妊娠中期唐氏综合征和神经管缺损的产前筛查和产前诊断的研究

Studies of second trimester prenatal screening and diagnosis for Down's syndrome and open neural tube defects [Down's syndrome prenatal screen and diagnosis]

目的对重庆地区妊娠中期的妇女进行唐氏综合征和其他先天畸形的产前筛查,诊断,以降低出生缺陷。方法对13017例14~20周的孕妇采用酶联免疫方法检测孕妇血中的AFP和β-HCG浓度,通过计算机软件计算危险系数（唐筛风险值≥275,神经管缺损AFP≥2.5 MoMs）。对唐氏高危的孕妇取羊水做染色体和基因诊断,神经管缺损高危者行超声波检查。结果13017孕妇中筛查出唐氏综合征,神经管缺损,18,13三体高危771例,占5.92%。唐氏高危607例,占4.66%。有352例愿意进一步确诊,发现11例异常妊娠。116例神经管缺损高危（占0.89%）中全部做超声检查。发现3例神经管缺损的胎儿。48例18,13三体高危中5例做羊水染色体为正常,其余虽未做进一步确诊,但有3例胎死宫内,证明也有异常妊娠。结论唐氏综合征和神经管缺陷的产前筛查并结合其他方法进行诊断。对降低出生缺陷有积极的意义。

Objective ： This study was to identify in the utilization of second trimester maternal serum screening and prenatal diagnosis of Down＇ syndrome and other congenital abnormality to pregnant women in regional Chongqing for reducing the frequency of natal defect. Methods： Detect the value of AFP and β -HCG in the serum of 13017 pregnant women at about 14^th -20^th weeks by ELISA and calculate their risk coefficient with professional computer software （The risk cut - off levels were 1 ： 275 for Down＇s syndrome, 2. 5 MoMs alpha fetoprotein for open neural tube defects ）. Analyze karyotype in amniotic fluid and carry out gene diagnosis to Down＇ s syndrome high risk pregnant women. Perform ultrasonogaphy to neural tube defect （NTD） high risk cases. Results： In 13017 pregnant women, 771 cases （5.92%） were high risk, 607 （4. 66% ） high risk cases of Down＇s syndrome, 116 （0. 89% ） high risk cases of NTD and 48 （0. 37% ） high risk of 18 trisomy and 13 trisomy. According to further diagnosis, 11 cases of 352 high risk pregnant women were abnormal pregnancies. 5 cases of 48 trisomy 18, trisomy 13 high risk women were normal, the rests didn＇t accept further diagnosis, 3 cases of them had been certified to abnormal pregnancies because the fetuses died in the womb. According to B- ultrasonogaphy detection, 3 cases of 116 NTD high risk cases were NTD fetus.. Conclusion： Prenatal screen and prenatal diagnosis have very important significance to the prevention of Down＇ syndrome and other congenital abnormality.