孕中期超声软指标、结构畸形在产前诊断21-三体综合征中的价值

The Value of Ultrasonographic Soft Markers and Structural Abnormalities in the Second Trimester in Prenatal Diagnosis of Trisomy 21 Syndrome

目的探讨孕中期超声软指标、结构畸形在产前诊断21-三体综合征中的价值。方法整群选取2011年1月—2014年12月期间常州市妇幼保健院经产前诊断中心会诊行羊膜腔穿刺确定核型的胎儿1448例,其中130例在孕中期超声检查中发现软指标或结构畸形。对伴有软指标或结构畸形胎儿的超声图像进行回顾分析,并与染色体核型结果进行对照。结果 1448例胎儿染色体核型分析中检出21-三体39例,异常检出率2.69%。其中130例伴有软指标或结构畸形者检出21-三体11例,异常检出率8.46%。诊断21-三体的敏感度,特异度分别为28.21%(11/39),91.55%(1290/1409)。检出的11例21-三体胎儿中,有3例伴单一软指标,4例伴多发软指标,4例伴结构畸形。11例21-三体胎儿表现的软指标有:NF增厚、脉络膜囊肿、轻度侧脑室扩张、轻度肾盂扩张、肠管强回声和心室强光点。涉及的结构畸形有:鼻骨短小或缺失、消化系统畸形、心血管系统畸形。结论超声软指标、结构畸形会增加患21-三体综合征的风险,但不能以超声作为诊断的唯一手段。对孕中期超声检查发现软指标或结构畸形的胎儿,应建议孕妇行产前咨询以决定是否行侵入性穿刺。

Objective To investigate the value of ultrasonographic soft markers and structural abnormalities in the second trimester in prenatal diagnosis of trisomy 21 syndrome. Methods From January 2011 to December 2014, 1448 cases in Prenatal Diagnosis Center in Changzhou Maternal and Child Health Care Hospital were given amniocenteses to determine the chromosome karyotypes after consultations, of them, there were 130 cases with ultrasonographic soft markers or structural abnormalities during the second trimester. The ultrasonic images of fetuses with ultrasonographic soft markers or structural abnormalities were reviewed and compared with the results of chromosome karyotypes. Results Among 1448 cases of chromosome karyotype analyses, 39 cases were found with trisomy 21 and the abnormal detection rate was 2.69%. Among the 130 cases with ultrasonographic soft markers or structural abnormalities, 11 cases were found with trisomy 21 and the abnormal detection rate was 8.46%. The sensitivity and specificity of ultrasonographic soft markers and structural abnormalities in the diagnosis of trisomy 21 was 28.21%（11/39）, 91.55%（1290/1409）. Of the 11 cases found with trisomy 21, 3 cases also had single soft marker, 4 cases had multiple soft markers, and 4 cases had structural abnormalities. The soft markers of11 cases with trisomy 21 were thickened nuchal fold（NF）, choroid plexus cyst, mild ventriculomegal, mild pyelectasis, echogenic bowel and echogenic intracardiac focus. And the structural abnormalities of 11 cases with trisomy 21 were nasal bone short and small, nasal bone absence, digestive system abnormalities and cardiovascular system abnormalities. Conclusion Although ultrasonographic soft markers and structural abnormalities suggest a higher risk of trisomy 21 syndrome, ultrasonic diagnosis can＇t be regarded as the only way for diagnosis. Prenatal counseling should be given to pregnant women whose fetus with soft markers or structural abnormalities found by ultrasonic examination in the second trimester for determining whether or not they accept invasive puncture.