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目的通过分析辅助生殖技术(ART)男性子代与自然妊娠男性子代脐血染色体核型及Y染色体微缺失,探索ART操作对男性子代染色体核型、Y染色体微缺失的影响。方法选择2008年5月-2012年12月在该院出生的新生儿为研究对象,共74例,根据产妇妊娠方式,分为ART组[体外受精(IVF)36例,卵胞浆内单精子显微注射技术(ICSI)11例]和自然妊娠组(27例)。产妇年龄21～42岁,平均年龄(31±5)岁,ART组产妇平均年龄(32±4)岁,自然妊娠组产妇平均年龄(28±5)岁。穿刺抽取新生儿脐静脉血3～5 ml,进行常规G显带染色法检测染色体核型和提取全血DNA后应用多重PCR技术检测无精子因子(AZF)微缺失,并用SPSS17.0统计软件包进行统计学分析。结果 ART组异常染色体核型9例(19.15%),自然妊娠组异常染色体核型5例(18.52%),均为多态性变异,两组间差异无统计学意义(χ~2=0.04,P=0.947);ART组和自然妊娠组男性子代Y染色体微缺失检测结果均与正常男性阳性对照相同,即两组均未发现Y染色体微缺失。结论与自然妊娠相比,ART操作并未增加男性子代染色体核型异常和多态性变异、Y染色体微缺失的风险,其中ICSI与IVF操作相比,亦未增加男性子代染色体多态性变异、Y染色体微缺失的风险。
OBJECTIVE: To explore the effect of ART on chromosomal karyotype and Y chromosome microdeletions in male offsprings by analyzing the karyotype and Y chromosome microdeletions of male offsprings in male offspring and natural pregnancy of assisted reproductive technology (ART). Methods A total of 74 newborns born in this hospital from May 2008 to December 2012 were enrolled in this study. They were divided into ART group (IVF 36 cases, intracytoplasmic sperm 11 cases of microinjection (ICSI)] and 27 cases of natural pregnancy (27 cases). The average age was (31 ± 5) years. The average age of maternal women in ART group was (32 ± 4) years. The average age of pregnant women in natural pregnancy group was (28 ± 5) years old. The umbilical cord blood of 3 to 5 ml was taken by puncture and the chromosome karyotype was detected by conventional G-banding staining and the whole DNA was extracted. Multiple microarray (AZT) was detected by multiplex PCR. SPSS17.0 statistical software package Statistical analysis. Results There were 9 cases (19.15%) of abnormal chromosome karyotype in ART group and 5 cases (18.52%) of abnormal chromosome karyotype in natural pregnancy group, all of them were polymorphic. There was no significant difference between two groups (χ ~ 2 = 0.04, P = 0.947). The detection results of Y chromosome microdeletion in male offspring of ART group and natural pregnancy group were the same as the normal male positive control group, that is, no Y chromosome microdeletion was found in both groups. Conclusions Compared with natural pregnancy, ART did not increase the risk of karyotype abnormality and polymorphism mutation in male offsprings, but also the risk of microdeletion of Y chromosome. In contrast, ICSI did not increase the male-generation chromosomal polymorphism Variation, risk of Y chromosome microdeletions.