Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18

• Published in: The Journal of pediatrics 2022-08, Vol.247, p.116-123.e5
• Main Authors: Cortezzo, DonnaMaria E., Tolusso, Leandra K., Swarr, Daniel T.
• Format: Article
• Language: English
• Subjects: congenital abnormalities; neonatal intensive care; prenatal diagnosis; trisomy 18; trisomy13
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2022.04.010

To identify factors associated with prenatal, perinatal, and postnatal outcomes, and determine medical care use for fetuses and infants with trisomy 13 (T13) and trisomy 18 (T18). This population-based retrospective cohort study included all prenatal and postnatal diagnoses of T13 or T18 in the greater Cincinnati area from January 1, 2012, to December 31, 2018. Overall survival, survival to hospital discharge, medical management, and maternal, fetal, and neonatal characteristics are analyzed. There were 124 pregnancies (125 fetuses) that were identified, which resulted in 72 liveborn infants. Male fetal sex and hydrops were associated with a higher rate of spontaneous loss. The median length of survival was 7 and 29 days, for infants with T13 and T18, respectively. Of the 27 infants alive at 1 month of age, 13 (48%) were alive at 1 year of age. Only trisomy type (T13), goals of care (comfort care), and extremely low birthweight were associated with a shorter length of survival. A high degree of variability existed in the use of medical services, with 28% of infants undergoing at least 1 surgical procedure and some children requiring repeated (≤29) or prolonged (>1 year) hospitalizations. Although many infants with T13 or T18 did not survive past the first week of life, nearly 20% lived for more than 1 year with varying degrees of medical support. The length of survival for an infant cannot be easily predicted, and surviving infants have high health care use throughout their lifespans.