中晚孕期胎儿超声检测结果异常与染色体异常的相关分析
发布时间：2018-01-21 13:38
本文关键词： 超声 软指标 颜面部畸形 染色体 出处：《安徽医科大学》2017年硕士论文 论文类型：学位论文
【摘要】：目的1.探讨中晚孕期产前超声用于检测出胎儿异常的临床应用价值;研究产前超声检测结果异常在预测染色体异常方面的价值2.探讨超声在诊断胎儿颜面部畸形中的应用价值及胎儿颜面部畸形在预测染色体异常方面的价值。方法1.对2015年3月~2016年12月在海军总医院超声医学科进行产前筛查的5439例孕妇利用多切面多角度进行系统的超声筛查,超声提示结构畸形和软指标者,记录其姓名、年龄、孕周、孕次产次、超声检查结果、有无进行羊水穿刺、脐血穿刺或无创DNA检查及染色体核型分析结果、血清学筛查结果、有无化学毒物接触史、孕期服用药物史、先天异常家族史。回顾分析结构畸形、超声软指标的种类、例数及其与染色体异常的关系。2.对2014年3月~2016年12月在海军总医院超声科进行产前筛查的孕妇中超声诊断为颜面部畸形的28例胎儿的畸形种类、例数及染色体核型结果进行回顾性分析。结果1.(1)5439例孕妇中筛查出138例结构畸形,并进行侵入性染色体检查,其中21例为多发畸形(两个或两个以上器官的结构畸形),余117例为单一畸形,117例单发结构畸形包括泌尿系统畸形17例,先天性心脏病40例,胸腹部畸形28例,肢体畸形例11例,中枢神经系统畸形14例,颜面部畸形7例。117例单一畸形中有7例21-三体,3例染色体多态,1例三倍体。21例多发畸形中有3例18-三体,4例21-三体。结构畸形胎儿染色体异常率明显高于无结构畸形胎儿染色体异常率(p0.05,差异有统计学意义)。多发结构畸形涉及的系统数目与染色体异常的发生率呈正相关。结构畸形中的单心室(or:8.1,5.2~12.6)、单心房(or:8.1,5.2~12.6)、永存动脉干(or:14.9,1.3~173.5)、心内膜垫缺损(or:11.1,2.3~55.0)、主动脉弓离断(or:3.4,0.3~39.3)、脊柱裂(or:3.4,0.3~39.3)、脑积水(or:4.6,1.0~21.2)、小头畸形伴胼胝体缺如(or:8.1,5.2~12.6)、叶状全前脑(or:8.1,5.2~12.6)、唇腭裂(or:11.5,3.0~43.4)、耳低位(or:8.1,5.2~12.6)、小下颌(or:8.1,5.2~12.6)、四肢短小(or:8.1,5.2~12.6)、肢体发育异常(or:3.4,0.3~39.3)单独存在可以增加胎儿发生染色体异常的风险。(2)产前超声检测出胎儿软指标1178例,其中单一软指标1013例,多发软指标165例,单一软指标包括心室点状强回声544例,侧脑室增宽52例,肾盂增宽139例,小脑延髓池增宽50例,长骨短小15例,肠管回声增强42例,脉络丛囊肿39例,眶间距增宽12例,单脐动脉17例,鼻骨缺失1例,三尖瓣反流80例,nf增厚6例,肠管扩张9例,右脐静脉(肝内型)7例。单一超声软指标对染色体异常的检出率明显低于多个超声软指标(p0.05,差异有统计学意义)。各软指标检出21-三体的阳性似然比由大到小前三位依次是:鼻骨短小或缺失(12.739)、肠管回声增强(7.633)、侧脑室增宽(4.237)。各软指标检出18-三体的效能由高到低前三位依次是:鼻骨短小或缺失(敏感度66.67,阳性预测值50.00)、单脐动脉(敏感度66.67,阳性预测值25.00)、脉络丛囊肿(敏感度66.67,阳性预测值20.00)。2.(1)本研究中的7562例中,检出胎儿颜面部畸形28例(0.37%),对比引产后大体标本或电话随访,超声诊断漏诊或误诊率为0;(2)本研究中检出的28例胎儿颜面部畸形包括唇腭裂、小下颌畸形、耳低位、无眼畸形、鼻骨缺失、正中唇裂,其中24例行染色体检查,结果16例为正常(66.7%),4例羊水穿刺证实为18三体(16.7%),2例为21三体(8.3%),1例为三倍体(4.2%),1例为多态(4.2%)。颜面部畸形与具备高危因素但颜面部正常的胎儿染色体异常发生率的比较具有统计学意义。结论1.正常胎儿异常核型的发生率低于结构畸形胎儿;单一结构畸形的异常核型的发生率低于多发结构畸形;2.多发结构畸形涉及的系统数目越多,染色体异常的发生率越大;3.结构畸形中的单心室、单心房、永存动脉干、心内膜垫缺损、主动脉弓离断、脊柱裂、脑积水、小头畸形伴胼胝体缺如、叶状全前脑、唇腭裂、耳低位、小下颌、四肢短小、肢体发育异常单独存在可以增加胎儿发生染色体异常的风险;4.单一超声软指标异常核型的发生率低于多发超声软指标;5.各软指标检出21-三体的阳性似然比由大到小前三位依次是:鼻骨短小或缺失、肠管回声增强、侧脑室增宽;6.各软指标检出18-三体的效能由高到低前三位依次是:鼻骨短小或缺失、单脐动脉、脉络丛囊肿;7.超声对胎儿异常的检出,对染色体异常起到预测作用;8.超声对于胎儿颜面部畸形的检测有着重要的意义,胎儿颜面部畸形与胎儿染色体异常存在着相关性,检出胎儿颜面部畸形者有必要做进一步的染色体检查。
[Abstract]:Objective: 1. to investigate late pregnancy prenatal ultrasound to detect fetal abnormalities, clinical application value of prenatal ultrasound detection; abnormal results in the prediction of chromosomal abnormalities at the value of 2. application value of ultrasound in the diagnosis of fetal facial malformations in fetal facial malformations and chromosomal abnormalities in the prediction value. 