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

Photo of father with newborn baby

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.

Research on screening for SCID in newborns

The aim of for SCID in newborns is to discover severe combined immunodeficiency before the child catches an .

The Institute for Quality and Efficiency in Health Care (IQWiG, Germany) wanted to look into the advantages and disadvantages of newborn for SCID in combination with a bone marrow transplant or stem cell transplant. They couldn’t find any good-quality studies in this area.

So they tried to answer two related questions instead:

  • Can for SCID reliably detect severe combined immunodeficiency?
  • What are the pros and cons of starting treatment before SCID causes symptoms?

The researchers at IQWiG found five studies to help them answer the first question. These studies confirm that the test is suitable for detecting SCID in newborns. But it’s not clear how often the test fails to discover SCID.

The researchers found three studies to help them answer the second question. Two of these studies looked into whether starting treatment and precautionary measures sooner – rather than later – reduces the number of deaths in children with SCID. The death rate was much lower in newborns who were given before they got their first . Treatment with successfully prevented infections.

Screening for SCID may have advantages

Since 2019, a test for severe combined immunodeficiency (SCID) has been a standard part of the expanded newborn program in Germany. Initial research results suggest that routinely for SCID (with greatly reduced numbers of T-cells) in newborns has advantages: This test helps to detect SCID earlier and start preventive treatment sooner. Starting treatment sooner can increase the child’s chances of surviving and developing normally.

Federal Joint Committee (G-BA). Richtlinie des Gemeinsamen Bundesausschusses über die Früherkennung von Krankheiten bei Kindern (Kinder-Richtlinie). October 19, 2017.

Institute for Quality and Efficiency in Health Care (IQWiG, Germany). Newborn screening for severe combined immunodeficiency (SCID screening): Final report; Commission S15-02. 16.11.2016. (IQWiG reports; Volume 463).

IQWiG health information is written with the aim of helping people understand the advantages and disadvantages of the main treatment options and health care services.

Because IQWiG is a German institute, some of the information provided here is specific to the German health care system. The suitability of any of the described options in an individual case can be determined by talking to a doctor. informedhealth.org can provide support for talks with doctors and other medical professionals, but cannot replace them. We do not offer individual consultations.

Our information is based on the results of good-quality studies. It is written by a team of health care professionals, scientists and editors, and reviewed by external experts. You can find a detailed description of how our health information is produced and updated in our methods.

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Created on April 25, 2019
Next planned update: 2022


Institute for Quality and Efficiency in Health Care (IQWiG, Germany)

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