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目的探讨孕中期孕妇产前筛查对胎儿染色体异常及神经管畸形的临床应用价值,并回顾性分析南昌市唐氏综合征(21-三体)、爱德华综合征(18-三体)及神经管畸形(NTD)等出生缺陷的发生率。方法采用时间分辨荧光免疫技术检测2012-2014年孕15~20+6周孕妇血清中的生化标志物AFP、u E3及Freeβ-HCG浓度,通过Life Cycle风险评估软件计算胎儿患有染色体疾病,神经管畸形的风险概率。结果 77 392例孕中期筛查孕妇中,21-三体综合征、18-三体综合征及神经管畸形的筛查阳性率分别为4.53%、0.65%及0.52%。35岁以上孕妇21-三体综合征和18-三体综合征阳性率分别为31.39%和2.94%,明显高于35岁以下孕妇的平均阳性率4.65%(3 316/71 339)和0.46%(330/71 339),差异有统计学意义(χ221-三体=7.506,χ218-三体=6.862,P<0.05)。高危孕妇参与产前诊断的有1 935例,确诊为21-三体及18-三体分别为51例和13例,经彩超检查发现异常畸形的有10例。结论孕中期三联法产前筛查能有效地预测胎儿染色体异常,并结合羊水细胞染色体核型分析和超声检查能最大程度地避免先天缺陷儿的出生。
Objective To investigate the clinical value of prenatal screening in the second trimester of pregnancy on chromosomal abnormalities and neural tube defects in fetus and to retrospectively analyze the relationship between Down’s syndrome (21-trisomy), Edward’s syndrome (18-trisomy) and nerves The incidence of birth defects such as deformities (NTD). Methods The serum levels of AFP, uE3 and Freeβ-HCG in pregnant women between the ages of 15-20 + 6 weeks from 2012 to 2014 were detected by time-resolved fluorescence immunoassay. Life Cycle risk assessment software was used to calculate the fetal chromosomal diseases, Risk of tube deformity. Results The positive screening rates of 77 trimester screening pregnant women with 21 trisomy, 18 trisomy and neural tube defects were 4.53%, 0.65% and 0.52%, respectively. The positive rates of trisomy 21 and trisomy 18 in pregnant women over 35 years old were 31.39% and 2.94% respectively, significantly higher than that of pregnant women under 35 years old (4.16%, 3.16/71, 339) and 0.46% (330/71 339), the difference was statistically significant (χ221-trisomy = 7.506, χ218-trisomy = 6.862, P <0.05). There were 1 935 high-risk pregnant women involved in prenatal diagnosis, diagnosed as 21-trisomy and 18-trisomy 51 cases and 13 cases, respectively, and 10 cases had abnormal deformity by color Doppler ultrasound examination. Conclusion Trimester prenatal screening can effectively predict fetal chromosomal abnormalities. Combined with karyotype analysis and ultrasonography of amniotic fluid cells, we can avoid birth of birth defects to the greatest extent.