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Whole Exome Screening of Newborns

Infant, Newborn Clinical Trial

Official title:
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

Clinical Trial Summary

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.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT05325749
Study type Observational
Source Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
Contact Jekaterina Shubina, PhD
Phone +7 926 721-87-17
Email jekaterina.shubina@gmail.com
Status Recruiting
Phase
Start date July 10, 2021
Completion date December 2022
View Details
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