History Of Recurrent Abortion Research Articles

Transcervical Fibroid Ablation (TFA): Update on Pregnancy Outcomes.

Background/Objectives: Transcervical fibroid ablation (TFA) is an incisionless method to treat symptomatic uterine fibroids. While safety regarding future pregnancy remains to be established, TFA does not preclude the possibility of pregnancy, and a previous 36-patient case series of post-TFA pregnancies reported normal outcomes. That prior series did not include postmarket cases in the United States, as the Sonata® System was initially cleared and used in Europe. This is a substantive update of known pregnancies with the Sonata System since June 2011, and includes pregnancies in Europe, Mexico, and the US. Methods: TFA was carried out under both clinical trial and postmarket use to treat symptomatic uterine fibroids. All post-TFA pregnancies reported by physicians with their patient's consent were included. Results: 89 pregnancies and 55 deliveries have occurred among 72 women treated with the Sonata System. This includes 8 women who conceived more than once after TFA. Completed pregnancies (n = 62 women) include 19 vaginal deliveries, 35 Cesarean sections, 5 therapeutic abortions, 1 ectopic pregnancy, and 1 delivery by an unknown route. Ten pregnancies are ongoing. Mean birthweight was 3276.7 ± 587.3 g. Ten women experienced 18 first-trimester spontaneous abortions (SAbs), with 10 of the 18 SAbs (55.6%) occurring between two patients with a history of recurrent abortion. The SAb rate was 22.8%, inclusive of these two patients, and 10.1% if they were excluded as outliers. There were no instances of uterine rupture, placenta accreta spectrum, or stillbirth. Conclusions: This case series, the largest to date for any hyperthermic ablation modality, suggests that TFA with the Sonata System could be a feasible, safe treatment option regarding eventual pregnancy in women with symptomatic uterine fibroids.

Pregnancy in Mullerian anomaly – A diagnostic dilemma

To report rare case of pregnancy in Mullerian Anomaly of the uterus and to understand the concept of precise diagnosis for rare cases. This is a case report at CIMS, Lucknow of patient who came to our hospital at first trimester with history of recurrent abortions and preterm delivery. She was diagnosed to have cervical incompetence initially until her abdomen was opened for LSCS when rare Mullerian Anomaly was seen to be the cause of previous obstetric history.Rare congenital anomaly was reported and the bad obstetric outcomes were known to be the symptoms of the rare cause.We need to broad our diagnosis with the fact that rare cases can also be the cause of worst conditions or some initial primary conditions.

The Effects of Nitric Oxide Production and Lymphedema Treatment on A Pregnant Female with A History of Recurrent Abortion: A Case Report

The Effects of Nitric Oxide Production and Lymphedema Treatment on A Pregnant Female with A History of Recurrent Abortion: A Case Report

Role of Sperm DNA Fragmentation Index in Semen Analysis in Couples with Unexplained Recurrent Pregnancy Loss: A Case-control Study

Introduction: Infertility has been on the rise, and male factor infertility has gained attention in cases of Recurrent Pregnancy Loss (RPL). Traditional Semen Analysis (SA) has been the main diagnostic tool, but with advancements in Assisted Reproductive Technology (ART) and the need for more accurate testing, there is a demand for improved diagnostic tests that correlate with reproductive outcomes. Sperm DNA Fragmentation Index (DFI) is a parameter used to assess the degree of sperm DNA damage and is considered crucial in evaluating semen quality. Aim: To investigate the role of Sperm DNA Fragmentation (SDF) in patients presenting with RPL compared to a control group. Materials and Methods: The study was conducted over a two-year period from January 2021 to December 2022 at the Centre for Infertility Management and Assisted Reproduction (CIMAR), Edappal Hospital, Edappal, Kerala, India. The control group (Group A; n=31) comprised males aged between 21-45 years whose partners had no history of recurrent abortions. The case group (Group B; n=31) included males with two or more pregnancy losses. Sperm DFI analysis and routine SA were performed in both groups to assess semen parameters such as volume, concentration, progressive and non progessive motility, morphology, and DFI. Statistical analysis was performed using the Independent student t-test. Results: In the present study the mean age of males in Group A was 37.03±5.416 years and in Group B was 35.44±4.552 years. There were no significant differences observed between the case and control groups in terms of sperm volume (p=0.301), concentration (p=0.155), progressive motility (p=0.207), non progessive motility (p=0.178), and morphology (p=0.362). However, a statistically significant difference was found between the RPL and control groups for DFI (p<0.001), with a mean value of ±8.15 in the control group and ±19.35 in the case group. Conclusion: The present study demonstrates that SDF is an important factor in RPL, with couples experiencing RPL showing a higher incidence of SDF. Therefore, incorporating SDF analysis alongside routine SA should be considered, particularly in patients with a history of RPL.

