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The clustered homeobox gene family known as the Hox family plays a fundamental role in the morphogenesis of the vertebrate's embryo. A long noncoding RNA (lncRNA), known as HOTTIP (HOXA transcript at the distal tip), has been functionally characterized and contributed to the pathogenesis of various conditions. The current case–control study was undertaken to examine the gene frequencies and shared alleles of the HOTTIP gene in Iranian participants with or without idiopathic recurrent spontaneous abortion (RSA). Both ARMS-PCR reaction and RFLP-PCR techniques were employed to detect three HOTTIP polymorphisms (rs2023843C/T, rs78248039A/T, and rs1859168C/A) in a DNA sample of 161 women with RSA and 177 healthy women. We found that the TT genotype of the HOTTIP rs2023843 C/T polymorphism was associated with a lower risk for idiopathic RSA. In contrast, the TT genotype of the HOTTIP rs78248039 A/T polymorphism was correlated with an enhanced risk of RSA. The presence of the A-allele for HOTTIP rs1859168 C/A polymorphism was associated with an increased risk for idiopathic RSA. Haplotype analysis showed that the T/T/A, C/T/A, T/T/C, and T/A/A haplotypes of rs2023843/rs78248039/rs1859168 enhanced RSA susceptibility. Computational analysis predicted that this lncRNA might act as a potential sponge for some microRNAs; therefore, affecting the expression of genes being targeted by them. In addition, both rs2023843 and rs1859168 variants could alter the local secondary structure of HOTTIP. Our results showed that HOTTIP rs2023843C/T, rs78248039A/T, and rs1859168C/A polymorphisms may confer genetic susceptibility to idiopathic RSA in an Iranian population. [ABSTRACT FROM AUTHOR]

Background: Laparoscopic appendectomy (LA) is the standard treatment for acute appendicitis (AA) in general population. However, the safety of LA during pregnancy has remained a matter of debate. The purpose of this study was to compare surgical and obstetrical outcomes in pregnant women who underwent LA vs. open appendectomy (OA) for AA. We hypothesized that LA results in improved surgical and obstetric outcomes during pregnancy. Methods: Using a nationwide claim-based database in Estonia, a retrospective review of all cases of pregnant women undergoing OA or LA for AA from 2010 to 2020 was performed. Patient characteristics, surgical and obstetrical outcomes were analyzed. Primary outcomes were preterm delivery, fetal loss and perinatal mortality. Secondary outcomes included operative time, hospital length of stay (HLOS) and 30-day postoperative complications. Results: Overall, 102 patients were included of whom 68 (67%) underwent OA and 34 patients (33%) LA, respectively. Patients in LA cohort had a significantly shorter length of pregnancy in terms of gestational weeks when compared to OA cohort (12 weeks versus 17 weeks, p = 0.002). Most of the patients in their 3rd trimester pregnancy were subjected to OA. Operative time in LA cohort was shorter than in OA cohort (34 min. versus 44 min., p = 0.038). HLOS in LA cohort was shorter than in OA cohort (2.1 days versus 2.9 days, p = 0.016). There were no differences between OA and LA cohorts in terms of surgical complications or obstetrical outcomes. Conclusions: Laparoscopic appendectomy for acute appendicitis was associated with a significantly shorter operative time and a shorter hospital length of stay while open and laparoscopic appendectomy cohorts experienced comparable obstetrical outcomes. Our findings support the laparoscopic approach for acute appendicitis in pregnancy. [ABSTRACT FROM AUTHOR]

