Jan, 2001. Screening newborn infants for cystic fibrosis [online]. Seacroft and St James's University Hospitals, Leeds, UK. Available from http://www.cysticfibrosismedicine.com

In Leeds it is felt that there are many advantages of early diagnosis and treatment for the infant with CF (Littlewood, 1999). Early treatment can prevent chest and nutritional problems. When diagnosis is delayed many parents report being quite demoralised by the lack of progress and the inappropriate reassurance of their doctors in the weeks or months before their infant is eventually diagnosed (Littlewood et al, 1987, Littlewood et al, 1995; Murray et al, 1999). Although only 23% of infants born in the UK are screened, it is possible to identify most CF infants in the first days of life by measuring the blood immunoreactive trypsin (IRT) (Heeley & Bangerht, 1992). All CF infants have some pancreatic damage by the time of birth; this causes a leak of tryptic-like substances into the blood detected by the IRT blood test. All newborn infants in the UK have blood taken by heel prick during the first week of life to test for phenylketonuria and hypothyroidism. The same specimen can be used to screen for CF by estimating the IRT, and positives can be further evaluated by examining the same blood spot for the presence of the common CF mutations (Ranieri et al, 1994). At St James's University Hospital a CF screening programme for newborns has been going since 1975, previously using the older BM meconium test (Littlewood et al, 1987), but now using IRT and genotyping (Littlewood et al, 1995; Shapiro et al, 1999).

Incidence of CF in Leeds (1975 - 1998) is approximately 1:2700. One infant died following surgery for meconium ileus and two young ladies died aged 17 years and 23 years. The rest are alive and in excellent condition and their early growth and development have been normal (Littlewood et al, 1995).

It is essential that one person has overall responsibility for the co-ordination of a neonatal cystic fibrosis screening service. Administrative errors, miscommunication and parental anxiety have been minimised by close collaboration of cystic fibrosis nurse specialists, biochemistry and DNA laboratory personnel. The early communication and diagnostic evaluation is difficult and best arranged at a specialist CF unit (McLaughlin et al, 1999).

Even though there may be clinical evidence of some features of CF in the newborn, CF may not be suspected even when the children are under the care of a paediatrician (Giglio et al, 1997). Infants with cystic fibrosis often have abnormal nutritional status (Marcus et al, 1991), abnormal pancreatic function and abnormal growth in the first few months of life (Farrell et al, 1997). Many infants have early infection and inflammatory changes in the lungs (Khan et al, 1995; Armstrong et al, 1995; Armstrong et al, 1996; Giglio et al, 1999).

It is increasingly important to diagnose CF at an early stage before chest damage has occurred in view of the possibility of more specific gene therapy for CF in the future. Also, chronic Pseudomonas aeruginosa infection can now be at least delayed and in some patients prevented (Frederiksen et al, 1997; Frederiksen et al, 1999) and nutritional problems can be avoided (Simmonds et al, 1994; Farrell et al, 1997). Children presenting with gastrointestinal symptoms are likely to be subject to a longer delay in diagnosis than those presenting with chest infections.

The Leeds experience suggests that CF infants do better if diagnosed early by neonatal screening, but only provided that they then receive meticulous paediatric care and close follow-up in a specialist cystic fibrosis centre (Wolfe et al, 1999). Unfortunately, in a large study comparing the progress of screened with non-screened infants with CF, most children received their care in non- specialised paediatric clinics and early diagnosis by neonatal screening appeared to offer no advantages when the two groups were compared at 7 years (Goodchild & Watson, 1995). Many of the objections to neonatal CF screening are now irrelevant. Neonatal screening, early diagnosis and expert treatment provide an opportunity to maintain virtually all CF infants free of significant lung damage (Littlewood, 1999).

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