發(fā)布時間：2018-03-06 17:24

  本文選題：胎兒　切入點：超聲軟指標(biāo)　出處：《重慶醫(yī)科大學(xué)》2014年碩士論文　論文類型：學(xué)位論文

【摘要】：目的： 本研究通過對胎兒檢查不同種類和不同數(shù)量的超聲軟指標(biāo)，并對母血血清進行早孕期、中孕期血清學(xué)篩查，研究其結(jié)果分別以及聯(lián)合對胎兒染色體異常的相關(guān)性，進而對具有相關(guān)指標(biāo)或高危因素的胎兒進行遺傳咨詢，從而對染色體產(chǎn)前診斷做指引，以便提高羊水穿刺或臍血穿刺等侵入性檢查的陽性率，最終目的是為了減少染色體異常的胎兒的出生率。 方法： 對2011.9-2013.9兩年間重慶市婦幼保健院所有接受檢查的孕婦于孕早、中期進行高分辨彩色超聲檢查，檢測與染色體異常有關(guān)的超聲征象。對有超聲軟指標(biāo)異常、年齡高�；蜓鍖W(xué)高風(fēng)險值以及其他高風(fēng)險的孕婦進行羊水或臍血穿刺術(shù)檢查胎兒的染色體。統(tǒng)計各種超聲軟指標(biāo)與染色體異常的相關(guān)性、以及其是否有地域差異，最終制作風(fēng)險評估軟件，從而讓臨床醫(yī)生可根據(jù)超聲軟指標(biāo)以及結(jié)構(gòu)異常的不同種類和不同數(shù)量，給予不同孕婦不同的產(chǎn)前咨詢意見或建議，提供必要且高效的侵入性檢查，進而提高檢查陽性率。 結(jié)果： 研究期間共篩查孕婦39560例，共篩查胎兒41790例，其中雙胎2230例，均為非選擇性病例，共檢出軟指標(biāo)陽性2591例（6.2%）其中統(tǒng)計單個超聲軟指標(biāo)1606例（62.1%），兩個及以上軟指標(biāo)681例（26.3%），單個或多個軟指標(biāo)合并結(jié)構(gòu)畸形300例（11.6%），血清學(xué)高風(fēng)險410例中有88例染色體異常（21.4%）；軟指標(biāo)陽性或母體血清高危者行胎兒染色體檢查4305例，染色體檢查率10.9%，檢出染色體異常的胎兒131例，其檢出率為3.0%，與沿海發(fā)達地區(qū)基本一致，檢出率較全國其他地區(qū)要高，本研究重慶地區(qū)發(fā)現(xiàn)的胎兒染色體異常，，共檢出21-三體共54例，占所發(fā)現(xiàn)的染色體異常的40%，檢出平衡異位45例，位居第二位，17例45XO，其他染色體異常15例。 結(jié)論： 通過超聲軟指標(biāo)檢查合并血清學(xué)篩查出的高風(fēng)險值，證實其與非整倍體染色體病有關(guān)系的密切，部分單獨存在的超聲軟指標(biāo)與其關(guān)系較密切，部分單獨出現(xiàn)的超聲軟指標(biāo)與胎兒染色體異常的發(fā)生的機率相對較低，當(dāng)出現(xiàn)2個以上軟指標(biāo)同時發(fā)生在同一胎兒時，胎兒發(fā)生染色體異常的幾率將較一個軟指標(biāo)明顯增加。通過超聲軟指標(biāo)檢查合并血清學(xué)聯(lián)合篩查提高檢查陽性率。
[Abstract]:Objective:. In this study, we examined different types and numbers of ultrasonic soft indexes of fetus, and screened the serum of maternal blood in early pregnancy and during pregnancy, and studied the correlation of the results and the association with fetal chromosomal abnormalities. In order to improve the positive rate of invasive examination, such as amniocentesis or umbilical cord blood puncture, the fetuses with relevant indexes or high risk factors were given genetic counseling, so as to provide guidance for prenatal diagnosis of chromosomes. The ultimate goal is to reduce the birth rate of fetuses with chromosomal abnormalities. Methods:. All pregnant women examined by Chongqing Maternal and Child Health Hospital during the two years from January to March 2019 were examined by high-resolution color ultrasound in the first trimester and middle stage of pregnancy, and the ultrasonic signs related to chromosomal abnormalities were detected. The fetuses were examined by amniotic fluid or umbilical cord blood puncture with age high risk or serological high risk values and other high risk pregnant women. Finally, risk assessment software is developed so that clinicians can give different prenatal advice or advice to different pregnant women based on soft ultrasound indicators and different types and quantities of structural abnormalities, and provide necessary and efficient invasive examinations. Then the positive rate was increased. Results:. During the study period, a total of 39560 pregnant women were screened and 41790 fetuses were screened, including 2,230 twins, all of which were non-selective cases. A total of 2591 cases were found to be positive for soft markers.) among them, 1606 cases were detected by single soft index, 681 cases by two or more soft markers, 300 cases with structural malformation by single or more soft markers, 88 cases with chromosomal abnormalities in 410 cases with high risk of serology. There were 4305 fetuses with positive soft markers or high risk maternal serum. The chromosome examination rate was 10.9%, 131 fetuses with abnormal chromosomes were detected, the detection rate was 3.0%, which was basically the same as that in developed coastal areas, and the detection rate was higher than that in other regions of the country. A total of 54 cases of 21-trisomy were detected, accounting for 40% of chromosomal abnormalities, 45 cases of balanced ectopic, 17 cases of 45XO and 15 cases of other chromosomal abnormalities. Conclusion:. The high risk values of ultrasound soft markers combined with serological screening were confirmed to be closely related to aneuploidy chromosome disease, and some of the single ultrasound soft markers were closely related to them. Some of the ultrasonic soft markers appeared alone and the incidence of fetal chromosome abnormalities was relatively low, when more than two soft markers occurred simultaneously in the same fetus, The incidence of chromosomal abnormalities in fetuses will be significantly higher than that of a soft marker, and the positive rate will be increased by the combination of ultrasonic soft markers and serological screening.
【學(xué)位授予單位】：重慶醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R714.5;R445.1

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