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(1) Background: Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing (NGS) is becoming a standard in medical care. There are insufficient genetic studies reported on breast cancer (BC) patients from Romania and most of them are focused only on BRCA 1/2 genes (Breast cancer 1/2). (2) Methods: NGS was performed in 255 consecutive cases of BC referred for management in our clinic between 2015–2019. (3) Results: From the 171 mutations identified, 85 were in the high-penetrance BC susceptibility genes category, 72 were pathogenic genes, and 13 genes were in the (variants of uncertain significance) VUS genes category. Almost half of the mutations were in the BRCA 1 gene. The most frequent BRCA1 variant was c.3607C>T (14 cases), followed by c.5266dupC (11 cases). Regarding BRCA-2 mutations we identified c.9371A>T (nine cases), followed by c.8755-1G>A in three cases, and we diagnosed VUS mutations in three cases. We also identified six pathogenic variants in the PALB2 gene and two pathogenic variants in (tumor protein P 53) TP53. (4) Conclusions: The majority of pathogenic mutations in the Romanian population with BC were in the BRCA 1/ 2 genes, followed by PALB2 (partner and localizer of BRCA2) and TP53, while in the CDH1 (cadherin 1) and STK11 (Serine/Threonine-Protein Kinase) genes we only identified VUS mutations.

This cross-sectional case–control study of post-partum women aimed to estimate whether maternal periodontitis was a predictive contributor to preterm birth and to identify other risk factors associated with preterm birth in our target population. The case group included women who delivered preterm (74 cases) and the control group included women who had a normal term delivery (120 controls). Medical records, a 16-item questionnaire, and a full-mouth periodontal examination were used to collect information about socio-demographic characteristics, general health problems, birth-related information, behavioral factors and periodontal status. Logistic regression analysis was used to estimate the strength of the relationship between predictors and the categorical outcome variable, preterm birth. The bivariate analysis revealed the significant associations between preterm birth and socio-demographic factors (educational level, p = 0.003), antepartum smoking habit (p = 0.001) and birth weight lower than 2500 g (p

Periodontal medicine is a broad term commonly used to define the relationship between periodontitis and systemic health. Periodontitis is a highly prevalent, chronic multifactorial infectious disease, induced by the dysbiotic biofilm that triggers a persistent systemic inflammation and recurrent bacteremia. There is a growing body of scientific evidence that suggests the potential implication of periodontitis in the causation and progression of various systemic disease and conditions, such as diabetes, cardiovascular disease, pulmonary disease, adverse pregnancy outcomes and cancer. Some studies consider periodontitis as an independent risk factor for preterm birth, growth restriction, low birth-weight and pre-eclampsia. However not all studies support the association. Despite sparse scientific data, some studies indicate that individuals with periodontitis are at increased risk for cancer development, due to the increased inflammatory burden sustained by the presence of periodontal pathogens. This chapter emphasis the relationship between periodontitis and adverse pregnancy outcomes and the underlying mechanisms that link peridontitis to oral carcinogenesis.

[This corrects the article DOI: 10.1371/journal.pone.0237510.].

Periodontitis is a highly prevalent condition leading to a continuous destruction of tooth-supporting tissues. It increases the risk for various systemic diseases and adverse pregnancy outcomes. Therefore, screening for periodontitis is important. Screening measures can range from self-reported symptoms to clinical full-mouth periodontal examination. The hypothesis of our study was that self-reported parameters and clinical definition perform equally well in identifying periodontitis patients. The aim of this study was to develop, validate its internal consistency, and evaluate a self-reported instrument against periodontal clinical evaluation for diagnosis of periodontitis in a group of postpartum women, as well as to describe their periodontal status and the risk factors associated with periodontal disease. A cross-sectional study on postpartum women was conducted in a tertiary university hospital, from April 2018 to March 2019. Sociodemographic and behavioral data, periodontal clinical parameters, and self-reported periodontal perception were collected. A 16-item questionnaire was developed to obtain information about perceived periodontal alterations and oral hygiene habits. The utility of the questionnaire was tested against a periodontal diagnosis based on a full-mouth periodontal examination. The questionnaire was applied in 215 postpartum women aged 29.16±5.54 years (mean age (y) ± standard deviation) having the following periodontal status: 16 individuals without periodontal disease (7.44%), 32 individuals with gingivitis (14.88%), 19 individuals with mild periodontitis (8.84%), 132 individuals with moderate periodontitis (61.39%), and 16 individuals with severe periodontitis (7.44%). A significant association was observed between oral hygiene score, smoking status, and periodontal conditions (p

Aim . Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing is becoming more common in medical care. We report our experience regarding deleterious mutations of high and moderate-risk breast cancer genes ( BRCA1/2, TP53, STK11, CDH1, PTEN, PALB2, CHEK2, ATM ), as well as more recently identified cancer genes, many of which have increased risk but less well-defined penetrance. Methods . Genetic testing was performed in 130 consecutive cases with breast cancer referred to our clinic for surgical evaluation and who met the 2016 National Comprehensive Cancer Network (NCCN) criteria for genetic testing. Results. 82 patients had pathogenic/likely pathogenic mutations and VUS mutations, and 48 were negative; 36 of the pathogenic mutations were in the high-risk genes and 16 were in the moderate risk genes and only 5 cases in the intermediary risk group. From the VUS mutation group 21 cases were in the intermediary risk group, 9 cases were in the moderate risk group and only 7 cases in high risk group. The most frequent BRCA1 variant was c.3607C>T (7 cases) followed by c.5266dupC and c.4035delA (each in 4 cases). Regarding BRCA-2 mutations we identified c.9371A>T and c.8755-1G>A in 6 cases and we diagnosed VUS mutations in 3 cases. Conclusion. Our study identified 2 mutations in the BRCA1 gene that are less common in the Romanian population, c.3607C>T and c.4035delA . Both variants had particular molecular phenotypes, c.3607C>T variant respecting the triple negative pattern of BRCA1 breast cancer while c.4035delA were Luminal B HER positive.

