In the present study, we retrospectively recruited 340 patients who underwent spontaneous abortions to investigate chromosomal abnormalities of the conception products in the first trimester. We also performed a relevant analysis of clinical factors. Of these patients, 165 had conception products with chromosomal abnormalities, including 135 aneuploidies, 11 triploidies, 10 complex abnormalities, and 9 segmental aneuploidies. The most common abnormal chromosomes were chromosome 16 in the embryo-transfer group and sex chromosomes in the natural-conception group. The most common abnormal chromosomes in all analyzed maternal age groups were sex chromosomes, 16, and 22. The chromosomal abnormality incidence was related to age and number of spontaneous abortions (both <i>p</i> < 0.05), but not to number of pregnancies, deliveries, induced abortions, or methods of conception (all <i>p</i> > 0.05). The rates of abnormality for chromosomes 12, 15, 20, and 22 increased with age, while the rates for chromosomes 6, 7, 13, and X decreased. In all age groups, aneuploidy was by far the most common abnormality; however, the low-incidence distributions of chromosomal abnormalities were entirely different. Overall, chromosomal aneuploidy was the primary cause of pregnancy loss in the first trimester, and low-frequency abnormalities differed across age subgroups. Chromosomal aberrations were found to be related to maternal age and spontaneous abortion, but not all chromosomal abnormalities increased with age.
Introduction Approximately 50% of cases with recurrent spontaneous abortion (RSA) have unexplained etiology. Aberrant expression of transmembrane and ubiquitin‐like domain containing 1 (TMUB1) is closely related to a series of diseases, including RSA. However, the function and underlying mechanism of TMUB1 in the occurrence of RSA has not been described. Methods TMUB1 expression was detected in the placental villous tissues of 30 women with normal miscarriages and 12 women with RSA. The pregnant mice were injected intraperitoneally with lipopolysaccharide (LPS) to induce abortion. Human chorionic trophoblast cells were treated with LPS. Pathological analysis of placental tissues was performed by hematoxylin and eosin staining. Results TMUB1 was highly expressed in the placental villous tissues of RSA patients compared to the patients who underwent induced abortions. After LPS administration, the mice exhibited high embryo absorption and pathological alterations, as well as presented an increase in inflammation and apoptosis (the etiology of RSA induction) in placental tissues. Moreover, the upregulated expression of TMUB1 was also found in placental tissues of LPS‐induced mice, and further investigation showed that TMUB1 deficiency blocked embryo loss as well as inhibited apoptotic rate and inflammation after LPS activation. Furthermore, we found that the loss of TMUB1 suppressed the phosphorylation of IkappaB kinase (IKK) α/β and attenuated cytoplasmic‐nuclear translocation of nuclear factor‐κB (NF‐κB) p65 in LPS‐induced cells. Conclusion Our results indicate that TMUB1 may involve in the modulation of apoptosis and NF‐κB pathway‐mediated inflammation in RSA. Therefore, TMUB1 may develop as a potential biomarker for RSA treatment.
PurposeThe incidence of chromosomal polymorphisms (CP) is increased in infertile couples, but its impact on reproduction is uncertain, especially undergoing assisted reproductive technology treatment. The purpose of the present study was to investigate the effect of CP on the outcomes of in vitro fertilization/intracytoplasmic sperm injection‐embryo transfer (IVF/ICSI‐ET) treatmentMethodsA total of 1331 infertile couples undergoing IVF/ICSI treatment were involved in this retrospective case–control study. The participants were divided into 4 groups according to CP variations: (i) normal chromosomes (NC) group; (ii) CP group; (iii) both chromosomal polymorphisms (BCP) group; and (iv) double chromosomal polymorphisms (DCP) group. The CP group was further divided into five subgroups: qh+, D/G, inv(9), Yqh+ and Yqh−. The outcomes of IVF/ICSI‐ET treatment were compared among the groups.ResultsThere were no differences observed between the eight groups in terms of number of oocytes retrieved, MII rate, fertilization rate, cleaved embryo rate, and quality embryo rate for both females and males (p > 0.05). In both male and female, some of the CP subgroups experienced more oocyte retrieval operations and more embryo transfer operations to achieve pregnancy than the NC groups (p < 0.05). The rates of live births were significantly lower in some of the CP subgroups compared to the NC group (p < 0.05).ConclusionIn conclusion, the pregnancy outcomes of ET were affected by CP. It was speculated that this may be associated with the effect of chromosome polymorphism on embryo quality, although this could not be observed or determined by morphological evaluation.
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