Cohort Of DEafness-gene Screening (CODES)

Affiliated Hospital of Nantong University

Status: Active, not recruiting

Conditions: Hearing Loss

Treatments: Genetic: Genetic screening test (Deafness gene variant detection array kit)

Study type: Observational

Funder types: Other

Identifiers

NCT06133946

BE2015655

Details and patient eligibility

About

This study was based on a concurrent newborn genetic and hearing screening program in Nantong city. From January 2016 to December 2020, newborn infants were recruited and received combined screening for free, funded in part by the municipal government and research project foundations. The population-based longitudinal databank for all children with hearing loss in Nantong city commenced in January 2016 and maintained indefinite recruitment and ongoing follow-up.

Full description

The severity of hearing loss was graded as mild (26-40 dB), moderate (41-60 dB), severe (61-80 dB), and profound (≥81 dB).

Genomic DNA was extracted by a blood filter paper nucleic acid extraction kit (CapitalBio, Beijing, China) and tested using a deafness gene variant detection array kit (CapitalBio, Beijing, China) with LuxScan 10K-B Microarray Scanner (CapitalBio, Beijing, China). The genetic screening entailed genotyping 15 variants in 4 genes: c.35delG, c.176_191del16, c.235delC, c.299_300delAT (GJB2 gene); c.1174A>T, c.1226G>A, c.1229C>T, c.1975G>C, c.2027T>A, c.2168A>G, c.IVS7-2A>G, c.IVS15 + 5G>A (SLC26A4 gene); m.1494C>T, m.1555A>G (MT-RNR1 gene); c.538C>T (GJB3 gene). The results were categorized as (1) negative, (2) carrier (GJB2 or SLC26A4, heterozygous mutations; MT-RNR1 mutations; GJB3 mutations; or heterozygous mutations in multiple genes), and (3) refer (GJB2 or SLC26A4, homozygous or compound heterozygous mutations).

This study was approved by the ethics committees of Nantong municipal Health Commission and all hospitals involved. Written informed consent was obtained from the infant's parents.

This study followed the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) reporting guideline for cohort studies.

Enrollment: 35,920 patients

Sex: All

Ages: 3 days to 1 week old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. The infants were born between January 2016 and December 2020;
2. The infants' health condition was good enough to tolerate the screening procedures;
3. The parents were urban residents of Nantong city;
4. The parents agreed to have their babies participating in the combined hearing and genetic screening program.

Exclusion criteria

1. The infants' blood samples were unqualified for the genetic tests according to criteria of the National Health Commission of China's technical specification for neonatal screening of congenital diseases;
2. The infants were lost to follow-up.

Trial design

35,920 participants in 1 patient group

Combined screening

Description:

All newborns underwent combined hearing and genetic screening.

Treatment:

Genetic: Genetic screening test (Deafness gene variant detection array kit)