Cohort of Universal Newborn Deafness-gene Screening in Nantong City, China
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 35,920
- 主要终点
- Diagnosis of hearing loss at age of 3 months
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Days 至 1 Week（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The infants were born between January 2016 and December 2020;
- •The infants' health condition was good enough to tolerate the screening procedures;
- •The parents were urban residents of Nantong city;
- •The parents agreed to have their babies participating in the combined hearing and genetic screening program.
排除标准
- •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;
- •The infants were lost to follow-up.
结局指标
主要结局
Diagnosis of hearing loss at age of 3 months
时间窗: From Jan 1, 2016 to Mar 31, 2021
Diagnosis of HL was confirmed by hearing diagnostic tests (ABR+ASSR) at age of 3 months. Auditory steady-state response (ASSR) were used as an alternative and adjunct to the auditory brainstem response (ABR) for threshold estimation.
次要结局
- Language ability of HL children at ages of 5 years and 8 years(From Jan 1, 2021 to Dec 31, 2028)
- Receptive vocabulary of HL children at ages of 5 years and 8 years(From Jan 1, 2021 to Dec 31, 2028)
- Non-verbal IQ of HL children at ages of 5 years and 8 years(From Jan 1, 2021 to Dec 31, 2028)
研究者
Gang Qin, MD, PhD
Associate Professor
Affiliated Hospital of Nantong University