胚胎停育与染色体异常的相关研究

发布时间：2018-08-08 11:15

【摘要】：研究内容：胚胎停育是一种严重影响妇女身心健康的疾病,发病率逐年上升,其发病原因非常复杂。目前国内外对胚胎停育的相关研究有很多,大多认为胚胎停育与遗传、解剖、感染、内分泌、免疫、男性精液异常、环境因素、理化因素等等有关,另外还有相当一部分病因不明。其中遗传因素是导致胚胎停育最为重要的因素,这一点已得到国内外的公认。许多文献报道胚胎停育自然流产的绒毛染色体异常率可达50%-70%,故对胚胎停育夫妇及流产绒毛的染色体研究非常重要。本研究拟对胚胎停育夫妇及流产绒毛进行染色体检查,为寻找胚胎停育原因,对有胚胎停育史的夫妇进行再孕前遗传咨询,指导优生优育提供可靠的实验室证据。研究目的：通过本研究,对造成胚胎停育的染色体异常方面因素进行细致及全面了解,从而为寻找胚胎停育病因的患者提供遗传方面正确的检查方案及遗传学咨询,指导优生优育。研究方法： 1.对2012年1月-2013年12月在中心妇产科医院门诊就诊要求查找胚胎停育病因的92对夫妇行外周静脉血染色体核型分析。其中孕妇年龄35岁者43例,占46.7%,年龄35岁者49例,占53.3%。夫妇中1次胚胎停育史者40例,占43.5%,2次及以上胚胎停育史者52例,占56.5%。 2.依据92对夫妇意愿,对其中的49例清宫绒毛采用细胞培养法G显带核型分析对绒毛染色体核型进行分析。49例孕妇首次胚胎停育者23例,占46.9%,复发胚胎停育组(≥2次)26例,占53.0%。49例孕妇年龄≥35岁者21例,占42.8%,年龄35岁者28例,占57.1%。研究结果： 1.92对夫妇(184人)其中外周血染色体异常者5例,异常比率为2.72%(5/184),其中男性异常2例(1.09%),女性异常3例(1.63%)。染色体异常者均为平衡易位,其中3例为相互易位,占异常染色体的60%(3/5),2例为罗伯逊易位,占异常的40%(2/5)。 2.49例清宫绒毛细胞培养,失败4例,成功培养45例,成功率91.8%。成功培养的45例绒毛染色体核型异常者25例,异常比率为55.5%(25/45)。其中染色体数目异常22例,占异常的88%(22/25),染色体结构异常3例,占异常的12%(3/25)。染色体数目异常中染色体三体所占比率最大,为16例,占数目异常的72.7%(16/22)。染色体三体中16-三体最多,为5例,占三体的31.3%(5/16)。 3.复发胚胎停育组(≥2次)与首发胚胎停育组绒毛染色体异常率分别是58.3%和52.3%,两组无统计学无差异(χ2=0.161,P0.05)。 4.孕妇年龄35岁组绒毛染色体异常率73.6%(14/19),年龄35岁组异常率42.3%(11/26),两组比较有统计学差异(χ2=4.377,P0.05),故35岁孕妇绒毛染色体异常率明显增高。结论： 1.胚胎停育与流产绒毛染色体核型异常及患者夫妇双方染色体异常有重要关系。 2.孕妇年龄35岁是造成绒毛染色体异常的重要高风险因素,故年龄35岁的胚胎停育孕妇进行绒毛染色体筛查是更加重要的。 3.胚胎停育的绒毛染色体异常风险与胚胎停育的次数无相关性。 4.根据染色体检查结果可对胚胎停育患者再孕前进行遗传咨询和指导,实现优生优育。
[Abstract]:Research content:
Embryo withdrawal is a disease which seriously affects the physical and mental health of women. The incidence of the disease is increasing year by year. The cause of the disease is very complicated. At present, there are many related studies on embryo withdrawal at home and abroad. Most of them think that embryo withdrawal and heredity, anatomy, infection, endocrinology, immunity, abnormal male semen, environmental factors, physicochemical factors and so on. A considerable number of causes are unknown. Genetic factors are the most important factors leading to embryo withdrawal. This has been recognized at home and abroad. Many reports have reported that the abnormal rate of chromosomes of the villi in aborted embryos is 50%-70%, so it is very important to study the chromosomes of the aborted couples and the aborted villi. In order to find out the reasons for embryo withdrawal, the couples who had embryo arrest and the aborted villi were examined for genetic counseling before pregnancy and provided reliable laboratory evidence for eugenics and eugenics.
The purpose of the study is:
Through this study, a detailed and comprehensive understanding of chromosomal abnormalities in embryo withdrawal is carried out in order to provide a correct genetic examination scheme and genetic counseling for the patients seeking the cause of embryo withdrawal, and to guide eugenics and nurture.
Research methods:
