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目的探讨孕11~13+6周胎儿鼻骨和颈项透明层超声检查在胎儿染色体异常筛查中的应用价值。方法对进行产前筛查的孕11~13+6周(孕早期)且获得随访的孕妇3286例,采用常规经腹部超声对胎儿鼻骨和颈项透明层进行检测,超声检查与后期羊水穿刺染色体核型分析及随访结果进行对照分析。结果孕早期经超声检测染色体异常高风险者277例,高风险孕妇进一步行羊水穿刺染色体核型分析证实胎儿染色体核型异常10例。3286例孕妇进行羊水穿刺染色体核型分析或产后随访得出染色体异常15例,检出率为66.7%(10/15),假阳性率为8.1%。结论采用超声检查孕早期颈项透明层厚度和鼻骨有无缺失检查出高风险孕妇,大大缩小了进行羊水穿刺分析染色体核型的孕妇数量,是产前筛查一项重要的组成部分。
Objective To investigate the value of fetus nasal bone and cervical transparent layer ultrasonography in fetal screening for fetal chromosomal abnormalities during pregnancy from 11 to 13 + 6 weeks. Methods 3286 pregnant women who were followed up for 11 ~ 13 + 6 weeks (first trimester) during prenatal screening were enrolled in the study. The fetal nasal bones and neck transparent layer were detected by conventional transabdominal sonography. Ultrasonography and amniocentesis Type analysis and follow-up results were compared. Results 277 cases of high risk of chromosomal abnormalities were detected by ultrasonography in the first trimester, and 10 cases of fetal chromosomal abnormalities were confirmed by karyotype analysis of amniocentesis in high risk pregnant women. 3286 pregnant women with amniocentesis by karyotype analysis or postnatal follow-up showed chromosomal abnormalities in 15 cases, the detection rate was 66.7% (10/15), the false positive rate was 8.1%. Conclusion It is an important part of prenatal screening to detect the number of pregnant women who undergo amniocentesis by detecting the karyotype of the chromosome by amniocentesis.