Low-dose aspirin protects unexplained recurrent spontaneous abortion via downregulation of HMGB1 inflammation activation.

High mobility group box protein 1 (HMGB1) is considered as a kind of sterile inflammatory mediators, which is an overexpression in patients with unexplained recurrent spontaneous abortion (URSA). Specific targeting effect of aspirin on HMGB1 has been revealed. Our previous studies have explored the application of HMGB1 as a therapeutic target of aspirin in URSA disease of mice model and human, but the dynamic process of aspirin downregulating HMGB1 concentration has not been demonstrated. From December 2018 to November 2020, women with URSA (n = 91) and control women (n = 90) with no history of recurrent abortion or adverse pregnancy were included in the Reproductive Medicine Center of the First Affiliated Hospital of Anhui Medical University. ELISA was applied to detect the concentrations of HMGB1 and IFN-γ in the peripheral blood. Thirty-one URSA patients were monitored for low-dose aspirin treatment (2 and 4 weeks), the changes of HMGB1 and IFN-γ concentrations in peripheral blood of URSA patients before and after using aspirin were compared, and pregnancy outcomes after aspirin treatment were followed up. The levels of HMGB1 in peripheral blood were significantly higher in URSA patients compared with controls, decreasing trends of HMGB1 and IFN-γ concentrations in plasma of URSA patients were observed after treatment with low-dose aspirin continuously, and the expression of HMGB1 was positively correlated with IFN-γ. There were no birth abnormalities in the babies of the URSA patients treated with aspirin. High levels of HMGB1 may be one of the pathogenesis of URSA. Low-dose aspirin may provide protective effect on the HMGB1-triggered URSA.

7728 Pregnancy Outcomes after Transcervical Fibroid Ablation (TFA) with the Sonata® System

<h3>Study Objective</h3> To describe pregnancy outcomes in women who conceived after undergoing transcervical fibroid ablation (TFA) as treatment for symptomatic uterine fibroids. <h3>Design</h3> Retrospective study. <h3>Setting</h3> Hospitals in Europe, the UK, Mexico and the US. <h3>Patients or Participants</h3> Women who reported pregnancies after undergoing TFA with the Sonata® System. <h3>Interventions</h3> TFA was used to ablate fibroids, both under clinical trial protocol and commercial usage. <h3>Measurements and Main Results</h3> To date, there have been 43 pregnancies representing 25 deliveries among 35 women who were treated with TFA. Five women conceived more than once post-ablation, and four conceived through assisted reproductive technology (ART). Outcomes include 10 vaginal deliveries, 15 Cesarean sections, 4 therapeutic abortions, and 8 first-trimester pregnancy losses. Of the 8 miscarriages, four occurred in a patient with a history of recurrent abortion and an immunologic disorder and she subsequently had a delivery at term. Six women are currently pregnant. All 5-minute Apgar scores were >7 and all neonates weighed >2500 gms. Deliveries occurred at ≥37 weeks, except for one delivery at 35 6/7 weeks. There were no uterine ruptures or abnormal placentation and no reports of postpartum hemorrhage. Cesarean sections were performed for standard obstetric indications, including non-reassuring fetal monitoring in a patient with HELLP syndrome, fetal macrosomia, dystocia and patient choice. On average, 1.4 fibroids were ablated per patient, and these included transmural, submucous and intramural myomata up to 7 cm in diameter. <h3>Conclusion</h3> Normal pregnancy outcomes at term have occurred after TFA with the Sonata System, including in women with recurrent abortion and in those undergoing ART.

