胎儿染色体病超声筛查研究.docVIP

胎儿染色体病超声筛查研究[摘要] 目的 探求超声在孕中期筛查胎儿染色体病的临床效果和可靠性。方法 对2008年1月~2010年12月于宁夏医科大学附属医院接受产前筛查的孕18~24周的孕妇应用超声指标进行孕中期筛查，发现胎儿结构畸形则建议其行产前诊断，对发现2项以上软指标异常的孕妇也建议进行产前诊断。结果 接受筛查的11 065例孕妇中，异常206例，检出率为1.86%，其中187例接受产前诊断，发现染色体病者16例，继续妊娠至分娩者染色体异常1例，共17例，异常率为9.09%。 结论 超声检查可有效提高胎儿染色体异常的检出率，减少染色体病胎儿出生，避免不必要的侵入性检查。 [关键词] 胎儿；染色体病；超声筛查 [中图分类号] R714.55 [文献标识码] B [文章编号] 1673-9701（2011）35-128-02 Ultrasound Screening for Fetal Chromosomal Diseases PAN Lihua1 DING Lili2 JI Xueqin1 WANG Haiyan1 WU Liping1 WANG Wen3 1.Obstetrics and Gynecology Department, Ningxia Medical University General Hospital， Yinchuan 750004, China；2.Ningxia Medical University Postgraduate Education College, Yinchuan 750004, China；3.Department of Ultrasonography, Ningxia Medical University General Hospital， Yinchuan 750004, China [Abstract] Objective To estimate the clinical value and reliability of ultrasound screening for fetal chromosomal diseases in the second trimester. Methods The women at about 18-24 weeks gestation who were willing to accept ultrasound screening were detected in the second trimester. Pregnent women who found foetal deformities or two index were abnormal should auept prenatal diagnosis. Results All of 11 065 pregnant women were screened, and 206 of them were abnormalby ultrasound examination, detection rate was 1.86%, 187 women accept prenatal diagnosis, 16 fetuses’ chromosomes were abnormal. One baby was found to be abnormal after birth. So the rate of chromosomal abnormalities was 9.09%. Conclusion Ultrasound screening could increase detection rate of fetal chromosomal abnormality, reduce congenital abnormal babies and avoid excessive invasive examination effectively. [Key words] Fetus; Chromosomal disease; Ultrasound screening 染色体病是导致子代胚胎停育、流产、死胎、死产、新生儿死亡的重要疾病。其中21三体综合征（Down综合征）、18三体综合征（Edwards综合征）是产前筛查的重点，活产婴儿中的发生率分别为1/800和1/5000[1]。染色体病的检查方法分为筛查性检查与诊断性检查。目前，临床大多采用侵入性的诊断检查方法，但风险较大，不宜用于普查。超声检查方法安全性高，在孕早、中期对胎儿染色体病的诊断具有较高的参考价值[2]。本研究应用超声指标于孕中期筛查胎儿染色体病，进一步探讨超声筛查的意义，以提高胎儿染色体病的产前检出