Introduction: Breast cancer is the most common cancer in women worldwide, and Romania makes no exception from this trend. Genetic screening for Hereditary Breast and Ovarian Cancer began to be used on a larger scale after the introduction of Next Generation Sequencing. The aim of this study was to assess the association of deleterious mutations responsible for breast cancer with histopathological and immunohistochemical prognostic factors and to identify some genetic variants in the BRCA1 and BRCA2 genes. Method: 80 patients with breast cancer and negative genetic test or pathogenic variants on BRCA1/2, TP53, PALB2, CHEK2, ATM genes were included. All the cases had a prior histological diagnosis and complete immunohistochemical features. The genetic testing was conducted through a multigene panel. Results: 65% of patients had a deleterious mutation on BRCA genes. In 97.5% of cases the histology was invasive ductal carcinoma. Significant differences were identified between BRCA1 group and negative mutation group regarding estrogen receptor (ER) (p=0.0051), progesterone receptor (PR) (p=0.0004) and Ki67 (p=0.001). Seven breast cancer patients had BRCA1 c.3607C>T variant, which was statistically significantly associated with triple- negative breast cancer (p A variant in 3 cases and the c.9371A>T variant in 3 cases. Discussion and conclusion: Our study confirmed the association of BRCA1 mutations with negative ER, PR or triple negative breast cancer (TNBC). Description of BRCA1 c.3607C>T mutation for the first time in Romanian population and its association with TNBC will need further investigation.

Breast cancer diagnosed during pregnancy is at increasing incidence due to the increased frequency of obesity, the postponement of the first pregnancy to later decades of life and the advances of diagnostic techniques. Clinical and imaging diagnosis is difficult during gestation due to adaptive changes of the maternal organism , the mammary glads in particular. Furthermore, the therapeutic approach is limited both by the possible side effects on the fetus and by the skepticism of the couple over these therapeutic regimens.The present paper aims to review the main diagnostic steps to confirm pregnancy associated breast cancer, as well as the therapeutic possibilities during this period, related to the potential adverse effects concerning pregnancy

To assess the influence of reproductive factors in the occurrence of breast cancer in women, taking into account the presence/absence of genetic predisposing mutations.100 patients with breast cancer were included. The genetic testing was conducted through a multigene panel. Reproductive characteristics were noted for all patients: age of menarche, age of the patient at first full term pregnancy, number of pregnancies, number of full-term pregnancies, breastfeeding interval, number of abortions, and menopausal status at the time of diagnosis. The patients were divided into three groups according to their mutations: BRCA1, positive for mutations other than BRCA1 and negative.The risk of breast cancer was not influenced by the number of abortions, parity, age at first pregnancy, age at menarche and menopausal status, or by oral contraceptive use in carriers of pathogenic mutations group in the BRCA1 group. The present study has demonstrated the protective effect of breastfeeding only in patients without genetic risk (p=0.0344). In contrast, breastfeeding did not influence breast cancer occurrence in BRCA1 mutation carriers' group (p=0.2321).Breastfeeding represents a protective mechanism only in patients without genetic breast cancer predisposing mutations. Environmental and reproductive factors can impact the risk and the age of onset of breast cancer in patients carrying pathogenic mutations, but the mechanisms of action are not fully understood.

OBJECTIVE The aim of this study was to establish the diagnostic accuracy of high-field magnetic resonance imaging (MRI) at 7 Tesla (T) compared with that of stereomicroscopic autopsy for assessing first trimester fetuses. METHODS Nine consecutive cases of first trimester fetuses resulting from spontaneous and therapeutic pregnancy termination were considered. The cases were divided into two groups according to gestational age: the Embryo Group with cases of nine to 10 gestational weeks (GWs) and the Fetus Group with cases of 13 GWs. The first group was scanned using three-dimensional fast imaging with steady state precession (3D FISP), and the second group was scanned using a two-dimensional (2D) turbo spin-echo high-resolution T2-weighted imaging (T2 WI) protocol. A radiologist and two embryologists interpreted the images. All cases were evaluated by invasive autopsy, with pathologist blinded to the imaging results. In total, the database included 270 items for evaluation (9 cases × 30 structures/case). RESULTS The global agreement between fetal high-field virtopsy and microscopic or stereomicroscopic autopsy was evaluated using 225 evaluation items visible by both methods. Overall, using microscopic examination and stereomicroscopic autopsy as the gold standard, fetal high-field virtopsy had a sensitivity of 94.6% [95% CI, 87.2-98.3] and a specificity of 97.6% [95% CI, 95-98.8]. The positive predictive value (PPV) was 93% [95% CI, 85.7-96.6], and the negative predictive value (NPV) was 98.2% [95% CI, 95.7-99.4]. Cohen kappa coefficient of agreement was k = 0.92 [95% CI, 0.82-0.97], and the McNemar test showed p = 1.00. CONCLUSIONS Virtual autopsy using high-field MRI at 7 T can be considered a safe alternative approach to stereomicroscopic autopsy for the assessment of fetal structural anomalies at the end of the first trimester of pregnancy.

