Chromosomal variants accumulate in genomes of the spontaneous aborted fetuses revealed by chromosomal microarray analysis

• Published in: PloS one 2021-11, Vol.16 (11), p.e0259518-e0259518
• Main Authors: Li, Sen, Chen, Lei-Ling, Wang, Xing-Hua, Zhu, Hai-Jing, Li, Xiao-Long, Feng, Xie, Guo, Lei, Ou, Xiang-Hong, Ma, Jun-Yu
• Format: Article
• Language: English
• Subjects: Aborted Fetus - metabolism; Abortion; Abortion, Spontaneous; Adults; Analysis; Aneuploidy; Biology and Life Sciences; Chromosomes; Copy number; Data collection; DNA Copy Number Variations - genetics; DNA microarrays; Embryos; Epidemiology; Ethics; Families & family life; Female; Fetus; Fetuses; Genomes; Growth; Health aspects; Heterozygosity; Humans; Laboratories; Laws, regulations and rules; Loss of heterozygosity; Loss of Heterozygosity - genetics; Male; Medicine; Medicine and Health Sciences; Metabolism; Microarray Analysis; Miscarriage; Physiological aspects; Pregnancy; Pregnant women; Psychological aspects; Reproductive health; Reproductive technologies; Reproductive technology; Research and Analysis Methods; Risk factors; Statistics
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0259518

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.