Whole Exome Screening of Newborns

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

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

Sponsors & Collaborators

• Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare

  lead OTHER_GOV

Principal Investigators

• Dmitriy Y Trofimov, DSc · Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2021-07-10

Primary Completion

2022-12-31

Completion

2022-12-31

Countries

• Russia

Study Locations