article: Evaluation of the effect of combined otoacoustic emission and automatic auditory EEG response in neonatal hearing screening - Minerva Pediatrics 2022 April;74(2):239-41 - Minerva Medica - Journals

Objective To evaluate the audiological results of referral infants for failed secondary hearing screening.Methods The audiological results of 210 ears were analyzed.All the referral infants received audiological evaluationin cluding auditory brainstem response (ABR),auditory steady-state response (ASSR),distortion product otoacoustic emission(DPOAE),40 Hz auditory event-related potentials and acoustic impedance.Results Of all the 210 ears,143 were confirmed to have hearing loss with adetection rate of 68.10％ (143/210).Of the confirmed 143 ears,62 ears (43.36％) were conductive and 81 ears (56.64％) were sensorineural.Large vestibular aqueduct syndrome(LVAS) was diagnosed in 16 ears with an incidence of 7.62％ (16/210).Auditory neuropathy spectrum disorder was confirmed in 6 ears with an incidence of 2.85％ (6/210).Conclusions The detection rate of hearing loss is high in infants who have failed secondary hearing screening.We should pay more attention to carry out dynamic follow-up for hearing in infants with high risk factors.Accurate and comprehensive audiological evaluations should be conducted combined with the physiological characteristics of infants.

Objective:To investigate the effects of transient evoked otoacoustic emission (TEOAE) combined with automatic auditory brainstem response (AABR) in high risk newborns hearing screening.Methods:A total of 326 cases of high-risk newborn hearing were examined with TEOAE combined with AABR in NICU,children did not pass by hearing screening were examined with AI,OAE,ABR,40 Hz auditory event related potential(40 Hz AERP).Results:In 21 cases(28 ears) hearing impaired children,TEOAE combined with AABR discovered 16 ears,AABR discovered 18 ears and TEOAE discovered 10 ears.Conclusion:TEOAE combined with AABR in high-risk newborns is more beneficial to early detection of hearing impaired children.

目的 通过描述甘肃省2010-2016年产前筛查及产前诊断年报数据,了解目前甘肃省产前筛查及产前诊断的现况,为下一步产前筛查及产前诊断工作决策提供可行依据.方法 收集甘肃省妇幼卫生信息产前筛查与产前诊断工作调查年报表资料,采用Excel、SPSS19.0统计软件进行数据的统计描述,采用年估计变化百分比法(EAPC)来评价筛查率等指标的变化趋势.结果 2010-2016年甘肃省出生活产数为2 213 582人,产前筛查总人数为189 066人,总体筛查率为8.54％.2010-2016年甘肃省产前筛查率逐年上升(P＜0.05),提示7年内产前筛查率逐年上升(P＜0.05).2010-2016年甘肃省产前筛查阳性率也有所上升,但差异无统计学意义(P＞0.05).提示7年内产前筛查阳性率上升趋势不明显.2010-2016年甘肃省产前诊断总数为99 330人,产前诊断确诊数为2 501人,总体确诊率为2.52％.2010-2016年甘肃省产前诊断确诊率虽不稳定,提示7年内产前诊断确诊率变化趋势不明显.2010-2016年甘肃省唐氏综合征发生率4年顺位均排在第1位.唐氏综合征、神经管畸形、体表畸形及其他畸形的发生率比较,差异无统计学意义(P＞0.05),提示7年内唐氏综合征、神经管畸形、体表畸形及其他畸形发生率变化趋势不明显.结论 甘肃省产前筛查覆盖率持续上升,但总体水平还比较低.甘肃省产前筛查和产前诊断的阳性率与确诊率较稳定,筛查技术已达到国际要求.唐氏综合征筛查仍是甘肃省出生缺陷防治的重点工作,产前筛查和诊断工作任重而道远,尚需要不断的研究探索.

目的 了解甘肃省2010-2016年围生儿出生缺陷的现况,为甘肃省制定围生儿出生缺陷防控工作提供参考依据和理论指导.方法 收集甘肃省2010年10月1日-2016年9月30日出生的围生儿数据资料,采用EpiData 3.0进行数据的录入,运用Excel 2010、SPSS 19.0对数据进行整理和统计学分析.采用年估计变化百分比法(EAPC)来评价发生率的变化趋势.结果 甘肃省2010-2016年围生儿出生缺陷发生16 336例,平均发生率为74.16/万,经EAPC检验,7年内围生儿出生缺陷发生率逐年升高;围生儿出生缺陷发生顺位中,先天性心脏病发生率逐年升高,顺位连续3年排第1位,神经管畸形发生率逐年下降,其他畸形变化趋势不明显;甘肃省2016年围生儿出生缺陷发生3 153例,大多数的围生儿出生缺陷是通过超声和临床诊断的.在围生儿出生缺陷患儿中,男女比例相当,少数发生性别畸形,患儿体重＜4 000 9居多,大多数胎龄42周以下,患儿中单胎居多数,有一半患儿在出生前或者出生后死亡.2016年甘肃省围生儿出生缺陷患儿母亲年龄20 ～35岁居多,35岁以上占8.66％,超过一半孕妇怀孕2次以上,初中文化程度居多,农村户口妇女占67.94％,家庭人均收入2000～8000元占多数.围生儿出生缺陷母亲孕期有发热史占0.67％,有糖尿病史者占0.22％,围生儿出生缺陷母亲均无病毒感染史、无磺胺类药物服用史、无抗生素药物服用史、无避孕药物服用史、无镇静药物服用史、无饮酒史、无农药接触史、无射线接触史、无化学制剂接触史.结论 甘肃省围生儿出生缺陷发生率逐年升高,尤其是先天性心脏病在出生缺陷顺位中排第1位,应加强甘肃省围生儿出生缺陷防控工作,加大先天性心脏病的预防,进一步开展围生儿出生缺陷的影响因素研究,为完善围生儿出生缺陷三级预防提供可靠理论.

