长沙市新生儿听力和聋病易感基因联合筛查的临床分析

目的 探讨长沙市新生儿听力和聋病易感基因联合筛查的可行性和必要性。方法 对2017年5—12月出生长沙市妇幼保健院的5 526例新生儿进行听力与聋病易感基因的同步筛查。对未通过复筛和（或）聋病易感基因筛查的新生儿进行电话随访，指导其在3月龄内进行听力学和遗传学诊断及干预。结果 5 526例新生儿接受了听力与聋病易感基因的同步筛查，聋病易感基因筛查未通过率4.23%（234/5 526），听力初筛未通过率12.07%（667/5 526），听力初筛未通过的新生儿中聋病易感基因筛查未通过率15.44%（103/667）高于听力筛查通过者2.69%（131/4 859）（P<0.000）。234例耳聋基因突变中，GJB2 235delC纯合突变4例，SLC26A4 2168 A>G纯合突变1例。GJB2基因突变最常见2.55%（141/5 526），其次是SLC26A4基因突变1.21%（67/5 526），MTRNR1基因突变0.36%（20/5 526），GJB3基因突变0.11%（6/5 526）。最常见的突变为GJB2 235del C杂合突变和SLC26A4 IVS 7-2A>G杂合突变。对107例听力复筛未通过的患儿在3月龄时进行了听力学诊断，确诊感音神经性听力损失14例（23耳），随访8耳佩戴助听器，4耳人工耳蜗植入。结论 聋病易感基因和听力筛查未通过的互为随访的高危人群，新生儿听力和聋病易感基因联合筛查可行性强，相互裨益，是目前最佳的防聋筛查模式。

Correlation analysis of combined hearing screening and deafness susceptibility genes screening for newborn in Changsha

Objective To explore the feasibility and necessity of combined hearing screening and deafness susceptibility genes in newborns.Methods From May 2017 to Dec 2017, 5526 newborns from Maternal and Child Health Hospital of Changsha were screened by simultaneous screening of deafness susceptibility genes and hearing. Newborns who did not pass hearing rescreening and/or genetic screening for deafness disease were followed up by telephone to guide their audiological and genetic diagnosis and intervention within 3 months of age.Results A total of 5526 newborns received combined hearing and deaf disease susceptibility genetic screenings. The failure rate of deaf disease susceptibility genetic screening was 4.23% (234/5526) and that of preliminary hearing screening was 12.07% (667/5526). The rate of deaf disease susceptibility genetic screening failure among the newborns who failed the hearing screening(15.44%, 103/667) was higher than that among those passing the hearing screening(2.69%, 131/4859) (P<0.000). Among the 234 newborns who failed the deaf disease susceptibility genetic screening, GJB2 235 homozygous mutation was found in 4 cases, and SLC26A4 2168 A>G homozygous mutation in one. GJB2 gene mutations were the most commonly seen (2.55%, 141/5526), followed by SLC26A4 gene mutations (1.21%, 67/5526), MTRNR1 gene mutations (0.36%, 20/5526), and GJB3 gene mutations (0.11%, 6/5526). The most common mutations were GJB2 235delC heterozygous mutation and SLC26A4 IVS 7-2 A>G heterozygous mutation. At the age of 3 months, 14 newborns (23 ears) from 107 of hearing screening failure were diagnosed sensorineural hearing loss. Follow-up intervention included hearing aid for 8 ears and cochlear implantation for 4 ears.Conclusions For follow-up high-risk groups with deafness susceptibility genes and hearing screening failure,combined screening of hearing and deafness susceptibility genes in neonates is feasible and mutually beneficial. The combined screening is the best screening model for preventing deafness.