Aetiology Of Miscarriage Research Articles

Low follistatin level is a causal risk factor for spontaneous abortion: a two-sample mendelian randomization study.

Recurrent pregnancy loss is a distressing event during pregnancy, and understanding its causal factors is crucial. Follistatin, a glycoprotein involved in folliculogenesis and embryogenesis, has been implicated as a potential contributor to the risk of spontaneous abortion. However, establishing a causal relationship requires rigorous investigation using robust methods. In this study, we utilized mendelian randomization (MR), a powerful genetic epidemiological approach, to examine the causal relationship between follistatin levels and spontaneous abortion. We obtained instrumental variables strongly associated with follistatin levels from large-scale genome-wide association from the IEU database. The inverse variance weighting (IVW) method was taken as gold standard. We also performed sensitivity test to evaluate the robustness of our result. MR analysis revealed a significant causal relationship between low follistatin levels and spontaneous abortion (p = 0.03). Sensitivity analyses, including pleiotropy test, heterogeneity test, and leave-one-out analysis, all supported the robustness of our findings. Our study provides compelling evidence supporting the causal relationship between low follistatin levels and increased risk of spontaneous abortion. These findings underscore the importance of follistatin in the etiology of spontaneous abortion and suggest potential preventive interventions. Modulating follistatin levels or relevant pathways could hold promise for reducing the incidence of spontaneous abortion and improving reproductive outcomes. The utilization of MRs strengthens the validity of our results by mitigating confounding and reverse causality biases. Further research is needed to elucidate the underlying molecular mechanisms and explore therapeutic strategies targeting follistatin levels.

Clinical application of single nucleotide polymorphism microarray analysis in pregnancy loss in Northwest China.

Background: Spontaneous abortion is the most common complication of early pregnancy. In this study, we aim to investigate the clinical application value of genetic diagnosis using single nucleotide polymorphism (SNP) microarray analysis on the products of conception and to characterize the types of genetic abnormalities and their prevalence in pregnancy loss in Northwest China. Methods: Over 48months, we selected 652 products of conception, which included chorionic villi, fetal tissues, germ cell samples, amniotic fluid samples, cord blood samples, and a cardiac blood sample. We analyzed the distribution of chromosomal abnormalities leading to fetal arrest or abortion using SNP array. The patients were then categorized divided into groups based on maternal age, gestational age, number of miscarriages, and maternal ethnic background. The incidences of various chromosomal abnormalities in each group were compared. Results: Of the 652 cases, 314 (48.16%) exhibited chromosomal abnormalities. These included 286 cases with numerical chromosomal abnormalities, 24 cases with copy number variation, and four cases with loss of heterozygosity. Among them, there were 203 trisomy cases, 55 monosomy cases, and 28 polyploidy cases. In the subgroup analysis, significant differences were found in the frequency of numerical chromosomal abnormalities and copy number variation between the advanced and younger maternal age group as well as between the early and late abortion groups. Furthermore, we identified significant differences in the frequency of numerical chromosomal abnormalities between the first spontaneous abortion and recurrent miscarriage groups. However, there were no significant differences in the frequency of numerical chromosomal abnormalities between the Han and Uighur groups. Conclusion: Our research highlights chromosomal abnormalities as the primary cause of spontaneous abortion, with a higher incidence in early pregnancy and among women of advanced age. The use of SNP array analysis emerges as an effective and reliable technique for chromosome analysis in aborted fetuses. This method offers a comprehensive and dependable genetic investigation into the etiology of miscarriage, establishing itself as a valuable routine selection for genetic analysis in cases of natural abortions.

Macroscopic study of the collection of human fetuses from Granada University

The anatomical collections of fetuses are a valuable element of study and research in universities. At the University of Granada, the Department of Human Anatomy and Embryology has a collection of 283 fetuses. The purpose of this article has been to carry out an exhaustive study on these fetuses to present data related to the malformations they presented. Regarding the results, it is worth noting the presence of a higher frequency of aborted fetuses between 4.5 and 6 months of development and the presence of macroscopically evident malformations in 56% of them. In conclusion, this study assesses the usefulness for teaching and research of this anatomical material and the results provide data of interest on fetal development and the etiology of spontaneous abortions.

