目的 探讨母体血清甲胎蛋白联合超声检查在产前诊断胎儿神经管畸形及遗传综合征中的价值。方法 回顾性分析中孕期（15～20+6周）血清甲胎蛋白AFP≥2.5MoM孕妇胎儿超声检查结果，统计分析胎儿神经管缺陷、遗传综合征及其他异常检查结果。结果1405例血清甲胎蛋白AFP≥2.5MoM孕妇中，超声检出神经管缺陷37例，其中露脑畸形2例、无脑儿5例、脊柱裂14例、脑膜脑膨出16例。检出遗传综合征12例，其中，肢体-体壁综合征5例、VATER联合征3例、Cantrell五联征2例、Meckel-Gruber综合征2例。其他畸形例47例：心脏畸形2例、腹壁裂5例、脐膨出6例、死胎13例。胎儿附属物异常：胎盘厚12例、羊水少12例。结论 利用孕妇血清AFP水平测定结合胎儿超声检查是中孕期胎儿神经管缺陷及合并脊柱裂或腹壁裂的遗传综合征等异常产前筛查、产前诊断的首选方法,能为临床遗传咨询及孕期管理提供科学依据。是减少出生缺陷发生的有效手段之一。
Objective This paper is to investigate the value of maternal serum alpha-fetal protein combined with ultrasonography in prenatal diagnosis of fetal neural tube defects, genetic syndromes and other abnormalities. Method Retrospective analysis of 15～20+6 gestational weeks pregnant women whose serum AFP≥2.5MoM. Study these pregnant women’s fetal ultrasound examination results, analysis of fetal neural tube defects, genetic syndromes and other abnormal findings, and statistical analysis. Results 1405 cases of 15～20 +6 gestational weeks pregnant women whose serum AFP≥2.5MoM. Ultrasonic detection of neural tube defects 37 cases, including 2 cases exencephalia, 5 cases anencephaly, 14 cases Spina bifida, 16 cases meningeal encephalocele. Detected genetic syndromes 12 cases, among which limb - wall syndrome 5 cases, pentalogy of Cantrell 2 cases, Meckel-Gruber syndrome 2 cases, VATER syndrome 2 cases.And other malformations 47 cases: heart malformation 2 cases, abdominal fissure 5 cases, omphalocele 6 cases, stillbirth 10 cases. Abnormal fetal appendages: placental thickness 12 cases and oligohydramnios 12 cases. Conclusions The determination of serum AFP≥2.5MoM level in pregnant women with fetal ultrasound examination is the preferred method in the fetal with neural tube defects and other genetic abnormalities who with spina bifida or abdominal wall cleft in prenatal screening and prenatal diagnosis, and can provide scientific basis for clinical genetic counseling and prenatal management. It is one of the effective means to reduce the incidence of birth defects.
