Cytogenetic abnormalities in couples with a history of primary and secondary recurrent miscarriage: a Brazilian Multicentric Study

2018 ◽  
Vol 33 (3) ◽  
pp. 442-448 ◽  
Author(s):  
Marcelo Borges Cavalcante ◽  
Manoel Sarno ◽  
Gabriela Gayer ◽  
Joanna Meira ◽  
Marla Niag ◽  
...  
2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 999.1-999
Author(s):  
M. Abreu ◽  
O. Monticielo ◽  
V. Fernandes ◽  
A. Cristovão Maiorano ◽  
F. Dos Santos Beserra ◽  
...  

Background:Lupus nephritis (LN) is one of the most serious organic manifestations of systemic lupus erythematosus (SLE). Ethnicity can contribute to disparities in the prevalence and disease activity of LN.Objectives:To assess the prevalence of LN in Brazilian patients with SLE and to determine factors associated with LN activity across the country.Methods:This cross-sectional study (GSK Study 207353) was carried out through face-to-face interviews and review of medical records (12-month study period). Adult patients with SLE (American College of Rheumatology [ACR] criteria, 1997) were included. Five SLE reference teaching centres were selected: North (NO), Northeast (NE), Midwest (CO), Southeast (SE), and South (SU). Patients with another disease whose morbidity surpassed SLE were excluded. LN was defined as reported in the medical record or history of confirmed renal biopsy; disease activity by pre-defined changes in SLE Disease Activity Index (SLEDAI) or the patient’s kidney disease during the study. Activity was assessed during (T0), 6 months before (T6), and 12 months before (T12) the interview. Systemic Lupus International Collaborating Clinics/ACR Damage Index score mapped damage accrual. Two pairings were performed, aiming to discriminate factors associated with LN and its activity, respectively. Matching technique was used to select similar individuals based on propensity scores, obtained from a logistic regression model. A bootstrapping method explored characteristic variables associated with the risk of progressing to LN.Results:Overall, 300 Brazilian patients with SLE were included in the study. Two groups were paired: LN group (N=150) and non-LN group (N = 141). The prevalence of LN in the paired sample (N=291) was 51.5%, with a disparity between centres (p<0.001; Figure 1A). Most patients were female (LN: 92.7%; non-LN: 94.3%) and the mean (standard deviation [SD]) age for the LN and non-LN groups was 39.46 (11.86) and 43.96 (12.18), respectively. History of serositis was associated with the presence of LN (42 [28.0%] vs 21 [14.9%] non-LN; p=0.010). Type IV histological class predominated in both groups, with no disparity between centres. Social disparities were noted between groups. Non-active workers prevailed among the LN group (115 [76.7%] vs 98 [69.5%] for non-LN, p=0.024).When pairing for disease activity at T12, 73 (50.3%) patients with LN (N=145) had active disease. There was regional disparity in terms of disease activity (Figure 1B), with a predominance of active LN in the NO (28 [68.3%]) and SU (16 [55.2%], p=0.026). Type IV histological class was the component most associated with active LN (active: 32 [43.8%]; non-active: 11 [15.3%], p<0.001). Variation in SLEDAI during the study period discriminated between active and non-active LN. The mean (SD) SLEDAI score at T12 was substantially higher in those with active LN compared with non-active LN (7.18 [4.83] vs 2.47 [4.63], p<0.001). As for the pattern of care, corticosteroids users prevailed in those with active LN (62 [84.9%] vs 45 [62.5%] for non-active LN, p=0.004). There was no disparity in the use of immunosuppressants, with the exception of cyclophosphamide use, noted among 16 (21.9%) patients with active LN and 6 (8.3%) patients with non-active LN (p=0.041). Psychotropic or anticonvulsant use was higher in patients with non-active LN (32 [44.4%] vs 17 [23.3%] patients with active LN, p=0.012). Consultation with a neurologist was verified in 15 (20.8%) patients with non-active LN and 6 (8.2%) with active LN (p=0.055). Hospitalisation occurred in 17 patients with non-active (23.6%) and active (23.3%) LN.Conclusion:Disparities in the prevalence of LN and its activity were evident between the regions across Brazil, highlighting differences in clinical factors, regional factors, and patterns of care.Funding:GSKFigure 1.Prevalence of A) LN among regional centres, comparing them to disease activity profile and prescriptive practice, and B) Active and non-active LN according to prescriptive practiceCQ, chloroquine; HCQ, hydroxychloroquine*At T12Acknowledgements:Medical writing assistance was provided by Helen Taylor, Fishawack Indicia Ltd., UK, part of Fishawack Health, and was funded by GSK.Disclosure of Interests:Mirhelen Abreu Grant/research support from: GSK, Amgen, Biogen, Libbs, Odirlei Monticielo Speakers bureau: GSK, AbbVie, UCB, Roche, Novartis, Consultant of: GSK, AbbVie, Janssen, Vander Fernandes Speakers bureau: Janssen, Novartis, Roche, AbbVie, Pfizer, Grant/research support from: Novartis, GSK, Pfizer, Alexandre Cristovão Maiorano: None declared, Fernando dos Santos Beserra: None declared, Flavia Lamarao Employee of: GSK, Nathalie David Shareholder of: GSK, Employee of: GSK, Bruna de Veras Employee of: GSK, Blanca Bica: None declared, Domingos Sávio Nunes de Lima Grant/research support from: GSK, Marta Maria das Chagas Medeiros: None declared