A Case Study of Miscarriage Issues among Women in Developing Countries

Spontaneous abortion is a health issue that is prevalent among different countries. Presently, spontaneous abortion attests to a progressive increase in most developing countries of which our point of discuss borders on Zimbabwe, India and Nigeria. Developing countries are plagued with higher levels of stress in the homes and workplaces and avail little consideration on the health of a pregnant woman and her child. Bringing into focus the meaning, character, and etiology of spontaneous abortion, I will analyze the influencing factors on spontaneous abortion. The actions and strategies to implement to help curb the increased rate of spontaneous abortion should include; the implementation of policies to help reduce stress in working environments, especially for pregnant women, and educational measures to the general public concerning the health of pregnant women.

Risk of spontaneous abortion after periconceptional medication use: Time to tackle the methodological challenges.

Risk of spontaneous abortion after periconceptional medication use: Time to tackle the methodological challenges.

SPERM GENOMIC AND EXTRAGENOMIC CARGO IN RECURRENT MISCARRIAGE AND IMPLANTATION FAILURE

The defects in the integrity of both nuclear and mitochondrial genome, oxidative stress, shortened telomeres and dysregulation in the expression of the genes critical for early embryonic development have been implicated as a cause of pregnancy loss. Assessing the expression of the genes critical for post fertilization events and reproductive outcomes may help us better understand the unknown molecular mechanism involved in the etiology of miscarriage and implantation failure. The objective of the present case control study was to analyze the contribution of sperm genomic and extragenomic cargo in pregnancy loss.

The role of chronic cervicitis and disorders of local immunity of the cervix in the etiology of undeveloped pregnancy

Aim. To determine the role of chronic cervicitis and violations of local immunity of the cervix in the etiology of miscarriage of the first trimester, as well as to justify the necessary scope of examination for timely therapeutic and preventive measures.
 Materials and methods. The results of a prospective and retrospective study of 225 women with undeveloped pregnancy who were admitted to a gynecological hospital are presented. All women received microscopic, cultural, and molecular genetic (PCR), studies of vaginal and cervical canal discharge, cytological studies of scrapings from the cervical canal and cervix, studies of the structure of cervical mucus and its immunoglobulin A, and pathomorphological studies of the fetal egg. According to the results of the pathomorphological examination of the abortion material in combination with the clinical data, the examined patients were divided into 2 groups. Group 1 included 95 women with bacterial infection of the fetal egg, group 2 90 women with viral infection of the fetal egg. As a control group, 40 women with normal progressive pregnancy were taken, who were admitted for its artificial termination.
 Results. Inflammatory diseases of the lower genital organs in the group of women with bacterial infection of the fetal egg are significantly more common than in the group of viral infection of the fetal egg and the control group, and correlate with the results of pathomorphological studies in more than 86.7% of cases. In the group of women with bacterial infection, according to the results of the study of the structure of cervical mucus and the level of secretory IgA, a decrease in local immunity of the cervix was revealed.
 Conclusion. The analysis of the research results allows us to confirm the concept of ascending infection of the fetal egg in the bacterial etiology of undeveloped pregnancy, which deserves the practical attention of obstetricians and gynecologists and further study for the timely treatment of at hospital phase dysbiotic and inflammatory diseases of the lower parts of the female genital organs during pregravidar preparation.

Vitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages

A few years ago it was shown that disturbed metabolism of the vitamin D/receptor (VD/VDR) complex may be important in the etiology of spontaneous abortion, as well as in the etiology of recurrent miscarriages (RM). The goal of this study was to investigate the association between four maternal VDR polymorphisms as well as haplotypes settings and RM occurrence in a Polish population of women in reproductive age. A total of 230 women were recruited to this study (110 with RM, 120 consecutively recruited age-matched healthy women with at least two full-term pregnancies and with no history of miscarriages). DNA samples were genotyped for VDR polymorphisms: FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232) and TaqI (rs731236). Significant differences in genotype distributions and allele frequencies between case and control groups were observed in VDR BsmI polymorphism (GG vs. GA and AA, OR = 0.56, p = 0.036 and OR = 1.49, p = 0.035, respectively). The best evidence of an association with RM prevention was observed for the TTGT haplotype, which was more frequent among controls than cases even after permutation test (0.09 vs. 0.017, p = 0.0024). Other haplotypes were also significantly more frequent in the control group: TGT (rs7975232, rs1544410, rs2228570), TG (rs7975232, rs1544410), TTG (rs731236, rs7975232, rs1544410), TT (rs731236, rs7975232). Our research indicated the possible role of VDR BsmI genetic polymorphism in RM etiology, suggesting at the same time the active role of maternal VD metabolism and its influence on pregnancy outcome. The significant influence of several maternal haplotypes was shown to prevent RM occurrence.

