UNRAVELLING GENETIC MYSTERIES IN NEONATAL INTENSIVE CARE THROUGH PERIMORTEM TESTING: CASE SERIES AND LITERATURE REVIEW

Abstract

Principal constraints faced by physicians while providing terminal care for newborns without diagnosis are limited time for diagnosis due to rapid deterioration or sudden death, incomplete or inconclusive diagnostic tests and difficulty in obtaining samples. Also, emotional toll on physicians and healthcare teams with difficulty in communicating uncertain diagnoses to families along with grief and bereavement support challenges complicate this situation. The main strategy to combat this circumstance is offering integrated diagnostic approach (biochemical, imaging and genetic tests) to the dying infant. It can provide valuable answers for families experiencing newborn loss, alleviating uncertainty and promoting emotional healing. With imaging and biochemical tests yielding insufficient answers, perimortem genetic testing offers a last resort for diagnostic clarity.1-3