Table 2.

Guidelines, technical specifications, and expert consensuses on newborn hearing screening in China.

Stage	Year	Title	Main recommendations
Past	2004	Technical Specification for Newborn Hearing Screening (9)	1.A two-stage screening process is implemented by OAEs or AABRs: those who fail the initial screening before discharge from the hospital are rescreened within 42 days and referred to a hearing testing center. 2.Newborns with high-risk factors in conjunction with auditory behavior observations should be followed up every 6 months for 3 years even if they pass the screening test.
Present	2010	Technical Specification for Newborn Hearing Screening (2010 Edition, No. 96) (11)	1.Normal newborns are screened in two stages: 48 h after birth and before discharge. Those who fail and those who miss screening should be rescreened within 42 days. Those who do not pass the rescreening test should be referred for hearing diagnosis within 3 months. 2.For NICU newborns, the infant should be screened by AABRs before discharge. Those who fail will be referred directly for hearing diagnosis. 3.Newborns with risk factors for hearing loss, even if they pass the newborn hearing screening test, should be followed up at least once a year for 3 years.
	2013	Technical Specification for Children's Ear and Hearing Care (12)	1.After hearing screening in the neonatal period, children aged 0–6 years are managed in the healthcare system. 2.Ear and hearing care is provided in conjunction with health screening. 3.The priority ages for hearing screening are 6, 12, 24, and 36 months of age.
	2018	Guideline for the Early Diagnostic Evaluation and Intervention of Hearing Loss in Infants (45)	Normal range of hearing: 1.Normal tympanogram on the conductance test (including 1,000 Hz sound detection). 2.V-wave response threshold of ≤35 dB nHL on the click sound ABR test. 3.The amplitude of each frequency of DPOAEs is within the normal range, and the signal-to-noise ratio is ≥6 dB. The correlation coefficients of TEOAEs are greater than 50% for each frequency band and greater than 70% for the total correlation coefficient. 4.Hearing threshold of behavioral hearing assessment is in the normal range.
	2020	Clinical Practice Guidelines for Hereditary Non-syndromic Deafness (80)	1.Up to September 2018, 110 genes related to non-syndromic deafness have been identified, including 45 genes related to DFNA, 70 genes related to DFNB, 10 genes related to both DFNA and DFNB, and 5 genes related to DFNX. 2.China Deafness Genetic Research Consortium (http://cdgc.eargene.org) is recommended as a starting query for Chinese or East Asian deafness cases.
	2021	Genetic Deafness Screening Specification (73)	1.Newborns: All newborns aged 3 days after the completion of heel blood or cord blood collection. 2. Individuals with normal hearing, including those with a requirement for marriage and childbirth. • Deafness genetic screening is recommended before marriage, pregnancy, or early pregnancy. It is recommended that couples undergo screening at the same time and subsequent genetic diagnosis as necessary to improve the accuracy and efficiency of screening or diagnosis. 3.Deaf patients: It is recommended that deaf patients undergo direct genetic diagnosis of deafness rather than genetic screening.
	2022	Chinese Clinical Practice Guideline of Auditory Neuropathy (version 2022) (43)	1.Newborns in the NICU should first undergo AABR screening. 2. Diagnostic criteria for infantile auditory neuropathy: • Children <3 years of age who often pass the newborn hearing screening (OAEs), rescreening, and diagnostic OAE tests are normal, and CM can be elicited normally, but the ABR often shows a waveform with no significant differentiation or severe abnormalities. Genetic diagnosis may reveal pathogenic genetic variants, but the imaging examination does not suggest posterior cochlear lesions or abnormal auditory nerve development.
	2023	Clinical Practice Guideline for the Genetic Diagnosis and Counseling of Hearing Loss in China (2023) (79)	1.Deafness genetic diagnosis is indicated for patients with congenital deafness, delayed deafness, syndromic deafness, normal hearing with a family history of deafness, and unsuccessful deafness genetic screening results. 2.Methods of genetic deafness diagnosis include gene chip, Sanger sequencing, targeted deafness gene next-generation sequencing, whole-exome sequencing, and whole gene sequencing. 3.For hereditary deafness with a clear phenotype and genotype, specific genes can be tested. For hereditary deafness with an unclear phenotype and genotype, “Definitive” or “Strong” genes can be tested and evaluated by ClinGen as a priority. 4.For detected variants, pathogenicity should be interpreted according to the ACMG classification criteria.
Future	2019	Guidelines for Screening and Clinical Intervention for Congenital Cytomegalovirus Infection (107)	1.There should be universal newborn HCMV screening for the early detection of congenital HCMV infection in infants. 2.Congenital HCMV infection is diagnosed by detecting the HCMV-DNA content of saliva or urine samples from newborns within 2 weeks after birth.
	2021	National Occupational Skills Standards for Birth Defects Prevention and Control Counselors (2021 Edition)	Target population: Counselors are engaged in birth defect prevention and control publicity, education, counseling, guidance, and providing birth defect occurrence risk evidence-based information, genetic counseling, solution recommendations, prevention and control management services, and rehabilitation counseling.

ABR, auditory brainstem response; DFNA, autosomal dominant deafness; DFNB, autosomal recessive deafness; DFNX, X-linked deafness; CM, cochlear microphonic; ACMG, American College of Medical Genetics and Genomics; nHL: normal hearing level.