Elevated non-essential metals and the disordered metabolism of essential metals are associated to abnormal pregnancy with spontaneous abortion

Spontaneous abortion is a considerable threat to the physiology and mental health of the mother. The etiology of spontaneous abortion is multifactorial with complicated mechanisms, of which overexposure to non-essential metals (especially heavy metals) has been proposed to be associated with adverse birth outcomes. However, significant knowledge gaps remain to be filled in, such as the deleterious profile of non-essential metals and their interplay with essential metals in abnormal pregnancy. Under this setting, we aimed to address these challenges by conducting a cross-sectional study on 56 patients with spontaneous abortion in the 1st trimester, by comparing to 55 healthy pregnant women in 1st the trimester and 41 non-pregnant healthy women. Overexposure to a few non-essential metals, such as arsenic (As), antimony (Sb) and bismuth (Bi), was found in patients with spontaneous abortion, and likewise, some essential elements, such as magnesium (Mg), copper (Cu), vanadium (V), strontium (Sr) and tin (Sn), were also found to be elevated under spontaneous abortion. Further evidence of abnormal pregnancy was induced by a reduced level of internal hormones necessary for normal gestation, such as estradiol (E2) and progesterone (PRGE) in women with spontaneous abortion. Lactate dehydrogenase (LDH) and thyroid-stimulating hormone (TSH) levels were slightly increased in patients with spontaneous abortion. Comprehensive correlation analyses were carried out to identify the crucial factors that result in abortion. Our data stratified the important variables in decreasing order: PRGE, As, Mg, Sb, Sr, Sn, Bi and pregnant times in the progress of spontaneous abortion. Moreover, labyrinthine associations were uncovered between PRGE, non-essential metals and essential elements in causing spontaneous abortion. Therefore, our combined data unveiled the likely synergistic implications of elevated non-essential metals and the disordered metabolism of essential metals in abnormal pregnancy.

Systematic analysis of copy-number variations associated with early pregnancy loss.

Embryonic numerical and structural chromosomal abnormalities are the most common cause of early pregnancy loss. However, the role of submicroscopic copy-number variations (CNVs) in early pregnancy loss is unclear, and little is known about the critical regions and candidate genes for miscarriage, because of the large size of structural chromosomal abnormalities. The aim of this study was to identify potential miscarriage-associated submicroscopic CNVs and critical regions of large CNVs as well as candidate genes for miscarriage. Over a 5-year period, 5180 fresh miscarriage specimens were investigated using quantitative fluorescent polymerase chain reaction/CNV sequencing or chromosomal microarray analysis. Statistically significant submicroscopic CNVs were identified by comparing the frequency of recurrent submicroscopic CNVs between cases and a published control cohort. Furthermore, genes within critical regions of miscarriage-associated CNVs were prioritized by integrating the Residual Variation Intolerance Score and the human gene expression dataset for identification of potential miscarriage candidate genes. Results without significant maternal-cell contamination were obtained in 5003 of the 5180 (96.6%) cases. Clinically significant chromosomal abnormalities were identified in 59.1% (2955/5003) of these cases. Three recurrent submicroscopic CNVs (microdeletions in 22q11.21, 2q37.3 and 9p24.3p24.2) were significantly more frequent in miscarriage cases, and were considered to be associated with miscarriage. Moreover, 44 critical regions of large CNVs were observed, including 14 deletions and 30 duplications. There were 309 genes identified as potential miscarriage candidate genes through gene-prioritization analysis. We identified potential miscarriage candidate CNVs and genes. These data demonstrate the importance of CNVs in the etiology of miscarriage and highlight the importance of ongoing analysis of CNVs in the study of miscarriage. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Salinity and Miscarriage: Is There a Link? Impact of Climate Change in Coastal Areas of Bangladesh - A Systematic Review

