Transitions in Care for Infants with Trisomy 13 or 18

Abstract

The scope of interventions offered to infants with trisomy 13 (T13) or trisomy 18 (T18) is increasing. We describe the spectrum of care provided, highlighting transitions in care for individual patients. This is a single-center, retrospective cohort of infants with T13 or T18 born between 2004 and 2015. Initial care was classified as comfort care or intervention using prenatal counseling notes. Transitions in care were identified in the medical record. In this study, 25 infants were divided into two groups based on their care: neonates who experienced no transition in care and neonates who experienced at least one transition. Eleven neonates experienced no transition in care with 10 receiving comfort care. Fourteen neonates experienced at least one transition: three transitioned from comfort care to intervention and 11 from intervention to comfort care. The three initially provided comfort care were discharged home with hospice and readmitted. Among the 11 cases who transitioned from intervention to comfort care, 9 transitioned during the birth hospitalization, 6 had no prenatal suspicion for T13 or T18, and 5 experienced elective withdrawal of intensive care. The spectrum of care for infants with T13 or T18 illustrates the need for individualized counseling that is on-going, goal directed, collaborative, and responsive.

Conducta médica frente al diagnóstico prenatal de trisomía 18: ¿se aproxima un cambio de paradigma?

“…Después del diagnóstico prenatal de síndrome de Edwards, entre el 60 % y el 90 % de las mujeres realizan la interrupción voluntaria del embarazo (8,(15)(16)(17)24). En una serie de casos con 931 fetos portadores de anomalías cromosómicas -trisomías 21, 18 y 13-, el porcentaje general de aborto fue del 71,1 %, y el específico de trisomía 18 fue del 84,5 % (15).…”

“…La prevalencia de la enfermedad es de 1 cada 6000-8000 nacidos vivos (3,(6)(7)(8)(9)(10)(11). El pronóstico de la enfermedad es variable, ya que depende del grado de afectación de los órganos vitales.…”