scholarly journals Exome-Sequencing Identifies Novel Genes Associated with Recurrent Pregnancy Loss in a Chinese Cohort

2021 ◽  
Vol 12 ◽  
Author(s):  
Huifen Xiang ◽  
Chunyan Wang ◽  
Hong Pan ◽  
Qian Hu ◽  
Ruyi Wang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Chinese Women ◽  
Model Studies ◽  
Chinese Cohort ◽  
History Of ◽  
Blastocyst Implantation ◽  
Cell Growth And Proliferation

Recurrent pregnancy loss (RPL) is a common reproductive problem affecting around 5% of couples worldwide. At present, about half of RPL cases remained unexplained. Previous studies have suggested an important role for genetic determinants in the etiology of RPL. Here, we performed whole-exome sequencing (WES) analysis on 100 unrelated Han Chinese women with a history of two or more spontaneous abortions. We identified 6736 rare deleterious nonsynonymous variants across all patients. To focus on possible candidate genes, we generated a list of 95 highly relevant genes that were functionally associated with miscarriage according to human and mouse model studies, and found 35 heterozygous variants of 28 RPL-associated genes in 32 patients. Four genes (FOXA2, FGA, F13A1, and KHDC3L) were identified as being strong candidates. The FOXA2 nonsense variant was for the first time reported here in women with RPL. FOXA2 knockdown in HEK-293T cells significantly diminished the mRNA and protein expression levels of LIF, a pivotal factor for maternal receptivity and blastocyst implantation. The other genes, with 29 variants, were involved in angiogenesis, the immune response and inflammation, cell growth and proliferation, which are functionally important processes for implantation and pregnancy. Our study identified several potential causal genetic variants in women with RPL by WES, highlighting the important role of genes controlling coagulation, confirming the pathogenic role of KHDC3L and identifying FOXA2 as a newly identified causal gene in women with RPL.

scholarly journals Investigating Association of rs5918 Human Platelets Antigen 1 and rs1800790 Fibrinogen β Chain as Critical Players with Recurrent Pregnancy Loss

2018 ◽  
Vol 6 (4) ◽  
pp. 98 ◽  
Author(s):  
Fatemeh Karami ◽  
Maliheh Askari ◽  
Mohammad Modarressi
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Human Platelets ◽  
P Value ◽  
Increased Risk ◽  
History Of ◽  
Polymerase Chain ◽  
Β Chain ◽  
Larger Sample

Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 (HPA-1) and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of HPA-1 and FGB genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of HPA-1 gene rs5918 polymorphism was significantly associated with risk of RPL (p-value = 0.02). Although, rs1800790 G > A of FGB gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of FGB and HPA-1 genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of FGB gene variant in pathogenesis of RPL.

scholarly journals Endometrial evaluation with methylene blue staining in patients with normal hysteroscopy

2019 ◽  
Vol 8 (7) ◽  
pp. 2715
Author(s):  
Alka Goel ◽  
Pooja Gupta ◽  
Akansha Singh ◽  
Khushboo Singh
Keyword(s):  
Methylene Blue ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Blue Staining ◽  
False Negatives ◽  
Normal Endometrium ◽  
Significant Difference ◽  
History Of ◽  
Dark Blue