Salt is a noteworthy mineral component that plays a major role in health and infection. Unreasonable salt intake is a major reason for hypertension, cardiovascular illness, and stroke. It is assessed that 884 million individuals don’t have access to clean water in the world. The expanding saltiness of characteristic drinking water sources has been accounted for as one of the numerous issues that influence low-pay nations, however one which has not been completely investigated. This problem is exaggerated by rising sea levels, climate change as well as. The developed countries are used desalination trees for reducing the salinity level, in any case, this is probably not going to be a reasonable choice for low-salary nations influenced by high saltiness like Bangladesh. Miscarriage and preeclampsia are the most widely recognized pregnancy factor with various etiological elements, including inflammatory and autoimmune conditions. All the more as of late, various investigations demonstrated that unreasonable salt intake is engaged with the advancement of inflammatory procedures through the enlistment of the T helper-17 pathway and their inflammatory cytokines. Then again, miscarriage, preeclampsia, and adverse pregnancy outcome have been demonstrated in several studies indicated the pivotal role of inflammation in the etiology. Here, it is assumed that unreasonable salt intake during the time of pregnancy can highly be associated with increased risk of miscarriage, and adverse pregnancy outcome. Subsequently, the risk of miscarriage and adverse pregnancy status can be reduced by taking the low salt intake around the time of pregnancy status. This paper also describes the role of salt in the etiology of miscarriage and preeclampsia.

PATHOGENIC ARGUMENTATION OF THERAPY IN PREGNANT WOMEN WITH FUNCTIONAL CERVICAL INSUFFICIENCY

A functional cervical insufficiency plays an important role in the etiology of miscarriage and premature birth.The aim of research - was to estimate the hormonal balance indexes during the course of pregnancy in pregnant women with functional cervical insufficiency and correct the revealed violations in order to prevent obstetric complications.Materials and methods of research. 101 pregnant women with confirmed diagnosis of a cervical insufficiency in term of gestation 22-32 weeks of pregnancy (the main group) and 34 pregnant women and women in labor with physiological condition of the cervix (the control group) were examined. The content of estradiol, progesterone, cortisol and prolactin was examined in the blood serum. On the second stage of examination 63 pregnant women obtained general basic therapy (I main group) and 38 pregnant women (II main group) received a developed treatment complex which included progesterone support by the micronized progesterone 200-400 mg twice a day up to 34-35 weeks of pregnancy, magnesium support by the magnesium orotate dehydrate in the therapeutic dosage and arginine glutamate in the therapeutic dosage. The correction of cervical insufficiency was performed with the help of a cervical pessary (according to indications).The results of research and their discussion. The examination of hormonal balance revealed an accurate decease of progesterone concentration on the background of high concentration of estradiol and increased levels of stress-associated hormones. Propitious influence of the developed therapy is proved by increase of progesterone concentration in the blood serum, normalization in stress-associated hormones balance according to gestational age. All this provided the decrease of specific weight of threatened preterm labors, placental dysfunction, vaginitis, bacterial vaginosis and delay the labors up to 38-39 weeks of gestation in 97,4% of pregnant women (82,5% in the I main group).Conclusion. Prescription of micronized progesterone, magnesium orotate dehydrate, arginine glutamate to pregnant women with a cervical insufficiency is reasonable and effective one comparing with general and traditional therapy.

Modern view on the problem of optimization of therapy in pregnant women with functional cervical insufficiency

A functional cervical insufficiency plays an important role in the etiology of miscarriage and premature birth. The aim of research was to estimate the hormonal balance indexes during the course of pregnancy in pregnant women with functional cervical insufficiency and to correct the revealed violations in order to prevent obstetric complications. 101 pregnant women with confirmed diagnosis of a functional cervical insufficiency in term of gestation 22–32 weeks of pregnancy (the main group) and 34 pregnant women and women in labor with physiological condition of the cervix (the control group) were examined. The content of estradiol, progesterone, cortisol and prolactin was examined in the blood serum. On the second stage of examination 63 pregnant women obtained general basic therapy (I main group) and 38 pregnant women (II main group) received a developed treatment complex which included progesterone support by the micronized progesterone 200–400 mg twice a day up to 34–35 weeks of pregnancy, magnesium support by the magnesium orotate dehydrate in the therapeutic dosage and arginine glutamate in the therapeutic dosage. The correction of cervical insufficiency was performed with the help of a cervical pessary (according to indications). The examination of hormonal balance revealed an accurate decease of progesterone concentration on the background of high concentration of estradiol and increased levels of stress-associated hormones. Propitious influence of the developed therapy is proved by increase of progesterone concentration in the blood serum, normalization in stress-associated hormones balance according to gestational age. All this provideded the decrease of specific weight of threatened preterm labors, placental dysfunction, vaginitis, bacterial vaginosis and delay the labors up to 38–39 weeks of gestation in 97,4% of pregnant women (82,5% in the I main group). Prescription of micronized progesterone, magnesium orotate dehydrate, arginine glutamate to pregnant women with a cervical insufficiency is reasonable and effective one comparing with general and traditional therapy.