Introduction: Even though acute appendicitis is the most common general surgical condition encountered during pregnancy, the preferred approach to appendectomy in pregnant patients remains controversial. Current guidelines support laparoscopic appendectomy as the treatment of choice for pregnant women with appendicitis, regardless of trimester. However, recent published data suggests that the laparoscopic approach contributes to higher rates of fetal demise. Our study aims to compare laparoscopic and open appendectomy in pregnancy at a statewide population level. Methods: ICD-9 codes were used to extract 1006 pregnant patients undergoing appendectomy between 2005 and 2014 from the NY Statewide Planning and Research Cooperative System (SPARCS) database. Surgical outcomes (any complications, 30-day readmission rate, length of stay (LOS)) and obstetrical outcomes (antepartum hemorrhage, preterm delivery, cesarean section, sepsis, chorioamnionitis) were compared between open and laparoscopic appendectomy. Multivariable generalized linear regression models were used to compare different outcomes between two surgical approaches after adjusting for possible confounders. Results: The laparoscopic cohort (n = 547, 54.4%) had significantly shorter LOS than the open group (median ± IQR: 2.00 ± 2.00 days versus 3.00 ± 2.00 days, p value < 0.0001, ratio = 0.789, 95% CI 0.727–0.856). Patients with complicated appendicitis had longer LOS than those with simple appendicitis (p value < 0.0001, ratio = 1.660, 95% CI 1.501–1.835). Obstetrical outcomes (p value = 0.097, OR 1.254, 95% CI 0.961–1.638), 30-day non-delivery readmission (p value = 0.762, OR 1.117, 95% CI 0.538–2.319), and any complications (p value = 0.753, OR 0.924, 95% CI 0.564–1.517) were not statistically significant between the laparoscopic versus open appendectomy groups. Three cases of fetal demise occurred, all within the laparoscopic appendectomy group. Conclusions: The laparoscopic approach resulted in a shorter LOS. Although fetal demise only occurred in the laparoscopic group, these results were not significant (p value = 0.255). Our large population-based study further supports current guidelines that laparoscopic appendectomy may offer benefits over open surgery for pregnant patients in any trimester due to reduced time in the hospital and fetal and maternal outcomes comparable to open appendectomy. [ABSTRACT FROM AUTHOR]

High reproductive performance is an element factor for profitability in dairy herds; although, pregnancy loss of non-infectious nature during early and mid-to-late embryonic period is increasing in dairy cattle. Based on that, the present study aimed to determine the incidence of pregnancy loss before and after 60 days of insemination, and to identify some non-infectious causes that could enhance it. The herd was composed by 600 crossbred dairy cows and those with a corpus luteum (CL) were treated with prostaglandinF2α, then inseminated, on the other hand, those without a CL were submitted to a timed artificial insemination protocol (TAI). Pregnancy losses rates were analyzed by logistic regression by SAS, and differences were considered significant when P < 0.05. The overall pregnancy loss and mid-to-late pregnancy loss were not affected by animal category (P > 0.05); although, early pregnancy loss was higher in cows than in heifers (11.90 vs. 3.39%). The early pregnancy loss was higher in those cows that calved on spring/summer when compared to those calved on fall/winter (9.22% vs. 16.11%), moreover, those inseminated during spring/summer tended to have higher early pregnancy loss when compared to those inseminated on fall/winter (13.35% vs. 8.57%). In conclusion, when some of non-infectious causes were evaluated, it was observed that cows that calved on spring/summer had higher pregnancy loss. At this point, strategies should be developing to minimize pregnancy loss in dairy herds, as it could be considered an important reproductive problem. [ABSTRACT FROM AUTHOR]

To investigate the effects of antiphospholipid antibodies on establishment of pregnancy and changes in hormones such as estradiol-17ß (E) and progesterone (P) levels in circulation. Hence, mice were immunized with human β2-Glycoprotein I (β2GPI) and the effect of these antibodies on fetuses weight, placental obsrvation, Serum levels of P and E in pregnant mice, hematological were observed. Immunization of mice with human β-GPI resulted in elevated levels of antiphospholipid antibodies. The experimentally induced antiphospholipid syndrome mouse showed higher rate of fetal resorption, low number of viable fetuses, and 'placental abnormalities'. In these animals, serum E and P levels were reduced significantly. In addition, the blood cell variation among APS induced and control mice were determined. No significant variations were observed in number of Red Blood Cell count, White Blood Cell count and Hemoglobin content, while platelet number was significantly reduced as compared to control. These results clearly demonstrate that human β-GPI might be involved in causing gestational failure in APS by exerting their effect on serum hormones. [ABSTRACT FROM AUTHOR]

