线粒体DNA量与胚胎质量及妊娠关系研究

目的探讨线粒体DNA(mtDNA)量与胚胎形态、基因组及妊娠结局的关系。方法采用二代测序(NGS)进行293个周期1 071个囊胚的植入前遗传学检测(PGT)和mtDNA量检测。根据Garnder囊胚评分法将囊胚分为优质胚胎组(评分≥3BB,n=652)和非优质胚胎组(评分<3BB,n=419);比较两组间的mtDNA量,以及不同PGT结果(正常、异常、嵌合)亚组间的mtDNA量,并随访PGT正常组移植胚胎的结局与相应的mtDNA量。结果形态学评分优质胚胎组与非优质胚胎组的mtDNA量无显著差异(P>0.05),但两组中PGT正常结果亚组的mtDNA量均显著低于PGT异常结果亚组(P<0.05),而两组中PGT嵌合结果亚组的mtDNA量与其他两个亚组均无显著差异(P>0.05)。移植PGT正常结果组胚胎发现,妊娠结局为流产或者未孕的胚胎相比于正常妊娠的胚胎其平均mtDNA量在数值上较高,但无统计学差异(P>0.05)。移植6个PGT嵌合结果组胚胎发现,其中2个mtDNA量较高的胚胎结局1个未妊娠、1个流产,而另外4个mtDNA量较低的胚胎结局均为正常分娩。...

Relationship between mitochondrial DNA quantification and embryo quality and pregnancy outcome

Objective:To investigate the relationship between mitochondrial DNA(mtDNA)and embryo morphology,genome and pregnancy outcome.Methods:The pre-implantation genetics testing(PGT)and mtDNA assays were performed by next generation sequencing(NGS)for 1071 blastocysts in 293 cycles.Morphological evaluation of blastocyst was performed according to the Garnder blastocyst score.Blastocysts were divided into high-quality embryo groups(scores≥3BB,n=652)and non-high-quality embryo groups(scores<3BB,n=419).The amounts of mtDNA between the two groups and among the subgroups with different PGT results(normal,abnormal,mosaic)were compared.The outcome of transferred embryos with normal PGT and the corresponding amount of mtDNA were followed up.Results:There was no significant difference in mtDNA between high quality embryos and non-high quality embryos,but the mtDNA levels in the PGT normal group were significantly lower than those in the PGT abnormal group(P<0.05).The amount of mtDNA in the mosaic group was numerically close to the other two subgroup(P>0.05).When PGT nomal embryos were transferred,the average mtDNA amount was higher in the aborted or non-pregnant embryo than those normal pregnant embryos,but there was no significant difference(P>0.05).In addition,the results of 6 mosaic embryos transferred revealed that 2 embryos with higher mtDNA levels had one non-pregnancy and one abortion,while all the other 4 embryos with lower mtDNA levels had normal delivery.Conclusions:There is a certain correlation between the amount of mtDNA and the results of PGT.In addition,the amount of mtDNA may reflect the pregnancy outcome to a certain extent,and may also be helpful for the prediction of the mosaic state of the mosaic embryo.It can be considered as a supplementary method for embryo selection in the future.