CAJ | 학술논문

目的：探讨产前超声诊断胎儿结构畸形的价值。方法对2010年1月至2014年6月于唐山市妇幼保健院进行产前超声检查、诊断并经引产或出生后证实的3101例患儿和漏诊的856例患儿的临床资料进行回顾性分析，记录超声检出及漏诊胎儿结构畸形种类和数量，计算超声检查胎儿结构畸形的检出率、漏诊率，并分析漏诊原因。结果产前超声检出胎儿结构畸形3101例（4171处畸形），检出率为11.51‰（3101/269501）。超声漏诊856例（947处畸形），漏诊率为3.18‰（856/269501）。胎儿结构畸形发生率为14.68‰（3957/269501）。按解剖系统分类，超声检出的胎儿结构畸形居前5位的依次为心血管系统（851例）、中枢神经系统（691例）、颜面部（562例）、泌尿系统（476例）及呼吸系统（134例）。超声检出的胎儿结构畸形居前5位的依次为唇腭裂（549例）、室间隔缺损（519例）、肾积水（331例）、脊柱裂（212例）、心内膜垫缺损等（163例）。超声漏诊的前5位胎儿结构畸形依次为多、并指（趾）（285例）、耳畸形（108例）、尿道下裂（93例）、足异常（92例）、室间隔缺损（52例）。结论产前超声对胎儿结构畸形有较高的检出率，但其对多、并指（趾）、耳畸形、尿道下裂等畸形漏诊率高。
목적：탐토산전초성진단태인결구기형적개치。방법대2010년1월지2014년6월우당산시부유보건원진행산전초성검사、진단병경인산혹출생후증실적3101례환인화루진적856례환인적림상자료진행회고성분석，기록초성검출급루진태인결구기형충류화수량，계산초성검사태인결구기형적검출솔、루진솔，병분석루진원인。결과산전초성검출태인결구기형3101례（4171처기형），검출솔위11.51‰（3101/269501）。초성루진856례（947처기형），루진솔위3.18‰（856/269501）。태인결구기형발생솔위14.68‰（3957/269501）。안해부계통분류，초성검출적태인결구기형거전5위적의차위심혈관계통（851례）、중추신경계통（691례）、안면부（562례）、비뇨계통（476례）급호흡계통（134례）。초성검출적태인결구기형거전5위적의차위진악렬（549례）、실간격결손（519례）、신적수（331례）、척주렬（212례）、심내막점결손등（163례）。초성루진적전5위태인결구기형의차위다、병지（지）（285례）、이기형（108례）、뇨도하렬（93례）、족이상（92례）、실간격결손（52례）。결론산전초성대태인결구기형유교고적검출솔，단기대다、병지（지）、이기형、뇨도하렬등기형루진솔고。
Objective To investigate the diagnostic value of prenatal ultrasound for fetal structural abnormalities.Methods The clinical data of 3 101 fetus with structural malformations, diagnosed by prenatal ultrasound and confi rmed after induced labor, and 856 cases of missed diagnosis were analyzed. All these data were collected in Maternal and Child Health Hospital of Tangshan City from January 2010 to June 2014. The types and number of fetal structural abnormalities were recorded. The rates of detection and missed diagnosis for the fetal structural abnormalities were calculated and the reasons for missed diagnosis were analyzed.ResultsA total of 3101 cases (4 171 positions) were diagnosed as fetal structural abnormalities by prenatal ultrasound. The detection rate was 11.51‰ (3 101/269 501). There were 856 cases (947 positions) of fetal structural abnormalities were missed, and the missed diagnosis rate was 3.18‰ (856/269 501). The incidence of fetal structural abmormalities was 14.68‰ (3 957/269 501). In terms of anatomy systems, the top five were cardiovascular system abnormalities (851 cases), the central nervous system abnormalities (691 cases), facial abnormalities (562 cases), urinary system abnormalities (476 cases), and respiratory system abnormalities (134 cases). In terms of single abnormalities, the top five were cleft lip and palate (549 cases), ventricular septal defect (519 cases), hydronephrosis (331 cases), spina bifi da (212 cases), and atrial-ventricular septal defect (163 cases). The top five of missed deformities were polydactylia/symphysodactylia (285 cases), ear deformities (108 cases), hypospadias (93 cases), foot abnormalities (92cases), and ventricular septal defect (52 cases).Conclusions There is a high detection rate for fetal structural abnormalities with prenatal ultrasound. Prenatal ultrasound is an indispensable means for the diagnosis of fetal malformation, but it also has some limitations. There is a high rate of missed diagnosis for polydactylia/symphysodactylia, microtia, and hypospadias.