Data regarding outcome and therapy of pregnancies in patients with homozygous antithrombin (AT) deficiency are very rare. We conducted a retrospective, descriptive investigation with emphasis on the obstetric history of eight women with homozygous AT deficiency heparin-binding site (HBS), who had at least one pregnancy. The aim of the study was to get a better insight into the outcome and identify suitable management procedures of pregnancy in this rare disease. All patients suffered from homozygous AT deficiency caused by the mutation c.391C>T p.Leu131Phe in the AT gene (SERPINC1). The women reported in total 23 pregnancies; one pregnancy was excluded because of induced abortion. We found that only seven out of the 22 analyzed pregnancies ended with a live infant, all of them were born preterm. Among the 15 negative outcomes, seven were early pregnancy losses and eight were intrauterine fetal deaths. We found no clear association between treatment protocols and outcome. Eight pregnancies were not treated at all; all of them ended with pregnancy loss. We conclude that homozygous AT deficiency HBS, a form of severe thrombophilia, is associated with high risk of pregnancy loss and preterm delivery. Rigorous anticoagulation and/or replacement of AT during pregnancy may improve the outcome. [ABSTRACT FROM AUTHOR]

Recent findings suggest that there may be a maternal immune response underpinning the etiology of sexual orientation of gay male only-children. This maternal immune response appears to be distinct from that which is purported to explain the classic fraternal birth order effect found in studies of male sexual orientation. We tested two predictions related to the hypothesized maternal immune response in mothers of gay male only-children: (1) elevated fetal loss among mothers who have had gay male only-children and (2) lower birth weight in gay male only-children. Mothers of at least one gay son (n = 54) and mothers of heterosexual son(s) (n = 72) self-reported their pregnancy histories, including the birth weights of newborns and number of fetal losses (e.g., miscarriages). Mothers of gay male only-children (n = 8) reported significantly greater fetal loss compared with mothers of males with four other sibship compositions (gay with no older brothers, gay with older brothers, heterosexual only-children, heterosexual with siblings) (n = 118). Also, firstborn gay male only-children (n = 4) had a significantly lower birth weight than firstborn children in the four other sibship compositions (n = 59). Duration of pregnancy was not significantly different among the groups of firstborn children in the birth weight analyses. Thus, this study found further support for a distinct pattern of maternal immune response implicated in the etiology of male sexual orientation. Mechanisms that may underlie this potential second type of maternal immune response are discussed. [ABSTRACT FROM AUTHOR]