Changes in the renin-angiotensin-aldosterone system's (RAAS) activity due to different genetic variations could represent risk factors for the onset of preeclampsia.To test and quantify the relationships of 8 RAAS gene polymorphisms (angiotensinogen (AGT)-M235T, AGT-T174M, angiotensin converting enzyme (ACE)-I/D, ACE8-A2350G, angiotensin II type 1 receptor (AGTR1)-A1166C, angiotensin II type 2 receptor (AGTR2)-C3123A, renin (REN)-G83A, aldosterone synthase (CYP11B2)-T344C) with susceptibility to early- (EOPE) and late-onset preeclampsia (LOPE).We performed polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) analysis in 217 pregnant women, of whom 87 pregnant women with EOPE/LOPE and 130 normal pregnant women. The relationship between the studied RASS gene polymorphisms and EOPE/LOPE was tested by multiple logistic regressions.The multivariate logistic regression analysis showed that AGT-M235T (adjusted OR = 4.63), AGT-T174M (adjusted OR = 4.13), REN-G83A (adjusted OR = 3) and CYP11B2-C344T (adjusted OR = 3.13) gene polymorphisms remained independent risk factors for EOPE. Moreover, ACE-I/D (adjusted OR = 4.04), ACE-A2350G (adjusted OR = 3.5), AGTR1-A1166C (adjusted OR = 2.73), and REN-G83A (adjusted OR = 2.67) polymorphisms remained independent risk factors for LOPE. The frequency of overweight was significantly different (p = 0.001) in pregnant women with EOPE, LOPE and the control group (LOPE:16, 29.6% vs. EOPE:12, 36.4% vs. control group:16, 12.3%). Pregnant women with EOPE had babies with a significantly lower mean birth weight (2067.9 ± 887.9) in comparison to women with LOPE (mean ± SD: 2860.1 ± 771.1, p 0.001) and women with normal pregnancies, respectively (mean ± SD: 3324.9 ± 484.9, p 0.001).We confirmed the influence of the renin-angiotensin-aldosterone system through these 8 genetic variations on the onset of preeclampsia.

Introduction Maternal smoking is one of the most modifiable factors with clear adverse effects for the fetus and the entire family. This study culturally adapted, enhanced, and is currently testing in a randomized controlled trial (RCT) the efficacy of an evidence-based pregnancy and postnatal couple intervention for smoking cessation. Methods Quit Together is an ongoing partnership between US and Romanian research institutions, obstetrics and gynecology clinics in Cluj-Napoca, Romania, and SAMAS, a non-profit organization providing information and support to parents and parents-to-be in Romania. The study builds on the Motivation and Problem Solving (MAPS) approach, a novel strategy successful in preventing smoking relapse postpartum in the US, enhanced by targeting the couples’ smoking behavior and focusing on dyadic efficacy for smoking cessation. The smoking prevention randomized controlled trial intervention begins during pregnancy, includes a postpartum component, and targets pregnant smokers and their partners. The primary outcome is maternal smoking cessation. Results During the intervention formative phase, 15 interviews were conducted with pregnant smokers and ex-smokers and revealed a wide range of partner involvement and support with quitting, ranging from not at all involved to extremely supporting partner. In addition, 155 pregnant smokers (74) and ex-smokers (81) completed a questionnaire detailing their pregnancy history, social support, tobacco smoking, motivation, importance, and confidence related to quitting, emotional health, details about the relationship with the partner, partner smoking status, and partner and couple behaviors related to the pregnancy smoking. The RCT is actively enrolling participants since 2017. Conclusions Quit Together has a large potential for dissemination and adoption into smoking cessation programs that include a quitline. We anticipate strong potential for the future adoption of proactive counseling for couples referred by prenatal health providers, as an extension of the existing quitline in the Romanian universal public health system. Funding Research reported in this publication was supported by the Fogarty International Center and the NIH under Award Number K01 TW009654. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Tobacco smoking remains the leading global cause of preventable disease and death. Preconception and pregnancy smoking are high in Central and Eastern Europe. Quit Together is a partnership between a US university and a Romanian university, obstetrics and gynecology clinics in Romania, and other community partners in Romania. The objective of the Quit Together pilot study is to adapt, enhance and test the implementation feasibility and initial efficacy of an evidence-based pregnancy and postnatal couple intervention for smoking cessation in Romania. Quit Together builds on the Motivation and Problem Solving (MAPS) approach, enhanced by targeting the couples’ smoking behavior and focusing on dyadic efficacy for smoking cessation. The study is an ongoing randomized controlled trial of 120 Romanian pregnant smokers and their partners. Participants are randomized to: 1) an intervention arm consisting, typically, of up to 8 prenatal and postnatal telephone counseling calls for the women and 4 for their partners, combining motivational strategies and problem-solving/ coping skills to encourage the woman to quit smoking and the partner to support her decision; and 2) a control arm (usual care). The primary outcome is maternal biochemically verified smoking abstinence at 3 months postpartum. Quit Together has the potential to identify effective strategies to increase maternal smoking cessation during pregnancy and smoking abstinence after birth. If effective, Quit Together is expected to have a sustainable positive impact on the health of the child, mother and partner, and potentially reduced health system costs.