1. in March 2015 ~2016 December prenatal screening in medical ultrasound department of Navy General Hospital of 5439 cases of pregnant women using multi angle multi section ultrasound screening system, ultrasound showed structural abnormalities and soft index, recorded the name, age, gestational age, gravidity parity, ultrasound examination results, there is no amniocentesis or umbilical cord puncture, noninvasive examination and chromosome DNA the results of karyotype analysis, results of serological screening, has no poison contact history, pregnancy medication history, family history of congenital anomalies. Retrospective analysis structural abnormalities, Types of ultrasonic soft indexes,.2. cases and its relationship with chromosome abnormalities in March 2014 ~2016 years in December for prenatal screening of pregnant women in Navy General Hospital Department of ultrasound in ultrasound diagnosis of 28 cases of fetal malformation type facial anomalies, the number of cases and karyotype results were retrospectively analyzed. Results 1. (1) of 5439 cases of pregnant women in the screening of 138 cases of abnormality and invasive chromosome examination, including 21 cases of multiple malformations (two or more than two, more than 117 organs malformation) were single malformation, 117 cases with solitary malformations including 17 cases with urinary system malformation, 40 cases of congenital heart disease, chest 28 cases of abdominal malformation, 11 cases of limb malformation cases, 14 cases of central nervous system malformation, 7 cases with facial deformity.117 cases of single malformation in 7 cases of trisomy 21-, 3 cases of chromosome polymorphism, 1 cases of triploid.21 cases multiple malformations in 3 cases of trisomy 18-, 4 cases of trisomy 21- structure. Deformity of fetal chromosome abnormality rate was significantly higher than that of non structural abnormalities of fetal chromosome abnormality rate (P0.05, the difference was statistically significant. The number of chromosomes) system with multiple structural abnormalities involving the abnormality rate was positively correlated. The structure of single ventricle malformation (or:8.1,5.2~12.6), single atrium (or:8.1,5.2~12.6), truncus arteriosus (or:14.9,1.3~173.5), heart endocardial cushion defect (or:11.1,2.3~55.0), interrupted aortic arch (or:3.4,0.3~39.3), spina bifida (or:3.4,0.3~39.3), hydrocephalus (or:4.6,1.0~21.2), microcephaly associated with agenesis of corpus callosum (or:8.1,5.2~12.6), holoprosencephaly (or:8.1,5.2~12.6), a cleft lip and palate (or:11.5,3.0~43.4), low (or:8.1,5.2~12.6), small ears, short limbs mandible (or:8.1,5.2~12.6) (or:8.1,5.2~12.6), dysmelia (or:3.4,0.3~39.3) alone can increase the risk of fetal chromosomal abnormalities. (2) the prenatal ultrasound detection of fetal 杞寚鏍，
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