Chemokines play a significant role in pregnancy, especially during embryonic attachment and placental development. During early pregnancy, immune cells are recruited extensively to the endometrium in several species including pigs. However, this recruitment is solely mediated by the presence of the conceptus in pigs making it a unique feature compared with other species (humans, primates and mice). To understand the biological significance of chemokine expression and immune cell recruitment in the context of fetal loss, we investigate a well-characterized porcine fetal loss model during the window of early pregnancy at gestational day (gd) 20 and mid-pregnancy (gd50). These periods coincide with 25-40 % of conceptus loss. Using targeted quantitative polymerase chain reaction and Western blot approaches, we screened a specific set of chemokines. Comparisons were made with endometrial lymphocytes (ENDO LY), endometrium and chorioallantoic membranes (CAM) associated with spontaneously arresting and healthy conceptus attachment sites (CAS). mRNA expression studies revealed an increased expression of CXCR3 and CCR5 in ENDO LY and of CXCL10, CXCR3, CCL5 and CCR5 in the endometrium associated with arresting CAS at gd20. DARC was decreased in the endometrium at gd50. CCL1 was increased in CAM associated with arresting CAS at gd50. Some of these differences were also noted at the protein level (CXCL10, CXCR3, CCL5 and CCR5) in the endometrium and CAM. CD45+ immunohistochemistry demonstrated a significantly higher localization in ENDO LY in the endometrium associated with healthy versus arresting counterparts. Most of these differences were observed in early pregnancy and might contribute towards a shift in immune cell functions. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the potential involvement of fertility treatments and other conditions of becoming pregnant (infertility, getting pregnant on birth control, maternal history of fetal loss) and folic acid supplements in the etiology of childhood leukemia (CL). Methods: The ESTELLE study included 747 cases of CL [636 cases of acute lymphoblastic leukemia (ALL) and 100 of acute myeloblastic leukemia (AML)] diagnosed in France in 2010-2011 and 1,421 population controls frequency-matched with the cases on age and gender. Data were obtained from structured telephone questionnaires administered to mothers. The odds ratios (OR) and their 95 % confidence intervals were estimated using unconditional regression models adjusted for potential confounders. Results: CL was not associated with difficulty in becoming pregnant [OR 0.9 (0.7-1.2)], in vitro fertilisation [OR 0.6 (0.3-1.5)] or the use of any fertility treatment [OR 0.8 (0.5-1.1)] for the index pregnancy. CL was not significantly associated with becoming pregnant on contraception [OR 1.2 (0.8-1.8)], but a positive association was observed for third generation oral contraception [OR 4.3 (1.2-16.2)]; however, the result is based on small numbers. Folic acid supplementation during pregnancy was not associated with CL, but an inverse borderline association was observed for supplementation initiated in the 3 months preceding pregnancy [OR 0.7 (0.5-1.0)]. In addition, maternal histories of stillbirth and miscarriage were associated with ALL [OR 2.6 (1.1-5.9)] and AML [OR 1.8 (1.1-2.8)], respectively. Conclusions: The findings do not suggest that infertility and fertility treatments are risk factors for CL. They suggest that maternal histories of stillbirth and miscarriage may be more frequent among mothers of CL cases and that folic acid supplementation during preconception may reduce the risk of CL. [ABSTRACT FROM AUTHOR]

Objective: To examine the associations between the ambient air pollution and early fetal loss. Study design: A retrospective case-control study was conducted. 959 fetal losses and 959 normal intrauterine pregnancies within 14 weeks of pregnancy in 15 general or obstetrics and gynecology hospitals were selected into case and control groups, respectively. Data based on hospital records and national pollution monitor station records were collected. Logistic regression model was conducted to examine the associations between 4 ambient air pollutants (SO, PM, NO and TSP) exposures and fetal loss. Results: The ratio of fetal loss to termination of pregnancy for heating months (2.28 %) was significantly ( P < 0.001) higher than that for the non-heating months (1.77 %). Logistic regression suggested that fetal loss within 14 weeks was associated with higher exposure to SO (OR = 19.76, 95 % CI 2.34-166.71) and TSP (OR = 2.04, 95 % CI 1.01-4.13) in the first month of pregnancy. Conclusion: Exposure to high levels of SO and TSP during the first month of pregnancy was associated with an increased risk of fetal loss in early pregnancy. [ABSTRACT FROM AUTHOR]

Recurrent early miscarriages (excluding chromosomal anomalies), late fetal loss, and maternal thrombosis are characteristic of obstetric antiphospholipid syndrome (APS). Obstetric complications such as preeclampsia, fetal growth restriction, premature delivery, and fetal death also occur in higher frequency in APS patients than in the general population. A high-risk obstetric center is needed for proper evaluation of and intervention with pregnant women with APS. Association with lupus carries additional risk of thrombosis when antiphospholipid antibodies (aPLs) are present. Gestational results with live births are improved to about 80% when antithrombotic therapy is used, but failure in 20% to 30% of the cases despite correct treatment with low-dose aspirin with or without heparin reveals new pathways for pregnancy loss in APS and unmet needs. At the moment, there is no recommendation to investigate patients with infertility for the presence of aPLs. [ABSTRACT FROM AUTHOR]