To analyze the contribution of maternal eNOS-Glu298Asp genotypes and also the association with fetal genotypes to the development of preeclampsia, prognosis, and maternal dyslipidemia.Sixty-nine pairs of preeclamptic mothers/newborns and 94 pairs of normotensive mothers/newborns were genotyped for eNOS-Glu298Asp using PCR-RFLP methods.Women carriers of at least one Asp298 allele had a 1.53-fold (p = NS), 1.88-fold (p = NS), and 2.08-fold (p = .05), respectively, increased risk to develop PIH, mild, or severe preeclampsia. If both the mother and the newborn were carriers of the Asp298 allele, the risk for preeclampsia was 5.09-fold higher (p .001). Preeclamptic women with severe preeclampsia had significantly higher cholesterol (mg/dl, 287.23 ± 43.01 versus 235.36 ± 45.01, p = .02) and LDL (mg/dl, 194.9 ± 42.8 versus 144.98 ± 54.84, p = .04) levels and lower HDL levels (mg/dl, 32.12 ± 5.48 versus 57.84 ± 20.59, p = .02) compared to noncarriers. Also, higher LDL levels (mg/dl, 188.76 ± 46.61 versus 136.75 ± 41.85, p = .03) and lower HDL levels (mg/dl, 32.8 ± 5.64 versus 61.06 ± 22.45, p = .02) were found in preeclamptic women with severe preeclampsia whose newborns were carriers of the Asp298 allele.The eNOS-Glu298Asp variant (in mothers and newborns) in association with dyslipidemia could affect bioavailability of NO and could represent an increased risk for preeclampsia.

To analyze the influence of maternal/newborn vascular endothelial growth factor (VEGF)-CT936 interaction as a modulating factor in preeclampsia as well as its influence on the maternal angiogenic balance.Seventy pairs of preeclamptic women/newborns and 94 pairs of normal pregnant mothers/newborns were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Serum VEGF and soluble VEGF receptor-1 (sVEGFR-1) levels were measured using ELISA.The risk to develop mild (odds ratio; OR: 3.79, p = 0.008) and severe (OR: 2.94, p = 0.037) preeclampsia being increased in association with the CT936-VEGF genotype and increased in severe preeclampsia to 6.07 (p = 0.03) if the women were carriers of the homozygous TT936-VEGF genotype. The presence of the VEGF-T936 allele in both the mother and the newborn significantly increases the risk of pregnancy-induced hypertension (PIH), mild and severe preeclampsia. If both the mothers and newborns were carriers of the VEGF-T936 allele, significantly lower VEGF and higher sVEGFR-1 levels were observed for all types of preeclampsia. Pregnant women with PIH and severe preeclampsia delivered at a significantly earlier gestational age neonates with a significantly lower birth weight if both the preeclamptic mothers and their newborns were carriers of the VEGF-T936 allele.Our study suggests the role of maternal/fetal VEGF-CT936 polymorphism as a modulating factor in preeclampsia, which affects the angiogenic balance in preeclamptic mothers, as well as their pregnancy outcome.

Apert syndrome is a rare autosomal dominant disorder characterized by severe craniosynostosis, hypoplastic mediofacial structures and symmetric syndactyly. The syndactyly involves both cutaneous and osseous structures of the upper and lower limbs. Apart from skeletal anomalies, affected fetuses may often present central nervous system malformations and various visceral malformations (congenital heart defects, genitourinary anomalies, choanal stenosis, tracheal abnormalities, diaphragmatic hernia and omphalocele). Mental retardation is frequently encountered, as are a large variety of craniofacial and neurocognitive phenotypes. The incidence of Apert syndrome is approximately one in 65,000 newborns, representing 4.5% of all craniosynostosis cases. The first cases of Apert syndrome were diagnosed by ultrasound and fetoscopy in the third trimester of pregnancy. With the introduction of three-dimensional (3D) ultrasonography, identification of fetal changes characteristic of Apert syndrome is possible in the second trimester of pregnancy. Diagnosis confirmation requires fetal DNA analysis by fibroblast growth factor receptor 2 gene amplification (FGFR2) followed by sequencing and digestion with restriction enzymes. Recently, noninvasive prenatal diagnosis was reported using free fetal DNA analysis with cell-free fetal DNA (cffDNA) in maternal plasma by Polymerase Chain Reaction (PCR) assay and enzymatic digestion with restriction enzymes. As the syndrome has rarely been reported in Romania, we present the case of a fetus diagnosed with Apert syndrome in the second trimester of pregnancy. Early ultrasound detection of suggestive signs for this syndrome (craniosynostosis, syndactyly) was followed by confirmation of the diagnosis by prenatal fetal DNA analysis. How to cite this article Stamatian F, Kovacs T, Militaru M, Caracostea G. Apert Syndrome in the Era of Prenatal Diagnosis. Donald School J Ultrasound Obstet Gynecol 2014;8(2):222-225.

