Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non-mosaic trisomy 22 is extremely rare in live births. Most affected children die before one year of age. To date, only 29 liveborn cases have been reported and none has carried an additional genetic lesion. In this report, we describe the clinical presentation, cytogenetic, and cytogenomic findings in a liveborn female with complete non-mosaic trisomy 22 as well as a paternally inherited, balanced reciprocal chromosomal rearrangement t(4;6)(q33;q23.3). The proband manifested features commonly seen in individuals with non-mosaic trisomy 22 such as intrauterine growth retardation (IUGR), single umbilical artery, cranial abnormalities, short neck, cleft lip and palate, dysmorphic ears, hypoplastic nipples, digital malformation, congenital heart defects, dysplastic kidneys, and genital anomalies. In addition, she had lobar holoprosencephaly, aqueductal stenosis, and limb and eye problems that have not been associated with complete trisomy 22 in previous reports. She died at 35 days of age of complex heart disease and renal failure. We are hereby expanding the cytogenetic and clinical spectrum of this rare chromosome disorder. Clinical features of liveborn children with non-mosaic trisomy 22 are reviewed and compared to those in our proband. The impact of genomic content in relation to the survival of trisomies in humans is also discussed.
Objective The objective of this paper was to describe peri-procedural events and complications of infants requiring laser photocoagulation for retinopathy of prematurity (ROP) in a level IV neonatal intensive care unit.
Study Design A retrospective chart review was performed of neonates requiring ROP exams from January 2017 to August 2020. Baseline maternal and neonatal characteristics, ROP exam findings, and associated treatment were analyzed. Group characteristics were compared based on the need for laser photocoagulation. Subgroup analysis of the laser group including respiratory outcomes, cardiorespiratory index (CRI) scores, and pain scores was also performed.
Results Neonatal and maternal characteristics in the laser (n = 27) and non-laser (n = 172) groups were assessed. Of the 81.5% (22/27) that required re-intubation for laser, 36% (8/22) had >1 intubation and 18% (4/22) had >1 extubation attempt. The average duration of intubation following laser was 2.46 ± 7.13 days, with 40% (9/22) needing peri-extubation steroids and 18% (4/22) racemic epinephrine to facilitate extubation. Mean total respiratory support time post-laser was 8.65 ± 15.23 days. Mean neonatal pain, agitation, and sedation scores after laser were zero immediately after the procedure, 0.09 ± 0.33 at 12 hours, 0.11 ± 0.47 at 24 hours, and 0.11 ± 0.51 at 48 hours. The mean CRI scores were 1 ± 0 immediately after the procedure, 1.17 ± 0.4 at 12 hours, 1.41 ± 0.20 at 24 hours, and 1 ± 0 at 48 hours.
Conclusion Nearly all infants undergoing laser photocoagulation for ROP in our cohort required intubation and continued respiratory support. Despite stability during the procedure, complications from intubation were common.
Key Points
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.