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目的:为了加强二级预防,减少残疾儿出生,出生人口素质,自2002年1月1日起对12000例孕妇进行了产前筛查。筛查出高风险孕妇936例,并对375例染色体异常高风险孕妇进行了羊膜腔穿刺细胞培养、核型分析。确诊为18-三体1例,21-三体5例,9号染色体倒位1例,45,xo1例,染色体平衡异位1例,检出率为2.4%;NTD畸形高风险112例,诊断发现异常20例,其中5例无脑儿,脊柱裂7例,腹裂肝外翻3例,脐膨出1例死胎3例,胎儿水肿1例,均引产证实。检出率为0.93%。发现畸形者均在28周前做引产手术,减少了缺陷儿的出生,也降低了围产儿的死亡率[1]。
Objective: To strengthen secondary prevention and reduce the birth and birth quality of disabled children, 12000 pregnant women were enrolled in prenatal screening since January 1, 2002. 936 high-risk pregnant women were screened and 375 cases of high-risk chromosomal abnormalities were subjected to amniocentesis and karyotype analysis. One case of 18-trisomy, 5 cases of 21-trisomy, 1 case of chromosome 9 inversions, 45 cases of xo1 cases and 1 case of chromosomal imbalance were diagnosed. The detection rate was 2.4%. The high risk of NTD was 112 cases, Diagnosis of abnormalities in 20 cases, of which 5 cases without brain children, spina bifida in 7 cases, abdominal rupture of the liver in 3 cases, umbilical swelling in 1 case of stillbirth in 3 cases, 1 case of fetal edema, induced abortion were confirmed. The detection rate was 0.93%. Malformations were found in the induction of labor before 28 weeks to reduce the birth of defective children, but also reduce the perinatal mortality [1].