Newborn Screening Bibliographical Knowledgebase

Newborn screening takes place in the framework of public health policies aimed at detecting a number of rare diseases, that are often serious and of genetic origin, within the general population. The objective of newborn screening is to implement, as soon as possible, the appropriate course of action in order to avoid or limit the negative consequences of these diseases on the health of the child in question.

Orphanet indexes scientific articles and reglementary texts on newborn screening across the world, based on an on-going literature review*. The results are organised by the name of the disease, ORPHAcode, type of text, language, date of the article, source of the article, geographical region concerned (country or continent). Each column can be filtered and a search function is also available.

If you are interested in knowing more about the neonatal screening offer in a specific country, The International Society for Neonatal Screening provides such a resource (https://membership.isns-neoscreening.org/screening-panels)

* To ensure a complete review of sources, Orphanet cross-checks its review with the review carried out by HAS (French High Authority for Health).


The information provided is based on published scientific articles.

Information in Orphanet is updated on a regular basis. It is possible that new discoveries are made in between updates and thus do not yet appear. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.

Information in Orphanet is not intended to replace professional health care. Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.