newborns without developmental features having no variations according to an inherited diseases screening;

newborns showing either phenotypic features or deviations according to MS screening

parents refused to enroll their newborns to the study

newborns without specific developmental features having no variations according to an inherited diseases screening, born before term

newborns without developmental features having no variations according to an inherited diseases screening but with affected relative(s)

Whole exome sequencing will be done and all infants will receive a report which will include pathogenic or likely pathogenic variants identified in genes associated with childhood-onset diseases for which specific care or prevention protocols are available. Families signed additional informed consent will receive an advanced report including variants with no care or prevention available, mid or low risk variants, and variants with late onset or those suggesting relatives to undergo screening.

The manifestation of pathogenic or likely pathogenic variants leading to a monogenic disease presenting during early age.

A genotype is considered having risk of developping a monogenic disease in case pathogenic or probably pathogenic variants are detected corresponding to the inheritance model.

Pathogenic, likely pathogenic variants or variants of uncertain significance corresponding to the observed clinical conditions

Questionnaire answers provided by families refused to enroll

Questionnaire answers provided by families accepted screening for variants of low penetrance, no care available etc.

Pathogenic or a likely pathogenic variant causing high risk of developping a cancer

Pathogenic or a likely pathogenic variant causing high risk of developping a cardiomyopathy or a sudden cardiac death