Whole Exome Screening of Newborns

Development of the Technology and Methodology for Generation of the Genetic Passport (Genetic Health Record) of Newborn and Application Thereof to Estimate the Mid and Low Penetrance Hereditary Disorders Frequencies in Russian Population and to Uncover Genetic Factors Determining Severe Monogenic Conditions

The aim of the study is to obtain the initial experience of the inclusive genetic screening of newborn.

Two groups of newborns born in RCOGP will be enlisted to the study:

1. newborns without developmental features having no variations according to an inherited diseases screening;
2. newborns showing either phenotypic features or deviations according to MS screening.

The residual volume of the cord blood of all newborns form both groups will be collected and subjected to the whole exome sequencing. The sequencing data will be analyzed in "screening" mode for the first group while for the second group analysis will be performed taking the respective phenotype into account.

The study is planned to cover 7000 newborns in total.

Group 1 (newborns without features):

Inclusion Criteria:

• Infants born in the RCOGP, showing no development features and with no inherited diseases revealed by common screening
• Informed consent signed by a newborn's representative

Exclusion Criteria:

• Parents refuse to participate
• Parent(s) younger 18 years
• Parent(s) unable to make decisions
• The infant is older 30 d
• Blood cannot be collected from the infant

Group 2 (newborns with phenotypic features)

Inclusion Criteria:

• Infants showing either phenotypic features or deviations according to MS screening
• Informed consent signed by a newborn's representative

Exclusion Criteria:

• Parents refuse to participate
• Parent(s) younger 18 years
• Parent(s) unable to make decisions
• Blood cannot be collected from the infant
• Detailed description of the phenotype is not available
• The infant's exome has been already sequenced