Study: NCT05325749

Intervention type: GENETIC
Intervention: Screening
Description: 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.

Intervention type: GENETIC
Intervention: Screening
Description: 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.

Intervention type: GENETIC
Intervention: Screening
Description: 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.

Intervention type: GENETIC
Intervention: Screening
Description: 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.

Intervention type: GENETIC
Intervention: Screening
Description: 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.

Intervention type: GENETIC
Intervention: Family history record
Description: Families enrolled to the study will receive a genetic consult during which a family history will be taken concerning the inherited conditions.

Intervention type: GENETIC
Intervention: Family history record
Description: Families enrolled to the study will receive a genetic consult during which a family history will be taken concerning the inherited conditions.

Intervention type: GENETIC
Intervention: Family history record
Description: Families enrolled to the study will receive a genetic consult during which a family history will be taken concerning the inherited conditions.

Intervention type: GENETIC
Intervention: Family history record
Description: Families enrolled to the study will receive a genetic consult during which a family history will be taken concerning the inherited conditions.

Intervention type: GENETIC
Intervention: Family history record
Description: Families enrolled to the study will receive a genetic consult during which a family history will be taken concerning the inherited conditions.

Intervention type: OTHER
Intervention: Questionnaire survey
Description: Families invited to the study will be asked to undergo a questionnaire survey regarding the reasons to accept or refuse the study, the familiarity of the aims, methods and outcomes of the study as well as the satisfaction.

Intervention type: OTHER
Intervention: Questionnaire survey
Description: Families invited to the study will be asked to undergo a questionnaire survey regarding the reasons to accept or refuse the study, the familiarity of the aims, methods and outcomes of the study as well as the satisfaction.

Intervention type: OTHER
Intervention: Questionnaire survey
Description: Families invited to the study will be asked to undergo a questionnaire survey regarding the reasons to accept or refuse the study, the familiarity of the aims, methods and outcomes of the study as well as the satisfaction.

Intervention type: OTHER
Intervention: Questionnaire survey
Description: Families invited to the study will be asked to undergo a questionnaire survey regarding the reasons to accept or refuse the study, the familiarity of the aims, methods and outcomes of the study as well as the satisfaction.

Intervention type: OTHER
Intervention: Questionnaire survey
Description: Families invited to the study will be asked to undergo a questionnaire survey regarding the reasons to accept or refuse the study, the familiarity of the aims, methods and outcomes of the study as well as the satisfaction.

Intervention type: OTHER
Intervention: Questionnaire survey
Description: Families invited to the study will be asked to undergo a questionnaire survey regarding the reasons to accept or refuse the study, the familiarity of the aims, methods and outcomes of the study as well as the satisfaction.

Intervention type: GENETIC
Intervention: Diagnostic
Description: The results of whole exome sequencing will be analysed according to the infant's phenotype in addition the the general screening pipeline

Intervention type: GENETIC
Intervention: Selective screening
Description: The results of whole exome sequencing will be analysed according to the data of prenatal ultrasound examination, family history and other available alarming information in addition the the general screening pipeline

Intervention type: GENETIC
Intervention: Selective screening
Description: The results of whole exome sequencing will be analysed according to the data of prenatal ultrasound examination, family history and other available alarming information in addition the the general screening pipeline

Intervention type: GENETIC
Intervention: Selective screening
Description: The results of whole exome sequencing will be analysed according to the data of prenatal ultrasound examination, family history and other available alarming information in addition the the general screening pipeline