P3B057: Palliative and Everything in Between: How Diagnostic Uncertainty Can Dramatically Impact Care Goals

Introduction: Fanconi anemia is an inherited double-stranded DNA repair defect defined by pancytopenia and multiorgan abnormalities (1). After diagnosis, patients require extensive extra-hematologic monitoring including endocrinological, hepatic, renal, cardiac, genitourinary, musculoskeletal, neurologic, hearing, and visual evaluations (2). This case highlights the tumultuous nature of rapidly changing diagnoses and goals of care, emphasizing the importance of preparing families for these transitions and providing clear, consistent communication.

Case Description: This is a 5-month-old female prenatally diagnosed with intrauterine growth restriction, microcephaly, severe coarctation of the aorta, and multiple central nervous system malformations. She was predicted to have a low likelihood of survival after birth following patent ductus arteriosus closure and that development may not progress beyond the newborn stage. The family enrolled in perinatal palliative care and the patient went home with a durable “do not resuscitate” (DNR) order and comfort care goals. However, she remained pink and vigorous. Echocardiogram at three weeks of age revealed no coarctation but large ventricular septal defect. At one month of age, during admission for respiratory distress secondary to RSV, whole exome sequencing returned positive for Fanconi anemia, fitting the patient's clinical phenotype. Postnatal brain MRI was also less severe than prenatally diagnosed. Patient’s code status was DNR, but in discussion with family, her new prognosis led to change to full code with disease directed care goals. Due to unforeseen cardiac and neurological status and Fanconi anemia diagnosis, the family requested open communication and reassessment of care goals with each clinical event. They established a primary care pediatrician, inserted a nasogastric tube for catch-up growth, and set up multiorgan surveillance for her new Fanconi anemia diagnosis.

Discussion: Goals of care discussions that begin prenatally require frequent revisitation based on the newborn’s clinical status and transparency in diagnostic tools’ accuracy. Providers should prepare parents for the possibility of unpredictable outcomes and be able to communicate new information within the overarching clinical picture. This can lead to sudden, dramatic changes in code status and goals of care when unexpected clinical information arises. This family abruptly transitioned from comfort care to full disease-directed care with complex surveillance, but requested frequent reassessment due to numerous, unanticipated diagnostic changes. The complexity, care coordination, and emotional strife should not be underestimated and a communicative team during the newborn period can minimize family distress, prevent miscommunication, and facilitate smoother care transitions.

Conclusion: Neonates prenatally determined to require palliative care at birth may have drastically different clinical outcomes than predicted, leading to care shifts that may be overwhelming, confusing, and stressful for families. Managing expectations, clearly communicating, and frequently re-evaluating a newborn’s prognosis and goals of care at each clinical juncture can help families navigate this difficult transition and be more prepared for unexpected developments in care plans.