本文選題：唐氏綜合征 + 早孕期產(chǎn)前篩查��； 參考：《昆明醫(yī)科大學(xué)》2014年碩士論文

【摘要】：目的評(píng)價(jià)妊娠11+0-13+6周期間,聯(lián)合孕婦年齡、胎兒頸項(xiàng)透明層厚度(nuchal translucency,NT).孕婦血清游離p-人類絨毛膜促性腺激素(freeβ human chorionic gonadotr-opin,Fβ-hCG)和妊娠相關(guān)血漿蛋白-A(pregnancy-associated plasma protein-A,PAPP-A)的一站式臨床風(fēng)險(xiǎn)評(píng)估(one stop clinic for assessment of risk,OSCAR)方法用于唐氏綜合征篩查在中國(guó)大陸的臨床應(yīng)用；建立昆明地區(qū)早孕期孕婦血清Fβ-hCG和PAPP-A的中位數(shù)值,為進(jìn)一步提高篩查效率提供科學(xué)依據(jù)。 材料和方法1.以2012年5月7日至2013年10月09日期間到昆明醫(yī)科大學(xué)第一附屬醫(yī)院行早孕期胎兒NT聯(lián)合孕婦血清Fβ-hCG和PAPP-A OSCAR唐氏綜合征產(chǎn)前篩查的孕婦為研究對(duì)象,記錄孕婦一般篩查資料,按照英國(guó)胎兒醫(yī)學(xué)基金會(huì)(fetal medicine foundation,FF)指南測(cè)量胎兒頭臀長(zhǎng)(crown-rump length,CRL)和NT,采用化學(xué)發(fā)光法檢測(cè)孕婦血清Fβ-hCG與PAPP-A濃度。2.將NT測(cè)量值、Fβ-hCG與PAPP-A濃度轉(zhuǎn)化為中位數(shù)倍數(shù)(multiple of the median,MoM),再根據(jù)孕婦體重、是否吸煙、受孕方式、雙胎絨毛膜性等因素進(jìn)行校正。3.利用香港中文大學(xué)婦產(chǎn)科學(xué)系胎兒醫(yī)學(xué)中心OSCAR篩查軟件得到孕婦可能孕育21、18、13-三體胎兒的風(fēng)險(xiǎn)值,風(fēng)險(xiǎn)值≥1/600為高風(fēng)險(xiǎn),介于1/600與1/1600為臨界風(fēng)險(xiǎn),(1/1600為低風(fēng)險(xiǎn)；對(duì)篩查高風(fēng)險(xiǎn)者建議行侵入性產(chǎn)前診斷,臨界風(fēng)險(xiǎn)行母血游離胎兒DNA無(wú)創(chuàng)性產(chǎn)前檢鋇(non-invasive prenatal testing,NIPT).4.定期參加英國(guó)胎兒醫(yī)學(xué)基金會(huì)(fetal medicine foundation,FMF)超聲審計(jì)及英國(guó)國(guó)家外部質(zhì)量評(píng)估服務(wù)(United Kingdom National External Quality Assessment,UKNEQAS)實(shí)驗(yàn)室質(zhì)量控制審計(jì)。5.全部研究對(duì)象隨訪妊娠結(jié)局。6.計(jì)算OSCAR唐氏綜合征產(chǎn)前篩查的檢出率(detection rate, DR)、假陽(yáng)性率(false positive rate,FPR)評(píng)價(jià)篩查效率。7.在排除胎兒染色體異常、結(jié)構(gòu)畸形、自然流產(chǎn)、圍產(chǎn)期死亡、終止妊娠及失訪病例后,采用曲線估計(jì)方法,擬建3781例單胎初產(chǎn)自然受孕非吸煙孕婦Fβ-hCG與PAPP-A中位數(shù)與孕齡的最優(yōu)方程模型,建立昆明地區(qū)早孕期Fβ-hCG與PAPP-A的預(yù)期中位數(shù)。 結(jié)果1.研究期間,共有4886例孕婦納入OSCAR唐氏綜合征產(chǎn)前篩查研究,孕婦平均分娩年齡29.29±3.85歲,成功隨訪4717(96.54%)例,失訪169(3.46%)例,在可隨訪病例中,有152(3.22%)例發(fā)生不良妊娠結(jié)局。2.本研究期間共檢出6例21-三體、2例18-三體和4例其他染色體異常；發(fā)現(xiàn)1例XYY綜合征為假陰性(風(fēng)險(xiǎn)值：1/965)。3.OSCAR產(chǎn)前篩查的FPR為5.89%,對(duì)21、18、13-三體的檢出率均為100%,所有非整倍體的檢出率為92.31%。4.采用高風(fēng)險(xiǎn)、臨界風(fēng)險(xiǎn)、低風(fēng)險(xiǎn)對(duì)風(fēng)險(xiǎn)值三分類,臨界風(fēng)險(xiǎn)推薦行NIPT檢測(cè),能有效提升染色體異常胎兒的檢出。5.本研究期間,未發(fā)生中孕期羊水穿刺胎兒流產(chǎn)。6.本研究人群出生缺陷發(fā)生率為1.00%(47/4717)。7.孕婦Fβ-hCG.PAPP-A中位數(shù)與孕齡的最優(yōu)方程分別為Median Free β-hCG=70.42+0.142*day.0.00005907*day3；Median PAPP-A=e(-4.424+0.068*day)。 結(jié)論1.OSCAR唐氏綜合征篩查是一種高效、經(jīng)濟(jì)、安全的產(chǎn)前篩查方法。其篩查的高效性依賴于嚴(yán)格的實(shí)驗(yàn)室質(zhì)量控制、超聲醫(yī)師正規(guī)培訓(xùn),以及對(duì)各篩查指標(biāo)動(dòng)態(tài)監(jiān)督審核。2.初步建立昆明地區(qū)早孕期孕婦血清Fβ-hCG與PAPP-A中位數(shù)。
[Abstract]:Objective to evaluate the 11+0-13+6 weeks of pregnancy, the age of the pregnant women, the nuchal translucency (NT) of the fetal neck (NT), and the one-stop clinic of pregnant women's serum free p- human chorionic gonadotropin (free beta human chorionic gonadotr-opin, F beta -hCG) and pregnancy related plasma protein -A. The risk assessment (one stop clinic for assessment of risk, OSCAR) method is used for the clinical application of Down's syndrome screening in the mainland of China; the median value of serum F beta -hCG and PAPP-A in pregnant women of early pregnancy in Kunming is established to provide a scientific basis for further improvement of screening efficiency.
