發(fā)布時間：2018-01-21 13:38

  本文關(guān)鍵詞： 超聲 軟指標 顏面部畸形 染色體　出處：《安徽醫(yī)科大學》2017年碩士論文　論文類型：學位論文

【摘要】：目的1.探討中晚孕期產(chǎn)前超聲用于檢測出胎兒異常的臨床應(yīng)用價值;研究產(chǎn)前超聲檢測結(jié)果異常在預測染色體異常方面的價值2.探討超聲在診斷胎兒顏面部畸形中的應(yīng)用價值及胎兒顏面部畸形在預測染色體異常方面的價值。方法1.對2015年3月~2016年12月在海軍總醫(yī)院超聲醫(yī)學科進行產(chǎn)前篩查的5439例孕婦利用多切面多角度進行系統(tǒng)的超聲篩查,超聲提示結(jié)構(gòu)畸形和軟指標者,記錄其姓名、年齡、孕周、孕次產(chǎn)次、超聲檢查結(jié)果、有無進行羊水穿刺、臍血穿刺或無創(chuàng)DNA檢查及染色體核型分析結(jié)果、血清學篩查結(jié)果、有無化學毒物接觸史、孕期服用藥物史、先天異常家族史�；仡櫡治鼋Y(jié)構(gòu)畸形、超聲軟指標的種類、例數(shù)及其與染色體異常的關(guān)系。2.對2014年3月~2016年12月在海軍總醫(yī)院超聲科進行產(chǎn)前篩查的孕婦中超聲診斷為顏面部畸形的28例胎兒的畸形種類、例數(shù)及染色體核型結(jié)果進行回顧性分析。結(jié)果1.(1)5439例孕婦中篩查出138例結(jié)構(gòu)畸形,并進行侵入性染色體檢查,其中21例為多發(fā)畸形(兩個或兩個以上器官的結(jié)構(gòu)畸形),余117例為單一畸形,117例單發(fā)結(jié)構(gòu)畸形包括泌尿系統(tǒng)畸形17例,先天性心臟病40例,胸腹部畸形28例,肢體畸形例11例,中樞神經(jīng)系統(tǒng)畸形14例,顏面部畸形7例。117例單一畸形中有7例21-三體,3例染色體多態(tài),1例三倍體。21例多發(fā)畸形中有3例18-三體,4例21-三體。結(jié)構(gòu)畸形胎兒染色體異常率明顯高于無結(jié)構(gòu)畸形胎兒染色體異常率(p0.05,差異有統(tǒng)計學意義)。多發(fā)結(jié)構(gòu)畸形涉及的系統(tǒng)數(shù)目與染色體異常的發(fā)生率呈正相關(guān)。結(jié)構(gòu)畸形中的單心室(or:8.1,5.2~12.6)、單心房(or:8.1,5.2~12.6)、永存動脈干(or:14.9,1.3~173.5)、心內(nèi)膜墊缺損(or:11.1,2.3~55.0)、主動脈弓離斷(or:3.4,0.3~39.3)、脊柱裂(or:3.4,0.3~39.3)、腦積水(or:4.6,1.0~21.2)、小頭畸形伴胼胝體缺如(or:8.1,5.2~12.6)、葉狀全前腦(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)、小下頜(or:8.1,5.2~12.6)、四肢短小(or:8.1,5.2~12.6)、肢體發(fā)育異常(or:3.4,0.3~39.3)單獨存在可以增加胎兒發(fā)生染色體異常的風險。(2)產(chǎn)前超聲檢測出胎兒軟指標1178例,其中單一軟指標1013例,多發(fā)軟指標165例,單一軟指標包括心室點狀強回聲544例,側(cè)腦室增寬52例,腎盂增寬139例,小腦延髓池增寬50例,長骨短小15例,腸管回聲增強42例,脈絡(luò)叢囊腫39例,眶間距增寬12例,單臍動脈17例,鼻骨缺失1例,三尖瓣反流80例,nf增厚6例,腸管擴張9例,右臍靜脈(肝內(nèi)型)7例。單一超聲軟指標對染色體異常的檢出率明顯低于多個超聲軟指標(p0.05,差異有統(tǒng)計學意義)。各軟指標檢出21-三體的陽性似然比由大到小前三位依次是:鼻骨短小或缺失(12.739)、腸管回聲增強(7.633)、側(cè)腦室增寬(4.237)。各軟指標檢出18-三體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,陽性預測值50.00)、單臍動脈(敏感度66.67,陽性預測值25.00)、脈絡(luò)叢囊腫(敏感度66.67,陽性預測值20.00)。2.(1)本研究中的7562例中,檢出胎兒顏面部畸形28例(0.37%),對比引產(chǎn)后大體標本或電話隨訪,超聲診斷漏診或誤診率為0;(2)本研究中檢出的28例胎兒顏面部畸形包括唇腭裂、小下頜畸形、耳低位、無眼畸形、鼻骨缺失、正中唇裂,其中24例行染色體檢查,結(jié)果16例為正常(66.7%),4例羊水穿刺證實為18三體(16.7%),2例為21三體(8.3%),1例為三倍體(4.2%),1例為多態(tài)(4.2%)。顏面部畸形與具備高危因素但顏面部正常的胎兒染色體異常發(fā)生率的比較具有統(tǒng)計學意義。結(jié)論1.正常胎兒異常核型的發(fā)生率低于結(jié)構(gòu)畸形胎兒;單一結(jié)構(gòu)畸形的異常核型的發(fā)生率低于多發(fā)結(jié)構(gòu)畸形;2.多發(fā)結(jié)構(gòu)畸形涉及的系統(tǒng)數(shù)目越多,染色體異常的發(fā)生率越大;3.結(jié)構(gòu)畸形中的單心室、單心房、永存動脈干、心內(nèi)膜墊缺損、主動脈弓離斷、脊柱裂、腦積水、小頭畸形伴胼胝體缺如、葉狀全前腦、唇腭裂、耳低位、小下頜、四肢短小、肢體發(fā)育異常單獨存在可以增加胎兒發(fā)生染色體異常的風險;4.單一超聲軟指標異常核型的發(fā)生率低于多發(fā)超聲軟指標;5.各軟指標檢出21-三體的陽性似然比由大到小前三位依次是:鼻骨短小或缺失、腸管回聲增強、側(cè)腦室增寬;6.各軟指標檢出18-三體的效能由高到低前三位依次是:鼻骨短小或缺失、單臍動脈、脈絡(luò)叢囊腫;7.超聲對胎兒異常的檢出,對染色體異常起到預測作用;8.超聲對于胎兒顏面部畸形的檢測有著重要的意義,胎兒顏面部畸形與胎兒染色體異常存在著相關(guān)性,檢出胎兒顏面部畸形者有必要做進一步的染色體檢查。
[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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