孕妇对胎儿基因芯片的认知分析

Pregnant Women's Attitude Towards Fetal Microarray Study

目的为了解孕妇对胎儿基因芯片技术的认知现状,以便更好地做好孕妇产前诊断的健康教育需求分析。方法使用一个由18个问题构成的调查表,调查孕妇对胎儿基因芯片技术的认知现状认知倾向。结果在250份调查问卷中,55.3%孕妇进行过产前诊断,其中13.5%的孕妇曾经引产过异常胎儿,12.5%的孕妇曾孕育分娩智力低下、生长发育迟缓的患儿,17%有不明原因的死胎、死产、新生儿死亡的不良孕产史,14%具有不明原因的遗传病或染色体异常家族史,34.6%进行过染色体核型分析,51%孕妇错误地认为染色体核型分析可以发现所有的染色体异常,12.3%曾了解胎儿基因芯片知识,5.6%孕妇知道胎儿基因芯片可以检测染色体核型分析中检测不到的微缺失或微重复,4.5%孕妇知道染色体的微缺失或微重复可导致智力低下、生长发育迟缓、器官畸形及功能障碍。仅有9.8%孕妇表示若超声提示胎儿结构异常而染色体核型正常,愿意进行胎儿基因芯片的检测,85%的孕妇不知道目前运用的"胎儿基因芯片"可以检测100种以上的综合征,66.3%的孕妇错误地认为胎儿基因芯片检测报告正常,就意味着胎儿绝对正常。结论孕妇对胎儿基因芯片技术认识明显不够,需在孕前或早孕期教育等时机予以普及,这对防止医疗新技术应用中由于结果和期望值落差造成的医患纠纷。

Objective Understanding the cognitive status of maternal fetal DNA microarray technology, so it can do a better job of health education needs of pregnant women during first trimester in prenatal di-agnostic.Method Using a questionnaire consisting of 18 questions in order to investigate the cognitive status and tendency of the pregnant on fetal DNA microarray technology.Results In the 250 copies of the questionnaire who have done,55.3% of them had a prenatal diagnosis,13.5% of them had an abortion because of the abnormal fetuses,12.5% of them had given birth a baby who had mental retardation and growth retardation,1 7% of them had an adverse pregnancy history of unexplained stillbirth and neonatal death,14% of them had an unexplained family history of genetic disease or chromosomal abnormalities, 34.6% of them conducted a karyotype analysis,51% of these pregnant women believe that all chromo-somal abnormalities can be found by karyotype analysis mistakenly.1 2 .3% had the knowledge of the fetal DNA chip,but only 5 .6% of them know that fetal DNA chip can detect the DNA microdeletions and mi-crorepeat which the karyotype analysis not.Only 4 .5% of the women had the knowledge that DNA mi-crodeletions and microrepeat may leat to mental retardation,growth retardation,organ deformities and dysfunction.Of which the women who had done the questionnaire,only 9 .8% of them who had the fetal structural abnormalities ultrasonic but the normal karyotype,willing to detect fetal chip,85%of the preg-nant women didn’t know the current chip can detect more than 100 kind of disease syndromes,663% of the women believed that a normal report of the fetal DNA chip mean an absolutely normal fetus. Conclusion It is not enough for the maternal women to understand the fetal DNA microarray technology, it needs more and more women to understand the health education in the pre-pregnancy or the first trimes-ter.This measure can guide the pregnant women what to do in the time of pregnancy,so that it can help the women who had a abnormal baby conducted a prenatal diagnosis in the first trimester,avoid the birth defects and reduce the gap between the expectation and the result of a healthy baby which cause the patient disputes.