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目的探讨孕早期超声测量胎儿颈项透明层(NT)厚度在产前诊断胎儿畸形中的临床价值。方法对284例孕11~13周胎儿参照英国胎儿医学基金会的指南测量胎儿NT厚度,并随访染色体核型、结构及妊娠结局;同时探讨NT不同界值,NT≥2.0、2.5、3.0、3.5、4.5 mm在预测胎儿畸形的敏感性和特异性。结果 NT厚度<2.5 mm的胎儿182例,其中染色体及结构正常146例,染色体或结构异常36例。NT厚度≥2.5 mm的胎儿102例,其中26例染色体异常(1 8-三体综合征10例、21-三体综合征16例),50例结构畸形(胎儿上肢发育异常8例、多发性结构异常14例、先天性心脏病23例、脑组织结构异常5例),14例不明流产,10例宫内死胎,12例无染色体及其他结构异常。不同NT切割值在预测胎儿畸形的敏感性分别为87.4%、82.2%、58.9%、12.3%和7.8%,特异性分别为76.8%、96.3%、98.6%、100.00%和100.00%。结论 NT厚度是一个早期对胎儿染色体异常、结构异常,尤其是胎儿三体综合征、先天性心脏病筛查的重要指标,对妊娠不良结局预测具有较高的临床价值。
Objective To investigate the clinical value of measuring the thickness of fetal neck neoplasms (NT) in prenatal diagnosis of fetal malformations during the first trimester of pregnancy. Methods Fetal NT thickness was measured in 284 fetuses with gestational age of 11-13 weeks according to the guidelines of British Fetal Medical Foundation. The karyotype, structure and pregnancy outcome were followed up. The different thresholds of NT, NT≥2.0, 2.5, 3.0, 3.5 , 4.5 mm in predicting the sensitivity and specificity of fetal malformations. Results There were 182 fetuses with NT thickness <2.5 mm, including 146 cases of normal chromosomes and structures, and 36 cases of chromosomal or structural abnormalities. There were 102 fetuses with NT≥2.5 mm in thickness, including 26 chromosomal abnormalities (10 cases of trisomy 8, 16 cases of trisomy 21) and 50 cases of structural abnormalities (8 cases of fetal upper extremity dysplasia, multiple 14 cases of structural abnormalities, 23 cases of congenital heart disease, 5 cases of abnormal brain tissue structure), 14 cases of unknown abortion, 10 cases of intrauterine fetal death, 12 cases of chromosomal and other structural abnormalities. The sensitivity of different NT cut-off values in predicting fetal malformation were 87.4%, 82.2%, 58.9%, 12.3% and 7.8%, respectively, and the specificity was 76.8%, 96.3%, 98.6%, 100.00% and 100.00% respectively. Conclusion NT thickness is an important indicator of fetal chromosomal abnormalities, structural abnormalities, especially fetal trisomy syndrome and congenital heart disease screening. It has a high clinical value for predicting adverse pregnancy outcomes.