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目的对四川地区孕中期妇女进行21-三体综合征和神经管缺损的产前筛查、诊断,以降低出生缺陷。方法对30 722例孕14-20周的孕妇采用酶联免疫方法检测孕妇血清AFP和β-HCG浓度,通过计算机软件计算危险系数,对唐氏高危孕妇取羊水作染色体和基因诊断;对神经管缺损高危孕妇行B超检查。结果在30 722例孕妇中筛查出唐氏综合征高危1434例、神经管缺高危262例、18、13-三体高危110例,共计1806例,占筛查总数的5.88%;有785人愿意通过抽取羊水进一步确诊,发现22例21-三体儿,1例为46,XX,5p-,3例18-三体儿;在18、13-三体高危的110例中,虽未作进一步确诊,但有3例已胎死宫内,证明也为异常妊娠;在神经管缺损高危的262例中,全部作了B超检查,发现5例神经管缺损患儿。结论产前筛查结合产前诊断对21-三体综合征和神经管缺损的预防具有重要意义。
Objective To screen prenatal screening and diagnosis of 21-trisomy syndrome and neural tube defects in the second trimester women in Sichuan to reduce the birth defects. Methods Serum levels of AFP and β-HCG in pregnant women were detected by enzyme-linked immunosorbent assay (ELISA) in 30 722 pregnant women aged 14-20 weeks. The risk factors were calculated by computer software to detect amniotic fluid in high risk pregnant women, High-risk defects in pregnant women underwent B-ultrasound. Results A total of 30 722 pregnant women were screened for high risk of Down syndrome, 1,434 cases, 262 cases of neural tube defects in high risk, 110 cases of 18,13-trisomy, a total of 1806 cases, accounting for 5.88% of the total number of screening; 785 Willing to further confirmed by extraction of amniotic fluid and found that 22 cases of 21-trisomy, 1 case of 46, XX, 5p-, 3 cases 18- trisomy; in 18,13-trisomy 110 cases, although not for Further confirmed, but 3 cases have been fetal death proved to be abnormal pregnancy; high risk of neural tube defects in 262 cases, all made B-ultrasound and found 5 cases of neural tube defects in children. Conclusion Prenatal screening combined with prenatal diagnosis of 21-trisomy and neural tube defects is of great significance.