What are the benefits of screening for severe combined immunodeficiency (SCID) in newborns?

There are various tests to detect diseases in newborn babies. One of these diseases is known as SCID: severe combined immunodeficiency. The test can detect certain disorders.
All parents are offered tests for their newborn babies. The aim of screening is to detect diseases early in order to improve the chances of successful treatment. In Germany, special guidelines (“Kinder-Richtlinie”) specify what is to be tested in children.
A test known as the expanded newborn test is done when babies are 2 or 3 days old. A small blood sample is taken, usually from one of their heels. A few drops of the blood are placed on special filter paper to test for various hormonal and metabolic disorders. Since 2019, for severe combined immunodeficiency (SCID) has also been a standard part of this expanded newborn program in Germany. The costs of this test are covered by German statutory health insurers. If the test suggests that there is a problem, the parents are informed right away.
The term “severe combined immunodeficiency (SCID)” describes a group of inherited diseases. In these diseases, cells known as T-cells (and sometimes B-cells and natural killer cells too) don’t work properly, or don’t work at all. Without these cells, the body can’t fight germs well enough.
Children who have SCID start getting infections at an early age, in the first few months of life. They can’t fight infections properly, and often die within one or two years if they don’t get any treatment. It is estimated that about 20 babies are born with SCID every year in Germany.
Babies who are diagnosed with this kind of disorder need to be protected from germs. Strict hygiene measures are needed. They can also be treated with medications, such as . Live vaccines should be avoided, though.
To allow the children to build up a working , they can have a bone marrow transplant or a stem cell transplant. Depending on the exact type of disorder, other treatments may be considered too.