Background Although it is known that cardiac parameters have abnormal values in severely affected fetuses with intrauterine growth restriction (IUGR), recent research suggested that subclinical cardiac dysfunction may be present from the early stages of fetal deterioration. The identification and monitoring of cardiac dysfunction may be relevant for the management of these cases. Materials and methods In this prospective observational study, we evaluated 17 IUGR fetuses from nulliparous pregnant women diagnosed with pre-eclampsia. Cardiac structural assessment was performed using segmental sequential analysis. Cardiac function was assessed by conventional echocardiography and Tissue Doppler Imaging (TDI). Results Gestational age at admittance ranged between 24 and 30 weeks. A severe form of pre-eclampsia was diagnosed in 2 of 17 cases. Conventional cardiac examination showed low left and right ventricular diastolic filling with low E and A velocities, and increased myocardial performance indexes for both ventricles. Using TDI we observed decreased myocardial velocities and impaired contractility (demonstrated by low left and right diastolic velocities, as well as increased E’/A’ ratios). Conclusion Our study confirms the presence of early cardiac dysfunction in IUGR fetuses. Further studies are warranted to confirm the utility of TDI in obstetric ultrasound routine examination for monitoring fetal cardiac function in high-risk pregnancies. How to cite this article Caracostea G, Stamatian F. Assessment of Cardiac Dysfunction in the Intrauterine Growthrestricted Fetuses from Pre-eclamptic Mothers. Donald School J Ultrasound Obstet Gynecol 2014;8(2):123-127.

To establish that newborn Ser447Stop and Asn291Ser may have interactive effects with maternal genotypes on the plasma lipoprotein levels, risk of preeclampsia as well as on the prognosis of preeclampsia.Seventy preeclamptic women and 94 normotensive pregnant women, and their newborns were genotyped using PCR-RFLP methods.The risk of mild and severe preeclampsia was 4 (p = 0.004) and 5.18 (p = 0.001), respectively, if both the mother and newborn were carriers of the Ser447/Ser477 genotype. If both the mother and newborn were carriers of the Asn291Ser variant, the risk to develop severe preeclampsia was 6.07 (p = 0.03). Women with mild and severe preeclampsia had higher TG (p 0.001; p 0.001) and LDL-C levels (p = 0.008; p 0.001) if both the mother and newborn were carriers of the Ser447/Ser447 genotype. Women with severe preeclampsia had significantly higher TG (p = 0.03) and LDL-C levels (p = 0.037) if both the mother and newborn were carriers of Asn291Ser. Newborn/maternal LpL interaction had no statistically significant influence on pregnancy outcome.The newborn/maternal LpL interaction influences the severity of preeclampsia and modulates the lipid profile particularly in severe preeclampsia.

To investigate the biochemical and genetic thyroid status in women with preeclampsia by the determination of serum FT3 and FT4 levels in association with D1-C785T genotypes.We genotyped using PCR-RFLP methods 50 women with preeclampsia and 50 normotensive pregnant women.FT3 levels (pg/ml, 2.63 ± 0.56 vs. 2.91 ± 1.41) were low, and FT4 levels (ng/dl, 1.11 ± 0.3 vs. 0.88 ± 0.14) were high in women with preeclampsia compared to normal pregnant women. The association with severe preeclampsia was stronger for the homozygous T/T genotype (OR 6.57, p = 0.029). Women with preeclampsia with the D1-T785 mutated allele had lower FT3 levels (pg/ml, 2.31 ± 0.81 vs. 3.04 ± 0.39, p 0.001), higher FT4 levels (ng/dl, 1.32 ± 0.87 vs. 0.84 ± 0.24, p = 0.009) than women with preeclampsia with the D1-C/C genotype. Significant decrease in serum FT3 levels in positive women with severe preeclampsia compared to women negative for this genetic variation (pg/ml, 1.59 ± 0.74 vs. 2.77 ± 0.23, p = 0.003) was observed. Women with severe preeclampsia, positive for the mutated T785 allele, delivered at a significantly lower gestational age (31.75 ± 3.69 vs. 38.66 ± 3.21 weeks, p = 0.035) neonates with a lower birth weight (1861.11 ± 869.9 vs. 3500 ± 424.26 g, p = 0.023) compared to women negative for the same allele.Thyroid hormone levels and the D1-C785T polymorphism, alone or in combination, correlate with the severity of preeclampsia. The D1-C785T polymorphism influences the outcome of pregnancy in severe preeclampsia.

The development of an acardiac anomaly, one of the most severe human malformations, is a rare complication unique to monochorionic multiple pregnancies. In this condition, the primary malformation is the lack of a well-defined cardiac structure in one twin (the acardiac twin), which is kept alive by its structurally normal co-twin (the pump twin). The final diagnosis for a twin pregnancy with an acardiac twin may be established after the 9th week, when the cephalic extremity and limbs can be precisely determined. Direct signs that lead to the diagnosis of an acardiac twin include the absence of cardiac and fetal movements, difficult visualization of the trunk and cephalic poles, thickening of subcutaneous tissue and the presence of umbilical artery reverse flow towards the acardiac fetus mass. The pump fetus may demonstrate hydramnios, cardiomegaly and heart failure. Once an acardiac anomaly is diagnosed, both the acardiac and pump twins should be assessed to classify the pregnancy according to prognostic factors based on the size and growth of the acardiac twin and the cardiovascular condition of the pump twin. Assessing the extent of heart damage in the pump fetus is a key step in pregnancy management. There are two available options, either conservative or interventional, for the management of these pregnancies. Serial ultrasound surveillance is important for detecting any worsening of the condition, which may suggest the need for interventions to optimize the pump-twin's chance for survival. We performed a retrospective analysis of three cases of monochorionic twin pregnancies diagnosed with a twin reversed arterial perfusion (TRAP) sequence during the first and second trimesters. We compared our data with those offered by a review of the literature.

