Newborn screening including examination for cystic fibrosis

Newborn screening including examination for cystic fibrosis

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Examination for cystic fibrosis new component in newborn screening
Since September 1, a so-called newborn screening can also be used for an examination for cystic fibrosis. This is to ensure that the diagnosis is made as early as possible and that the chances of survival of the affected children are significantly improved. "A few drops of blood from the heel are enough to raise the suspicion of cystic fibrosis in babies," reports the University Hospital Jena (UKJ).

Like at other German clinics, newborn screening for the severe, congenital disease cystic fibrosis is now offered at the University Hospital Jena. Over 140 cystic fibrosis patients are already treated annually at the University Hospital Jena. The newborn screening should identify the disease as early as possible so that the treatment can start accordingly early.

Life expectancy with cystic fibrosis has increased significantly today
The director of the cystic fibrosis center of the children's clinic at the UKJ, Dr. According to Jochen Mainz, those affected have “an average life expectancy of 40 years by using today's therapeutic options”, whereas 50 years ago the children with cystic fibrosis usually died at preschool age. In the course of the disease, especially the lungs are increasingly destroyed by viscous mucus. The introduction of screening is a significant advance in the early detection of the metabolic disorder, says Dr. Mainz. “By diagnosing cystic fibrosis earlier, targeted therapy can be initiated more quickly. This enables us to slow down the appearance of disease symptoms on organs, in addition to the lungs, pancreas, intestines and liver, and in particular to improve lung function, ”explains the expert. In this way, life expectancy and the quality of life of those affected are significantly improved.

200 new cystic fibrosis cases in children every year
The experts estimate that around 8,000 people in Germany are affected by cystic fibrosis and 200 children are born every year, the UKJ reports, citing the figures from the self-help association cystic fibrosis (e.V.). However, it can drag on until those affected receive a corresponding diagnosis. This should change in the future. "Since the introduction of advanced newborn screening in Germany 12 years ago, the examination for cystic fibrosis has integrated another disease into newborn screening for the first time," emphasizes Dr. Ralf Husain, head of the Thuringian Metabolism Center at the UKJ.

Striking results are not necessarily a sign of cystic fibrosis
If abnormal results are found during the screening, appropriate specialists should be consulted for follow-up examinations, explains Dr. Husain: "If the blood test reveals any abnormalities, it does not mean that cystic fibrosis is present, but an initial suspicion needs to be checked," the specialist continues. The parents would then be referred to a certified cystic fibrosis center, where a sweat test will be carried out. "It is not the very urgent implementation, but the quality that is decisive," warns the expert. The sweat test is usually only meaningful in the third week of life and further examinations then have to bring certainty.

Ultimately, around one in five children with abnormal screening are actually diagnosed with cystic fibrosis, explains Dr. Husain. Parents of affected children and all medical colleagues will find competent contacts at the UKJ for the rare diseases examined, continues Husain. Here, "special attention is paid to accompanying the parents in the period between notification of the suspicion and confirmation or exclusion of the respective illness." Because it is important to provide adequate support in the time that is very stressful for the parents. (fp)

Author and source information

Video: Cystic Fibrosis Newborn Screening. (August 2022).