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目的分析高龄孕妇(>35岁)胎儿异常染色体发生情况。方法回顾性分析2010年1月至2015年6月在绍兴市妇幼保健院行孕中期羊膜腔穿刺术及羊水染色体核型分析的3527名高龄孕妇的病例资料,计算各种胎儿染色体核型异常的发生率,并进行统计学分析。将孕妇按年龄分为35-37岁、38-40岁、41-48岁3组,比较各年龄组胎儿染色体非整倍体的发生率及21三体和18三体的发生率。结果 3527份羊水标本中共检出异常核型67例,染色体多态67例,发生率均为为1.90%。染色体异常核型中数目异常44例,21三体、18三体、13三体、性染色体数目异常发生率分别为0.54%(19/3527)、0.28%(10/3527)、0.03%(1/3527)、0.31%(11/3527)。染色体结构22例,发生率为0.62%(22/3527),以易位和倒位最为多见;嵌合体1例。孕妇年龄35-37岁(1)、38-40岁(2)、41-48岁(3)组的21三体发生率两两间比较,1和2、1和3组间差别有统计学意义,2和3组间差异无统计学意义。18三体发生率两两间比较和性染色体异常发生率两两间比较,结果均为2和3组间、1和3组间差别有统计学意义,1和2组间差异无统计学意义。结论高龄孕妇发生胎儿染色体异常的风险随孕妇年龄的增长而上升,高龄孕妇(>35岁)直接进行产前诊断以防染色体病患儿的出生。
Objective To analyze the abnormal fetuses of fetus in elderly pregnant women (> 35 years old). Methods The data of 3527 pregnant women from January 2010 to June 2015 in Maternal and Child Health Care Hospital of Shaoxing were enrolled in this study. The abnormal fetal karyotypes of various fetuses were calculated Incidence, and statistical analysis. The pregnant women were divided into three groups of 35-37 years old, 38-40 years old and 41-48 years old by age. The incidence of fetal aneuploidy in each age group and the incidence of trisomy 21 and trisomy 18 were compared. Results A total of 3527 samples of amniotic fluid were detected in 67 cases of abnormal karyotype, 67 cases of chromosome polymorphism, the incidence was 1.90%. The number of chromosomal aberration karyotype in 44 cases, 21 trisomy, 18 trisomy, 13 trisomy, the number of sex chromosome abnormalities were 0.54% (19/3527), 0.28% (10/3527), 0.03% /3527),0.31%(11/3527). Chromosome structure in 22 cases, the incidence was 0.62% (22/3527), the most common in the translocation and inversion; chimerism in 1 case. Maternal age 35-37 years old (1), 38-40 years old (2), 41-48 years old (3) group 21 trisomy 21 comparisons between groups 1 and 2, 1 and 3 were statistically significant difference Significance, no significant difference between 2 and 3 groups. Twenty-three trisomy 18 comparisons and the incidence of sex chromosome abnormalities between the two 2, the results were 2 and 3 groups, 1 and 3 were statistically significant differences between groups 1 and 2 was no significant difference . Conclusion The risk of fetal chromosomal abnormality in older pregnant women increases with the increase of the age of pregnant women. The elderly pregnant women (> 35 years old) directly carry out prenatal diagnosis to prevent the birth of children with chromosomal disease.