Patterns of congenital anomalies among individuals with trisomy 13 in Texas

Abstract

Few population‐based studies have analyzed patterns of co‐occurring birth defects among those with trisomy 13. We evaluated the frequency of all possible combinations of any one, two, three, or four additional co‐occurring birth defects among 736 individuals with trisomy 13 using data from the Texas Birth Defects Registry for deliveries during 1999–2014. We calculated the observed‐to‐expected ratio for each combination, adjusting for the known tendency for birth defects to cluster non‐specifically. To address potential ascertainment differences among live births and non‐live births, we repeated analyses specifically among live births. The combination of defects with the largest observed‐to‐expected ratio was microcephalus, reduction deformities of brain (e.g., holoprosencephaly), anomalies of nose, and polydactyly. As expected, most of the highest 30 observed‐to‐expected ratios involved combinations with documented features of trisomy 13, including defects of the scalp (e.g., aplasia cutis) and heart. Results were similar among sensitivity analyses restricted to live births. Our findings may help further delineate the phenotypic spectrum for trisomy 13 and may inform future research related to improving screening and counseling for the condition.

Impact of tracheostomies on the long‐term survival of patients with trisomy 13 syndrome

“…Previous studies have reported a livebirth prevalence for trisomy 13 ranging from 0.41 to 0.55 per 10,000 births (Goel et al, 2019; Loane et al, 2013; Springett et al, 2015). Almost all patients with trisomy 13 syndrome have a variety of severe congenital anomalies, such as congenital heart defects, omphalocele, or holoprosencephaly, leading to high mortality and morbidity (Carey, 2010; Diaz et al, 2021). Trisomy 13 has traditionally been considered a “lethal” condition because of its poor survival prognosis.…”

Young adolescent with trisomy 13

“…Trisomy 13 is characterised by severe developmental delay and multiple congenital anomalies, cardinally orofacial clefts, microphthalmia/anophthalmia and postaxial polydactyly of hands and/or feet 2. In more than 50% of trisomy 13, the following anomalies in specific organs/systems are observed3 4: central nervous system (holoprosencephaly, intellectual disability and deafness), craniofacial appearance (abnormal auricles, microphthalmia/anophthalmia, sloping forehead), skin and limbs (ie, simian crease, hyperconvex narrow fingernails, polydactyly), heart (ventricular septum defect (VSD), patent ductus arteriosis, atrial septal defect (ASD) and dextroposition), renal defects and genitalia (cryptorchidism in males; bicornuate uterus in females).…”