Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai

Plain English summary of protocol

Background and study aims
Xining City, Qinghai Province is located in a high-altitude hypoxic (low oxygen) area. Deafness is a common sensory disorder in newborns, and genetic factors are one of the main causes of congenital deafness. At present, there is a lack of large-scale and systematic research on the distribution of deafness-related genes in newborns in this specific high-altitude region. This study aims to fill this gap by using high-throughput sequencing technology to carry out large-scale deafness-related gene screening for newborns in Xining. The specific goals include: first, finding out the rate of newborns carrying deafness-related genes and the types of gene variations in the local area; second, providing targeted health education and clinical guidance for parents of children who may be at risk of deafness based on different gene characteristics, so as to achieve early diagnosis, early prevention and early intervention of deafness; third, providing scientific basic data for the research on prevention and treatment of deafness in Qinghai Province.

Who can participate?
The study recruits newborns of multiple ethnic groups living in different altitude areas of Qinghai Province. The specific inclusion criteria are:
1. Newborns born during the study period (March 2023 to March 2025)
2. Newborns whose families live in different altitude areas of Qinghai (including low-altitude, medium-altitude and high-altitude areas)
3. Newborns of various ethnic groups in Qinghai (such as Tibetan, Hui, Han, Salar, Tu, Mongolian, etc)
4. The guardians of the newborns have fully understood the purpose and process of the study and signed the informed consent form
5. The heel blood samples collected meet the quality requirements of the study (can be used for subsequent gene detection).

What does the study involve?
After the guardians of the newborns sign the informed consent form, the research team of the Affiliated Hospital of Qinghai University will collect a small amount of heel blood from the newborns. The collected heel blood will be made into dried blood spots for subsequent gene detection. Then, the research team will use high-throughput sequencing technology to detect common deafness-causing genes in these dried blood spot samples. After the detection is completed, the research team will analyze the detection data from multiple perspectives such as altitude, ethnicity and genotype. For newborns found to carry deafness susceptibility genes, the research team will provide targeted health education and clinical guidance to their parents, such as explaining the risk of deafness, suggesting follow-up observation and prevention measures.

What are the possible benefits and risks of participating?
Possible benefits:
1. For the participating newborns, if they carry deafness susceptibility genes, they can be found early through the study. Parents can obtain professional health education and clinical guidance in a timely manner, which helps to take preventive measures as early as possible and reduce the risk of deafness onset
2. The research results can provide a basis for the prevention and treatment of deafness in Qinghai Province and ultimately benefit more local families and newborns.
Possible risks:
1. The process of collecting heel blood may cause slight pain or temporary redness at the collection site for the newborn, but this discomfort will disappear quickly
2. There is a risk of personal information leakage in the research process, but the research team will strictly anonymize and encrypt all sample information and detection data to ensure the privacy of participants and will not disclose any personal information to third parties.

Where is the study run from?
Affiliated Hospital of Qinghai University (China)

When is the study starting and how long is it expected to run for?
March 2022 to December 2025

Who is funding the study?
Specific funding information of the study has not been provided yet and will be supplemented after confirmation. The study is funded by the Qinghai Provincial Department of Science and Technology (Project No.: 2023-SF-129) (China)

Who is the main contact?
Yi Wang, wegreatgroup@163.com

Contact information

Study information

Eligibility

Locations

Countries of recruitment

• China

Study participating centre

Results and Publications

Study outputs

Editorial Notes

31/10/2025: Study's existence confirmed by the Research Ethics Committee of Qinghai University Affiliated Hospital (REC).