Risk factors for missed abortion: retrospective analysis of a single institution’s experience

ObjectiveTo explore the risk factors including the difference between mean gestational sac diameter and crown-rump length for missed abortion.MethodsHospitalized patients with missed abortion and patients with continuing pregnancy to the second trimester from Chengdu Women's and Children's Central Hospital from June 2018 to June 2021 were retrospectively analyzed. The best cut-off value for age and difference between mean gestational sac diameter and crown-rump length (mGSD-CRL) were obtained by x-tile software. Univariate and multivariate logistic regression analysis were adopted to identify the possible risk factors for missed abortion.ResultsAge, gravidity, parity, history of cesarean section, history of recurrent abortion (≥ 3 spontaneous abortions), history of ectopic pregnancy and overweight or obesity (BMI > 24 kg/m2) were related to missed abortion in univariate analysis. However, only age (≥ 30 vs < 30 years: OR = 1.683, 95%CI = 1.017–2.785, P = 0.043, power = 54.4%), BMI (> 24 vs ≤ 24 kg/m2: OR = 2.073, 95%CI = 1.056–4.068, P = 0.034, power = 81.3%) and mGSD-CRL (> 20.0vs ≤ 11.7 mm: OR = 2.960, 95% CI = 1.397–6.273, P = 0.005, power = 98.9%; 11.7 < mGSD-CRL ≤ 20.0vs > 20.0 mm: OR = 0.341, 95%CI = 0.172–0.676, P = 0.002, power = 84.8%) were identified as independent risk factors for missed abortion in multivariate analysis.ConclusionPatients with age ≥ 30 years, BMI > 24 kg/m2 or mGSD-CRL > 20 mm had increasing risk for missed abortion, who should be more closely monitored and facilitated with necessary interventions at first trimester or even before conception to reduce the occurrence of missed abortion to have better clinical outcomes.

APLA Syndrome in Pregnancy and its Outcome: A Case Report

Antiphospholipid antibody syndrome is a heterogenous autoantibody mediated acquired thrombophilia, which is associated with severe life threatening complications during pregnancy and most important treatable cause of recurrent pregnancy loss. It was described in 1980s by E Nigel Harris and Aziz Gharavi. It is also called as Hughes syndrome. Clinician should have high index of suspicion of APLA in patient with history of recurrent abortions, Intra uterine death with unexplained cause. We are presenting a case of 27yr old G2A1 with 38 wks. of POG with history of pulmonary thromboembolism and pulmonary hypertension and deep vein thrombosis 2 years ago, she was diagnosed with APLA syndrome. Patient was followed up to term and she was asymptomatic throughout the pregnancy. She had full term normal delivery. Both mother and baby were stable and healthy. She was asymptomatic in her postpartum period

Pulmonary Endarterectomy in Patients with Antiphospholipid Syndrome-Associated Chronic Thromboembolic Pulmonary Hypertension.

BackgroundAntiphospholipid syndrome is an autoimmune disease characterized by the occurrence of venous and/or arterial thrombosis. Chronic thromboembolism is one of the known established pathogenesis of pulmonary hypertension, known as chronic thromboembolic pulmonary hypertension. Pulmonary endarterectomy is the treatment of choice for chronic thromboembolic pulmonary hypertension. The aim of this study is to evaluate the efficacy and risk of pulmonary endarterectomy in patients with antiphospholipid syndrome-associated chronic thromboembolic pulmonary hypertension.MethodsData were prospectively collected and retrospectively analyzed, for patients who underwent pulmonary endarterectomy between March 2011 and March 2020.ResultsSeventeen patients (4 male and 13 female) were identified. Thirteen patients had primary antiphospholipid syndrome and 4 had secondary antiphospholipid syndrome. The mean age was 34.82 ± 10.07 years and the mean time interval between the diagnosis and surgery was 26.94 ± 17.35 months. Dyspnea on exertion was the main symptom in all patients. Seven patients had previous deep vein thrombosis, 5 patients had a history of recurrent abortions, and 2 patients had hemoptysis. Following surgery, mean pulmonary artery pressure decreased from 47.82 ± 13.11 mm Hg to 22.24 ± 4.56 mm Hg (P < .001), and pulmonary vascular resistance improved from 756.50 ± 393.91 dyn/s/cm−5 to 298.31 ± 132.84 dyn/s/cm−5 (P < .001). There was no in-hospital mortality with a mean follow-up of 75.29 ± 40.21 months. The functional capacity of all patients improved from 269.46 ± 111.7 m to 490 ± 105.34 m on a 6-minute walking test.ConclusionsPulmonary endarterectomy is a safe and curative treatment in patients with antiphospholipid syndrome-associated chronic thromboembolic pulmonary hypertension. It has a favorable outcome by increasing the quality of life. A multidisciplinary experienced chronic thromboembolic pulmonary hypertension team is critical in the management of these unique patients.