Author(s):  
Razieh Alivand ◽  
Fatemeh Abdi ◽  
Mahmood Dehghani-Ashkezari ◽  
Hossein Neamatzadeh ◽  
Sedigheh Ekraminasab

Background: Recurrent miscarriage (RM) is one of the major problems of public health globally. The thrombin-activatable fibrinolysis inhibitor (TAFI) gene is a plasma zymogen that regulates both fibrinolysis and inflammation. Genetic variants within TAFI gene are presumed to be associated with development of RM. This case-control study aimed to investigate the association of TAFI +505A>G polymorphism with RM in Iranian women referred to Meybod Genetic Center. Methods: Fifty women with RM (at least 2 miscarriages) and 50 healthy women with no history of miscarriage or other fertility complications were participated in this study. The TAFI +505A>G polymorphism was genotyped by allele specific PCR (AS-PCR) assay. Results: The mean age of cases with RM and controls was 27.25 ± 4.31 and 28.42 ± 3.22 years, respectively. The frequency of GG genotype and G allele was 0.00% in patients and controls. There was no significant difference between RM cases and controls in terms of +505A>G genotypes and alleles. Conclusion: This study results indicated that there was no significant relationship between the TAFI +505A>G polymorphism and RM risk in Iranian women. However, further rigorous, studies with a larger sample size and different ethnicity are necessary to confirm our findings.


QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Ihab Found Alam ◽  
Sherif Ahmed Ashoush ◽  
Ihab Adel Gomaa ◽  
Ahmed Sabry AbdEl-Hafeez

Abstract This study investigated the endometrial tissue to study the fluctuation of estrogen receptors (ERs) and progesterone receptors (PRs) in women with recurrent miscarriage compared with normal endometrium of fertile women. Forty women were divided into two groups: 20 non-pregnant women with history of recurrent miscarriage (who had three or more first- trimester miscarriages) and 20 controls. Both groups had regular ovulatory menses and proven fertility. Endometrial biopsy was taken in the two groups during the luteal phase of the menstrual cycle, between the 8th and the 10th postovulatory days using an endometrial biopsy curette for determination of estrogen (E2) and progesterone (P4) hormones levels and their receptors. On the same day as the biopsy, a blood sample was taken for determination of estradiol (E2) and progesterone (P4) levels. The obtained results showed no significant differences between both groups regarding age, BMI, menarche, menstrual cycle & menstruation, significant decrease in E2 and P4 levels in the serum and endometrial biopsy of recurrent miscarriage women versus control. In control and recurrent miscarriage; ER levels in cytoplasm and salt extracted nucleus were higher than PR levels. ER and PR values were higher in the nuclear compartment than in the cytoplasmic compartment. The women with early recurrent miscarriage showed lower levels of both ER and PR significantly. All types of endometrial receptors (ER &PR) and hormones (E2 &P4) in serum and endometrium showed correlation relating to number of previous miscarriages.


2004 ◽  
Vol 270 (4) ◽  
pp. 227-229 ◽  
Author(s):  
Emine Arslan ◽  
Mehmet Çolakoğlu ◽  
Çetin Çelik ◽  
Kazim Gezginç ◽  
Ali Acar ◽  
...  

