周静 1张硕 1徐建忠 1殷民 1雷彩霞 1伍俊萍 1张月萍1
作者信息
- 1. 复旦大学附属妇产科医院集爱遗传与不育诊疗中心,上海 200011
- 折叠
摘要
Abstract
Objective: To investigate whether assisted reproductive technology increases the risk of fetal chromoso-mal abnormalities. Methods: According to the way of pregnancy, 2318 early abortion cases were divided into three groups, IVF (in vitro fertilization) group (310 cases), ICSI (intracytoplasmic sperm injection) group (86 cases), and NC (natural conception)group (1922 cases). Frequency of abnormal karyotypes in the three groups were compared, and the correlation between age of pregnant woman and rate of aneuploidy as well as the performance of various methods for de-tecting abnormal karyotype were analyzed. Results: A total of 1420 cases of chromosomal abnormality were detected in 2318 aborted fetus, with an abnormal rate of 61.26% (1420/2318). In all abnormal karyotypes, aneuploidies accounted for 1040 cases (73.24%, 1040/1420), which involved all chromosomes except chromosome 1. The frequency of trisomy 16 was the highest, followed by trisomy 22 and X monomer. Differences in the total chromosome abnormality rate between IVF group, ICSI group and NC group were not significant (57.74%, 55.81%, 62.02% respectively, P=0.207), but the inci-dence rate of triploid in ICSI group was significantly lower than those in NC group and IVF group (0 vs. 7.23% and 7.42%, P=0.035). The aneuploidy rate in pregnant women aged ≥35 years was significantly higher than that in younger women (<35 years old) (60.25% vs. 40.07%, P<0.01). Compared with other detectiontion rates of unbalanced structural chromosome abnormalities, triploid, and micro repeats and/deletions by SNP-array were different from NGS and cell karyotype analysis (62.94% vs. 53.13% and 59.92%, respectively, P=0.035), and SNP-array also could detecte UPD (uniparentaldisomy) and LOH (loss of heterozygosity). Karyotype analysis had the highest detection rate for tetraploid. Conclusions: The fetal chro-mosome abnormality is one of the most important causes of spontaneous abortion.and IVF as well as ICSIdo not increase the total incidence rate of fetal chromosomal abnormalities, but ICSI might increase the risk of fetal sex chromosome aneu-ploidy. Thepregnant women's age could be related to the increase of fetal aneuploidy. Molecular detection technologies, such as SNP-array and NGS are expected to replace karyotype analysis method as a first-line method for chromosome de-tection.关键词
流产物/体外受精/单精子注射/染色体/核型分析Key words
Abortion/In vitro fertilization/Intracytoplasmic sperm injection/Chromosomes/Karyotype analysis分类
医药卫生