Aim: To identify if there is a relationship between the deiodinase D2-Thr92Ala genetic variant, thyroid hormone levels and biochemical hypothyroidism in preeclampsia. Materials and methods: We genotyped 125 women with preeclampsia and 131 normal pregnant women using PCR-RFLP. Serum thyroid hormone levels were determined using ELISA. Results: Our study showed higher TSH and FT4 levels and lower FT3 levels in women with preeclampsia compared to normal pregnant women, with statistical significance for women with mild and severe preeclampsia. The risk to develop pregnancy-induced hypertension (PIH), mild or severe preeclampsia was increased in carriers of at least one D2-Ala92 allele. TSH and FT4 levels were significantly higher and FT3 levels were significantly lower in preeclamptic women with severe preeclampsia if they carried the D2-Ala92 allele compared to non-carriers. Pregnant women with PIH and mild preeclampsia, carriers of at least one D2-Ala92 allele, delivered at lower gestational age neonates with a lower birth weight compared to non-carriers, but the results were statistically significant only in severe preeclampsia. Conclusion: The D2-Thr92Ala genetic variant is associated with the severity and the obstetric outcome of preeclampsia, and it also influences thyroid hormone levels. The study demonstrates non-thyroidal biochemical hypothyroidism – as a result of deiodination effects due to D2 genotypes.

Smoking during pregnancy is causally associated with reduced birth weight and is strongly related to preterm birth. Smoking cessation in early pregnancy seems to reduce these risks, although the research evidence is limited. In a sample of Romanian women, differences in birth outcomes were assessed between non-smokers and women who continued to smoke during pregnancy and non-smokers and women who stopped smok- ing when they found out about the pregnancy. Pregnant women were recruited in two urban clinics (N= 474). A baseline questionnaire collected information on their smoking status, depressive symptoms, stress, demographics, and other characteristics at recruitment. The women reported the newborn weight and birth term by phone in the first weeks following birth. Descriptive statistics and multivariate regressions were used to ana- lyze the relationship between smoking status during pregnancy and birth outcomes. Over 61% (N = 290) women were non-smokers, 15% (N= 72) smoked during pregnancy, and 24% (N= 112) quit smoking when they found out about the pregnancy. Compared to non-smokers, continuous smokers delivered babies 165 grams lighter (95% CI -313, -17). Women who stopped smoking when they ascertained the pregnancy had higher odds of delivering a newborn who was small for gestational age compared to non-smokers (OR= 2.16, 95% CI 1.05, 4.43). Elevated maternal stress was associated with reduced birth weight (-113 grams, 95% CI -213, -11), and higher odds of a preterm birth (OR=2.8, 95% CI 1.17, 6.76). In a predominantly urban sample of Romanian women, continuous maternal smoking during pregnancy was a risk factor for restricted foetal growth. Smoking cessation when the pregnancy was ascertained did not seem to reduce this risk. Smoking prevention efforts should therefore begin before pregnancy and should integrate psychological components, addressing maternal stress in particular.

Background Maternal smoking is one of the most modifiable factors with clear adverse effects for the fetus and the entire family. Addressing the dearth of pregnancy smoking interventions with partner support, PRISM (Prevent Relapse In SMoking) is a partnership between a research institution and the two largest state-owned obstetrics and gynecology clinics in Cluj-Napoca, Romania. The study will assess the efficacy of a couple-focused telephone-counseling program to prevent smoking relapse among mothers who quit smoking closely before or during pregnancy. Methods/design The intervention is a program for couples based on motivational interviewing delivered over the phone after birth. The study is an ongoing randomized controlled trial of 250 Romanian women recruited soon after childbirth, who quit smoking in the six months before pregnancy or no later than the end of the first pregnancy trimester and remained abstinent (which was biochemically verified) until delivery. Participants were randomized to: (1) a control arm (usual care); and (2) an intervention arm consisting of up to 4 postnatal counseling calls for mothers and their partners using motivational interviewing to encourage the woman to remain smoke-free and the partner to support her decision. The primary outcome is maternal smoking abstinence at 6 months postpartum (biochemically verified). Discussion PRISM has the potential to identify strategies to reduce maternal postnatal relapse and increase partner quitting. If successful, the program may be an effective method to prevent and reduce smoking, which may lead to improved child, mother, and partner health both in the short and the long term.

In the last few decades, post-mortem magnetic resonance imaging (PM-MRI) started to escalate as a promising alternative to conventional autopsy (Sieswerda-Hoogendoorn & Van Rijn, 2010), one of the ...

To investigate the role of LPL-Ser447Ter and Asn291Ser polymorphisms in the predisposition to different types of preeclampsia, as well as the contribution to the lipid profile and the prognosis of preeclampsia.125 women with preeclampsia and 131 normal pregnant women were genetically screened using PCR-restriction enzyme analysis.We found an increased risk for mild and severe preeclampsia in carriers of the negative Ser447/Ser447 genotype. An increased risk for severe preeclampsia in carriers of the Asn291Ser polymorphism was seen. In mild and severe preeclampsia, carriers of the negative Ser447/Ser447 genotype had increased TG and LDL-C levels and decreased HDL-C levels as compared with carriers of the Ser447Ter polymorphism. The presence of the Asn291Ser polymorphism influenced the higher TG and LDL-C levels and the lower HDL-C levels in mild preeclampsia and the higher TG and LDL-C levels in severe preeclampsia. Women with severe preeclampsia, carriers of the Ser447/Ser447 genotype and women with mild preeclampsia, carriers of the Asn291Ser polymorphism, delivered at a lower gestational age neonates with a lower birth weight compared to women carriers of this polymorphism.The LPL variants are associated with severe preeclampsia and influence the lipid profile and pregnancy outcome in mild and severe preeclampsia.