Objective: Acute pancreatitis during pregnancy is a rare and dangerous disease. This study attempts to present a comprehensive analysis of severe acute pancreatitis (SAP) during pregnancy and to identify the factors associated with poor outcomes.Methods: This study was a retrospective review of the medical records of SAP patients during pregnancy consecutively admitted into the Research Institute of General Surgery from 1999 to 2010.Results: Information was collected on presentation, management, and outcome. Eighteen patients were identified to have been diagnosed with SAP during pregnancy. Eleven patients (61.1%) were nulliparous; most attacks (88.9%) occurred during the third trimester. There were seven cases with preterm labor, six with fetal losses, and no maternal death. The etiology was biliary disease in seven patients (38.9%), hypertriglyceridemia in five patients (27.8%), both biliary and hypertriglyceridemia in four patients (22.2%), and idiopathic in two patients (11.1%). Patients with failure in more than one (≥2) organ were more likely to result in fetal loss (OR = 25, P = 0.016).Conclusions: SAP during pregnancy is predominantly biliary in etiology, but a significant proportion is caused by hypertriglyceridemia. Patients with failure in at least two organs result in relatively worse fetal outcomes. [ABSTRACT FROM AUTHOR]

Purpose: To assess the long Y chromosome genetic effect on human pregnancy outcomes. Methods: We studied all records of pregnancies by human sperm donors after artificial insemination or in vitro fertilization at the Reproductive and Genetic Hospital of Citic-Xiangya. Fetal losses were compared from two groups of sperm donors: the observation group (with long Y chromosome) and the control group (without long Y chromosome). Results: 2885 pregnancies were achieved with donor sperm by artificial insemination and 1746 by in vitro fertilization. The rates of fetal loss, congenital malformation and donor fecundity in the observation group after both assisted reproductive technique were the same as for the control group. Conclusions: A long Y chromosome may therefore be considered as a normal variant. [ABSTRACT FROM AUTHOR]

This review summarizes current knowledge about the role of hereditary hypercoagulation factors predisposing to thrombophilia-associated recurrent fetal loss. Thrombophilias are a major cause of adverse pregnancy outcome, playing a role in the etiology of up to 40% of cases worldwide. Hereditary thrombophilic predispositions to recurrent pregnancy wastage include genetic lesions in blood coagulation factors II and V as well as natural anticoagulants antithrombin, protein C, and protein S. Furthermore, methylenetetrahydrofolate reductase gene variants conferring higher thrombophilia risk in combination with these mutations and the newly described annexin A5 gene M2 promoter allele are associated with repeated fetal loss. The review gives a concise description of the molecular defects arising from the genetic changes, of the role these factors play in the timing and definition of fetal loss, and risk estimates from available studies and meta-analysis. This knowledge is instrumental for a more precise assessment of individual risks for repeated fetal loss and should guide therapeutic strategies, where relevant. Since the average childbearing age increases in Western societies, the importance of a timely diagnosis of fetal loss predisposition is increasing. [ABSTRACT FROM AUTHOR]

Many “old wives’ tales” suggest that women can contribute to adverse outcomes through their behaviors and thoughts. Women attending a Midwestern American clinic were surveyed to determine how common such beliefs are. Two hundred women rated their agreement with a set of nine such beliefs. Women with a personal history of an adverse event had beliefs similar to those without such a history. The data suggest that such beliefs do not influence a woman’s experience of pregnancy loss or birth defect. [ABSTRACT FROM AUTHOR]

Despite motor vehicle crashes being the leading cause of traumatic fetal morbidity, only a few researches have tried to study the automobile crashes on pregnant women. The possible negative effect of the restraint systems and the injuries mechanisms involved in car crashes with pregnant women are therefore still poorly understood. In this context, the aim of this study is to develop a numerical model of the whole human body with a gravid uterus, in order to investigate car crash scenarios and to evaluate alternative security systems to improve protection of both the woman and the fetus. A 3D reconstruction based on a set of MRI images led us to a good spatial representation of the pregnant woman in driving position. The anatomical precision will make progress possible in the field of traumatology of the pregnant woman. [ABSTRACT FROM AUTHOR]