Materials and methods 1. from May 7, 2012 to 09 October 2013 to the First Affiliated Hospital of Kunming Medical University, pregnant women who were pregnant with NT combined with pregnant women's serum F beta -hCG and PAPP-A OSCAR Down's syndrome were screened for prenatal screening, and the general screening data of pregnant women were recorded, according to the British fetal Medical Foundation (fetal medicine foundat). Ion, FF) guide measurement of fetal head and hip length (crown-rump length, CRL) and NT, using chemiluminescence method to detect F beta -hCG and.2. of PAPP-A concentration.2. NT measurement value. The correction.3. uses the OSCAR screening software of the fetal medical center of the Department of Obstetrics and Gynecology of Chinese University Hong Kong to get the risk value of pregnant 21,18,13- triad foetus, the risk value is higher than 1/600, the critical risk is between 1/600 and 1/1600, (1/1600 is a low risk; the invasive prenatal diagnosis is recommended for high-risk patients, and the critical risk is the mother. " Non-invasive prenatal testing, NIPT.4. regularly participates in the UK fetal Medical Foundation (fetal medicine foundation, FMF) and the UK national external quality assessment service (United Kingdom) laboratory quality control audit The detection rate of OSCAR Down's syndrome (detection rate, DR), false positive rate (false positive rate, FPR) evaluation of the screening efficiency (false positive rate, FPR),.6., was used to estimate the rate of screening for the pregnancy outcome (false positive rate, FPR). The curve estimation method was used to build 3781 of the fetal chromosomal abnormalities, structural malformations, spontaneous abortion, perinatal death, termination of pregnancy and lost visits. The median of F beta -hCG and PAPP-A in early pregnancy of Kunming region was established by the optimal equation model of the median of F beta -hCG and PAPP-A and gestational age in non smoking pregnant women with single birth.
Results during the 1. study, 4886 pregnant women were included in the prenatal screening study of OSCAR Down's syndrome. The average birth age of pregnant women was 29.29 + 3.85 years, 4717 (96.54%) cases were successfully followed up and 169 (3.46%) cases were lost. In the follow-up cases, 152 (3.22%) cases of adverse pregnancy junction.2. were detected in 6 21- trisomy, 2 18- trisomy and 4 cases. He found that 1 cases of XYY syndrome were false negative (risk value: 1/965).3.OSCAR prenatal screening, FPR was 5.89%, and the detection rate of 21,18,13- trisomy was 100%. The detection rate of all aneuploidy was 92.31%.4. with high risk, critical risk, low risk to risk value three, critical risk recommended NIPT detection, can be effectively promoted. The detection of fetal chromosomal abnormalities during the.5. study, there was no fetal abortion during the middle pregnancy. The incidence of birth defects was 1% (47/4717). The median of F beta -hCG.PAPP-A and gestational age of pregnant women were Median Free beta -hCG=70.42+0.142* day.0.00005907*day3 and Median PAPP-A=e (47/4717), respectively.
Conclusion 1.OSCAR Down's syndrome screening is an efficient, economical and safe prenatal screening method. The efficiency of screening depends on strict laboratory quality control, regular training of ultrasound physicians, and dynamic monitoring and auditing of various screening indicators to establish the median of serum F beta -hCG and PAPP-A in pregnant women of early pregnancy in Kunming.
【學(xué)位授予單位】：昆明醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R714.5