A family based triad study evaluating the role of MTHFR gene polymorphisms in spontaneous abortions

ObjectiveTo explore the combined association of MTHFR gene polymorphisms (C677T, A1298C) with spontaneous abortions in a triad group from Telangana State of South Indian population. MaterialsA total of 80 case families with spontaneous abortions and 100 control families with medically terminated pregnancies were considered. Fetal tissue with <20weeks of gestational age and peripheral blood from their respective parents were collected. MethodsDNA was isolated by phenol-chloroform method from both tissue and peripheral blood samples and then genotyped using Amplification Refractory Mutation System–Polymerase Chain Reaction followed by agarose gel electrophoresis. Genotype and allelic frequencies of MTHFR polymorphisms were determined by Odds Ratio with 95% Confidence Intervals and level of significance was considered at p value<0.05. The mRNA secondary structures were predicted and the transcription factor binding sites were determined. ResultsStatistically significant association was observed with 677C/T polymorphism in case fetal (p=0.006), maternal (p<0.001) and paternal (p=0.03) groups compared to their respective control groups. A significant difference in the genotypic distribution of 1298 A/C polymorphism was observed only in the maternal group (p=0.005) compared to controls. The combined frequencies of 677TT/1298AC genotypes revealed a significant association with an increased risk in all the case triad groups compared to their respective controls. The in silico analysis revealed the structural change and transcription factor binding site deviations in the variant allele compared to wild type allele in the mRNA regulation of MTHFR protein. ConclusionThe present study supports the major role of MTHFR gene polymorphisms in the etiology of spontaneous abortions.

Spontaneous miscarriage in first trimester pregnancy is associated with altered urinary metabolite profile

Threatened miscarriage is the most common gynecological emergency, occurring in about 20% of pregnant women. Approximately one in four of these patients go on to have spontaneous miscarriage and the etiology of miscarriage still remains elusive. In a bid to identify possible biomarkers and novel treatment targets, many studies have been undertaken to elucidate the pathways that lead to a miscarriage. Luteal phase deficiency has been shown to contribute to miscarriages, and the measurement of serum progesterone as a prognostic marker and the prescription of progesterone supplementation has been proposed as possible diagnostic and treatment methods. However, luteal phase deficiency only accounts for 35% of miscarriages. In order to understand the other causes of spontaneous miscarriage and possible novel urine biomarkers for miscarriage, we looked at the changes in urinary metabolites in women with threatened miscarriage. To this end, we performed a case-control study of eighty patients who presented with threatened miscarriage between 6 and 10weeks gestation. Urine metabolomics analyses of forty patients with spontaneous miscarriages and forty patients with ongoing pregnancies at 16weeks gestation point to an impaired placental mitochondrial β-oxidation of fatty acids as the possible cause of spontaneous miscarriage. This study also highlighted the potential of urine metabolites as a non-invasive screening tool for the risk stratification of women presenting with threatened miscarriage.

Haplotype analysis of IL-10 gene polymorphism in couples with spontaneous abortions and aborted fetuses.

Spontaneous abortion is the loss of pregnancy during an early gestational period. Interleukin-10 is an anti-inflammatory cytokine which plays an important role in successful pregnancy outcome. The aim of the study is to elucidate an association of IL-10 gene promoter polymorphisms (-1082G/A, -819 C/T, -592C/A) in spontaneous abortions from Telangana state of South India. The present population-based retrospective case-control triad study includes a total of 80 case families with spontaneous abortions and 100 control families with medically terminated pregnancies. Peripheral blood from all the couples and fetal tissues of <20weeks of gestation were collected. Genotype analysis was carried out by a standard amplification refractory mutation system-polymerase chain reaction followed by agarose gel electrophoresis. The strength of the association between IL-10 gene promoter polymorphisms and spontaneous abortions were measured by odd ratios and their respective 95% confidence intervals. Haplotype analysis was carried out for the three polymorphisms to establish an association of specific haplotypes with spontaneous abortions. The increased frequency of AA genotype and A allele of -1082G/A, TT genotype and T allele of -819C/T, and AA genotype and A allele of -592C/A was observed in case fetuses and case mothers compared to their respective controls. Haplotype analysis revealed that A-C-A, G-C-A haplotypes in fetuses and haplotypes A-C-C, G-T-C, A-T-A, and G-C-A in mothers were associated with increased risk of spontaneous abortions. IL-10 gene promoter polymorphisms may act as a major genetic regulator in the etiology of spontaneous abortions with maternal genome imprinting effects.

