative care.

According to larger studies from the last 10 years on genetic diagnostics in pediatric and neonatal intensive care medicine, a genetic diagnosis can probably be made in 30–50% of patients using high-throughput sequencing. It should be borne in mind that there is not always a causative connection between the genetic changes and the clinical picture. This means that there is a risk of a diagnostic misinterpretation, especially in neonates with unspecific illnesses. A close interdisciplinary collaboration between pediatricians and geneticists is mandatory for complex genetic diagnostics. Ethically difficult questions can arise from additional genetic findings that are relevant not only for the (future) health of the child but also for the entire family. Based on four case reports, this article illustrates the opportunities and also the risks that arise from the current possibilities of genetic analysis.