【论著】2694例唐氏综合征产前筛查结果分析

  08-12-31  

孙俊余爱丽
摘要目的通过唐氏综合征和开放性神经管缺陷的筛查，最大程度地降低出生缺陷的发生率。方法 抽取2 694例14~20周孕妇的静脉血3 mL，测定其中的游离β?HCG和AFP的含量。结合孕妇的年龄、孕周和体质量，再经配套软件对风险率进行计算和评估。结果2 694例孕妇经唐氏综合征产前筛查，高危孕妇为140人，阳性率5.20%。经羊水穿刺确诊唐氏综合征2例，经B型超声确诊神经管畸形1例。结论孕妇血清标志物检测能显著降低创伤性产前诊断的孕妇比例。对降低唐氏儿和神经管缺陷儿的出生有重大意义。
关键词唐氏综合征游离绒毛膜促性腺激素甲胎蛋白
Analysis on 2 694 cases of Down's Syndrome by Prenatal Screening
SUN JunYU Ai?li
ABSTRACTObjectiveTo investigate the prenatal screening situation for Down syndrom(DS) and neural tube defects(NTDS) to lower the occurrence of the child bearing blemish. Methods3 mL Vein blood were drawed from pregnant women who were at 14?20 completed weeks' gestation, the amount of free β?HCG and AFP were measured. The age, gestation week, weight and the β?HCG, AFP were integratively evaluated by the kit software. Results2 694 pregnant women were studies by prenatal diagnosis of DS. The results indvcated that 140 people were in high risk (5%), 2 people were diagnosed by amniocentesis, 1 person was diagnosed by B Ultrasound with NTDS. ConclusionScreening and examing of serum from pregnant women can obviously lower the rate of pregnant women in injured prenated diagnosis and lower the bearing probility of DS child.Prenatal diagnosis of DS will be significant to lower the child bearing rate of DS and NTDS.
KEY WORDSDown's syndromFree β　HCGAFP