摘要
目的：了解1999—2012年珠海市通过侵入性产前诊断方法预防先天性遗传病患儿出生的效果，同时评估产前诊断价值。方法：对1999～2012年因各种产前诊断指征在珠海市妇幼保健院接受侵入性产前诊断的6049例患者的病例情况、产前诊断结果及妊娠结局进行回顾性分析及统计学处理。结果：1999—2012年共进行侵入性产前诊断6049例，其中羊膜腔穿刺术4603例，脐静脉穿刺术1446例。发现染色体异常546例，地中海贫血361例，异常检出率为15．0％。因严重遗传病引产218例。结论：侵入性产前诊断是产前发现异常胎儿的有效手段，在有效避免严重遗传病患儿的出生方面有实用价值，且对于提高珠海市的人口素质起到了十分积极、有效的作用。
Objective： To understand the effect of invasive prenatal diagnosis on prevention of birth of neonates with congenital genetic diseases in Zhuhai city from 1999 to 2012, and evaluate the value of prenatal diagnosis. Methods： The clinical data, results of prenatal diagnosis and pregnancy outcomes of 6 049 patients receiving invasive prenatal diagnosis in the hospital because of various prenatal indications from 1999 to 2012 were analyzed retrospectively and statistically. Results： From 1999 to 2012, a total of 6 049 patients receiving invasive prenatal diagnosis, including 4 603 patients receiving amniocentesis and 1 446 patients receiving umbilical vein puncture; 546 patients were diagnosed as chromosomal abnormalities and 361 patients were diagnosed as thalassemia, the detection rate was 15.0% ; 218 patients underwent induced abortion because of severe genetic diseases. Conclusion： Invasive prenatal diagnosis is an effective method to fine prenatal fetal abnormalities. It has practical value in avoiding the birth of neonates with serious genetic diseases, and it plays an active and effective role in improving the quality of the population in Zhuhai city.
出处
《中国妇幼保健》
CAS
北大核心
2014年第17期2775-2778,共4页
Maternal and Child Health Care of China
