Birth defects not always as lethal as doctors once said
Dr. Astrid Guttmann, a senior scientist and chief science officer at the Institute for Clinical Evaluative Sciences and an associate scientist in the Veterans & Community Research Program at Sunnybrook Research Institute, co-authored a study on trisomy 13 and trisomy 18, rare genetic conditions involving extra copies of chromosomes 13 and 18. These disorders cause neurodevelopmental and physical disability, breathing problems and heart defects. Most children diagnosed die shortly after birth, although there are limited data suggesting some children survive longer.
Guttmann and colleagues, led by Dr. Katherine Nelson at SickKids, conducted a retrospective cohort study using two decades of data from Ontario health administrative databases. The aim was to look at survival and use of surgical interventions in children with the rare conditions over a 21-year period.
Of the 428 children born with trisomy 13 and trisomy 18, researchers found less than 20% lived longer than a year. About 10% to 13% survived for 10 years, however, suggesting that severe birth defects are not as lethal as doctors once advised parents. There were no results on quality of life, however, and the researchers noted that the study alone cannot be used to guide treatment decisions.
The study was published in the Journal of the American Medical Association.
