Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
7000 participants
OBSERVATIONAL
2021-07-10
2022-12-31
Brief Summary
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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.
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Detailed Description
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Conditions
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Study Design
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COHORT
CROSS_SECTIONAL
Study Groups
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unaffected
newborns without developmental features having no variations according to an inherited diseases screening;
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.
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.
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.
affected
newborns showing either phenotypic features or deviations according to MS screening
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.
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.
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.
Diagnostic
The results of whole exome sequencing will be analysed according to the infant's phenotype in addition the the general screening pipeline
refused families
parents refused to enroll their newborns to the study
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.
unaffected born prematurely
newborns without specific developmental features having no variations according to an inherited diseases screening, born before term
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.
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.
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.
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
unaffected wirh family history
newborns without developmental features having no variations according to an inherited diseases screening but with affected relative(s)
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.
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.
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.
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
unaffected wirh prenatal phenotype
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
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.
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.
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.
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
Interventions
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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.
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.
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.
Diagnostic
The results of whole exome sequencing will be analysed according to the infant's phenotype in addition the the general screening pipeline
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
Eligibility Criteria
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Inclusion Criteria
* Informed consent signed by a newborn's representative
* Infants showing either phenotypic features or deviations according to MS screening
* Informed consent signed by a newborn's representative
Exclusion Criteria
* 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)
* 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
ALL
Yes
Sponsors
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Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
OTHER_GOV
Responsible Party
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Principal Investigators
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Dmitriy Y Trofimov, DSc
Role: STUDY_DIRECTOR
Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
Locations
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Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
Moscow, , Russia
Countries
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Central Contacts
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Facility Contacts
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References
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Kochetkova TO, Maslennikov DN, Tolmacheva ER, Shubina J, Bolshakova AS, Suvorova DI, Degtyareva AV, Orlovskaya IV, Kuznetsova MV, Rachkova AA, Sukhikh GT, Rebrikov DV, Trofimov DY. De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. Genes (Basel). 2023 Jan 31;14(2):366. doi: 10.3390/genes14020366.
Other Identifiers
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Examen
Identifier Type: -
Identifier Source: org_study_id
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