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Fatma Al Hoqani ◽  
Wadha Al Ghafri ◽  
Saneya El tayeb ◽  
Yahya Al Farsi ◽  
Vaidyanathan Gowri

Objective: to determine the prevalence of explained and unexplained recurrent miscarriages (RM) and to find out if there is a significant relationship between recurrent miscarriages and consanguinity. Methods: A cross sectional in which the cases group included all women with RM attending the outpatient clinic at Sultan Qaboos University Hospital from July 2006 to April 2012 and the controls group included women with no history of RM after matching them with cases for age (case to control ratio was 1:1). The main outcome measures were the prevalence of consanguinity in women with or without recurrent miscarriages. Results: During study period a total of 290 women with RM were seen. Of which, 150 (51.7%) women had unexplained RM. Control group with no history of RM were 300 women. Consanguinity rate among cases (49.5%) %) was less than the controls (52.7 %%). Both first cousin and second cousin marriages were more common in the controls than the cases and it was not statistically significant (p value 0.476, chi squared test). Conclusion: In this study we found that more than half of RM cases were unexplained and there was no significant association between RM and consanguinity.


2001 ◽  
Vol 16 (1) ◽  
pp. 102-106 ◽  
Author(s):  
S. Jivraj ◽  
B. Anstie ◽  
Y-C. Cheong ◽  
F.M. Fairlie ◽  
S.M. Laird ◽  
...  

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
G Spagnol ◽  
G Bonaldo ◽  
M Marchetti ◽  
A Vitagliano ◽  
A S Laganà ◽  
...  

Abstract Study question How does the septate uterus and his metroplasty influence pregnancy rate (PR), live birth rate (LBR), spontaneous abortion rates (SA) and preterm labour rates (PL)? Summary answer Uterine septum is associated with a poor reproductive outcome. Metroplasty reduce the rate of SA but non-conclusive evidence can be extrapolated about PR and PL. What is known already Different studies evaluated the correlation between uterine septum and reproductive outcomes. On one hand, studies reported its association with poor obstetrics outcomes. On the other hand, recent studies raised doubts about the effectiveness of septum metroplasty to improve reproductive outcomes, although recent position papers continue to propose metroplasty in patients with a septate uterus and a history of infertility or miscarriages. Debate is still ongoing on reproductive outcomes of uterine septum on infertile patients and especially on patients with recurrent miscarriage, leading to an unanswered question whether or not these women should be treated. Study design, size, duration Systematic review and meta-analysis of published studies that evaluated the clinical impact of uterine septum and its metroplasty on reproductive and obstetrics outcomes. The meta-analysis included study with infertile patients or patients with a history of recurrent miscarriage. Searches were conducted using the following search terms: uterine septum, septate uterus, metroplasty, pregnancy rate, live birth rate, spontaneous miscarriage, infertility, preterm delivery. Primary outcomes were PR and LBR. Secondary outcomes were SA and PL. Participants/materials, setting, methods The meta-analysis was written following the PRISMA guidelines. Fifty-nine full-text articles were preselected based on title and abstract. Endpoints were evaluated in three subgroups: 1) infertile/recurrent miscarriage patients with septum versus no septum 2) infertile/recurrent miscarriage patients with treated versus untreated septum 3) infertile/recurrent miscarriage patients before-after septum removal. Odds-ratios (OR) with 95% confidence intervals (CI) were calculated for outcome measures. Random-effect meta-analysis was performed and a p-value less than 0.05 was considered statistically significant. Main results and the role of chance Data from 37 articles were extracted. In the first subgroup (10 studies), a lower PR and LBR were associated with septate uterus vs. controls, respectively (OR 0.39, 95% CI 0.26 to 0.58; p &lt; 0.000; low-heterogeneity and OR 0.21, 95% CI 0.12 to 0.39; p &lt; 0.0001; small-heterogeneity) and a higher proportion of SA and PL was associated with septate uterus vs. controls, respectively (OR 4.17, 95% CI 2.83 to 6.15; p &lt; 0.000; moderate-heterogeneity and OR 2.18, 95% CI 1.27 to 3.76; p = 0.005; low-heterogeneity). In the second subgroup (8 studies), PR and PL were not different in removed vs. unremoved septum, respectively (OR 1.10, 95% CI 0.49 to 2.49; p = 0.82; moderate heterogeneity and OR 0.44, 95% CI 0.18 to 1.08; p = 0.08;low-heterogeneity) and a lower proportion of SA was associated with removed vs. unremoved septum (OR 0.40, 95% CI 0.17 to 0.95; p = 0.001; substantial-heterogeneity). In the third subgroup (19 studies), the proportion of LBR was higher after the removal of septum (OR 49.58, 95% CI 29.93 to 82.13; p &lt; 0.0001; moderate-heterogeneity) and the proportion of SA and PL was lower after the removal of septum, respectively (OR 0.02, 95% CI 0.02 to 0.04; p &lt; 0.000; moderate-heterogeneity and OR 0.05, 95% CI 0.03 to 0.08; p = &lt;0.000; low-heterogeneity). Limitations, reasons for caution The present meta-analysis is limited by the observational design of included studies because, in literature, there are no prospective randomized controlled trials (RCTs). In the second and third subgroup of analysis clinical heterogeneity within and between studies represents another limitation. Wider implications of the findings The results of this meta-analysis confirm the detrimental effect of uterine septum on PR, LBR, SA and PL. Its treatment seems to reduce the rate of SA. Metroplasty should still be considered as good clinical practice in patients with a history of infertility and recurrent abortion. Trial registration number Not applicable © The Author(s) 2020. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For permissions, please e-mail: [email protected].


