规范性超声筛查孕11～13^(+6)周胎儿结构异常的临床诊断价值

Clinical diagnostic value of normative ultrasound screening for fetal structural abnormalities during 11-13^(+6) gestational weeks

目的探讨规范性超声筛查对孕早期(11~13^(+6)周)胎儿结构异常的临床诊断价值。方法选取2014年2月-2016年9月在该院超声科行孕11~13^(+6)周规范性超声筛查的1 728例孕妇作为研究对象,对超声筛查检测结果进行分析,记录超声筛查后胎儿结构异常的检出情况以及各系统结构异常分布,并观察追踪其妊娠结局。结果经最终病理学诊断,1 728例孕妇(1 783例胎儿)中共明确胎儿结构异常81例,发生率为4.54%(81/1 783)。规范性超声筛查共确诊32例,胎儿结构异常检出率为39.51%(32/81)。在颈部水囊瘤及NT增厚、双胎特有结构异常上,孕早期行规范性超声筛查的检出率均为100.00%;骨骼四肢异常、神经系统异常的检出率为50.00%;心血管异常及泌尿系统异常的检出率较低,分别为9.52%、8.33%。孕早期超声筛查确诊的32例结构异常胎儿中,8例接受绒毛膜穿刺或羊水穿刺检查,核型分析结果显示,正常3例,21-三体综合征2例,18-三体综合征3例。最终28例选择终止妊娠,其余4例在随后的超声复查中未发现异常,正常出生,出生后8周随访未见异常。结论孕早期行规范性超声筛查能够检出部分严重、早期发生的胎儿结构异常,以便及早终止妊娠,有效减少结构异常胎儿的出生,但并不能完全替代孕中期超声筛查。

Objective To explore the clinical diagnostic value of normative ultrasound screening for fetal structural abnormalities during 11-13＋6 gestational weeks.Methods A total of 1 728 pregnant women receiving normative ultrasound screening during 11-13＋6 gestational weeks in Department of Ultrasound in the hospital from February 2014 to September 2016 were selected,the screening results were analyzed,the detection rates of fetal structural abnormalities and distributions of structural abnormalities of various systems were recorded,the pregnancy outcomes were observed and followed up.Results After final pathological diagnosis,81 cases were identified with fetal structural abnormalities in 1 728 pregnant women （1 783 fetuses）,the incidence rate was 4.54% （81/1 783）.Thirty-two cases were diagnosed definitely by normative ultrasound screening,the detection rate of fetal structural abnormalities was 39.51% （32/81）.The detection rates of normative ultrasound screening for hygroma colli,NT thickening,and twin specific normative abnormalities were all 100.00%;the detection rates of normative ultrasound screening for skeletal limb abnormalities and nervous system abnormalities were all 50.00%;the detection rates of normative ultrasound screening for cardiovascular abnormalities and urinary system abnormalities were 9.52% and 8.33%,respectively.Among 32 cases of structural abnormalities diagnosed definitely by normative ultrasound screening,8 cases underwent amniocentesis or amniotic fluid puncture,karyotype analysis showed that 3 cases were normal,2 cases were trisomy 21 syndrome,and 3 cases were 18 trisomy syndrome.Finally,28 cases chose termination of pregnancy,the other 4 cases were normal in subsequent ultrasound examination,then the neonates were born normally,no abnormalities were observed after 8 weeks.Conclusion Normative ultrasound screening during early pregnancy can detect some severe and early fetal structural abnormalities to terminate pregnancy as soon as possible and effectively reduce the birth of fetuses with structural abnormalities.However,it can not completely replace ultrasound screening during the second trimester of pregnancy.