Association between Maternal Dietary Inflammatory Index (DII) and abortion in Iranian women and validation of DII with serum concentration of inflammatory factors: case-control study.

Previous studies have shown that some dietary components may be implicated in the etiology of spontaneous abortion. However, the possible relationship between diet-related inflammation and the risk of abortion has not yet been investigated. We examined the ability of the literature-derived Dietary Inflammatory Index (DII) to predict the abortion incidence in women suffering from recurrent abortion in a case-control study conducted from April 2010 to March 2011. This included 67 incident cases and 68 controls (frequency matched to cases by age) who attended infertility and miscarriage specialized centers in Tehran, Iran. The DII was computed based on dietary intake assessed using a validated and reproducible 168 item food-frequency questionnaire. Logistic regression models were used to estimate multivariable ORs adjusted for age, education, occupation, and body mass index. Subjects with higher DII scores (i.e., a more pro-inflammatory diet) had higher odds of abortion, with the DII being used as a continuous variable (ORcontinuous = 2.12, 95% CI: 1.02-4.43). When analysis was carried out with DII expressed as a dichotomous variable, women in the pro-inflammatory diet group (DII > 1.24) were at 2.12 times higher odds of having abortion compared with women in the referent group (DII ≤ 1.24) (ORDII>1.24/≤1.24 = 2.12; 95% CI: 1.02-4.43). In the same study, for every 1-unit increase in DII, there was a corresponding increase in interleukin-6 by 0.15 pg/mL, 95% CI (<0.01, 0.28). In conclusion, subjects who consumed a more pro-inflammatory diet were at increased odds of abortion compared with those who consumed a more anti-inflammatory diet.

Salt and miscarriage: Is there a link?

Salt is a major mineral element that plays fundamental roles in health and disease. Excessive salt intake is a major cause of hypertension, cardiovascular disease and stroke. Miscarriage and preeclampsia are the most common pregnancy complications with multiple etiological factors, including inflammatory and autoimmune conditions. More recently, different studies indicated that excessive salt intake is involved in the development of inflammatory processes through induction of T helper-17 pathway and their inflammatory cytokines. On the other hand, several studies indicated the pivotal role of inflammation in the etiology of miscarriage, preeclampsia and adverse pregnancy outcome. Here, it is hypothesized that excessive salt intake around the time of conception or during pregnancy can trigger inflammatory processes, which consequently associated with increased risk of miscarriage, preeclampsia or adverse pregnancy outcome. Thus, this hypothesis suggests that low salt intake around the time of conception or during pregnancy can decrease the risk of miscarriage or adverse pregnancy outcome. This hypothesis also offers new insights about the role of salt in the etiology of miscarriage and preeclampsia.

Risk factors for spontaneous abortion in women with recurrent pregnancy loss in history

The etiology of spontaneous abortion is varied and determined by many factors. Occupational, nutritional and social factors, artificial abortion, smoking and drinking alcohol during pregnancy and no preconception care are risk factors for spontaneous abortion in women with recurrent pregnancy loss in history. Therefore, identification of risk factors, comprehensive examination and correction of revealed violations should be done early before planned pregnancy.

Association of interleukin-10 gene promoter polymorphism in spontaneous abortions: a family-based triad study.

The present study is a triad study designed to determine the co-relation of IL-10 -819C/T promoter polymorphism with the risk of spontaneous abortions. A total of 50 families with spontaneous abortions and 60 families with medically terminated pregnancies were considered for the present study. Fetal tissue of less than 20 weeks of gestation along with peripheral blood from all the couples was collected in this study. A standard amplification refractory mutation system-polymerase chain reaction was carried out to determine the IL 10 genotype in all the subjects. Odd's ratio and their respective 95% confidence intervals were used to determine the strength of association between IL-10 promoter gene polymorphism and spontaneous abortions. The study revealed a statistically significant association of IL-10 -819C/T polymorphism between the two family groups among fetuses (p=0.0000003) and mothers (p=0.0000001). No significant difference was observed in the genotype distribution of IL-10 among fathers. An increased frequency of TT genotype and T allele was observed in spontaneously aborted fetuses and their mothers compared to respective controls. In conclusion, IL-10 C -819T gene promoter polymorphism may act as a major genetic regulator in the etiology of spontaneous abortions.