超声软指标联合血清学筛查与羊穿后染色体异常相关性的回顾分析

发布时间：2018-03-06 17:24

本文选题：胎儿　切入点：超声软指标　出处：《重庆医科大学》2014年硕士论文　论文类型：学位论文

【摘要】：目的：本研究通过对胎儿检查不同种类和不同数量的超声软指标，并对母血血清进行早孕期、中孕期血清学筛查，研究其结果分别以及联合对胎儿染色体异常的相关性，进而对具有相关指标或高危因素的胎儿进行遗传咨询，从而对染色体产前诊断做指引，以便提高羊水穿刺或脐血穿刺等侵入性检查的阳性率，最终目的是为了减少染色体异常的胎儿的出生率。方法：对2011.9-2013.9两年间重庆市妇幼保健院所有接受检查的孕妇于孕早、中期进行高分辨彩色超声检查，检测与染色体异常有关的超声征象。对有超声软指标异常、年龄高危或血清学高风险值以及其他高风险的孕妇进行羊水或脐血穿刺术检查胎儿的染色体。统计各种超声软指标与染色体异常的相关性、以及其是否有地域差异，最终制作风险评估软件，从而让临床医生可根据超声软指标以及结构异常的不同种类和不同数量，给予不同孕妇不同的产前咨询意见或建议，提供必要且高效的侵入性检查，进而提高检查阳性率。结果：研究期间共筛查孕妇39560例，共筛查胎儿41790例，其中双胎2230例，均为非选择性病例，共检出软指标阳性2591例（6.2%）其中统计单个超声软指标1606例（62.1%），两个及以上软指标681例（26.3%），单个或多个软指标合并结构畸形300例（11.6%），血清学高风险410例中有88例染色体异常（21.4%）；软指标阳性或母体血清高危者行胎儿染色体检查4305例，染色体检查率10.9%，检出染色体异常的胎儿131例，其检出率为3.0%，与沿海发达地区基本一致，检出率较全国其他地区要高，本研究重庆地区发现的胎儿染色体异常，，共检出21-三体共54例，占所发现的染色体异常的40%，检出平衡异位45例，位居第二位，17例45XO，其他染色体异常15例。结论：通过超声软指标检查合并血清学筛查出的高风险值，证实其与非整倍体染色体病有关系的密切，部分单独存在的超声软指标与其关系较密切，部分单独出现的超声软指标与胎儿染色体异常的发生的机率相对较低，当出现2个以上软指标同时发生在同一胎儿时，胎儿发生染色体异常的几率将较一个软指标明显增加。通过超声软指标检查合并血清学联合筛查提高检查阳性率。
[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.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R714.5;R445.1

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