胚胎停育與染色體異常的相關(guān)研究
發(fā)布時間：2018-08-08 11:15
【摘要】：研究內(nèi)容： 胚胎停育是一種嚴重影響婦女身心健康的疾病,發(fā)病率逐年上升,其發(fā)病原因非常復(fù)雜。目前國內(nèi)外對胚胎停育的相關(guān)研究有很多,大多認為胚胎停育與遺傳、解剖、感染、內(nèi)分泌、免疫、男性精液異常、環(huán)境因素、理化因素等等有關(guān),另外還有相當(dāng)一部分病因不明。其中遺傳因素是導(dǎo)致胚胎停育最為重要的因素,這一點已得到國內(nèi)外的公認。許多文獻報道胚胎停育自然流產(chǎn)的絨毛染色體異常率可達50%-70%,故對胚胎停育夫婦及流產(chǎn)絨毛的染色體研究非常重要。本研究擬對胚胎停育夫婦及流產(chǎn)絨毛進行染色體檢查,為尋找胚胎停育原因,對有胚胎停育史的夫婦進行再孕前遺傳咨詢,指導(dǎo)優(yōu)生優(yōu)育提供可靠的實驗室證據(jù)。 研究目的： 通過本研究,對造成胚胎停育的染色體異常方面因素進行細致及全面了解,從而為尋找胚胎停育病因的患者提供遺傳方面正確的檢查方案及遺傳學(xué)咨詢,指導(dǎo)優(yōu)生優(yōu)育。 研究方法： 1.對2012年1月-2013年12月在中心婦產(chǎn)科醫(yī)院門診就診要求查找胚胎停育病因的92對夫婦行外周靜脈血染色體核型分析。其中孕婦年齡35歲者43例,占46.7%,年齡35歲者49例,占53.3%。夫婦中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.依據(jù)92對夫婦意愿,對其中的49例清宮絨毛采用細胞培養(yǎng)法G顯帶核型分析對絨毛染色體核型進行分析。49例孕婦首次胚胎停育者23例,占46.9%,復(fù)發(fā)胚胎停育組(≥2次)26例,占53.0%。49例孕婦年齡≥35歲者21例,占42.8%,年齡35歲者28例,占57.1%。 研究結(jié)果： 1.92對夫婦(184人)其中外周血染色體異常者5例,異常比率為2.72%(5/184),其中男性異常2例(1.09%),女性異常3例(1.63%)。染色體異常者均為平衡易位,其中3例為相互易位,占異常染色體的60%(3/5),2例為羅伯遜易位,占異常的40%(2/5)。 2.49例清宮絨毛細胞培養(yǎng),失敗4例,成功培養(yǎng)45例,成功率91.8%。成功培養(yǎng)的45例絨毛染色體核型異常者25例,異常比率為55.5%(25/45)。其中染色體數(shù)目異常22例,占異常的88%(22/25),染色體結(jié)構(gòu)異常3例,占異常的12%(3/25)。染色體數(shù)目異常中染色體三體所占比率最大,為16例,占數(shù)目異常的72.7%(16/22)。染色體三體中16-三體最多,為5例,占三體的31.3%(5/16)。 3.復(fù)發(fā)胚胎停育組(≥2次)與首發(fā)胚胎停育組絨毛染色體異常率分別是58.3%和52.3%,兩組無統(tǒng)計學(xué)無差異(χ2=0.161,P0.05)。 4.孕婦年齡35歲組絨毛染色體異常率73.6%(14/19),年齡35歲組異常率42.3%(11/26),兩組比較有統(tǒng)計學(xué)差異(χ2=4.377,P0.05),故35歲孕婦絨毛染色體異常率明顯增高。 結(jié)論： 1.胚胎停育與流產(chǎn)絨毛染色體核型異常及患者夫婦雙方染色體異常有重要關(guān)系。 2.孕婦年齡35歲是造成絨毛染色體異常的重要高風(fēng)險因素,故年齡35歲的胚胎停育孕婦進行絨毛染色體篩查是更加重要的。 3.胚胎停育的絨毛染色體異常風(fēng)險與胚胎停育的次數(shù)無相關(guān)性。 4.根據(jù)染色體檢查結(jié)果可對胚胎停育患者再孕前進行遺傳咨詢和指導(dǎo),實現(xiàn)優(yōu)生優(yōu)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.
【學(xué)位授予單位】：天津醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R714.21
本文編號：2171619
[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.
【學(xué)位授予單位】：天津醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R714.21
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