Edwards syndrome (trisomy 18) affects approximately 1 in 5,000 to 6,000 live births. Patau syndrome (also known as Trisomy 13) is even less common, occurring in about 1 in 8,000 to 12,000 live births. About 20% of cases of Patau syndrome are caused by translocation. On the other hand, approximately 10% of Edwards syndrome cases are caused by a genetic translocation. Both conditions result in a wide range of birth anomalies including the heart, kidneys, and brain as well as cognitive limitations. Both of these conditions are part of maternal cell free fetal DNA testing (NIPTs). Prenatal counseling for expectant parents whose fetus was found to have T13 or T18 once focused exclusively on options for pregnancy termination or postnatal comfort care, on the presumptive basis that all affected infants died. However, examination of contemporary outcomes for these infants suggests that death in the neonatal period is not universal, particularly for infants who receive intensive medical and surgical care after birth. Although severe cognitive and motor impairment and shortened lifespan are anticipated for all survivors, some infants with these disorders live for 1 year or more, and some attain social and interactive milestones, with positive quality of life noted by their caregivers. This has led to newly updated guidance released by the AAP on July 21, 2025. This is a marked shift in counseling for parents of an affected child. Here, we will review what this new guidance is, and what it isn’t. Listen in for details.
1.https://publications.aap.org/pediatrics/article/doi/10.1542/peds.2025-072719/202649/Guidance-for-Caring-for-Infants-and-Children-With Guidance for Caring for Infants and Children With Trisomy 13 and Trisomy 18: Clinical Report | Pediatrics | American Academy of Pediatrics