Objective: To investigate whether assisted reproductive technology increases the risk of fetal chromosomal abnormalities. Methods: According to the way of pregnancy, 2 318 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 (1 922 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 detecting abnormal karyotype were analyzed. Results: A total of 1 420 cases of chromosomal abnormality were detected in 2 318 aborted fetus, with an abnormal rate of 61.26% (1 420/2 318). In all abnormal karyotypes, aneuploidies accounted for 1 040 cases (73.24%, 1 040/1 420), 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 incidence 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 chromosome 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 aneuploidy. 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 detection.
ZHOU Jing, ZHANG Shuo, XU Jianzhong, YIN Min, LEI Caixia, WU Junping, ZHANG Yueping
. Comparison of abnormal karyotypes of early spontaneous aborted fetus in patients with different ways of pregnancy[J]. Journal of Diagnostics Concepts & Practice, 2017
, 16(03)
: 277
-281
.
DOI: 10.16150/j.1671-2870.2017.03.009
[1] 王瑛嫦, 王繁, 吕杰强. 体外受精-胚胎移植后自然流产原因探讨与预防措施[J]. 国际生殖健康/计划生育杂志,2011,30(2):115-118.
[2] Jansen RP.Spontaneous abortion incidence in the treatment of infertility[J]. Am J Obstet Gynecol,1982,143(4):451-473.
[3] 乐杰. 妇产科学[M]. 6版. 人民卫生出版社,2004:89.
[4] 刘玉昆, 刘颖琳, 杜涛, 等. 早期妊娠自然流产患者的超声表现与绒毛染色体核型分析[J]. 中山大学学报(医学科学版),2013,34(1):94-98.
[5] Bettio D, Venci A, Levi Setti PE.Chromosomal abnormalities in miscarriages after different assisted reproduction procedures[J]. Placenta,2008,29(Suppl B):126-128.
[6] 张月萍, 伍俊萍, 李笑天, 等. 孕中期羊水细胞染色体核型分析及其异常核型发生率的比较[J]. 中华妇产科杂志,2011,46(9):644-648.
[7] Yusuf RZ, Naeem R.Cytogenetic abnormalities in pro-ducts of conception: a relationship revisited[J]. Am J Reprod Immunol,2004,52(1):88-96.
[8] 陆国辉. 临床遗传咨询[M]. 北京大学医学出版社,2007:131-197.
[9] Kushnir VA, Frattarelli JL.Aneuploidy in abortuses following IVF and ICSI[J]. J Assist Reprod Genet,2009, 26(2-3):93-97.
[10] Lathi RB, Milki AA.Rate of aneuploidy in miscarriages following in vitro fertilization and intracytoplasmic sperm injection[J]. Fertil Steril,2004,81(5):1270-1272.
[11] Kim JW, Lee WS, Yoon TK, et al.Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment[J]. BMC Med Genet,2010,11:153.
[12] Chuang CC, Chen CD, Chao KH, et al.Age is a better predictor of pregnancy potential than basal follicle-stimulating hormone levels in women undergoing in vitro ferti-lization[J]. Fertil Steril,2003,79(1):63-68.
[13] Farr SL, Schieve LA, Jamieson DJ.Pregnancy loss among pregnancies conceived through assisted reproductive technology, United States, 1999-2002[J]. Am J Epidemiol,2007,165(12):1380-1388.
[14] Fritz B, Aslan M, Kalscheuer V, et al.Low incidence of UPD in spontaneous abortions beyond the 5th gestational week[J]. Eur J Hum Genet,2001,9(12):910-916.
[15] 廖灿. 染色体微阵列分析技术在产前诊断中的应用[J]. 中华围产医学杂志,2014,17(12):804-808.
