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1.
Am J Obstet Gynecol ; 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38761840

RESUMO

OBJECTIVE: To evaluate the role of maternal age in the incidence of non-chromosomal congenital anomalies (NCAs) and to pinpoint age groups at higher risk to refine screening protocols. DATA SOURCES: Search performed on October 19, 2021, across MEDLINE (via PubMed), Cochrane Library (CENTRAL), and Embase. STUDY ELIGIBILITY CRITERIA: Included were population-based studies assessing the impact of maternal age on the incidence of NCAs in pregnant women, without restrictions on age range, country, or comorbidities. STUDY APPRAISAL AND SYNTHESIS METHODS: The PRISMA 2020 guideline and Cochrane Handbook informed the systematic review and meta-analysis. A random-effects model was used for pooling effect sizes, considering the heterogeneity across studies. RESULTS: From 15,547 studies, 72 were synthesized. Maternal age >35 showed an increased NCA risk (RR 1.31, CI: 1.07-1.61), rising notably after >40 (RR 1.44, CI: 1.25-1.66). The latter changes to 1.25 (CI: 1.08-1.46) if the co-occurrence of chromosomal aberrations is excluded. Specific anomalies like cleft lip/palate (>40, RR 1.57, CI: 1.11-2.20) and circulatory system defects (>40, RR 1.94, CI: 1.28-2.93) were significantly associated with advanced maternal age. Conversely, gastroschisis was linked to mothers <20 (RR 3.08, CI: 2.74-3.47). CONCLUSIONS: The study confirms that both very young and advanced maternal ages significantly increase the risk of NCAs. There's a pressing need for age-specific prenatal screening protocols to better detect these anomalies, especially considering the current trend of delayed childbearing. Further research is required to fully understand the impact of maternal age on the prevalence of rarer NCAs.

2.
Cancers (Basel) ; 16(8)2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38672691

RESUMO

INTRODUCTION: Topical Imiquimod is an immune response modifier approved for the off-label use of vulvar intraepithelial neoplasia. We conducted this systematic review and meta-analysis to investigate the efficacy and safety of Imiquimod in treating cervical intraepithelial neoplasia (CIN) and human papillomavirus (HPV)-positive patients. METHODS: The study was prospectively registered (CRD420222870) and involved a comprehensive systematic search of five medical databases on 10 October 2022. We included articles that assessed the use of Imiquimod in cervical dysplasia and HPV-positive patients. Pooled proportions, risk ratios (RRs), and corresponding 95% confidence intervals (CIs) were calculated using a random effects model to generate summary estimates. Statistical heterogeneity was assessed using I2 tested by the Cochran Q tests. RESULTS: Eight articles reported on 398 patients who received Imiquimod out of 672 patients. Among CIN-2-3 patients, we observed a pooled regression rate of 61% (CI: 0.46-0.75; I2: 77%). When compared, Imiquimod was inferior to conization (RR: 0.62; CI: 0.42-0.92; I2: 64%). The HPV clearance rate in women who completed Imiquimod treatment was 60% (CI: 0.31-0.81; I2: 57%). The majority of side effects reported were mild to moderate in severity. CONCLUSIONS: Our findings indicate that topical Imiquimod is safe and effective in reducing cervical intraepithelial neoplasia and promoting HPV clearance. However, it was found to be inferior compared to conization. Imiquimod could be considered a potential medication for high-grade CIN patients and should be incorporated into guidelines for treating cervical dysplasia.

