2011-2018年超声在广东省出生缺陷诊断中的应用分析

目的通过分析广东省2011-2018年超声在出生缺陷确诊中运用,探讨影响超声诊断出生缺陷的灵敏度的相关因素。方法根据国家出生缺陷监测方案的方法要求,以监测医院为基础收集出生缺陷监测资料,对广东省监测医院的数据进行统计和分析,探索缺陷诊断方法的变化趋势。结果广东省57家出生缺陷监测医院2011-2018年共监测孕产妇208.85万例,检出缺陷儿到缺陷儿71099例,其中诊断依据为超声或超声联合其他诊断方法的有43908例,占61.76%,超声作为诊断依据其年度率的差异有统计学意义(χ^2=159.23,P<0.05)。超声诊断出生缺陷灵敏度较高的出生缺陷为:先天性心脏病,先天性脑积水,脑膨出,无脑畸形,先天性膈疝,脊柱裂,腹裂,联体双胎,水肿综合征,脐膨出。超声诊断灵敏度较低的10种出生缺陷为:外耳其他畸形(小耳、无耳除外),多指(趾),尿道下裂,并指(趾),小耳(含无耳),直肠肛门闭锁(含狭窄或无肛),唐氏综合征,马蹄内翻足,腭裂,唇裂。2011-2018年超声或超声联合其他诊断方法产前确诊缺陷儿23964例,产前超声确诊灵敏度最高的为13~27孕周组,为74.35%。结论超声诊断能够发现大部分胎儿结构畸形,但部分缺陷的产前超声确诊率较低,应尽可能使胎儿畸形筛查确诊提前,有助于预防严重畸形的晚期妊娠,提高出生质量。

Application of ultrasound in diagnosis of birth defects in Guangdong province from 2011 to 2018

Objective By analyzing the application of ultrasound in the diagnosis of birth defects in Guangdong Province from2011 to 2018,to explore the relevant factors affecting the sensitivity of ultrasound diagnosis of birth defects.Methods Data collection according to the national birth defects monitoring programme,statistics and analysis applied to explore the composition changing trend of birth defects diagnostic methods.Results From 2011 to 2018,a total of 208.85 million pregnant women were monitored in 57 birth defect monitoring hospitals in Guangdong Province,and 71099 defective infants were detected.Among them,43908 cases were diagnosed by ultrasound or ultrasound combined with other diagnostic methods,accounting for 61.76%.There was significant difference in the annual rate of ultrasound as the basis of diagnosis(χ^2=159.23,P<0.05).The birth defects with high sensibility of ultrasound diagnosis were congenital heart disease,congenital hydrocephalus,encephalocele,anencephalus,congenital diaphragmatic hernia,spina bifida,abdominal bifida,conjoined twins,edema syndrome,and umbilical cord swelling.The birth defects with lower sensibility of ultrasound diagnosis were:other malformations of external ear(except for small ear and no ear),multiple fingers(toes),hypospadias,and fingers(toes),small ears(including no ear),recto-anal atresia(including stenosis or anus),Down’s syndrome,equinovarus,cleft palate and cleft lip.The diagnostic criteria were ultrasound or ultrasound combined with other diagnostic methods in43908 cases,prenatal diagnosis in 23964 cases,and prenatal ultrasound in 13-27 gestational weeks group had the highest sensibility(74.35%).Conclusion Ultrasound diagnosis can find most fetal structural abnormalities,however,the prenatal ultrasound diagnosis rate of single defect is low.The screening and diagnosis of fetal malformations should be made in advance as far as possible,which is helpful to prevent in the late pregnancy with severe malformation and improve the quality of birth.