Cystic nephroma is a rare and benign renal tumour of unknown origin, usually diagnosed in the first years of childhood or during adult life. To our knowledge, there are no records in the literature of this particular tumour being descried prenatally. We present a case of a fetus diagnosed with cystic nephroma on 16 weeks of gestation. The renal tumour was evaluated by prenatal ultrasound, post mortem with 7T magnetic resonance imaging, and conventional autopsy.

To check whether individual or combined mutated genotypes for Ala-9Val (Mn-SOD) and Arg213Gly (EC-SOD) are associated with preeclampsia; to check the influence of the mutated genotypes on the degree of severity and perinatal outcome of preeclampsia.We genotyped 97 pregnant women (47 with preeclampsia and 50 normal pregnant women) using PCR-RFLP analysis.The Val/Val (Mn-SOD) genotype (OR 5.99, p = 0.004) but not the Gly/Gly (EC-SOD) genotype (OR 4.23, p = 0.027) was significantly associated with preeclampsia. Higher frequency of both polymorphisms in women with preeclampsia (42.55%) compared to normal pregnant women (8%). Higher frequency of women diagnosed with PIH (27.27%, OR 4.31), mild (50%, OR 11.5) and severe preeclampsia (37.5%, OR 6.9) positive for both polymorphism compared to control women (8%). There was a statistically significant difference in gestational age at delivery according to Mn-SOD (Ala/Ala vs. Val/Val, 39 ± 1.41 weeks vs. 32.77 ± 3.7 weeks) and EC-SOD genotypes (Arg/Arg vs. Gly/Gly, 37.05 ± 3.18 weeks vs. 31.5 ± 3.84 weeks). There also was a statistically significant difference in birth weight according to Mn-SOD (grams, Ala/Ala vs. Val/Val, 3080 ± 481.66 vs. 2376.92 ± 916.88) and EC-SOD genotypes (grams, Arg/Arg vs. Gly/Gly, 2934.09 ± 662.14 vs. 2080 ± 721.19).Our study demonstrates a relationship between these two mutated genes, the clinical severity and the perinatal outcome of preeclampsia.

Introduction : We evaluated the association of the mutated genotypes Met235Thr-AGT, Thr174Met-AGT, I/D-ACE, A2350G-ACE, A1166C-AT2R1, C3123A-AT2R2, 83 A/G-REN with the risk and outcome of pre-eclampsia; we also investigated whether genes in newborns increase maternal risk of pre-eclampsia. Materials and methods : Thirty-six pairs of pre-eclamptic women and their newborns were genotyped, along with 71 pairs of controls (mothers/newborns) using PCR-RFLP analysis. Results : The Thr235/Thr235 (OR 3.44, p = 0.01), DD (OR 2.66, p = 0.039), CC1166 (OR 5.56, p = 0.04), AA3123 (OR 3.77, p = 0.03) and GG 83 (OR 8.32, p = 0.006) genotypes are significantly associated with pre-eclampsia. Women with pre-eclampsia positive for Met235Thr (34.64 ± 3.92 weeks vs. 38 ± 2 weeks), Thr174Met (32.58 ± 3.92 weeks vs. 36.38 ± 3.25 weeks), I/D (34.47 ± 3.67 weeks vs. 38.33 ± 3.5 weeks) delivered at a significant lower gestational age compared with pre-eclamptic women with a normal genotype. Newborns from women with pre-eclampsia positive for Thr174Met (2190 ± 820.21 g vs. 2702.08 ± 967.23 g), I/D (2399.33 ± 938.38 g vs. 3191.66 ± 684.40 g) had a significant lower birth weight compared with newborns from women with normal pregnancies. When both the mother and the newborn were positive for Met235Thr, I/D, A2350G, A1166C or 83 A/G polymorphisms, the risk for pre-eclampsia was significantly increased at 6.67 ( p < 0.01), 5 ( p < 0.01), 3.33 ( p = 0.006), 2.72 ( p = 0.04) and 7.8 ( p < 0.01), respectively. Conclusions : The results of our study confirm that, in pre-eclampsia, both maternal and newborn genetic variations implicated in blood pressure regulation are important.

Introduction: We evaluated the association of the mutated genotypes Met235Thr-AGT, Thr174Met-AGT, I/D-ACE, A2350G-ACE, A1166C-AT2R1, C3123A-AT2R2, 83A/G-REN with the risk and outcome of pre-eclampsia; we also investigated whether genes in newborns increase maternal risk of pre-eclampsia. Materials and methods: Thirty-six pairs of pre-eclamptic women and their newborns were genotyped, along with 71 pairs of controls (mothers/newborns) using PCR-RFLP analysis. Results: The Thr235/Thr235 (OR 3.44, p = 0.01), DD (OR 2.66, p = 0.039), CC1166 (OR 5.56, p = 0.04), AA3123 (OR 3.77, p = 0.03) and GG83 (OR 8.32, p = 0.006) genotypes are significantly associated with pre-eclampsia. Women with pre-eclampsia positive for Met235Thr (34.64 ± 3.92 weeks vs. 38 ± 2 weeks), Thr174Met (32.58 ± 3.92 weeks vs. 36.38 ± 3.25 weeks), I/D (34.47 ± 3.67 weeks vs. 38.33 ± 3.5 weeks) delivered at a significant lower gestational age compared with pre-eclamptic women with a normal genotype. Newborns from women with pre-eclampsia positive for Thr174Met (2190 ± 820.21 g vs. 2702.08 ± 967.23 g), I/D (2399.33 ± 938.38 g vs. 3191.66 ± 684.40 g) had a significant lower birth weight compared with newborns from women with normal pregnancies. When both the mother and the newborn were positive for Met235Thr, I/D, A2350G, A1166C or 83A/G polymorphisms, the risk for pre-eclampsia was significantly increased at 6.67 ( p < 0.01), 5 ( p < 0.01), 3.33 ( p = 0.006), 2.72 ( p = 0.04) and 7.8 ( p < 0.01), respectively. Conclusions: The results of our study confirm that, in pre-eclampsia, both maternal and newborn genetic variations implicated in blood pressure regulation are important.

