How do you combine newborn hearing genes for screening?

Newborn hearing screening refers to the national statutory requirement that babies have their first hearing test completed within three days of birth to determine whether they have a hearing impairment. This is an important step towards early intervention and prevention of disability due to deafness. However, newborn hearing screening alone may miss some late-onset cases and drug-sensitive gene carriers. Combined newborn hearing and genetic screening can make up for the inability of newborn hearing screening alone to detect late-onset deafness and drug-sensitive deafness, and has become the most effective early diagnosis of newborn deafness and prevention and control measures. Newborn hearing screening can be divided into three steps: initial screening, re-screening and follow-up. Initial screening means that for newborns who are born normally, hearing screening should be conducted at bedside by professionals using a screening instrument 48-72 hours after birth; re-screening means that all babies who do not pass the initial screening and have high risk factors for hearing impairment should be re-screened 42 days after birth; follow-up means that for infants and young children who do not pass the re-screening or who have passed the re-screening but whose parents have found abnormalities of hearing or speech, should be screened by professionals within The follow-up is for infants and children who do not pass the re-screening or who pass the re-screening but whose parents find hearing or speech abnormalities, they should go to a professional hearing diagnostic center to receive audiological evaluation 3 months after birth. Genetic screening is a newborn cord blood or heel blood collection performed at birth or within 3 days of birth to screen for susceptibility to deafness and common genes. The results of a hearing screening test are usually expressed as “pass” or “fail”. A “pass” means that the baby’s cochlea is functioning normally, but a “fail A “pass” means that the baby’s cochlea is functioning normally, but a “fail” does not necessarily mean that the baby has a hearing impairment. Factors in the outer and middle ear, such as excess amniotic fluid, fetal fat and bloody residue in the external auditory canal, may affect the result of the screening and lead to a “fail”, but “fail” results should be taken seriously by the parents. However, the “failed” result should be taken seriously by the parents, and a re-screening should be done in time. If the baby still fails, it means that the baby has a hearing problem, but the baby still hears sounds, only the size of the sounds is different. Most babies’ hearing impairment is due to middle ear conduction factors, and their hearing impairment is mostly mild to moderate and reversible. However, for those with neurological or mixed hearing loss, hearing impairment does not mean that the baby can’t hear sounds at all, but rather that he or she can’t hear certain frequencies or sounds of relatively low intensity. It is hypothesized that there may be more than 400 genes associated with deafness, but there are three common susceptibility genes: these include the mitochondrial 12SrRNA1555A>G and 1494C>T mutations, the SLC26A4 gene mutation, and the GJB2 gene mutation. Individuals carrying mitochondrial 1555 or 1494 are unusually sensitive to aminoglycosides (e.g., gentamicin, streptomycin, kanamycin, and butamidocarbamycin, etc.), and a very small amount of the measurement can usually result in the appearance of deafness, which is often referred to as “a shot to deafness,” and the younger the patient is, the more severe the effect on the hearing, and the more severe the impact on the hearing, and the more the patient’s life-long hearing is affected. The younger the patient, the more severe the effect on hearing, and once detected, the patient should be instructed to avoid exposure to this drug for life. Individuals with SLC26A4 often exhibit progressive or fluctuating hearing loss. Ultimately, they can develop into profound deafness, such as the patients with large vestibular aqueduct syndrome, which is characterized by normal hearing at birth and fluctuating hearing loss under the stimulation of certain factors during the growth process, with triggering factors such as colds, fever, strenuous exercise, and head trauma, etc. Once detected, the occurrence of deafness can be avoided or slowed down through preventive guidance to parents. Individuals who carry GJB2, which manifests as extremely severe prespeech sensorineural deafness or progressive hearing loss, should avoid choosing a spouse who has the same deafness gene mutation as they do once they are diagnosed, so as to effectively reduce the risk of giving birth to a deaf child.The prevalence of disease-causing mutations of the GJB2 and SLC26A4 genes in the Chinese normal-hearing population is not low, simply because of the fact that they carry only one disease-causing gene and the other one has compensatory effects. The prevalence of GJB2 and SLC26A4 genes in the normal hearing population in China is not low, but because you only carry one of the pathogenic genes, the other gene is compensated for, and thus does not show deafness. To summarize, simple newborn hearing screening can no longer adapt to the current needs, because not all hearing impairment will be manifested immediately after birth, only the newborn hearing screening will miss the delayed deafness, drug susceptibility deafness and some congenital deafness of children, for these patients if we can know in advance, some of them can be completely avoided deafness, and some of them, even if we can not avoid deafness, but strengthen the hearing screening program. Even if we cannot avoid the occurrence of deafness in some cases, close observation and early intervention for these progressively deaf children can significantly improve their speech development. Therefore, on the basis of newborn hearing screening, combined with genetic screening, it is of great significance for the early detection, early intervention and early treatment of deaf children.