11～13^＋6周胎儿系统超声检查早期诊断胎儿畸形的初步研究

Preliminary study on fetal ultrasonic examination during 11-13＋6 gestational weeks in early diagnosis of fetal malformation

目的 早孕期超声全面观察胎儿发育情况,探讨11 ～ 13^＋6周胎儿系统超声检查早期诊断胎儿畸形的临床价值.方法 本研究在2328例孕11 ～ 13^＋6周孕妇开展了胎儿系统超声检查,全面筛查胎儿大脑、骨骼、心血管系统、神经系统及泌尿系统等各系统畸形,追踪胎儿引产后情况、中晚孕超声情况及新生儿情况,综合分析早孕期超声检查的临床意义.结果 胎儿畸形总例数为105例,发生率为4.51％,早孕期超声检出例数50例,检出率为47.61％.除了消化系统、呼吸系统、泌尿系统畸形没有检出外,其他胎儿畸形在早孕期超声检查中均有发现.心血管异常、神经系统异常、骨骼四肢异常、颜面部畸形、前腹壁畸形、颈部NT增厚及颈部水囊瘤和多胎特有畸形（无心序列）早孕期检出率分别为8.00％、72.70％、73.33％、33.33％、75.00％、100.00％和100.00％.早孕期超声检查胎儿畸形的特异性达到100.00％.结论 11～ 13^＋6周胎儿系统超声检查有助于胎儿严重畸形的早期发现,建立早孕期胎儿系统超声检查技术标准,开展规范化培训将对优生优育具有重要意义.

Objective To evaluate the clinical implication of fetal ultrasonic examination during 11-13^＋6 gestational weeks in early diagnosis of fetal malformation.Methods Ultrasonic examinations were carried out in 2328 pregnant women who were on the 11-13^＋6 gestational weeks pregnant period to investigate the fetal malformation of brain,bone,cardiovascular system,nervous system,urinary system and so on.We also tracked the fetus situation after induced labor,situation of middle-late pregnancy ultrasound and newborn babies.After all,the clinical significance of ultrasonic examination was evaluated.Results The total cases number of fetal malformation was 105,the incidence rate was 4.51%.50 cases were detected by the present ultrasound examination during 11-13^＋6 gestational weeks,the sensitivity rate of the present study was 47.61%.Except for the abnormality of digestive system,respiratory system and urinary system,other fetal malformations were found in the present ultrasound examination.The detection rates of cardiovascular abnormalities,nervous system abnormalities,skeletal limb abnormalities,facial deformity,anterior abdominal wall defects,carotid NT thickening and cystic hygroma and multiple malformations （a unique sequence） were 8%,72.70%,73.33%,33.33%,75%,100% and 100% respectively.The specificity of early pregnancy ultrasound examination for fetal malformation reached 100%.Conclusion 11-13^＋6 gestational weeks fetal ultrasound examination is helpful to the early diagnosis of fetal malformation.Building pregnancy ultrasound technological standard,carrying out standardized training will be of great significance in eugenics.