Cystic fibrosis screening necessary for babies

Cystic fibrosis screening is not standard in babies in Germany

04/04/2014

The earlier the CFU is diagnosed, the better the treatment options that can prolong the patients' lives. Nevertheless, there is so far no nationwide cystic fibrosis screening of newborns in Germany. Only in Mecklenburg-Western Pomerania, as part of a German-Polish cooperation project, all babies will be examined by default for the disease by autumn 2014. Whether additional funds are available for screening is still unclear. Since 2008, doctors, health insurances and hospitals in the Federal Joint Committee and since 2013 also in the Genetic Diagnostics Commission, advise whether cystic fibrosis is included by default in neonatal screening. A decision is expected for summer or fall.

Cystic fibrosis screening in babies can increase life expectancy
Cystic fibrosis is a severe metabolic disease in which the airways in the lungs, the bile ducts and the pancreatic duct obstruct with viscous mucus. As a result, there is a chronic inflammation of the lungs, severe digestive and growth disorders and severe coughing fits. With early treatment, however, these complaints can usually be alleviated. However, according to the latest report, Quality Assurance Cystic Fibrosis, only half of the patients receive the disease within the first year of life, so many of them are late in their treatment. „The symptoms are initially often unspecific, so that the diagnosis can often be made only months or years later. Then the organs may already have been permanently damaged“, explains Professor Matthias Nauck, Director of the Institute of Clinical Chemistry and Laboratory Medicine at the University Hospital Greifswald and Head of the Screening Laboratory in Mecklenburg-Vorpommern.

According to the University Hospital, around 8,000 children, adolescents and young adults are currently affected in Germany. Every year around 200 children develop CF, which is one of the most common inherited metabolic diseases in Central Europe. According to Mukoviszidose e.V., representing the interests of those affected, one of 3,500 to 4,000 babies in Germany is born with the disease. Life expectancy is around 35 to 40 years, with patients with mild disease progression also getting older.

Cystic fibrosis screening is already standard in other EU countries
So far, about 15 percent of newborns are screened in Germany, since university hospitals offer, among others, in Greifswald, Dresden, Heidelberg and casting the investigation. By default, as in many other EU countries, but it is not carried out in this country. „Every newborn in Germany has the right to a screening test for congenital metabolic and hormonal disorders. For this purpose, a few drops of blood are removed from the heel on the third day of life and dripped onto a special filter paper card“, explains the head of the project in Greifswald, Cornelia Müller, the procedure. „As part of a project funded by the EU, a further examination for cystic fibrosis from the same dried blood card is carried out with the express consent of the parents.“

In Mecklenburg-Vorpommern, all obstetrics clinics participate in the project. „Doctors and nurses make a significant contribution to its acceptance and success. Thanks to their educational work, about 95 percent of newborns participate in it“, reports the project coordinator, Theresa Winter. If abnormalities are detected in the analysis of the blood samples, the children will be referred for further examinations to specialized outpatient clinics on the spot, as only a sweat test, which determines the salinity in the sweat, provides information on whether a child is actually suffering from cystic fibrosis. According to experts, the error rate for the blood test is currently 7: 1. Remedy could be to create an additional DNA test that could follow after the biochemical examination of the blood.

Early diagnosis of cystic fibrosis is essential
„An early diagnosis and consequent disease progression and life expectancy should not depend on where one is born“, reminds Jutta Bend of Mukoviszidose e.V. in Bonn to the news agency „dpa“. In the opinion of the association the fastest possible introduction of nationwide, standard cystic fibrosis screening in newborns is essential. For an early diagnosis and therapy can prevent, among other things, complications of the lung. „The children develop better and live longer“, explains the Head Physician Sebastian Schmidt of the Cystic Fibrosis Outpatient Department at the University Medical Center Greifswald. He reports on the case of little Mati, the first child who was diagnosed with cystic fibrosis during the screening. „In close consultation with the parents, a corresponding therapy with physiotherapy and daily inhalations was started. There are also drugs for the indigestion that is typical of the disease. In the weeks following the birth, the boy had continued to lose weight, which left his parents very worried. After starting therapy, however, he was able to increase his weight from just under three kilograms to over five kilograms within a few weeks.“ (Ag)