妊娠中期唐氏综合征和神经管缺损的产前筛查,诊断的研究

Studies of second trimester prenatal screening and diagnosis for Down′s syndrome and open neural tube defects

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43 057例14-20周的孕妇采用化学发光法孕妇血中的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)。对唐氏征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 43 057孕妇中筛查出唐氏综合征,神经管缺损,18,13三体高危2463例,占5.72%。唐氏征高危2002例,占4.65%。有1352例愿意进一步确诊,发现53例异常妊娠。306例神经管缺损高危(占0.71%)中全部做超声检查。发现9例神经管缺损的胎儿。155例(占0.36%)18,13三体高危中86例做羊水染色体,异常1例,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＇s yndrome 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 43057 pregnant women at about 14th -20th weeks by chemiluminescence in the AFP and β - HCG concentration 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 ultrasonography to neural tube defect （NTD） high risk cases. Results： In 43057 pregnant women, 2463 eases （5.72%） were high risk, 2002 （4. 65% ） high risk cases of Down＇s syndrome, 306 （0. 71% ） high risk cases of NTD and 155 （0. 36% ） high risk cases of 18 trisomy andl3 trisomy. According to further diagnosis, 53 cases of 1352 high risk pregnant women were abnormal pregnancies. 1 cases of 155 trisomy 18, tri- somy 13 high risk women were abnormality, 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 ultrasonography detection, 9 cases of 306 NTD high risk cases were NTD fetus. Conclusion： Prenatal screen and prenatal diagnosis have very important significance to the prevention of Down＇s syndrome and other congenital abnormality.