NCT05325749

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 7,000 (estimated)
• Sponsor: Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare · Other Government
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

Conditions

• Infant, Newborn

Interventions

Type	Name	Description
GENETIC	Screening	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.
GENETIC	Family history record	Families enrolled to the study will receive a genetic consult during which a family history will be taken concerning the inherited conditions.
OTHER	Questionnaire survey	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.
GENETIC	Diagnostic	The results of whole exome sequencing will be analysed according to the infant's phenotype in addition the the general screening pipeline
GENETIC	Selective screening	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

Timeline

• Start date: 2021-07-10
• Primary completion: 2022-12-01
• Completion: 2022-12-01
• First posted: 2022-04-13
• Last updated: 2022-04-13

Locations

1 site across 1 country: Russia