Whole Exome Screening of Newborns

NCT05325749 | Unknown

• 1 other identifier: Examen
• Study Type: observational
• Target: 7,000
• Locations: 1 country
• Sites: 1

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. 1.newborns without developmental features having no variations according to an inherited diseases screening;
2. 2.newborns showing either phenotypic features or deviations according to MS screening.

Conditions

Infant, Newborn

Keywords

newborn; whole exome; genetic screening

Outcome Measures

Primary Outcomes (4)

• Estimate 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.

  3-5 months

• Phenotype-associated variants

  Pathogenic, likely pathogenic variants or variants of uncertain significance corresponding to the observed clinical conditions

  2 weeks - 2 months

• Motivations for refuse to participate

  Questionnaire answers provided by families refused to enroll

  1 day

• Acceptance of advanced screening

  Questionnaire answers provided by families accepted screening for variants of low penetrance, no care available etc.

  1 day

Secondary Outcomes (3)

• Oncological risk

  1 day

• Cardiological risk

  1 day

• Recessive carriers

  1 day

Study Arms (6)

unaffected

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

Genetic: Screening; Genetic: Family history record; Other: Questionnaire survey

affected

newborns showing either phenotypic features or deviations according to MS screening

Genetic: Screening; Genetic: Family history record; Other: Questionnaire survey; Genetic: Diagnostic

refused families

parents refused to enroll their newborns to the study

Other: Questionnaire survey

unaffected born prematurely

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

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

unaffected wirh family history

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

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

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

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

Interventions

Screening GENETIC

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.

affected; unaffected; unaffected born prematurely; unaffected wirh family history; unaffected wirh prenatal phenotype

Family history record GENETIC

Families enrolled to the study will receive a genetic consult during which a family history will be taken concerning the inherited conditions.

affected; unaffected; unaffected born prematurely; unaffected wirh family history; unaffected wirh prenatal phenotype

Questionnaire survey OTHER

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; refused families; unaffected; unaffected born prematurely; unaffected wirh family history; unaffected wirh prenatal phenotype

Diagnostic GENETIC

The results of whole exome sequencing will be analysed according to the infant's phenotype in addition the the general screening pipeline

affected

Selective screening GENETIC

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 born prematurely; unaffected wirh family history; unaffected wirh prenatal phenotype

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All infants born in the RCOGP or under treatment in an ICU departmetn of the RCOGP

You may qualify if:

• 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

You may not qualify if:

• 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)
• Infants showing either phenotypic features or deviations according to MS screening
• Informed consent signed by a newborn's representative
• 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

Sponsors & Collaborators

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

Study Sites (1)

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

Moscow, 117997, Russia

RECRUITING

Related Publications (1)

• 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.

  PMID: 36833293 DERIVED

MeSH Terms

Interventions

Mass Screening; Surveys and Questionnaires

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis; Health Surveys; Data Collection; Epidemiologic Methods; Investigative Techniques; Diagnostic Services; Preventive Health Services; Health Services; Health Care Facilities Workforce and Services; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Public Health Practice

Study Officials

• Dmitriy Y Trofimov, DSc

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

  STUDY DIRECTOR

Central Study Contacts

Jekaterina Shubina, PhD

CONTACT

+7 926 721-87-17; jekaterina.shubina@gmail.com

Andrey A Bystritskiy, PhD

CONTACT

+7 903 722-10-34; andrey.bystritskiy@yandex.ru

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 5, 2022
• First Posted: April 13, 2022
• Study Start: July 10, 2021
• Primary Completion: December 1, 2022
• Study Completion: December 1, 2022
• Last Updated: April 13, 2022

Record last verified: 2021-12

Locations

RU (1)