Study of common chromosomal abnormalities and Plasminogen activator Inhibitor(PAI-1) gene Polymorphism (5G/4G) and Prothrombin (F2)gene mutation(G20210A) in women with recurrent abortions in the North West of Iran

Background. Parental chromosomal abnormalities as well as changes in genes encoding thrombophilic factors are common causes of recurrent abortions. One of the causes of thrombophilia is Factor II (F2) gene mutation (G20210A) and plasminogen activator inhibitor gene (PAI-1) polymorphism (4G/5G). Therefore, the present study aimed to investigate the frequency of chromosomal abnormalities and the association of thrombophilic gene polymorphisms in patients with abortion in northwestern Iran. Methods. In the present case-control study, cytogenetic analysis of 60 couples with a history of recurrent abortions was performed by the standard 72-hour culture of lymphocytes and G-banding. The polymorphism (5G/4G) of PAI-1 gene and the mutation (G20210A) of F2 genes were evaluated using RFLP-PCR and ARMS-PCR molecular methods, respectively. The obtained data were analyzed using statistical software. Results. No significant abnormalities affecting abortion were observed in cytogenetic studies; in the molecular study, the frequency of the 4G allele in patients and control groups were 54.2% and 33.3%, respectively; the frequency of 5G allele in the patients and control groups were 45.8% and 66.8%, respectively. The frequency of 5G/5G and 4G/5G genotypes is 25.0% and 41.6% in the patient group, and 55.0% and 23.3% in the control group, respectively. Also, the frequency of 4G/4G genotype in patients and controls were 33.3% and 21.6%, respectively. Conclusion. The results of this study show that there is a significant relationship between the frequency of the 4G allele of the PAI-1 gene with susceptibility to recurrent abortions in northwestern women, while no was relationship between F2 gene mutation and recurrent abortions was observed.

Pregnancy Outcomes after Transcervical Radiofrequency Ablation of Uterine Fibroids with the Sonata® System

<h3>Study Objective</h3> To describe pregnancy outcomes in women who conceived after undergoing transcervical fibroid ablation (TFA) as treatment for symptomatic uterine fibroids. <h3>Design</h3> Retrospective study. <h3>Setting</h3> Hospitals in Europe, the UK, Mexico and the US. <h3>Patients or Participants</h3> Women who reported pregnancies after undergoing TFA with the Sonata® System. <h3>Interventions</h3> TFA was used to ablate fibroids, both under clinical trial protocol and commercial usage. <h3>Measurements and Main Results</h3> To date, there have been 32 pregnancies representing 18 deliveries among 25 women who were treated with TFA. Four women conceived more than once post-ablation, and four conceived as a result of assisted reproductive technology (ART). Outcomes include 8 vaginal deliveries, 10 Cesarean sections, 3 therapeutic abortions, and 8 miscarriages (four occurring in a patient with a history of recurrent abortion and an immunologic disorder). Three women are either currently pregnant or have outcomes pending. There were no 5-minute Apgar scores <7, and all neonates weighed >2500 gms. All deliveries occurred at ≥37 weeks, except for one delivery at 35 6/7 weeks. There were no uterine ruptures or abnormal placentation and no reports of postpartum hemorrhage. One patient developed HELLP syndrome and had an emergent C/S after a trial of labor at term, while another underwent C/S for fetal macrosomia. Ablated fibroids included transmural, submucous and intramural myomata up to 6.6 cm in diameter. <h3>Conclusion</h3> Normal pregnancy outcomes at term have occurred after TFA with the Sonata System, including in women with recurrent abortion and in those undergoing ART.