Protein Z (PZ) is a vitamin K–dependent plasma protein that serves as a cofactor for the inactivation of factor Xa. A number of investigators found low PZ levels in patients with haemorrhagic as well as thromboembolic diseases, although there is no clear evidence of a pathogenic link between PZ deficiency and these clinical disorders. Nevertheless, low PZ levels have been found in association with early fetal losses, especially those occurring before the 15th week of gestation and in patients with detectable antiphospholipid and anti–PZ antibodies. The current diagnostic relevance and therapeutic consequences of these parameters will be discussed. [ABSTRACT FROM AUTHOR]

Complement has an important role in innate immunity and inflammation. Complement also has the capacity to attack self tissues. Cells are protected from the deleterious effects of complement. The Crry protein belongs to a family of molecules that regulates complement activation, protecting tissues from complement-mediated damage. To investigate the role of these molecules in vivo, Crry −/− mice were generated. Crry −/− mice did not survive pregnancy owing to abnormal complement deposition in the placenta through the alternative pathway. Tissue damage related to C5 (production of C5a and C5b-9) was not required. Removal of inflammatory cells did not affect the phenotype. This suggests new noninflammatory mechanisms of pregnancy failure that are dependent solely on C3. The major abnormality was a failure of blood vessel formation in the placenta, revealing an unsuspected C3 effect in the vascular development of this organ. [ABSTRACT FROM AUTHOR]

The maternal and fetal outcomes of 55 pregnancies in 24 patients with pre-existing lupus nephritis (LN) were retrospectively analysed. The risk factors for poor fetal outcome were evaluated. The patients were divided into two groups. Patients in Group A had quiescent LN and those in Group B showed clinical evidence of active LN at conception. Results: In Group A, of the 36 pregnancies in 16 patients, 11 resulted in term deliveries without complications, 9 in spontaneous abortions, 6 in pre term deliveries, 3 in intrauterine growth retardation (IUGR) and in 2 stillbirths. In Group B, of the 19 pregnancies in 8 patients, there were 6 spontaneous abortions, 3 uncomplicated term deliveries and 10 pregnancies were complicated by hypertension. Gross IUGR occurred in 3 pregnancies. There were 3 stillbirths and 1 neonatal death in the study. Total fetal loss was 38.2% and the perinatal mortality (PNM) rate, 150/1,000 deliveries. Two mothers, both from Group B died in the series, 1 from multi system failure of systemic lupus erythematosus, 3 days after delivery and the second died from irreversible renal failure 2 months after caesarean section. Conclusions: Pregnant women with long-standing LN are at high risk of spontaneous abortions and increased PNM. However, the outlook of pregnancy in patients with stable LN at conception is relatively favourable. The risk of obstetric complications and maternal mortality is high in patients with active lupus nephropathy associated with pre-existing hypertension. Pregnant women with LN require intense fetal and maternal surveillance for the best outcomes of pregnancy. [ABSTRACT FROM AUTHOR]

