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目的评价成都双流区妇幼保健院孕中期产前筛查及产前诊断的临床应用价值。方法应用时间分辨法,对我院定期产检且孕周在15~20~(+6)w孕妇,免费行血清AFP、HCG检测,结合孕周、体重、年龄等因素,应用2T分析软件计算风险值。对高风险孕妇实施产前诊断查胎儿染色体、对临界风险行高通量基因测序及产前超声检查,对妊娠结局严格追踪随访。结果共筛查39 474例孕妇,检出高风险1671例,阳性率4.2%。其中:DS高风险1377例,BS高风险80例,NTD高风险234例;经产前诊断,检出DS 9例,ES 4例,NTD 5例,标记染色体1例,平衡移位5例,随体增加6例。1例因DS为1/600,为临界风险,患者未行诊断,生出1例DS患儿。结论孕中期产前筛查能有效的提高产前诊断的检出率,对预测胎儿染色体异常疾病及产科并发症具有较高的效率。加强实验室的质量测评,提升遗传咨询者的咨询技能,提升医患之间的信任度,提高患者的依从性,可显著降低我区出生缺陷率。
Objective To evaluate the clinical value of prenatal screening and prenatal diagnosis in the second trimester of MCH in Chengdu Shuangliu District. Methods The time-resolved method was used to calculate the risk of AFP and HCG in the pregnant women with gestational age of 15 ~ 20 ~ (+6) w on a regular basis and with gestational age, weight, age and other factors. value. Prenatal diagnosis of high-risk pregnant women to check fetal chromosomes, high-throughput gene sequencing of critical risk and prenatal ultrasound, the follow-up of pregnancy outcomes strictly tracked. Results A total of 39 474 pregnant women were screened, with a high risk of 1671 cases, the positive rate was 4.2%. Among them, 1377 cases of high risk of DS, 80 cases of high risk of BS and 234 cases of high risk of NTD; 9 cases of DS, 4 cases of ES, 5 cases of NTD, 1 case of marker chromosome, 5 cases of balanced shift, With the body increased in 6 cases. In 1 case, DS was 1/600, which was a critical risk. The patient did not diagnose and gave birth to 1 DS. Conclusion The prenatal screening in the second trimester can effectively increase the detection rate of prenatal diagnosis and has high efficiency in predicting fetal chromosomal abnormalities and obstetric complications. Strengthen laboratory quality evaluation, enhance counseling counseling skills, improve the trust between doctors and patients, improve patient compliance, can significantly reduce the birth defect rate in our region.