血清学结合超声检查在非整倍体产前筛查中的应用价值探讨

Application of serology combined with ultrasonography in aneuploidy prenatal screening

目的探讨血清学检查结合B超在胎儿非整倍体产前筛查中的应用价值。方法对来我院检查的3248位孕妇使用孕中期血清学三联(AFP、Freeβ-HCG、uE_3)检测联合B超检查进行胎儿非整倍体染色体病产前筛查,然后对筛查高风险孕妇进一步分析其羊水细胞染色体核型。结果共筛查出高危孕妇192例,其中血清学筛查高危孕妇183例,而超声检查胎儿异常9例,后进行羊水穿刺确诊唐氏综合征5例、18-三体综合征2例。结论联合使用血清学检测和超声检查的产前筛查方案,有利于提高胎儿非整倍体染色体异常的检出率,相对简单有效而无创,值得在临床推广使用。

Objectives： To explore the value of serological examination combined with ultrasonography in fetal aneuploidy prenatal screening. Methods： 3248 pregnant women enrolled in our hospital were examined by prenatal serology triple （AFP, Free β-HCG, uE3） and B-ultrasonography for prenatal screening of fetal aneuploid chromosomal disease, and then we screened for high risk pregnant women with further analyzing their amniotic cells chromosome karyotype. Results： A total of 192 high - risk pregnant women were screened out, including 183 cases of high - risk pregnant women screening serology, 9 cases of abnormal fetal by ultrasound examination, after amniocentesis we diagnosed that Down＇s syndrome in 5 cases, 18 - trisomy syndrome in 2 cases. Conclusion： The combined use of serological test and ultrasonography for prenatal screening program, is conducive to improving the detection rate of fetal aneuploid chromosome abnormalities, and is relatively simple and effective and noninvasive, it is worthy of being used clinically.