论文部分内容阅读
目的:探讨孕中期母血唐氏筛查对胎儿染色体异常及神经管缺陷的临床价值。方法:对孕龄在14～20周的4 510例孕妇进行唐氏综合征筛查,对高危孕妇进行胎儿细胞染色体核型分析,并对神经管畸形高危的孕妇进行B超确诊。对所有筛查高危的孕妇追踪至胎儿出生。结果:①唐氏筛查共4 510例,筛查出高危孕妇235例,筛查阳性率5.21%;②235例高危孕妇中,孕妇年龄>35岁染色体异常检出率为3.11%;孕妇年龄<35岁的染色体异常检出率为9.46%;③235例高危孕妇中,69例进行产前诊断羊水穿刺,羊水穿刺率29.36%;④69例羊水穿刺的孕妇中,12例染色体异常,羊水穿刺异常率17.39%;⑤12例染色体异常中,21-三体占41.67%(5/12)。结论:唐氏综合征筛查对提高武汉市汉阳区出生人口素质,降低汉阳区的出生缺陷率起到了积极的作用。汉阳区唐氏筛查高危的孕产妇,进一步羊水穿刺率有待提高,产前筛查的后续工作的管理亟待加强,同时也要重视筛查低风险孕妇。
Objective: To investigate the clinical value of Down’s screening of maternal blood in the second trimester on fetal chromosomal abnormalities and neural tube defects. Methods: A total of 4 510 pregnancies at 14 to 20 weeks of gestation were screened for Down’s syndrome. Fetal cell karyotype analysis was performed on pregnant women with high risk. Ultrasonography was performed on pregnant women at high risk of neural tube defects. All fetuses at high risk are screened until fetal birth. Results: ① Down’s screening of 4 510 cases, screening of 235 cases of high-risk pregnant women, screening positive rate of 5.21%; ② 235 cases of high-risk pregnant women, pregnant women aged 35 years, chromosomal abnormalities were detected in 3.11%; pregnant women < The detection rate of chromosomal abnormalities at 35 years old was 9.46%. Among the 235 high-risk pregnant women, 69 cases were diagnosed amniocentesis by amniocentesis, the rate of amniocentesis was 29.36%. Among the 69 cases of amniocentesis, 12 cases were chromosomal abnormalities, abnormal rate of amniocentesis 17.39%; ⑤12 cases of chromosomal abnormalities, 21- trisomy 41.67% (5/12). Conclusion: Down’s syndrome screening plays an active role in improving the birth quality of Hanyang District in Wuhan and reducing the birth defect rate in Hanyang District. Down’s screening of high-risk pregnant women in Hanyang District, further amniocentesis rate to be improved, the management of follow-up work of prenatal screening urgently need to be strengthened, but also should pay attention to screening low-risk pregnant women.