Whole Exome Screening of Newborns
- Conditions
- Infant, Newborn
- Interventions
- Genetic: ScreeningGenetic: Family history recordOther: Questionnaire surveyGenetic: Selective screeningGenetic: Diagnostic
- 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
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 7000
- 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
- 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
- Arm && Interventions
Group Intervention Description unaffected Family history record newborns without developmental features having no variations according to an inherited diseases screening; unaffected born prematurely Screening newborns without specific developmental features having no variations according to an inherited diseases screening, born before term unaffected born prematurely Questionnaire survey newborns without specific developmental features having no variations according to an inherited diseases screening, born before term unaffected Questionnaire survey newborns without developmental features having no variations according to an inherited diseases screening; affected Family history record newborns showing either phenotypic features or deviations according to MS screening refused families Questionnaire survey parents refused to enroll their newborns to the study unaffected born prematurely Selective screening newborns without specific developmental features having no variations according to an inherited diseases screening, born before term unaffected born prematurely Family history record newborns without specific developmental features having no variations according to an inherited diseases screening, born before term unaffected wirh family history Screening newborns without developmental features having no variations according to an inherited diseases screening but with affected relative(s) unaffected wirh family history Questionnaire survey newborns without developmental features having no variations according to an inherited diseases screening but with affected relative(s) unaffected wirh family history Selective screening newborns without developmental features having no variations according to an inherited diseases screening but with affected relative(s) unaffected wirh prenatal phenotype Selective screening newborns without developmental features at birth and on, having no variations according to an inherited diseases screening which had been observed to show signs of developmental features during prenatal ultrasound examination unaffected Screening newborns without developmental features having no variations according to an inherited diseases screening; affected Screening newborns showing either phenotypic features or deviations according to MS screening unaffected wirh prenatal phenotype Family history record newborns without developmental features at birth and on, having no variations according to an inherited diseases screening which had been observed to show signs of developmental features during prenatal ultrasound examination affected Questionnaire survey newborns showing either phenotypic features or deviations according to MS screening affected Diagnostic newborns showing either phenotypic features or deviations according to MS screening unaffected wirh family history Family history record newborns without developmental features having no variations according to an inherited diseases screening but with affected relative(s) unaffected wirh prenatal phenotype Screening newborns without developmental features at birth and on, having no variations according to an inherited diseases screening which had been observed to show signs of developmental features during prenatal ultrasound examination unaffected wirh prenatal phenotype Questionnaire survey newborns without developmental features at birth and on, having no variations according to an inherited diseases screening which had been observed to show signs of developmental features during prenatal ultrasound examination
- 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