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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:
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.
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Inclusion and exclusion criteria
Group 1 (newborns without features):
Inclusion Criteria:
Exclusion Criteria:
Group 2 (newborns with phenotypic features)
Inclusion Criteria:
Exclusion Criteria:
7,000 participants in 6 patient groups
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Central trial contact
Jekaterina Shubina, PhD; Andrey A Bystritskiy, PhD
Data sourced from clinicaltrials.gov
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