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早孕期唐氏综合征一站式临床风险评估及孕妇血清Fβ-hCG与PAPP-A中位数的建立

发布时间:2018-06-19 03:00

  本文选题:唐氏综合征 + 早孕期产前筛查 ; 参考:《昆明医科大学》2014年硕士论文


【摘要】:目的评价妊娠11+0-13+6周期间,联合孕妇年龄、胎儿颈项透明层厚度(nuchal translucency,NT).孕妇血清游离p-人类绒毛膜促性腺激素(freeβ human chorionic gonadotr-opin,Fβ-hCG)和妊娠相关血浆蛋白-A(pregnancy-associated plasma protein-A,PAPP-A)的一站式临床风险评估(one stop clinic for assessment of risk,OSCAR)方法用于唐氏综合征筛查在中国大陆的临床应用;建立昆明地区早孕期孕妇血清Fβ-hCG和PAPP-A的中位数值,为进一步提高筛查效率提供科学依据。 材料和方法1.以2012年5月7日至2013年10月09日期间到昆明医科大学第一附属医院行早孕期胎儿NT联合孕妇血清Fβ-hCG和PAPP-A OSCAR唐氏综合征产前筛查的孕妇为研究对象,记录孕妇一般筛查资料,按照英国胎儿医学基金会(fetal medicine foundation,FF)指南测量胎儿头臀长(crown-rump length,CRL)和NT,采用化学发光法检测孕妇血清Fβ-hCG与PAPP-A浓度。2.将NT测量值、Fβ-hCG与PAPP-A浓度转化为中位数倍数(multiple of the median,MoM),再根据孕妇体重、是否吸烟、受孕方式、双胎绒毛膜性等因素进行校正。3.利用香港中文大学妇产科学系胎儿医学中心OSCAR筛查软件得到孕妇可能孕育21、18、13-三体胎儿的风险值,风险值≥1/600为高风险,介于1/600与1/1600为临界风险,(1/1600为低风险;对筛查高风险者建议行侵入性产前诊断,临界风险行母血游离胎儿DNA无创性产前检钡(non-invasive prenatal testing,NIPT).4.定期参加英国胎儿医学基金会(fetal medicine foundation,FMF)超声审计及英国国家外部质量评估服务(United Kingdom National External Quality Assessment,UKNEQAS)实验室质量控制审计。5.全部研究对象随访妊娠结局。6.计算OSCAR唐氏综合征产前筛查的检出率(detection rate, DR)、假阳性率(false positive rate,FPR)评价筛查效率。7.在排除胎儿染色体异常、结构畸形、自然流产、围产期死亡、终止妊娠及失访病例后,采用曲线估计方法,拟建3781例单胎初产自然受孕非吸烟孕妇Fβ-hCG与PAPP-A中位数与孕龄的最优方程模型,建立昆明地区早孕期Fβ-hCG与PAPP-A的预期中位数。 结果1.研究期间,共有4886例孕妇纳入OSCAR唐氏综合征产前筛查研究,孕妇平均分娩年龄29.29±3.85岁,成功随访4717(96.54%)例,失访169(3.46%)例,在可随访病例中,有152(3.22%)例发生不良妊娠结局。2.本研究期间共检出6例21-三体、2例18-三体和4例其他染色体异常;发现1例XYY综合征为假阴性(风险值:1/965)。3.OSCAR产前筛查的FPR为5.89%,对21、18、13-三体的检出率均为100%,所有非整倍体的检出率为92.31%。4.采用高风险、临界风险、低风险对风险值三分类,临界风险推荐行NIPT检测,能有效提升染色体异常胎儿的检出。5.本研究期间,未发生中孕期羊水穿刺胎儿流产。6.本研究人群出生缺陷发生率为1.00%(47/4717)。7.孕妇Fβ-hCG.PAPP-A中位数与孕龄的最优方程分别为Median Free β-hCG=70.42+0.142*day.0.00005907*day3;Median PAPP-A=e(-4.424+0.068*day)。 结论1.OSCAR唐氏综合征筛查是一种高效、经济、安全的产前筛查方法。其筛查的高效性依赖于严格的实验室质量控制、超声医师正规培训,以及对各筛查指标动态监督审核。2.初步建立昆明地区早孕期孕妇血清Fβ-hCG与PAPP-A中位数。
[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.
【学位授予单位】:昆明医科大学
【学位级别】:硕士
【学位授予年份】:2014
【分类号】:R714.5

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