Factores de riesgo genético y diagnóstico prenatal

Objective: To identify genetic risk factors and frequency and to describe congenital defects of the fetus. Methods: The research was conducted at the Genetic Research Institute of the Faculty of Medicine. University of Zulia. Maracaibo. We studied patients who attend to the prenatal genetic clinic. According to the Genetic risk factors Identified, it indicated different prenatal diagnostic procedures: fetal echography, fetal echocardiography, triple maternal serum marker, amniocentesis for fetal karyotype and molecular analysis. Results: We included 568 patients. 79.05% of the total showed only one genetic risk factor and the 20.95% two or more. The advanced maternal age was the most frequent genetic risk factor found (40.85%), followed by first-degree family history with a congenital defect (35.21%), abnormal fetal echography (13.73%), exposure to teratogenic agents (10.39%), history of recurrent abortion (7.04%), history of fetal death (4.22%), consanguinity (1.93%), and history of neonatal death (1.76%). They were diagnosed 101 fetuses with congenital defects, one balanced translocation, two fetal deaths and 26 spontaneous abortions. Conclusion: The genetic risk factors identification, served as a starting point to indicate prenatal diagnostic procedures allowed a health evaluation of the fetus and adequate genetic counseling. Key words: Prenatal diagnosis, Risk factors, Genetic counseling.

Prevalence and Multiplicity of Thrombophilia Genetic Polymorphisms of F V, MTHFR, F II, and PAI -I: A Cross-Sectional Study on a Healthy Jordanian Population.

BackgroundFV, MTHFR, II, and PAI-I are the most common genes associated with thrombophilia genetic variants, which vary among different populations and ethnic groups. Little is known about the prevalence and multiplicity of these variants in Jordan. The aim of this study was to estimate the prevalence and multiplicity of the FV G1691A, FV H1299R, MTHFR 1298A>C, MTHFR 677C>T, II 20210G>A, and PAI-I 675 4G/5G variants among healthy Jordanians.MethodsThis cross-sectional study was conducted on randomly selected healthy Jordanian participants. Non-Jordanians and those with a history of arterial/venous thrombosis, atherosclerosis, or a history of recurrent abortions were excluded from the study. PCR was used to detect variants in DNA extracted from participants’ blood samples.ResultsA total of 300 subjects were screened: 170 (56.7%) females with an average age of 27.78±9.32 years and 130 (43.3%) males with an average age of 29.88±8.55 years. Genetic variants (at least one) were found in 75% of the subjects (81.2% among females and 66.9% among men), while 64.7%, 52%, and 12% were found to have at least two, three, and four variants, respectively. Overall, 21%, 29%, 54.3%, 27.3%, 7.7%, and 66% of participants were found to have FV G1691A, FV H1299R, MTHFR 1298A>C, MTHFR 677C>T, II 20210G>A, and PAI-I 675 4G/5G gene variants, respectively.ConclusionThree-quarters of our population had at least one of the thrombophilia genetic variants, and most had more than one variant. The most common variants detected were associated with MTHFR, followed by PAI-I, FV, and then II. We observed that females had higher prevalence estimates than males. However, multiplicity among males was significantly higher than females. Our findings indicated noticeable differences in prevalence estimates compared with other populations.

Analysis of the differentiation of peripheral B-lymphocytes in pregnant women with a habitual miscarriage

