Newborn screening including cystic fibrosis

Investigation on cystic fibrosis new ingredient in neonatal screening
Since the first of September, a screening for cystic fibrosis can be carried out in the so-called neonatal screening. This should ensure the earliest possible diagnosis and significantly improve the chances of survival of the affected children. "A few drops of blood from the heel are enough to make babies suspected of cystic fibrosis," reports Jena University Hospital (UKJ)..

As in other German clinics, the University Hospital Jena now offers neonatal screening for the severe congenital cystic fibrosis. More than 140 cystic fibrosis patients are already being treated at the Jena University Hospital every year. The neonatal screening should detect the disease as early as possible, so that the treatment can be used accordingly early.

The study on cystic fibrosis will be offered in future as part of the newborn screening. (Image: Zerbor / fotolia.com)

Life expectancy with cystic fibrosis increased significantly today
The Head of the Cystic Fibrosis Center at the Children's Clinic, UKJ. According to Jochen Mainz, those affected have "an average life expectancy of 40 years using current treatment options," whereas 50 years ago children with cystic fibrosis usually died in pre-school age. In the course of the disease, especially the lungs are increasingly destroyed by tough mucus. The introduction of the screening is a significant advance in the early detection of metabolic disease Mainz. "By diagnosing cystic fibrosis earlier, targeted therapy can be initiated more quickly. As a result, we can slow the onset of symptoms in organs other than the lungs, pancreas, intestine, and liver, and in particular, improve lung function, "explains the expert. In this way, the life expectancy and the quality of life of those affected will be significantly improved.

Every year, 200 new cystic fibrosis cases in children
According to experts, around 8,000 people in the whole of Germany suffer from cystic fibrosis, and every year 200 children are born with the disease, the UKJ reports, citing the figures of the self-help association cystic fibrosis (e.V.). However, it may take some time before the affected persons receive a corresponding diagnosis. This should change in the future now. "Since the introduction of extended neonatal screening in Germany, 12 years ago, the study on cystic fibrosis for the first time integrates another disease into neonatal screening," emphasizes Dr. med. Ralf Husain, Head of the Thuringian Metabolic Center at the UKJ.

Conspicuous results are not necessarily a sign of cystic fibrosis
If noticeable results are found during the screening, appropriate specialists should be consulted for follow-up examinations, explains Dr. med. Husain: "If the blood test results in a conspicuous finding, then it does not mean that cystic fibrosis is present, but a first suspicion must be examined," the expert continued. The parents would then be referred to a certified cystic fibrosis center, where a sweat test is performed. "It is not the very urgent execution, but the quality is decisive," warns the expert. In most cases, the sweat test is only meaningful in the third week of life and further examinations would then have to bring certainty.

Finally, around one out of five children with conspicuous screening are actually diagnosed with CF. Husain. Parents of affected children and all medical colleagues find competent contact persons for the investigated rare diseases at the UKJ, Husain continues. Here, "special attention is paid to the accompaniment of the parents in the period between the communication of the suspicion and confirmation or exclusion of the respective illness." For it is important to have adequate support, in the very stressful time for the parents. (Fp)