P0555 - Multidisciplinary guideline for trisomy 13 and 18 neonatal care, prenatal counseling, and risk stratification

Background/

Objective:
Historically, Trisomy 13 (T13) and Trisomy 18 (T18) have been considered “lethal” diagnoses with a limited life expectancy. Due to extensive comorbidities and perception of low quality of life (QOL), most T13 and T18 neonates have not been offered (or families have not pursued) neonatal intensive care or surgical interventions. With the observation of longer term survival in some T13 and T18 infants, in addition to changing societal attitudes toward people with disabilities, there is advocacy to offer more medical interventions. Our institution has recently observed increased interest from families desiring interventions for their newborns with T13 or T18. As there are a multitude of ethical and clinical factors to consider, we sought to create a unified, multidisciplinary consensus guideline to improve consistency of care for T13 and T18 neonates and families at our institution.

Process:
Our work group included clinicians from neonatology, maternal-fetal medicine, fetal radiology, palliative care, pediatric critical care, pediatric cardiology, pediatric cardiothoracic surgery, pediatric otolaryngology, pediatric general surgery, ethics and nursing. Over a series of meetings, the multidisciplinary committee reviewed current literature and discussed collective experiences with T13 and T18 patients and families. We created a consensus guideline which explores the potential impact of T13 and T18 infants in our region, reviews relevant professional society guidance, summarizes current literature, and considers various quality of life and ethical factors. Rather than creating lists of interventions that may be offered or withheld on the basis of karyotype alone, we created a prenatal risk stratification system to individualize our counseling and care planning with families. Incorporating the presence or absence of fetal structural anomalies and other characteristics, we identified three risk categories (higher risk, standard and reduced risk) to inform counseling and potential medical/surgical interventions offered (Table 1). Postnatal characteristics associated with increased risk were also included in our guideline document. Further, our guideline details various subspecialty consultations indicated for T13 and T18 patients, including pediatric palliative care for all patients.

Conclusions and Relevance:
Despite variation in family and medical team perspectives, clear communication and a positive relationship starting at the time of diagnosis is especially impactful. By creating a unified approach to infants with T13 and T18 based on recent literature, we hope to provide parents with accurate and unambiguous information and decrease provider variability during prenatal and postnatal counseling.