Whole Exome Screening of Newborns

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

Status: Enrolling

Conditions: Infant, Newborn

Treatments: Genetic: Diagnostic; Genetic: Screening; Other: Questionnaire survey; Genetic: Selective screening; Genetic: Family history record

Study type: Observational

Funder types: Other

Identifiers

NCT05325749

Examen

Details and patient eligibility

About

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.

Enrollment: 7,000 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

Group 1 (newborns without features):

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

Trial design

7,000 participants in 6 patient groups

unaffected

Description:

newborns without developmental features having no variations according to an inherited diseases screening;

Treatment:

Genetic: Family history record

Other: Questionnaire survey

Genetic: Screening

affected

Description:

newborns showing either phenotypic features or deviations according to MS screening

Treatment:

Genetic: Family history record

Other: Questionnaire survey

Genetic: Screening

Genetic: Diagnostic

refused families

Description:

parents refused to enroll their newborns to the study

Treatment:

Other: Questionnaire survey

unaffected born prematurely

Description:

newborns without specific developmental features having no variations according to an inherited diseases screening, born before term

Treatment:

Genetic: Family history record

Genetic: Selective screening

Other: Questionnaire survey

Genetic: Screening

unaffected wirh family history

Description:

newborns without developmental features having no variations according to an inherited diseases screening but with affected relative(s)

Treatment:

Genetic: Family history record

Genetic: Selective screening

Other: Questionnaire survey

Genetic: Screening

unaffected wirh prenatal phenotype

Description:

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

Treatment:

Genetic: Family history record

Genetic: Selective screening

Other: Questionnaire survey

Genetic: Screening