Objective : To evaluate the association between maternal reproductive history and preterm delivery. Methods : The 312 preterm delivery cases, studied in aggregate, and in subgroups (spontaneous preterm labor, preterm premature rupture of membranes, medically induced preterm delivery, moderate preterm delivery [gestational age at delivery 34–36 weeks], and very preterm delivery [gestational age at delivery <34 weeks]), were compared with 424 randomly selected women who delivered at term. Maternal medical records provided information on maternal reproductive history, pregnancy outcome, as well as sociodemographic characteristics. Using multivariate logistic regression, we derived maximum likelihood estimates of adjusted odds ratios (OR) and 95% confidence intervals (CI). Results : A history of 2+ miscarriages was ( OR = 2.2; 95% CI 1.2–3.9), but a history of 2+ prior induced abortions (OR = 1.2;; 95% CI 0.7–2.0) was not, associated with preterm delivery in the index pregnancy. Analyses of preterm delivery subgroups indicated that a history of 2+ miscarriages was associated with an increasedrisk of spontaneous preterm labor (OR = 2.6;; 95% CI 1.2–2.8), preterm premature rupture of membrane (OR = 1.8;; 95% 0.7–4.4), and medically induced preterm delivery (OR = 1.9;; 95% CI 0.8–4.2), though only the former approached statistical significance. Excess risk of preterm delivery was associated with maternal prior history of delivering a stillborn infant (OR = 10.7), a prior history of delivering a newborn that later died during the neonatal period (OR = 3.2), and a prior history of having a pregnancy complicated by spontaneous preterm delivery (OR = 6.0). Generally these associations were evident for each subgroup of preterm delivery, though inferences were often hindered by our relatively small sample size. Conclusions : These results support the hypothesis that maternal adverse reproductive history is associated with an increased risk of preterm labor and delivery. [ABSTRACT FROM AUTHOR]

During pregnancy there are hemostatic changes that result in a hypercoagulable state and can have thrombotic consequences. This condition can be aggravated in women who are carriers of congenital thrombophilic factors. This thrombotic tendency can manifest as thrombotic lesions in the placenta with compromise of utero-placental circulation, which are common characteristics present in obstetric complications, such as preeclampsia/eclampsia, miscarriage, fetal loss, intrauterine growth retardation, and abruptio placentae. In this paper we review data concerning about the association of congenital thrombophilia in pregnancy with obstetric complications, mainly preeclampsia and fetal loss, focusing in factor V Leiden and its related activated protein C resistance, prothrombin mutation G20210A and hyperhomocysteinemia related with C677T mutation of methylenetetrahydrofolate reductase. Although factor V Leiden has been the thrombophilic factor most studied, all three thrombophilic mutations have been related with obstetric complications; however, contradictory results about the specific association of each mutation with each type of obstetric complication are described. These discrepancies could obey to the ethnic difference of the studied groups, or to the fact that some studies were performed in closed populations with few migratory movement, where the genetic pool is relatively homogeneous, as well as the different inclusion and exclusion criteria. Even though this variability is present, the significance of recognizing true associations between these thrombophilic mutations and obstetric complications is essential in order to determine the likelihood of routinely screening for these conditions in pregnant women with risk factors for thrombosis and for carrying out specific prophylactic measures. [ABSTRACT FROM AUTHOR]

Advances in genetic technology challenge couples to make complex life and death decisions about their fetus that have far-reaching practical and emotional consequences. When genetic defects lead to fetal loss, whether by miscarriage, elective interruption, or still birth, it can be a devastating experience with ripple effects on couple and family development. This paper presents a systemic approach to coping and adaptation to fetal loss in the wake of genetic testing. Clinical vignettes illustrate common experiences and present interventions designed to help the individual grieving partners as well as the marriage. thereby strengthening the family fabric at a vulnerable transitional stage. [ABSTRACT FROM AUTHOR]

