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Screening for cystic fibrosis
The New Zealand Medical Journal
|September 14, 1983
Insights
New Zealand screened 49,056 newborns for cystic fibrosis (CF). The study identified 14 CF cases, revealing an incidence of approximately 1 in 3500 births, aiding early diagnosis.
Area of Science:
- Medical Research
- Pediatrics
- Genetics
Background:
- Cystic fibrosis (CF) is a genetic disorder requiring early detection.
- Newborn screening programs are crucial for identifying infants with CF.
- The Crossley test is a common method for newborn screening.
Purpose of the Study:
- To determine the incidence of cystic fibrosis in New Zealand newborns.
- To evaluate the effectiveness of the Crossley test in a national screening program.
Main Methods:
- A 12-month screening of all New Zealand newborns using the Crossley test.
- Follow-up testing for infants with elevated blood immunoreactive trypsin levels.
- Clinical and laboratory studies for definitive diagnosis.
Main Results:
- 49,056 newborns were screened.
- 522 infants had elevated immunoreactive trypsin levels.
- 14 confirmed cases of cystic fibrosis were diagnosed, yielding an incidence of 1:3500.
Conclusions:
- The study established the incidence of cystic fibrosis in New Zealand.
- Newborn screening effectively identifies potential CF cases for early intervention.
Abstract:
During a 12 month period all New Zealand newborns were screened for cystic fibrosis using the Crossley test. Of 49 056 babies tested 522 had a raised blood immunoreactive trypsin level and follow-up testing indicated 19 persistent elevations. Clinical and laboratory studies indicated 14 cases of cystic fibrosis giving an apparent incidence of 1:3500.