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Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
Cystic fibrosis-related deaths in infancy and the effect of newborn screening
I J Doull1, H C Ryley, P Weller
1Cystic Fibrosis Unit, Department of Child Health, University Hospital of Wales, Cardiff, UK. Doullij@cf.ac.uk
Insights
Newborn screening for cystic fibrosis (CF) can reduce infant deaths. Early diagnosis and treatment are crucial for successful outcomes in infants identified through CF screening programs.
Area of Science:
- Pediatrics
- Genetics
- Public Health
Background:
- Cystic Fibrosis (CF) newborn screening is recommended, but evidence is limited due to improved survival rates.
- Assessing the impact of screening requires careful study design, especially with declining mortality.
Purpose of the Study:
- To evaluate the effectiveness of newborn screening for cystic fibrosis (CF) using immunoreactive trypsin (IRT) measurement.
- To compare mortality rates in screened versus unscreened infants within the first five years of life.
Main Methods:
- A randomized controlled trial involving infants born in Wales and the West Midlands between 1985-1989.
- Infants were randomized to either newborn CF screening (IRT) or diagnosis via clinical presentation.
- Mortality data for children with CF up to age 5 were collected from local pediatricians and the UK CF Survey.
Main Results:
- A total of 464,586 infants were included (230,076 screened, 234,510 unscreened).
- 176 infants had CF; 7 died within 5 years (3 with meconium ileus).
- An intention-to-treat analysis showed all 4 non-meconium ileus deaths occurred in the unscreened group (P < 0.05).
Conclusions:
- Newborn screening for cystic fibrosis demonstrates potential to decrease infant mortality.
- Timely identification and treatment following newborn screening are essential for improving CF outcomes.
Abstract:
Although newborn screening for cystic fibrosis (CF) is widely advocated, hard evidence in its favor is difficult to obtain, partly because of a dramatically improved life expectancy. Between 1985--1989 infants, born in Wales and the West Midlands were randomized to newborn CF screening by heel-prick immunoreactive trypsin (IRT) measurement or diagnosis by clinical presentation. Eligible children with CF who died in the first 5 years of life were identified from the local pediatricians and from the National UK CF Survey. In all, 230,076 infants were randomized to be screened, while 234,510 were unscreened. One hundred seventy-six CF children were identified, of whom 7 died in the first 5 years of life, 3 having presented with meconium ileus. Median age of diagnosis in the screened group was 8 weeks. On an intention to treat analysis, all 4 nonmeconium ileus-related deaths occurred in the unscreened group (Fisher's exact test, P < 0.05). However, the clinical presentation of 2 of these infants led to them being diagnosed prior to 8 weeks, i.e., earlier than would have been likely by screening. In conclusion, newborn screening has the potential to decrease infant CF deaths, but if it is to be successful, identification and treatment must occur as soon as possible after birth.
