In Switzerland, small samples of blood are taken from all newborns to screen for 10 diseases:

six metabolic diseases (phenylketonuria, hypothyroidism, MCAD deficiency, galactosaemia, biotidinase deficiency, glutaric aciduria type 1 (AG1) and maple syrup urine disease (MSUD)),
three frequent and/or particularly serious hereditary diseases (cystic fibrosis, adrenogenital syndrome, severe combined immunodeficiency (SCID) and severe T lymphopaenia) (https://www.neoscreening.ch).

However, this does not guarantee that newborns will not have hereditary diseases. Various studies aim to describe the utility of analysing the genomes of all babies, in a project named Babyseq. Babyseq has shown that there is approximately a 10% risk of developing a disease during childhood that could not have been predicted based on family history (Am J Hum Genet 2019 ; 104:6-93).

Nevertheless, no country currently undertakes such testing systematically.

However, one exception that is gaining in interest is trio-based ultra-rapid exome sequencing for critically ill infants (parallel analyses of baby and parents) (Genomic Medicine (2020) 5:20). This study demonstrates the clinical interest of this type of examination for the management of these children in most cases (25/33 children examined).

Children diseases screening at Genesupport