Abstract
Spontaneous abortion is an impeding factor for the success rates of human assistant reproductive technology (ART). Causes of spontaneous abortion include not only the pregnant mothers’ health conditions and lifestyle habits, but also the fetal development potential. Evidences had shown that fetal chromosome aneuploidy is associated with fetal spontaneous abortion, however, it is still not definite that whether other genome variants, like copy number variations (CNVs) or loss of heterozygosity (LOHs) is associated with the spontaneous abortion. To assess the relationship between the fetal genome variants and abortion during ART, a chromosomal microarray data including chromosomal information of 184 spontaneous aborted fetuses, 147 adult female patients and 78 adult male patients during ART were collected. We firstly analyzed the relationship of fetal aneuploidy with maternal ages and then compared the numbers and lengths of CNVs (< 4Mbp) and LOHs among adults and aborted fetuses. In addition to the already known association between chromosomal aneuploidy and maternal ages, from the chromosomal microarray data we found that the numbers and the accumulated lengths of short CNVs and LOHs in the aborted fetuses were significantly larger or longer than those in adults. Our findings indicated that the increased numbers and accumulated lengths of CNVs or LOHs might be associated with the spontaneous abortion during ART.
Highlights
Epidemiological data had revealed that up to 10% clinically recognized pregnancies will spontaneously aborted [1,2,3]
Our results revealed that the numbers and accumulated lengths of copy number variations (CNVs) and loss of heterozygosity (LOHs) were increased in the aborted euploid fetuses
To analyze the causes of fetus abortion from the perspective of genomic variations, we analyzed the karyotypes of 184 aborted fetuses during assistant reproductive technology (ART), 147 female adult ART patients and 78 male adult patients using the method of chromosomal microarray analysis (CMA)
Summary
Epidemiological data had revealed that up to 10% clinically recognized pregnancies will spontaneously aborted [1,2,3]. Aneuploidy could generated in mitotic blastomeres which account for more than 25% of the aneuploid embryos [9] or more than half of the mosaic aneuploid embryos [10] These abortion induced by chromosome numerical abnormality might be associated with the dysregulation of dose-dependent genes during fetus development. CNVs could be divided into recurrent CNVs and rare CNVs. The recurrent CNVs are caused by non-allele homologous recombination repair of DNA DSBs at the low copy repeat (LCR) regions [11, 12]. Our results revealed that the numbers and accumulated lengths of CNVs and LOHs were increased in the aborted euploid fetuses
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