摘要
目的：探讨辅助生殖和自然妊娠中女性年龄与早期自然流产绒毛染色体数目异常的关系。方法：通过多重连接依赖探针扩增技术（MLPA）对55例自然妊娠mC）、147例体外受精（IvF）妊娠和85例卵胞质内单精子注射（ICSI）妊娠孕早期自然流产的绒毛组织进行染色体数目检测，比较不同妊娠方式、不同染色体、不同异常染色体个数间女}生年龄和非整倍体的关系。结果：NC组和IVF组中非整倍体的孕妇年龄罩著商于绒毛染色体正常的孕妇年龄（NC组：35．0±5．0岁 vs 31．6±4．1岁，P=0．014；IVF组：35．2±4．5岁 vs 32．1±4．6岁，P=0．000），而ICSI组中无统计学差异（34．4±5．1岁 vs 33．5±4．1岁，P=0．391）；NC组和IVF组随孕妇年龄的增长流产儿非整倍体率递增，IVF组有统计学差异（P=0．002），但ICSI组未观察到该现象。15、20、21和22号染色体异常率随孕妇年龄的增长递增，其中20、21号染色体有统计学差异（P〈0．05）；13号染色体异常率在40～47岁亚组中显著增高（P=0．027）；16号染色体在各孕母年龄段的异常率相近；性染色体异常率在40～47岁亚组中降低。多重非整倍体组的孕妇年龄显著高于单一非整倍体组（37．4±5．3岁 vs 34．9±4．6岁，P=0．039），40～47岁亚组中多重非整倍体发生率显著增高（P〈0．05）。结论：女性高龄是NC和IVF妊娠非整倍体胎儿的高危因素，而ICSI可能还存在其他机制导致胎儿染色体异常。多重非整倍体及大部分小染色体非整倍体的流产儿多见于高龄孕妇，而性染色体单体流产儿则多见于较年轻孕妇，16-三体不存在母亲年龄效应。
Objective： To explore the relationship between matemal age and numerical abnormalities of chorionic villus chromosomes in spontaneous abortion during the first trimester following assisted reproductive technology （ART） and natural conception （NC）. Methods： A total of 55 cases of NC, 147 cases of in vitro fertilization （IVF） and 85 cases of intracytoplasmic sperm injection （ICSI） suffered from spontaneous abortion during the first trimester were enrolled in this study. Chorionic villus specimens were tested for the chromosome number by multiplex ligation-dependent probe amplification （MLPA） method. The relationship between maternal age and aneuploidy was compared among different pregnancy ways, different chromosomes and different num- bers of abnormal chromosome. Results： Maternal age of abortuses with aneuploidy was significantly higher than that of abortuses without aneuploidy in NC and IVF groups （NC group： 35.0 ± 5.0 years vs 31.6±4.1 years, P=0.014; IVF group： 352 ± 4.5 years vs 32.1±4.6 years, P=0.000）, but not in ICSI group （34.4 ± 5.1 years vs 33.5 ±4.1 years, P=0.391）. Abortus＇ aneuploidy rate increased with maternal age in NC and IVF groups but not in ICSI group, while statistical difference was observed in IVF group （P=0.002）. An increase in abnormal rates of chromosomes 15, 20, 21 and 22 was noted with increasing maternal age and this tendency of chromo- somes 20 and 21 demonstrated statistical differences （P〈0.05）. Abnormal rate of chromosome 13 was signifi- cantly increased in ≥40-year subgroup （P=0.027）. Abnormal rates of chromosome 16 were similar in different maternal age subgroups. Sex chromosome＇s abnormal rate of 40-49-year subgroup decreased. Maternal age of abortuses with multiple aneuploidy was significantly higher than that with single aneuploidy （37.4 ± 5.3 years vs 34.9 ± 4.6 years, P=0.039）, as well as the incidence＇ of multiple aneuploidy in ≥ 40-year subgroup was significantly higher than that in other three subgroups （P〈0.05）. Conclusion： Advanced maternal age is a high risk factor to conceive aneuploidy fetuses in NC and IVF groups, but additional mechanisms may be also involved in causing the foetal chromosome abnormality in ICSI group. Abortuses with multiple aneuploidy and with most of small chromosomes＇ aneuploidy occur predominantly in advanced maternal age, whereas abortuses with Turner syndrome are more common in the young gravidas. Effect of maternal age on trisomy 16 does not exist.
出处
《生殖与避孕》
CAS
CSCD
2014年第9期735-741,共7页
Reproduction and Contraception
基金
深圳市基础研究项目
项目号:JCYJ20120829150019349
关键词
非整倍体
高龄孕妇(AMA)
自然流产
辅助生殖技术(ART)
绒毛
aneuploidy
advanced maternal age （AMA）
spontaneous abortion
assisted reproductive technology（ART）
chorionic villus
