Whole Exome Screening of Newborns

• Conditions: Infant, Newborn

• Registration Number: NCT05325749
• Lead Sponsor: Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-07-10
• Status Verified: 2021-12
• Study First Submitted: 2022-04-05
• Study First Submitted QC: 2022-04-05
• Last Update Submitted: 2022-04-05
• Study First Posted: 2022-04-13
• Last Update Posted: 2022-04-13
• Primary Completion: 2022-12
• Study Completion: 2022-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 7000

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Phenotype-associated variants	2 weeks - 2 months	Pathogenic, likely pathogenic variants or variants of uncertain significance corresponding to the observed clinical conditions
Motivations for refuse to participate	1 day	Questionnaire answers provided by families refused to enroll
Estimate the frequency of revealing patients carrying genotype associated with a monogenic disese.	3-5 months	The manifestation of pathogenic or likely pathogenic variants leading to a monogenic disease presenting during early age.; A genotype is considered having risk of developping a monogenic disease in case pathogenic or probably pathogenic variants are detected corresponding to the inheritance model.
Acceptance of advanced screening	1 day	Questionnaire answers provided by families accepted screening for variants of low penetrance, no care available etc.

Secondary Outcome Measures

Name	Time	Method
Oncological risk	1 day	Pathogenic or a likely pathogenic variant causing high risk of developping a cancer
Cardiological risk	1 day	Pathogenic or a likely pathogenic variant causing high risk of developping a cardiomyopathy or a sudden cardiac death
Recessive carriers	1 day	Inheritance of a pathogenic or a likely pathogenic variant causing to an autosomal recessive disease

Trial Locations

Locations (1)

Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare; 🇷🇺 Moscow, Russian Federation