Medical Professional Publications

Risk Factors for Death in Newborns with Down Syndrome

Columbus, OH — July 2017

Down syndrome, or trisomy 21, is associated with a constellation of medical issues. Newborns with Down syndrome may have multiple congenital and physiological abnormalities that place them at increased risk of death.

Physician-researchers from The Heart Center at Nationwide Children’s Hospital recently identified specific medical conditions, complications and procedures that are associated with increased risk of death in newborns with Down syndrome.

Led by Clifford Cua, MD, a clinical pediatric cardiologist at The Heart Center, the team reviewed data from the Pediatric Health Information Systems (PHIS) database. They looked at cases of Down syndrome patients admitted to more than 40 hospitals within the first thirty days of life over a period of fifteen years.

“We evaluated a little fewer than 6,000 patients that were admitted to these hospitals that had a billing code of Down syndrome,” says Dr. Cua, who is also associate professor of Clinical Pediatrics at The Ohio State University College of Medicine.

“From there, we found that lower birth weight, the presence of diaphragmatic hernia, and some specific cardiac diagnoses – pulmonary venous abnormalities, left-sided obstructive lesions and Ebstein’s anomaly – put patients at a higher risk for death.”

Dr. Cua and his colleagues also found that the development of specific medical complications or the need for particular procedures increased the odds for mortality in newborns with Down syndrome. The patients who died were more likely to have complications such as hydrops and necrotizing enterocolitis prior to death and had higher odds of requiring mechanical ventilation or extracorporeal membrane oxygenation.

“This study gives a broad view of possible risk factors for death in newborns with Down syndrome,” says Dr. Cua. “But further research is needed to better define these factors.”

The team notes that the study has a many limitations. It was a retrospective study and data were limited to those available via the PHIS database. From these data, the researchers could not ascertain the severity of the medical conditions. This information could be especially important in the cases of specific cardiac diagnoses, especially since patients with Down syndrome have a high incidence of congenital heart disease.

“These newborns with Down syndrome have multiple medical issues and the hope is that the caregivers of patients who have these possible risk factors will be more cognizant of it,” says Dr. Cua.

“Awareness of these risk factors is important from a treatment standpoint as well as from a counseling standpoint for parents.”

Dr. Cua and his team are continuing to use the PHIS database to look at other characteristics associated with Down syndrome and have plans to expand to other national databases evaluating risk factors for children with Down syndrome.

Cua CL, Haque U, Santoro S, Nicholson L, and Backes CH. Differences in mortality characteristics in neonates with Down syndrome. Journal of Perinatology. 2017 Apr;37(4):427-431

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