The frequency of recurrent miscarriage among all desired pregnancies is 2-5 %. The important role of immune disorders in early termination of pregnancy has been proven. Elucidation of the nature of differentiation of B-lymphocytes in women with threatened miscarriage and habitual miscarriage in the anamnesis seems relevant, since it will clarify the immune mechanisms of the pathogenesis of this pathology. Aim of the study was to assess the nature of differentiation and type of the cytokine-producing function of peripheral B lymphocytes in women with a threatening spontaneous miscarriage and recurrent miscarriage in history.Material and methods. Pregnant women aged 18-40 years at a gestation period of 5-12 weeks were examined. The main group consisted of 60 pregnant women with a threatening spontaneous abortion at the time of the examination and a history of recurrent abortion. 35 pregnant women with uncomplicated pregnancy were examined as a control group. The comparison group consisted of 25 primary pregnant women with threatened spontaneous abortion at the time of the examination. The material for the study was peripheral venous blood. Subpopulations of B lymphocytes CD20+CD5+, CD20+CD5-, CD19+IgD+, CD20+IgM+, CD20+IgG+; CD19+CD20-CD38+, CD19+CD27-, CD19+CD27+, CD19+IgD+CD27+, CD19+IgD+CD27-, CD20+IL-4+, CD20+IL-6+, CD20+IL-10+ were determined by the method of flow cytometry.Results and discussion. In the main group, an increase in the proportion of B cells in the peripheral blood was recorded, mainly due to B2 lymphocytes, CD20 +IgM+ lymphocytes and memory cells, along with a decrease in the level of naive cells and plasma cells, as well as lymphocytes spontaneously expressing IL-6 and IL-10. Thus, the threatening habitual miscarriage is associated with a shift in B-lymphocyte differentiation towards immature forms. A decrease in the number of CD20+IL-10+ cells in patients of the main group can lead to a weakening of the suppressor associated with IL-10 and subsequent impairment of the maternal organism’s tolerance to a semi-allogeneic fetus. Similar changes in the differentiation and functional activity of B-lymphocytes were also observed with a threatening loss of the first pregnancy, which may indicate a single mechanism for the development of a threatening spontaneous miscarriage, the severity of which increases with repeated loss of pregnancy.

An incidental finding of a unicornuate uterus with non-communicating rudimentary horn in a 30-year-old female with recurrent abortion

Unicornuate uterus is a form of uterine anomalies which arise from failure of development and fusion of the Mullerian ducts, and accounts for about 2.4-13% of all Mullerian anomalies. This is a 30-year-old housewife referred for hysterosalpingography (HSG) on account of secondary infertility. The patient also had history of recurrent abortion in the first trimester. The HSG showed an ellipsoidal or Banana shaped uterus in the left lateral pelvic cavity with prominent left fallopian tube that showed peri-fimbrial spillage of contrast medium with non-demonstration of a communicating rudimentary horn. She also had a pelvic ultrasound that showed an empty uterus with a right hypoechoic solid area most likely the right rudimentary horn. We report the radiologic features of Unicornuate uterus due to its rare nature and peculiar presentation

Assessment of the Frequency and Molecular Identity of Mycoplasma Species in Women with a History of Idiopathic Recurrent Abortion: A Case Control Study

Background:Abortion is the most common complication in the first trimester of pregnancy. Infections are reported as the etiology of abortions. Some species of Mycoplasmas are seen in the lower genital tract. The aim of this study was to investigate the frequency and the molecular identity of Mycoplasma species in women with a history of idiopathic recurrent abortion.&#x0D; Methods:This study was carried out on 68 women with a history of recurrent abortion. Detecting 16S rRNA to identify the infection of Mycoplasma was done by polymerase chain reaction (PCR) on cervical samples. Furthermore, the sequencing of positive samples was performed to identify the species of Mycoplasma. &#x0D; Results: The results showed that only one woman with history of three times abortions was infected by Mycoplasma. Her gestational age was six weeks and she had apparent signs of infection. After sequencing, Mycoplasma genitalium was diagnosed as the infectious agent. The prevalence rate of Mycoplasma was 1.47% and 0% in the case and control groups, respectively. There was no significant association betweenabortion and Mycoplasma infection. &#x0D; Conclusion:It seems more studies are necessary to evaluate the relationship between Mycoplasma infection and abortion. Moreover the increase in the level of public health due to better education and the improvement of contraceptive methods compared to the past has created a significant reduction in Mycoplasma infection.

Effectiveness of the use of Low Molecular Heparin in patients with repetition abortion history: Systematic review and meta-analysis.

Objective:To evaluate the efficacy and safety of using low molecular weight heparin (LMWH) in women with a history of recurrent abortion without an identified cause.Methods:To develop a systematic review to select the studies. Total found 437 papers. Seven studies were completed or requested. The following variables were analyzed: clinical pregnancy, implantation rate, live births, abortion, premature birth, pregnancy, continuous pregnancy, beyond the 20th gestational week, congenital abnormality, hemorrhage, preeclampsia, placental premature detachment.Results:The LMWH group had a higher incidence of continuous pregnancy after the 20th week of gestation and there was no significant difference between the LMWH group and the expectant management group in the analysis of other variables.Conclusions:There was no data showing risk and/or less use of LMWH compared to expectant management; on the contrary, LMWH use increased the incidence of evolutionary pregnancy after the 20th gestational week. LMWH has some influence on prophylactic treatment of repeat abortion for unknown cause.