Objective:To investigate the hearing information for low months infants failing in auditory brainstem response (ABR).Methods:Twenty-one infants with totally 42 ears after screen failed,without ABR but normal 1000 Hz probe tone tympanometry results were studied.The evaluations of auditory steady state response(ASSR) and 40 Hz auditory event related potential (40 Hz-AERP) in twenty-one infants were tested.Results:The hearing thresholds were elicited by measurement of ASSR in 45.29％,61.90％,66.67％ and 80.95％ of the children at 500,1000,2000 and 4000 Hz.Prevalence of 40 Hz-AERP at 500 Hz was 52.38％.Conclusion:It is insufficient to evaluate the hearing of infants with ABR only,ASSR combine with 40 Hz-AERP may provide additional audiometric information for accurately evaluating the hearing.

目的:对151例听力筛查未通过的低月龄婴儿进行客观听力结果分析.方法:通过听性脑干反应(ABR),40 Hz听觉相关电位(40 Hz-AERP),多频稳态听觉诱发反应(ASSR),畸变产物耳声发射(DPOAE)、声导抗(AI)等检查对151例婴儿进行客观听力学评估.结果:151例低龄婴儿中双耳听力正常57例(37.7％);听力损失94例(62.3％).轻度听力损失24例(15.9％);中度8例(5.3％);重度4例(2.0％);极重度16例(10.6％).听力损失儿中复查率为21.2％.结论:不能配合主观行为测听的低月龄儿,用客观听力学检查可以评估听力水平,为听力损失儿的早期诊断干预提供依据.

Objective To retrospectively analyze the screening results of phenylketonuria(PKU ) among 567 691 neonates in Gansu Province to understand the prevalence situation of PKU and provide the basic data for preventing and treating PKU in Gansu Province .Methods 567 691 samples of neonatal dried heel blood spots were collected by Gansu Province Newborn Screening Cen‐ter from 2009 to 2014 and the phenylalanine (Phe) level was quantitatively determined by the fluorescence quantification method . The identification was performed by using the urine pterine profile analysis and phenylalanine hydroxylase(PAH) gene mutation de‐tection .Results Among 567 691 neonates ,166 neonates were diagnosed as PKU ,the total detection rate was 1/3 420 ,in which 119 cases (71 .7% ) were classic PKU ,33 cases (19 .9% ) were moderate PKU and 14 cases (8 .4% ) were mild PKU .Conclusion The morbidity rate of PKU in Gansu Province is much higher than the national average incidence level ,which is dominated by classic PKU .Therefore Gansu Province should become the major area of PKU prevention and treatment .

目的 调查和分析甘肃省新生儿疾病筛查现状,为进一步提高新生儿疾病筛查质量及干预措施提供依据.方法 按照卫生部《新生儿疾病筛查技术规范》进行新生儿足跟采血于特定滤纸上,通过邮政快递至省新生儿疾病筛查中心,进行先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)筛查.PKU采用时间分辨免疫荧光法检测苯丙氨酸(Phe)浓度,CH采用时间分辨免疫荧光分析法检测血促甲状腺素(TSH)浓度.结果 2010-2012年甘肃省共筛查867 431名新生儿,筛查率由2010年的55.52％提高到2012年的83.25％;可疑患儿召回率由2010年的49.37％提高到2012年的58.04％,CH可疑阳性患儿召回率高于PKU可疑阳性患儿召回率;确诊CH134名,发病率2.17/万,PKU患儿128名,发病率2.()7/万.结论 新生儿筛查是由多个单位参与、多环节的系统工程,提高筛查率的同时,需各部门协调配合提高筛查管理质量,从而更有效减少残疾儿的发生.

目的 通过对新生儿筛查和检测,了解甘肃地区高苯丙氨酸的发病情况和类型.方法 采集13 920例新生儿足跟末梢血,用荧光定量法检测干滤纸血片中的Phe浓度,并用尿蝶呤谱分析、四氢生物蝶呤负荷试验和PAH基因测序确诊和鉴别诊断可疑患者.结果 在13 920例新生儿中检出高苯丙氨酸血症6例,均诊断为苯丙酮尿症(PKU),未确诊四氢生物蝶呤(BH4)缺乏症,仅1例诊断为BH4反应性PKU.6例PKU患儿PAH基因部分外显子测序,检出6种基因突变.其中R243Q突变所占比例最高,其次是V399V、EX6-96A.结论 甘肃地区高苯氨酸血症发病率1/2 320,明显高于其他地区,早期诊断和鉴别诊断可以指导患儿的治疗.

目的探讨新生儿视网膜出血的发生原因.方法对我院新生儿科收治的各类患儿185例进行眼底检查,并对42例新生儿视网膜出血病例进行分析.结果新生儿视网膜出血检出率为22.7%.其中阴道分娩较剖腹产术分娩者检出率高,重度窒息较轻度窒息及非窒息新生儿高,其差异均有极显著统计学意义(P＜0.01);而轻度窒息与非窒息新生儿之间差异无显著性(P＞0.05).新生儿性别、胎次、胎龄、出生体重等与新生儿视网膜出血的发生无关.结论新生儿视网膜出血的发生与分娩方式有关,窒息是引起新生儿视网膜出血的一个不容忽视的原因,而且窒息程度与视网膜出血的发生密切相关.