Background: Normally, endometrium comprises of non-absorptive epithelium and does not take up stain. Conventional staining with methylene blue is explained on the basis of existence of apoptotic cells in endometrium.Methods: Of 50 patients of unexplained infertility, AUB, recurrent pregnancy loss were randomly selected and included in the study. Those with abnormal ultrasound and history of tuberculosis were excluded. Conventional hysteroscopy was performed using normal saline as distending medium and in those with grossly normal endometrium were subjected to staining with 5% methylene blue instilled trans cervically. After 5 min, irrespective of the size and pattern, focal dark blue stained areas were considered abnormal and randomly biopsied. Incidence of endometritis in both groups was compared after histopathological examination.Results: Of total 50 patients, histopathological report of only one patient with dark blue staining had evidence of endometritis. Rest had no evidence, of which 73.5% had light blue or unstained areas and 26.5% showed dark blue staining. No statistically significant difference was found between histopathological reports and light or dark blue staining (p=0.28). When percentage stained area was considered more than 50% only to be positive, sensitivity was 100%, specificity 94%, PPV 25% and NPV 100%. False positives were 75% and no false negatives were observed. Although p values improved but still statistically insignificant.Conclusions: Present study failed to establish any significant correlation between staining pattern and detection rate of endometritis. With no Indian studies published on chromohysteroscopy so far, role of methylene blue in detection of subtle endometrial changes in modern gynaecology in Indian subpopulation is yet to be established.

Investigating the role of EGF-CFC gene family in recurrent pregnancy loss through bioinformatics and molecular approaches

2021 ◽  
pp. 1-13
Author(s):  
João Matheus Bremm ◽  
Juliano André Boquett ◽  
Marcus Silva Michels ◽  
Thayne Woycinck Kowalski ◽  
Flávia Gobetti Gomes ◽  
...  
Keyword(s):  
Gene Family ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Molecular Approaches

Role of male genetic factors in recurrent pregnancy loss in Northeast China

2018 ◽  
Vol 224 ◽  
pp. 6-11 ◽  
Author(s):  
Rulin Dai ◽  
Yuan Pan ◽  
Yan Fu ◽  
Qian Liu ◽  
Weifeng Han ◽  
...  
Keyword(s):  
Northeast China ◽  
Pregnancy Loss ◽  
Genetic Factors ◽  
Recurrent Pregnancy Loss

scholarly journals Puzzle Out the Reason behind Habitual Miscarriage

2020 ◽  
pp. 92-98
Author(s):  
Waqas Ahmad ◽  
Shahid Bilal ◽  
Sarah Azhar ◽  
Muhammad Aitmaud Uddolah Khan ◽  
Nasima Iqbal ◽  
...  
Keyword(s):  
Risk Factors ◽  
Maternal Age ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Multinomial Logistic Regression ◽  
Strong Association ◽  
Multinomial Logistic Regression Model ◽  
Multiple Risk Factors ◽  
Bivariate Correlation ◽  
History Of

Aims: As no data is available in Pakistan so the aim of current study is to find out the link of multiple risk factors with recurrent pregnancy loss (RPL) in Pakistan. Study Design: Case control study. Place and Duration of Study: Study conducted in Obstetrics and Gynecology Clinic of Benazir Bhutto Hospital, Holy Family Hospital Rawalpindi and Polyclinic Hospital Islamabad from November 2018 to April 2019. Methodology: Subjects were investigated on the basis of an in depth Performa. For data analysis Statistical package for social sciences version-20 was used. Beside this, height in cm, weight in kg and blood pressure in mmHg were recorded. All the statistical calculations were performed by using SPSS 20. For association analysis of qualitative variables Spearman bivariate correlation was calculated while for numerical variables ANOVA was applied. Multinomial logistic regression model was used and the odd ratio and relative risk were calculated. Results: Among cases 91.34% were having spontaneous miscarriage and majority (64.86%) were during first trimester. Spearman bivariate correlation reported a strong association of recurrent pregnancy loss with the risk factors including family history, smoking, obesity, history of hypertension and history of diabetes, having highly significant p-values, on the hand, significant association of maternal age with the frequency of recurrent pregnancy loss was found but not with the paternal age and parity. The multinomial logistic regression model showed that smokers were19.012 times more prone to develop recurrent pregnancy loss. Conclusion: The multiple risk factors including maternal age, obesity, smoking, family history, body mass index, hypertension and diabetes have a strong association with the recurrent pregnancy loss. So keeping these risk factors in mind a careful evaluation of each pregnancy is necessary to reduce the risk of recurrent pregnancy loss.

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