1. January 2012 -2013 December -2013 December in the central gynaecology and obstetrics hospital outpatient clinic request to find the cause of embryo arrest in 92 couples of peripheral venous blood chromosome karyotype analysis. Among them, 43 cases of pregnant women aged 35 years, 46.7% and 49 cases aged 35 years old, accounting for 40 cases of 1 embryo arrest history, 43.5%, 2 and above embryo withdrawal histories 52. For example, 56.5%.
2. according to the wishes of 92 couples, 49 cases of chorionic villi were analyzed by cell culture method G karyotype analysis to analyze the karyotype of the villus chromosomes in 23 cases, 23 cases, 46.9%, 26 cases of relapsed embryo arrest group (> 2 times), accounting for 21 cases of older pregnant women more than 35 years old, accounting for 42.8%, age 35 years of 28 cases, accounting for 57.1%..
The results of the study:
There were 5 cases of abnormal chromosome chromosomes in 1.92 couples (184), the abnormal ratio was 2.72% (5/184), of which 2 cases were abnormal in males (1.09%) and 3 in females (1.63%). The chromosomal abnormalities were all balanced translocation, of which 3 cases were translocation, 60% (3/5) of abnormal chromosomes, 2 cases were Robertson translocation, accounting for abnormal 40% (2/5).
In 2.49 cases of villous cell culture, 4 cases were failed and 45 cases were successfully cultured. 45 cases of chromosomal karyotype abnormalities were successfully cultivated in 91.8%.. The abnormal ratio was 55.5% (25/45). Among them, the number of chromosomes was abnormal in 22 cases, accounting for 88% (22/25), abnormal chromosome structure and 12% (3/25). The chromosomes were abnormal in chromosome number. The proportion of trisomy was the highest, accounting for 16 cases, accounting for 72.7% (16/22) of the abnormal number. The number of trisomy 16-trisomy was the highest, accounting for 5 cases, accounting for 31.3% (5/16) of the trisomy.
3. Chromosome abnormality rates of villi in the recurrent embryo cessation group (> 2 times) and the first embryo cessation group were 58.3% and 52.3%, respectively. There was no significant difference between the two groups (_2 = 0.161, P 0.05).
4. the abnormal rate of villous chromosomes was 73.6% (14/19) in the 35 year old group and 42.3% (11/26) in the 35 year old group. The two groups had a statistically significant difference (x 2=4.377, P0.05), so the abnormal rate of villus chromosomes in 35 year old pregnant women was significantly higher.
Conclusion:
1. there is an important relationship between embryo arrest and abnormal chromosome karyotype and chromosomal abnormality in couples.
2. the age of 35 years of pregnant women is an important risk factor for the abnormal villous chromosomes, so it is more important to screen the villous chromosomes for the pregnant women aged 35 years.
3. the risk of villus chromosome abnormalities in embryo arrest is not related to the frequency of embryo withdrawal.
4. according to the results of chromosome examination, genetic counseling and guidance can be carried out before embryo withdrawal for patients with embryo arrest.
【学位授予单位】：天津医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R714.21

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