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.
Study Type
OBSERVATIONAL
Enrollment
7,000
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.
Families enrolled to the study will receive a genetic consult during which a family history will be taken concerning the inherited conditions.
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.
The results of whole exome sequencing will be analysed according to the infant's phenotype in addition the the general screening pipeline
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
Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
Moscow, Russia
RECRUITINGEstimate the frequency of revealing patients carrying genotype associated with a monogenic disese.
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.
Time frame: 3-5 months
Phenotype-associated variants
Pathogenic, likely pathogenic variants or variants of uncertain significance corresponding to the observed clinical conditions
Time frame: 2 weeks - 2 months
Motivations for refuse to participate
Questionnaire answers provided by families refused to enroll
Time frame: 1 day
Acceptance of advanced screening
Questionnaire answers provided by families accepted screening for variants of low penetrance, no care available etc.
Time frame: 1 day
Oncological risk
Pathogenic or a likely pathogenic variant causing high risk of developping a cancer
Time frame: 1 day
Cardiological risk
Pathogenic or a likely pathogenic variant causing high risk of developping a cardiomyopathy or a sudden cardiac death
Time frame: 1 day
Recessive carriers
Inheritance of a pathogenic or a likely pathogenic variant causing to an autosomal recessive disease
Time frame: 1 day
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