摘要
目的了解本地区实施产前筛查、诊断无缝衔接"一站式"服务模式过程中影响决定产前筛查、诊断主要原因、对落实产前诊断制定对策,提高产前诊断率,有效防止出生缺陷的发生。方法选择2010年1月～2012年12月30日止,满足条件的深圳市宝安区妇幼保健院产前门诊、早孕建册适时机会筛查,唐氏早期二联筛查(PAPP-A+β-HCG)、中期三联筛查(AFP+β-HCG,UE3)地中海贫血,超声系统筛查,有产前诊断指征人群行问卷调查2400份。结果血清学筛查率2010-2012年依次为早期筛查依次为17.85%,32.66%,38.28%)中期筛查依次为82.14%,67.33%,61.71%,高风险人数落实产前诊断率依次为68.66%,82.89%,85.39%。联合筛查敏感性和特异性、检出率升高,羊水确诊率逐步提高(P<0.05),地贫基因检查夫妇同型地贫2010-2102年依次21.65%,24.49%,26.33%。落实产前诊断,确诊重度地贫率依次为1.21%,2.19%,2.95%。超声筛查异常率2010-2012年5.56%,5.34%,6.03%,落实产前诊断率依次为4.67%,5.06%,6.35%,从影响因素看主要有:担心介入性产前诊断技术风险及并发症发生占52.62%,认为无不良生育史及家族无遗传病史占15.87%,因经济原因占15.01%,试管婴问题占12.75%,对医疗质量存顾虑占10.01%。研究显示,产前筛查属无创、便捷较产前诊断易于受接及落实,通过加大宣传力度、政府部门加大投入推出优惠政策、降低费用同时不断提高医疗服务质量,有利于提高产前筛查、诊断的服务利用率、覆盖率。结论产前一站式目标疾病筛查与诊断无缝衔接服务模式,与整体化综合干预是防止出生缺陷行之有效措施。
Objective： Researches on the major factors which influence pregnant women＇s decisions on prenatal screening and diag- nosis during the operation of seamless one - stop service of prenatal screening and diagnosis in local areas. It will help to set the imple- mentation strategies of prenatal diagnosis, improve the rate of prenatal diagnosis and prevent birth defects effectively. Methods ： We se- lected pregnant women who visited antenatal clinics of Bao＇an District Maternal and Child Health Hospital from Jan. 2010 to Dec. 30th, 2012. Through building healthcare handbook in early pregnancy, timely prenatal examination, Down＇s bigeminy screening （ PAPP - A ＋ 13 - HCG） in early pregnancy, Down＇s trigeminy screening （ AFP ＋ 13 - HCG ＋ UE3 ） in second trimester of pregnancy, thalassemia and ultrasound system screening, we completed 2400 questionnaires to pregnant women who had the indications for prenatal diagnosis. Results： From 2010 to 2012, the annul serological screening rates were 17.85%, 32. 66%, 38. 28% respectively in early pregnancy and were 82. 14%, 67.33%, 61.71% respectively in the second trimester of pregnancy. The ratios of pregnant women who accepted prenatal diagnosis in high risk groups were 68.66%, 82. 89%, 85.39% respectively. The sensitivity, specificity and detec- tion rate of integrated screenings had been increasing steadily. And the accuracy of amniotic fluid diagnosis was gradually increased （ P 〈 0. 05）. From 2010 to 2012, the annul rates of the couples who have the same thalassemia gene types out of the couples who had thalassemia were 21.65%, 24.49%, 26. 33% respectively. And the annual rates of the confirmed severe thalassemia gene type fetu- ses were 1.21%, 2. 19%, 2.95% respectively through the implementation of prenatal diagnosis. And the abnormal rates in ultrasound screening were 5.56% , 5.34% , 6.03% respectively. The operation rates of the prenatal diagnosis in these abnormal fetuses were 4. 67%, 5.06%, 6. 35% respectively. The major factors keeping people back from prenatal diagnosis are as follows： 52. 62% for the fears on the technology risks and complications of invasive prenatal diagnosis; 15.87% for the believes that there was no adverse repro- ductive history or family genetic disease; 15.01% for financial considerations; 12. 75% due to test tube baby; 10. 01% for the con- cerns on medical quality. This research shows that, compared to prenatal diagnosis, prenatal screening is easier to accept since it＇s noninvasive and convenient. We can strengthen the publicity, make certain preferential medical policies, increase the related governmentinvestment, reduce medical cost and improve medical service quality. These measures will help to increase service utilization and cov- erage of prenatal screening and diagnosis. Conclusion ： Seamless one - stop service of prenatal screening and diagnosis for target disea- ses, combining with overall comprehensive interventions, is a very effective measure of preventing birth defects.
出处
《中国优生与遗传杂志》
2013年第5期94-96,131,共4页
Chinese Journal of Birth Health & Heredity
基金
深圳市科技计划项目编号:201103048
关键词
产前筛查
目标疾病
产前诊断
影响因素
一站式服务
干预策略
出生缺陷
Prenatal screening
Target disease
Prenatal diagnosis
Influencing factors
One - stop service
Intervention strate-gy
Birth defects