【參考文獻(xiàn)】

相關(guān)期刊論文 前7條

1 李玉芝;任景慧;林琳華;姚秋璇;袁紅;郭輝;李啟運(yùn);何薇;張紅云;王威;;大規(guī)模并行基因組測(cè)序技術(shù)應(yīng)用于無(wú)創(chuàng)產(chǎn)前診斷染色體非整倍體的研究[J];華中科技大學(xué)學(xué)報(bào)(醫(yī)學(xué)版);2012年04期

2 陳志;曾照芳;;孕婦妊娠9～13周時(shí)血清PAPP-A和Fβ-HCG的中位數(shù)分析[J];生物數(shù)學(xué)學(xué)報(bào);2007年03期

3 張淑貞;劉華儉;楊銀廣;周玉玲;鐘春華;袁秀英;;早孕期一站式唐氏綜合征篩查的應(yīng)用價(jià)值研究[J];中國(guó)醫(yī)藥指南;2010年31期

4 王瑩;任景慧;林琳華;郭輝;姚秋璇;李啟運(yùn);蘇放明;;孕早中期唐氏綜合征篩查及297例介入產(chǎn)前診斷數(shù)據(jù)分析[J];中國(guó)婦幼保健;2010年20期

5 王雅蓀;羅軍;王慧;徐慧君;沈kH忱;孟文珍;沈穎華;潘順;;孕中期11297例母血篩查胎兒唐氏綜合征臨床分析[J];中國(guó)優(yōu)生與遺傳雜志;2007年01期

6 袁暉;王宏;羅福薇;歐陽(yáng)淑媛;吳曉霞;王晨虹;;深圳地區(qū)44147例唐氏篩查臨床分析[J];中國(guó)優(yōu)生與遺傳雜志;2012年05期

7 程霞;;NT聯(lián)合F-βhCG及PAPP-A在妊娠早期唐氏綜合征診斷中的臨床研究[J];中國(guó)實(shí)驗(yàn)診斷學(xué);2013年09期

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