18三体综合征产前诊断指征及相关高危因素分析
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摘要
目的探讨18三体综合征产前诊断指征及相关高危因素之间的关系。方法对染色体核型分析确诊的27例18三体综合征胎儿的临床资料进行回顾性总结分析。结果 27例18三体综合征中,有26例提示超声软指标异常(96.30%)、18例产前血清学筛查高风险(66.67%)、11例高龄孕妇(40.74%)、8例无创产前筛查高风险(29.63%)。超声软指标异常主要包括:脉络丛囊肿、心脏发育异常、单脐动脉、颈项部透明层增厚、鼻骨缺失、侧脑室增宽等。结论超声软指标异常在筛查胎儿18三体综合征中意义重大,临床工作中应重视超声软指标的应用,及时行介入性产前诊断,降低出生缺陷率。
Objective:To explore the relationship between the prenatal diagnosis and risk factors of 18 trisomatic syndrome. Methods:Of the 27 cases of 18 trisomatic syndrome,26 showed abnormal ultrasonic soft indicators(96.30%),18 cases of high risk of prenatal serological screening(66.67 %),11 cases of elderly pregnant women(40.74 %),and 8 cases of high risk of non-invasive prenatal screening(29.63 %). The abnormal ultrasonic soft index mainly includes:choroid plexus cyst,abnormal heart development,single umbilical artery,transparent layer thickening of the neck,nasal bone loss,side ventricle widening and so on. Results:Ultrasonic soft index anomaly is very important in screening fetal 18 trisomatic syndrome. In clinical work,we should pay attention to the application of ultrasonic soft index,timely interventional prenatal diagnosis,and reduce the birth defect rate.
Objective:To explore the relationship between the prenatal diagnosis and risk factors of 18 trisomatic syndrome. Methods:Of the 27 cases of 18 trisomatic syndrome,26 showed abnormal ultrasonic soft indicators(96.30%),18 cases of high risk of prenatal serological screening(66.67 %),11 cases of elderly pregnant women(40.74 %),and 8 cases of high risk of non-invasive prenatal screening(29.63 %). The abnormal ultrasonic soft index mainly includes:choroid plexus cyst,abnormal heart development,single umbilical artery,transparent layer thickening of the neck,nasal bone loss,side ventricle widening and so on. Results:Ultrasonic soft index anomaly is very important in screening fetal 18 trisomatic syndrome. In clinical work,we should pay attention to the application of ultrasonic soft index,timely interventional prenatal diagnosis,and reduce the birth defect rate.
引文
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[2]禤洁甜,梁彩红,伍启康.染色体核型分析和荧光原位杂交技术用于产前诊断的价值研究[J].吉林医学,2017,12:2220-2221.
[3]边旭明,邬玲仟,姜玉新.实用产前诊断学[M].第1版.北京:人民军医出版社,2008.
[4]夏燕,加米拉·热扎克,叶尔登切切克,等.羊水染色体异常核型和异常核型产前诊断指征分析[J].中国优生与遗传杂志,2018,11:54-55.
[5]王元白,周延安,施丽景,等.泉州市产前筛查及产前诊断现状调查分析[J].福建医药杂志,2016,1:20-21.
[6]郭晓玲,钟进,邓璐莎,等.胎儿超声软指标在诊断染色体异常中的应用价值[J].广东医学,2018,39(10):1513-1517.
[7]李秋玲,查艺葆.超声软指标在产前诊断胎儿染色体异常中的价值[J].中国优生与遗传杂志,2013,21(2):39-40.