: The aim of the study was to analyse the gynaecologic history of 150 Brazilian patients with systemic sclerosis (SSc) by comparing the outcome of the pregnancies before and after disease onset and in the two clinical variants of SSc, as well as to assess the effects of the pregnancy on the progress of the disease. A retrospective analysis was carried out of 150 female SSc patients, more than 18 years old, who attended the outpatient clinic of the Unit of Rheumatology of the State University of Campinas. The patients were questioned about the number of pregnancies, deliveries (full-term infants, premature births and twins) and fetal deaths (spontaneous abortions and perinatal deaths). These data were subdivided into pregnancies before and after SSc onset. In those gestations started after disease onset the patients were questioned about the evolution of SSc during the pregnancy. The patients were also asked about dyspareunia and the age at menopause. Thirty-two patients (21%) had never been pregnant, and only five of them were considered infertile. One hundred and eighteen patients (79%) had a total of 406 pregnancies, with an average of 3.4 per patient; there were 364 pregnancies before and 42 after SSc onset. There were 58 fetal deaths (14% of the pregnancies), 50 of these occurring before and eight after disease onset; 55 were spontaneous abortions and the other three were perinatal deaths. The fertility rate was higher in the limited SSc (3.6) than in the diffuse SSc patients (3.1), although the percentage of fetal deaths and the evolution of SSc during the pregnancy were similar in the two clinical variants. In the pregnancies that occurred after the onset of SSc, the clinical course remained stable in 72% of the cases, worsened in 14% and improved in 14%. Dyspareunia was mentioned by 49 patients (37% of those with an active sexual life). Menopause was reported by 72 patients, predominantly with limited SSc (61 patients). The fertility rate in the postmenopausal SSc patients was 3.9, similar to that observed in general postmenopausal population in Brazil. The analysis of the gynaecologic history in this series of SSc patients showed no increased risk in infertility or spontaneous abortions. The fertility rate in the two SSc clinical variants was higher than that observed in the local global population. Most of the patients who became pregnant after the onset of SSc showed no signs of worsening during the course of the disease. [ABSTRACT FROM AUTHOR]

In recent years an association has been described between, on the one hand, an in vitro prolongation of phospholipid-dependent coagulation tests (the 'lupus anticoagulant') or the demonstration of antiphospholipid antibodies and, on the other, clinical events, particularly recurrent thrombosis (usually venous but sometimes arterial), thrombocytopenia, and also recurrent mid-term fetal loss. Other less well-documented associations with haemolytic anaemia, livedo reticularis, strokes and other neurological syndromes have been suggested. The antibodies are present temporarily in many infections, are usually of IgM isotype and thrombosis does not occur. However, they are persistently present and mainly of IgG isotype in a number of auto-immune disorders associated with thrombosis, in particular systemic lupus erythematosus, in which 50% of patients will show antibody of one isotype or another. The strongest association is with antinuclear factor-negative lupus and 'lupus-like' disorders in which a full diagnosis of classical lupus cannot be made. The clotting test abnormality and antiphospholipid antibodies may be found also in otherwise normal individuals suffering thrombosis or fetal loss - the so-called primary antiphospholipid syndrome. These data raise important questions for management, but many details are controversial despite a decade's work; this review examines the present position and outlines some of the difficulties, particularly from the point of view of nephrology and paediatrics. [ABSTRACT FROM AUTHOR]

The pregnancies of ten women, all with histories of at least two spontaneous abortions of unknown cause, were followed. All patients were positive for immunoglobulin (Ig) G anticardiolipin antibodies (aCL) and one also for IgM aCL, while none had lupus anticoagulant activity. During pregnancy, the patients were treated with calcium heparin in doses varying between 15,000 and 30,000 IU daily. IgG aCL were assayed on average at the 9th, 17th, 24th and 29th weeks of pregnancy and at the moment of delivery. Mean values of IgG aCL levels during the 10 pregnancies steadily fell as the pregnancies progressed, and this descrease was significant ( r=0.985, P=0.002). All pregnancies terminated favourably, although delivery was brought forward in eight patients and six of the nine placentas examined showed signs of thrombosic events. We assume that a steady fall in IgG aCL levels during pregnancy may be considered as indicative of a favourable outcome. [ABSTRACT FROM AUTHOR]

Fetal death is not commonly associated with cystic fibrosis (CF). We report a case of late intrauterine death attributed to cardiovascular failure and shock consequent to malrotation and intestinal volvulus in a fetus affected with CF. An argument is made that CF promoted this deleterious incident. Whole blood or cell-rich tissue specimens should be preserved and genetic testing for CF considered in stillbirths with intestinal complications.Journal of Perinatology (2007) 27, 181–182. doi:10.1038/sj.jp.7211652 [ABSTRACT FROM AUTHOR]