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
J Samanta ◽  
L Lacey ◽  
M Isdale ◽  
M Akhtar

Abstract Study question What’s the incidence of class U1-U6 CUAs in subfertile women? What’s the clinical pregnancy rate in women with the most common anomaly, a septate uterus? Summary answer The incidence of CUAs is 5.9% in our subfertile population, with a septate uterus (U2) being the most common abnormality in 4.2% of the population What is known already Congenital uterine anomalies (CUAs) are common. A systematic review suggested an estimated overall prevalence of 5.5% in an unselected population, 8.8% in the subfertile population, 13.3% in those with a history of recurrent miscarriage and 24.5% in those with a history of subfertility and recurrent miscarriage. A septate uterus (U2) is the most common CUA and is amenable to surgical intervention although at present there is a lack of evidence suggesting benefit in subfertile patients. Women with a septate uterus are known to have poorer reproductive outcomes, including reduced conception rate and increased first trimester loss. Study design, size, duration All patients referred to our department for subfertility had a 2D pelvic ultrasound scan as part of their baseline investigations. Since it was established in 2016, all patients with a suspected CUA based on clinical history and investigations, were referred to the clinic and data collected prospectively. Prior to this, women with suspected CUAs required a hysteroscopy or MRI scan for confirmation of diagnosis, often leading to long waiting lists and treatment delays. Participants/materials, setting, methods Out of the 4716 patients referred to the department for subfertility from 2016–2018, 302 women were referred to the 3D clinic due to suspicion of a CUA. Transvaginal 3D-ultrasound scan was performed and CUAs classified according to the ESHRE/ESGE working groups. Patients diagnosed with a septate uterus were given options of conservative versus surgical treatment, in the light of unclear benefits of hysteroscopic septum resection. Clinical pregnancy data were collected about this cohort. Main results and the role of chance Of the 302 women referred to the service, the uteri of 25 patients were unable to be assessed accurately, most commonly as the cavity was unclear due to a thin endometrium. The remaining 277 patients were classified as having the following CUAs; Normal (U0) 63 patients, Dysmorphic (U1) 5 patients, Septate (U2) 199 patients, Bicorporeal (U3) 6 patients and Hemi uterus (U4) 4 patients. No women were classified as having an aplastic uterus (U5) or unclassified (U6). Of the 199 women with a septate uterus, 15 women opted for surgical intervention, 143 women decided to have conservative management and 41 women were lost to follow up. The women who had hysteroscopic resection of the septum had a mean age of 35 years, 6/15 had primary subfertility and 6/15 had a history of recurrent miscarriage. The women who had conservative management had a mean age of 32.5 years, 100/143 had primary subfertility and 20/143 had a history of recurrent miscarriage. At present, 89/143 women who have had conservative management and 12/15 women who had surgical interventions have had a clinical pregnancy, 72/89 and 6/12 of these pregnancies were IVF/ICSI pregnancies respectively. Limitations, reasons for caution This is an observational study, these findings can be useful for patient counselling. However, ideally randomised controlled trials are needed as evidence for the different treatment options for the cohort of patients with septate uterus, which are largely lacking in the current literature, as their feasibility remains a challenge. Wider implications of the findings: Three-dimensional transvaginal ultrasonography clinics are cost-effective one-stop services, successfully providing a diagnosis and management plan in 92% of patients referred with a suspected CUA. They increase patient satisfaction by providing an opportunity to discuss risks in future pregnancies and reducing reliance on hysteroscopy and MRI scans. Trial registration number Not applicable


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