Just one drop of heel blood is used to give a congenitally deaf child a new voice

Analysis of 10-year data on genetic screening for neonatal deafness in Peking Union Medical College Hospital

Newborn screening is the screening and diagnosis of some diseases in early infancy to avoid serious clinical consequences. It is an important measure to prevent and reduce birth defects.

In 2000, newborn hearing screening was included in the "Maternal and Child Health Care Law of the People's Republic of China", affirming the importance and necessity of newborn hearing screening.

At present, newborn hearing screening has been maturely applied nationwide, playing an important role in ensuring the auditory perception and speech development of infants and young children.

However, newborn hearing screening cannot detect the risk of late-onset, progressive deafness and drug-sensitive deafness, and cannot make an etiological diagnosis of hereditary deafness.

Genetic screening for deafness in newborns helps to identify individuals at high risk of hereditary deafness at an early stage and take targeted intervention measures at an early stage. It is a powerful supplement to newborn hearing screening, so combined genetic screening for deafness is imperative.

① From 2012 to 2022, Peking Union Medical College Hospital used the microarray chip method to perform deafness gene screening on 165,813 newborns, of which 8,019 failed the screening, with a screening positive rate of 4.84%. (Table 1)

Table 1 Results of newborn ear gene screening at Peking Union Medical College Hospital from 2012 to 2022

② In the newborn population, four deafness-susceptible mutation genes were found, and the order of gene mutation carrier rate from high to low was *GJB2, SLC26A4, GJB3, and *mitochondrial 12S rRNA. (Table 2)

Table 2 Carrying status of four common ear susceptibility gene mutations in 165 813 newborns in Peking Union Medical College Hospital from 2012 to 2022

③ Follow-up intervention for people at high risk of deafness.

Among the 8019 newborns who failed the genetic screening for deafness, there were 126 carriers of multiple mutations, accounting for 1.57% of the screening-positive newborn population. They were at high risk of deafness, and their families were followed up for hearing and provided with genetic outpatient counseling. (Table 3)

Table 3 Multiple mutations of four common ear susceptibility genes in 165 813 newborns in Peking Union Medical College Hospital from 2012 to 2022

Hearing aid fitting, cochlear implants and other intervention measures were given to 44 children with hereditary deafness genotypes and their families (Table 4) to delay and reduce the children's hearing loss.

Table 4 Hearing screening and follow-up intervention for newborns with genotypes in Peking Union Medical College Hospital from 2012 to 2022

In addition, for 405 cases with drug-sensitive deafness genotype, their family screening reports were accompanied by drug warning cards, and medication warnings were issued to maternal family members. Medication warnings can effectively prevent children from developing deafness caused by aminoglycosides.

It is particularly gratifying that in the 10 years since the Peking Union Medical College neonatal deafness genetic screening project was launched, with the joint efforts of laboratories, genetic clinics and maternal and child health institutions, the overall lost follow-up rate of the project has dropped from 0.63% to 0.07%, and the rate of visits to neonatal and family genetic counseling clinics has increased from 38.05% to 54.16%. Effective follow-up and genetic clinic visits can achieve the expected goals of the project and save a lot of medical rehabilitation expenses for society and individuals.

In short, over the past 10 years, the neonatal deafness gene screening project of Peking Union Medical College Hospital has continued to operate smoothly, completing about 160,000 newborn screenings with a low loss rate. The genetic clinic has provided genetic counseling, hearing follow-up and necessary hearing intervention diagnosis and treatment services to nearly 4,000 newborn families. At present, the screening, follow-up and consultation intervention platform operates efficiently and smoothly, and can effectively solve the needs of families with positive screening, fertility guidance, prognosis assessment, etc. It is believed that with the innovation of new-generation sequencing methods and genetic diagnosis technologies, relying on the current platform and standardized operation mode, the genetic screening capacity and screening scope of neonatal deafness will be further improved.

The theme of this article comes from the "Articles" column of "Journal of Peking Union Medical College" Issue 6, 2022: "10-year data analysis of genetic screening for neonatal deafness in Peking Union Medical College Hospital"

Original author: Gao Ruzhen, Fan Yue, Yang Tengyu, Li Dongdong, Guo Ying, Jiang Hong, Xu Yingchun, Chen Xiaowei

【References】

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Editor: Liu Yang and Zhao Na

Proofread by Li Na, Li Yule, and Dong Zhe

Producer: Wu Wenming

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