The rs16944 SNP in IL-1B and risk of polycystic ovarian syndrome

Polycystic ovary syndrome (PCOS) is the most common endocrine condition in females during the reproductive years. Several genetic factors have been shown to impact the normal ovulation and be involved in the pathogenesis of PCOS. Genes regulating immune responses are among these factors. In the current investigation, we genotyped a variant in Interleukin (IL)-1B gene (rs16944) in 270 patients with PCOS (including 154 infertile cases (PCOS-I) and 116 cases with history of recurrent abortion (PCOS-A)) and 112 healthy controls. There was no significant difference in frequencies of rs16944 alleles/genotypes between PCOS-I subjects and healthy controls. However, the G allele of the rs16944 SNP was less frequent among PCOS-A cases compared with controls (OR (95% CI) = 0.58 (0.4–0.84), P value = 0.004). The rs16944 SNP was associated with PCOS-A in co-dominant (GG vs. AA: OR (95% CI) = 0.37 (0.18–0.76), P value = 0.02), dominant (AG + GG vs. AA: OR (95% CI) = 0.51 (0.28–0.91), P value = 0.02) and recessive (GG vs. AG + AA: OR (95% CI) = 0.50 (0.27–0.92), P value = 0.02) models. Taken together, the mentioned SNP can be regarded as a risk locus for a certain type of PCOS in Iranian population.

Medical termination of pregnancy in bicornuate uterus with twin gestation

The incidence of uterine anomalies in general population is about 3-5 %.abnormalities of fusion of mullerian duct during embryogenesis results in varied congenital abnormalities like arcuate, septate, uni-cornuate, bi-cornuate uterus. Majority of them are asymptomatic. The suspicion of uterine abnormalities is always considered when there is a history of recurrent abortions, intrauterine growth restrictions, preterm labour, mal-presentations. We are presenting a 31 year old pregnant women who came with history of urine pregnancy test positive at 56 days of amenorrhea and requested medical termination of pregnancy. On ultrasound examination a bi-cornuate uterus with pregnancy in both horns of the uterus was imaged. Her first pregnancy was a normal full term delivery one year ago. She was not diagnosed with bi-cornuate uterus in her previous pregnancy. She was given a combination of mifepristone and misoprostol for termination of pregnancy, which ended in a successful medical termination of pregnancy, confirmed by transvaginal ultrasound done two weeks later.

A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.

Objective Tricuspid atresia (TA) is a rare life-threatening form of congenital heart defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event, as the primary sign of cardiac valvulogenesis, is governed by several overlapping signaling pathways including Ras/ ERK pathway. RASA1, a regulator of cardiovascular development, is involved in this pathway and its haploinsufficiency (due to heterozygous mutations) has been identified as the underlying etiology of the autosomal dominant capillary malformation/arteriovenous malformation (CM/AVM). Materials and Methods In this prospective study, we used whole exome sequencing (WES) followed by serial bioinformatics filtering steps for two siblings with TA and early onset CM. Their parents were consanguineous which had a history of recurrent abortions. Patients were carefully assessed to exclude extra-cardiac anomalies. Results We identified a homozygous RASA1 germline mutation, c.1583A>G (p.Tyr528Cys) in the family. This mutation lies in the pleckstrin homology (PH) domain of the gene. The parents who were heterozygous for this variant displayed CM. ConclusionThis is the first study reporting an adverse phenotypic outcome of a RASA1 homozygous mutation. Here, we propose that the phenotypic consequence of the homozygous RASA1 p.Tyr528Cys mutation is more serious than the heterozygous type. This could be responsible for the TA pathogenesis in our patients. We strongly suggest that parents with CM/AVM should be investigated for RASA1 heterozygous mutations. Prenatal diagnosis and fetal echocardiography should also be carried out in the event of pregnancy in heterozygous parents.