孕11~13+6周超声筛查胎儿结构畸形的临床价值

目的总结孕11~13⁺⁶周胎儿结构畸形超声声像图特征，探讨孕11~13⁺⁶周胎儿超声规范化筛查的临床价值。 方法对2011年9月至2014年5月在深圳市宝安区妇幼保健院产前检查的4853例孕妇的孕早期（11~13⁺⁶周）胎儿行颈项透明层（NT）厚度测量，同时行胎儿主要结构超声筛查，显示胎儿正中矢状切面、颈项矢状切面、颅脑横切面、心脏四腔心切面及三血管气管切面、腹部横切面、膀胱切面、上肢切面、下肢切面，并保存图像。对超声检查后继续妊娠的孕妇均行中孕期Ⅲ级和晚孕期Ⅱ级超声检查，所检病例均追踪随访至出生后6周，引产胎儿均行病理检查，超声与病理检查结果进行对照分析。 结果孕11~13⁺⁶周超声筛查的4853例孕妇中单胎4500例，双胎353例，共5206例胎儿，发现胎儿结构异常85例，检出率为（1.6%，85/5206），包括中枢神经系统异常28例，前腹壁异常9例，心脏异常6例，泌尿系畸形3例，骨骼系统畸形2例，多房性水囊瘤及水肿胎35例，双胎之一结构异常2例。85例结构异常胎儿中6例在孕14周后复查无异常，正常出生；79例结构异常胎儿超声诊断后孕妇均选择引产；其中孕14周前选择引产73例，孕14周后超声复查及染色体检查证实胎儿畸形后孕妇选择引产6例；仅9例孕妇选择绒毛膜穿刺或羊水穿刺，胎儿核型分析3例正常，3例为18-三体综合征，3例为45X综合征。产后检查证实胎儿结构异常110例，与产后检查结果对照，早孕期超声漏诊胎儿结构异常25例（22.7%，25/110），中晚孕期补充检出胎儿结构异常22例，产前超声共诊断胎儿结构异常107例，仅漏诊3例，出生后检查新生儿室间隔缺损2例、小耳畸形1例。 结论孕11~13⁺⁶周超声结构筛查可使胎儿畸形筛查时间提前，为致死性胎儿畸形的孕妇提供较早终止妊娠的机会，有效减少结构异常胎儿出生，具有重要临床意义。

Clinical significance of ultrasonic screening of fetal structural anomalies at 11-13+6 weeks

ObjectiveTo summarize the clinical significance of ultrasonic screening of fetal structural anomalies at 11-13⁺⁶ weeks. MethodsWe conducted a retrospective study of 4853 cases of nuchal translucency screening at 11-13⁺⁶ weeks in Maternal and Child Health Hospital of Bao′an of Shenzhen City from September 2011 to May 2014. The screening ultrasound planes included the median sagittal plane, neck sagittal section, cerebral transverse section, cardiac four-chamber view, three-vessel-trachea view, abdominal transverse section, bladder section, upper limb section and lower limb section of the fetuses. All the cases then underwent the ultrasonic structural screening in the second trimester (20-24 weeks) and the third (28-32 weeks) trimester and were followed up until 6 weeks after birth or the biopsy after abortion. ResultsEighty-five fetal structural anomalies were detected among the 4853 pregnant women at 11-13⁺⁶ weeks of gestation with the detection rate of 1.75% (85/4853), including central nervous system abnormalities (28 cases), anterior abdominal wall anomalies (9 cases), cardiac anomalies (6 cases), urinary system malformation (3 cases), skeletal system malformation (2 cases), multilocular cystic tumor and dropsy embryo (35 cases), and abnormal twins (2 cases). Among above abnormal fetuses, 6 cases showed normal structure in the screening after 14 weeks and were born without malformations, while the rest 79 cases were taken artificial abortion (73 cases in the first trimester and 6 cases in the second trimester). Only 9 cases were taken chorionic puncture or amniocentesis, including normal karyotypes (3 cases), 47, XN, +18 (3 cases) and 45, X (3 cases). The False negative rate in the first trimester was 23% (25/110). Supplementary detection of fetal structural abnormalities in the second and third trimester were found in 22 cases (20%, 22/110). Two cases of VSD and 1 case of microtia were identified after birth. ConclusionsThe fetal malformation can be detected in the earlier gestation with the ultrasonic screening at 11-13⁺⁶ weeks, which provide the earlier termination to the abnormal fetus. It has important clinical significance in effectively reducing fetal births with structural abnormalities.