To analyze the influence of thyroid stimulating hormone (TSH) levels and/or the Asp727Glu polymorphism on the severity and perinatal outcome of preeclampsia.Forty-nine women with preeclampsia and 58 normal pregnant women were genotyped for the TSHRc-Asp727Glu polymorphism using PCR-RFLP methods. The plasma TSH levels were measured by ELISA method.Fourteen (77.78%) women of 18 pregnant women with abnormal TSH levels had preeclampsia compared to 35 (39.33%) of 89 pregnant women with normal TSH levels who had preeclampsia (OR 5.4, p = 0.003). The mean TSH levels were 2.13 ± 1.44 μU/ml, 2.47 ± 2.03 μU/ml and 4.27 ± 2.75 μU/ml in women with pregnancy induced hypertension (PIH), mild and severe preeclampsia, respectively. OR for PIH and mild preeclampsia was 1.08 (p = 1) and 9.45 (p = 0.06), respectively, in association with the Asp/Asp genotype. All women with severe preeclampsia had the Asp/Asp genotype. The risk for preeclampsia in association with TSH4 μU/ml and Asp/Asp genotype is 20.8 (p0.01). Preeclamptic women with TSH levels4 μU/ml and the Asp/Asp genotype delivered earlier (weeks, 34.92 ± 4.33 vs. 36.6 ± 3.21, p = 0.3) neonates with lower birth weight (grams, 2361.54 ± 1155.81 vs. 3000 ± 1072.38, p = 0.3) than preeclamptic women with TSH levels 4 μU/ml and the Asp/Glu genotype.Higher TSH levels and/or the TSHRc-Asp727Glu polymorphism represent risk factors for preeclampsia and could be correlated with the severity of preeclampsia.

Ectopic pregnancy represents even nowadays a problem with a major impact upon women reproductive health, with an incidence that is still growing. Modern diagnosis methods have allowed the disappearance of the mortality, but there are persisting significant tubal dysfunctions. The present clinical study has analyzed the evolutions of the diagnosis and treatment methods upon 238 cases of extrauterine pregnancy hospitalized in the Ist Clinic of Obstetrics and Gynecology Cluj-Napoca between years 2000 and 2006. The use of the new biochemical markers and the transvaginal ultrasound examination have allowed the diagnosis of extrauterine pregnancy in an early stage, with an increased percent of uncomplicated cases raising from 55.8% to 74%. Also the percent of laparoscopic approach has grown from 23.5 to 58.6%. The radical procedure, salpingectomy was predominantly used. The laparoscopic approach has been as successful as the laparotomy and no complications have been reported. The mean hospitalization period after laparoscopy has been significantly shorter than after laparotomy (p0.05). These results confirm the medical and economical advantages of the laparoscopic approach and recommend laparoscopy as the election method in the management of ectopic pregnancy.

The use of maternal epidural analgesia in labor may be associated with non-reassuring fetal heart rate (FHR) patterns. We aimed to assess changes in fetal oxygen saturation (FSpO(2)) during epidural analgesia in labor.This was a prospective observational study. Twenty healthy parturients were enrolled following the inclusion criteria. Informed consent was obtained. Mode of delivery, use of oxytocin, maternal blood pressure, umbilical cord blood analysis, Apgar score, and neonatal outcomes were evaluated. Ropivacaine at a low concentration of 0.1% (1 mg/mL) co-administered with an opioid (fentanyl 2.5 microg/mL) was used. The values of fetal oxygen saturation were registered continuously 10 minutes before the administration of the analgesic drug and during the following 30 minutes after administration. Pulse oximetry was used simultaneously with cardiotocography (CTG).The average value for fetal oxygen saturation before the analgesic drug administration was 44.3 +/- 8.8%; during the first 10 minutes following administration it was 41.3 +/- 7.2% (p = 0.25) and during the following 20 minutes it was 43.05% +/- 6.9% (p = 0.63). There was no direct relationship between non-reassuring CTG pattern appearance and FSpO(2)30% (RR = 1.11, 95% CI 0.76-1.64). No significant correlation was found between FSpO(2) values within the first 30 minutes of epidural analgesia and neonatal acidotic status (pHor=7.00; RR = 0.33, 95% CI 0.04-3.09, and base excessor=-12 mmol/L; RR = 1, 95% CI 0.21-4.71).There were no differences in FSpO(2) values in the first 30 minutes following administration of analgesic drugs and most of the cases with non-reassuring CTG patterns had values of FSpO(2) constantlyor=30%.