Newborn screening

Under newborn screening refers to a usually nationally designed program for screening of newborns. Here it should be tested for certain congenital metabolic and hormonal disorders in which a treatment is possible and consequential damages can be avoided by the start of treatment before the onset of symptoms.

Basics

Target and prerequisites of screening methods are described in the article screening. In Germany provides a guideline of the Society of Neonatology and Pediatric Intensive Care Medicine, which was prepared by a joint standing committee of pediatric and obstetric medical societies, the basis for the content and organization of implementation of newborn screening for Stoffwechelstörungen.

Method

The sample is usually taken on the third day of life, often at the same time for U2 investigation. A deviation from the recommended sampling period between 36 to 72 hours after birth, if necessary, require a check-up. By obtaining less drop of blood usually from the heel, or alternatively from a vein, one labeled with the patient data filter paper card in predetermined fields is soaked completely and evenly with blood. The card is then dried for at least one hour at room temperature, but it must not be heated. On the same day it is sent to the screening laboratory. Collecting samples over a number of days is permitted. In addition to conventional test methods (determination of enzymatic activity, colorimetry, immunological) the blood sample is now also analyzed by tandem mass spectrometry.

Amount of testing in Germany

According to the directives of the Federal Committee of Physicians and Sickness Funds on the early detection of disease in children under the age of 6 years of age ( "Children Policy " ) should be investigated under the extended newborn screening:

In addition to the expanded newborn screening a newborn hearing screening for early detection of hearing impairment is performed.

In Mecklenburg- Vorpommern also a test for cystic fibrosis is from 2012-2014 in the framework of an EU project funded in newborns. In Baden- Württemberg the cystic fibrosis screening is offered as part of an ongoing study at the Cystic Fibrosis Center Heidelberg simultaneously with the usual newborn screening since 2008. The introduction of cystic fibrosis in the standard newborn screening is being considered. For the first time since the introduction of screening will determine whether inclusion in the newborn screening satisfies the requirements of Gendiagnostikgesetz.

Amount of testing in Austria

Amount of testing in Switzerland

History

The history of newborn screening is closely associated with Robert Guthrie, who developed in 1962 a simple test to be performed in newborns for phenylketonuria. Previously, Horst Bickel had been able to prove in 1953 that early treatment can prevent the serious consequences of this disease. Mid-1960s, the state introduced a Massachusetts the first newborn screening program. In Germany, the nationwide screening for phenylketonuria was 1969/1970 introduced over the years, other diseases were added and were partially discarded. 1997 recommended the screening Permanent Commission of the German Society for Pediatrics and Adolescent Medicine, screening for diseases 5. One of the pioneers for the expanded newborn screening in Germany Bavaria belonged with his 1999 initiated the pilot project neonatal screening, in which the participating children were tested on more than 100 rare congenital diseases. With new methods of investigation, the spectrum of diseases to be screened in November 2002 has been considerably extended in comparison with previous screenings, even if it was much smaller than in the model project. In the children's guidelines expanded neonatal screening with effect from 1 April 2005 and the newborn was admitted with effect from 1 January 2009 as standard benefits for the first days of life for the statutory health insurance.