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目的探讨自然流产或死胎死产胎儿组织染色体异常发生情况。方法采用FISH技术对100例妊娠前三个月、中三个月和后三个月自然流产或死胎死产胎儿组织进行染色体数目检测。结果 100例样本检测全部成功,检出染色体数目异常病例45例,异常率45%,异常类型主要为16三体(20.00%),XO(17.78%)和XXY(17.78%),孕妇妊娠前、中、后三个月自然流产或死胎死产的发生率分别为60%、37.78%和2.22%。孕妇不同年龄组间(<35岁和≥35岁)和不同既往流产次数(0次、1次和≥2次)组间的染色体异常率差异并无统计学意义(P>0.05)。结论染色体数目异常是导致自然流产的重要因素之一,FISH技术是一种快速准确的分子诊断技术,对自然流产的病因明确、诊断及再次妊娠指导具有重要应用价值。
Objective To investigate the occurrence of fetal chromosomal abnormalities in spontaneous abortion or stillbirths. Methods FISH was used to detect the number of chromosomes in 100 fetuses of spontaneous abortion or stillbirth in the first trimester, the third trimester and the third trimester of pregnancy. Results All the 100 samples were detected successfully. Among 45 cases with abnormal chromosome number, the abnormality rate was 45%, the abnormal type was mainly 16 trisomy 20, XO 17.78% and XXY 17.78% The incidence of spontaneous abortion or stillbirth in the last three months was 60%, 37.78% and 2.22% respectively. There was no significant difference in chromosomal aberration rate between pregnant women of different age groups (<35 years old and ≥35 years old) and different previous miscarriage times (0th, 1st, and 2nd times) (P> 0.05). Conclusions Abnormal number of chromosomes is one of the most important factors leading to spontaneous abortion. FISH is a rapid and accurate molecular diagnostic technique. It has important application value for the etiological diagnosis of spontaneous abortion and the guidance of re-pregnancy.