Annette Vernooij Annette Vernooij Harry Heuts

Faster detection of cystic fibrosis thanks to CHOPIN study

In Body
Written by  Graziella Runchina Friday, 13 December 2013 11:48
Cystic Fibrosis (CF) can be detected in the Netherlands by taking a neonatal heel prick several days after birth. Paediatrician Annette Vernooij-Van Langen (37) conducted doctoral research on the benefits, consequences and cost-effectiveness of two new CF screening methods. The results of her research changed how neonatal heel pricks are performed in the Netherlands. Since 1 May 2011, all newborns are screened for CF. 
Cystic Fibrosis (CF) is one of the most prevalent genetic diseases in the Western world and affects roughly one in every 4,750 newborn babies in the Netherlands. “The disease is caused by two mutations in the so-called CFTR gene. This gene functions as a chloride channel in the surface cells of the skin and mucous membranes,” Vernooij explains on the eve of her PhD ceremony at the Maastricht University Medical Centre (MUMC), where she completed her training as a general paediatrician. “This channel transports water and salt through the cells. If the channel is defective, it can result in abnormally thick and sticky mucous in several organs, including the respiratory and gastrointestinal tract. As a result, mucous accumulates in the small airways, which leads to chronic infections, irreversible lung damage and a shorter lifespan.”

Average life expectancy

“There are roughly 1,700 CF patients in the Netherlands, 600 of which are children. The average life expectancy for CF patients is around forty years old,” explains Vernooij, who currently works as a paediatrician at the Sint Jansdal Hospital in Harderwijk.
In 2007, Vernooij was given the opportunity to conduct extensive research on heel pricks as CF screening method. “In addition to the benefits, such as early detection and treatment, this screening method also has some drawbacks. Some children with abnormal results are incorrectly diagnosed with CF and others are diagnosed with a mild form of CF, but have little to no symptoms later in life. These children do not benefit from early detection.”

CHOPIN study

In 2005, the Health Council agreed that the advantages of CF screening outweigh the disadvantages and decided that all newborns in the Netherlands should be tested for the disease. Vernooij: “The Health Council wanted more research to limit the disadvantages and maximise the advantages.” This was the motivation behind the CHOPIN study (cystic fibrosis heel prick screening of newborns in the Netherlands), which was made possible thanks to a ZonMw subsidy. Vernooij dedicated a significant portion of her dissertation to this study. From 2007 to 2010, she conducted research at the Atrium Medical Centre in Heerlen, under the guidance of paediatric pulmonologist Jeanette Dankert-Roelse, Gerard Loeber from the neonatal screening lab at the National Institute for Public Health (RIVM) and Edward Dompeling, a paediatric pulmonologist at MUMC. 


The CHOPIN study screened 145,499 newborns in Utrecht, Brabant, Limburg and Gelderland for CF. In that period, CF was diagnosed 24 times. “Our research reveals that the combination of two biochemical tests, followed by a mutation analysis and detailed DNA sequencing if necessary, provides the best results. The combined test can accurately detect CF in almost all patients, and minimises the number of false alarms and the detection of carriers or milder forms of CF. This strategy therefore offers the best balance between advantages and disadvantages. The results from the first part of the CHOPIN study prompted the Minister of Public Health to make the CF screening a standard part of neonatal heel pricks as of May 2011.”

Excellent results

“Achieving these results this early in the research phase is amazing,” Vernooij says. “The goal of the study – to expand the Dutch heel prick test with a CF screening – had been achieved before I graduated. I think it’s great that we succeeded in introducing such a wonderful programme on a nationwide scale. The practical application of our research results makes scientific research that much more enjoyable.”
CF initially manifests itself as nutritional problems, stunted growth and frequent respiratory infections. Vernooij: “These symptoms are quite common in young children and therefore CF is not always diagnosed at an early stage. Expanding the neonatal heel prick with a CF screening can help doctors detect CF at a much younger age, which means earlier treatment as well. Rapid detection leads to better growth, better lung function, fewer hospitalisations and lower mortality rates in children and young adults.”


Vernooij knew at a very young age that she wanted to become a paediatrician. “I was always around kids: babysitting, organising children’s parties. After secondary school, the medical programme at the VU University Amsterdam seemed like a logical step.’ Vernooij believes the results of the CHOPIN study are extremely encouraging. “When children are diagnosed using a CF screening as early as three weeks old, they tend to be healthier than those diagnosed after symptoms arise. This is true despite being only five or six months apart in age. When CF is diagnosed using a CF screening, the child has some growth problems. But the diagnosis is made before this progresses to the lungs. In practice, this means that implementing a nationwide heel prick test could save costs as well as lives.”

Annette Vernooij will defend her PhD dissertation: Newborn screening for cystic fibrosis in The Netherlands; the CHOPIN studyon Monday 16 December.

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