3.
J Ovarian Res ; 17(1): 53, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38409030

RESUMO

BACKGROUND: Ovarian cancer is the eighth leading cause of cancer-related death among women, characterized by late diagnosis and a high relapse rate. In randomized controlled trials, we aimed to evaluate the efficacy and safety of PARP inhibitors (PARPi) in treating advanced ovarian cancer. METHODS: This review was registered on PROSPERO (CRD42021283150), included all phase II and phase III randomized controlled trials (RCTs) assessing the effect of PARPi on ovarian cancer until the 13th of April, 2022. The main outcomes were progression- free survival (PFS), overall survival (OS), and adverse events (AEs). Pooled hazard ratios (HRs), and risk ratios (RRs) were calculated with 95% confidence intervals (95% CI). The random-effects model was applied in all analyses. RESULTS: In the meta-analysis, 16 eligible RCTs were included, with a total of 5,815 patients. In recurrent ovarian cancer, PARPi maintenance therapy showed a significant PFS benefit over placebo in the total population (HR 0.34, CI 0.29-0.40), BRCA mutant (HR 0.24, CI 0.18-0.31), germline BRCA mutant (HR 0.23, CI 0.18-0.30), and BRCA wild-type cases (HR 0.50, CI 0.39-0.65). PARPi monotherapy also improved PFS (HR 0.62, CI 0.51-0.76) compared with chemotherapy in BRCAm patients with recurrent ovarian cancer. The use of PARPi maintenance therapy resulted in an improvement in PFS over placebo in newly-diagnosed cancers in the overall population (HR 0.46, CI 0.30-0.71) and the BRCAm population (HR 0.36, CI 0.29-0.44). Although the risk of severe AEs was increased by PARPi therapy compared to placebo in most settings investigated, these side effects were controllable with dose modification, and treatment discontinuation was required in the minority of cases. CONCLUSIONS: PARPis are an effective therapeutic option for newly-diagnosed and recurrent ovarian cancer. Despite a minor increase in the frequency of serious adverse effects, they are generally well tolerated.


Assuntos
Antineoplásicos , Neoplasias Ovarianas , Humanos , Feminino , Inibidores de Poli(ADP-Ribose) Polimerases/farmacologia , Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico , Recidiva Local de Neoplasia/tratamento farmacológico , Ensaios Clínicos Controlados Aleatórios como Assunto , Antineoplásicos/uso terapêutico , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/induzido quimicamente , Carcinoma Epitelial do Ovário/tratamento farmacológico
4.
Reprod Health ; 21(1): 28, 2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38388374

RESUMO

INTRODUCTION: Polycystic ovary syndrome (PCOS) is a common condition in women, characterised by reproductive and metabolic dysfunction. While dietary approaches have been evaluated as a first-line treatment for patients with PCOS, there is limited evidence to support preference for a specific dietary composition. This systematic review and network meta-analysis was performed with the objective of comparing different dietary interventions in terms of positive impact. Metformin, the currently preferred treatment, was also compared. METHODS: The latest systematic search was performed on the 20th of March, 2023. Eligible randomised controlled trials (RCTs) included patients with PCOS and compared the dietary approach with another intervention or a standard diet. Outcomes were expressed via anthropometric measurements and hormonal, glycemic, and lipid levels. The Bayesian method was used to perform a network meta-analysis and to calculate the surface under the cumulative ranking curve (SUCRA) values in order to rank the dietary interventions. The overall quality of the evidence was assessed using the Grading of Recommendations Assessment, Development, and Evaluation system. RESULTS: 19 RCTs were identified, comprising data from 727 patients who were variously treated with 10 types of dietary interventions and metformin. The Dietary Approaches to Stop Hypertension (DASH) diet was the most effective in reducing Homeostatic Model Assessment of Insulin Resistance (SUCRA 92.33%), fasting blood glucose (SUCRA 85.92%), fasting insulin level (SUCRA 79.73%) and triglyceride level (SUCRA 82.07%). For body mass index (BMI), the most effective intervention was the low-calorie diet (SUCRA 84.59%). For weight loss, the low-calorie diet with metformin (SUCRA 74.38%) was the most effective intervention. Metformin produced the greatest reductions in low-density lipoprotein cholesterol (SUCRA 78.08%) and total testosterone levels (SUCRA 71.28%). The low-carb diet was the most effective intervention for reducing cholesterol levels (SUCRA 69.68%), while the normal diet (SUCRA 65.69%) ranked first for increasing high-density lipoprotein cholesterol levels. CONCLUSION: Dietary interventions vary in their effects on metabolic parameters in women with PCOS. Based on our results, the DASH diet is the most effective dietary intervention for treating PCOS. Registration PROSPERO ID CRD42021282984.


Assuntos
Metformina , Síndrome do Ovário Policístico , Feminino , Humanos , Metanálise em Rede , Metformina/uso terapêutico , Dieta , Colesterol
5.
Orthod Craniofac Res ; 2023 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-38010849

RESUMO

OBJECTIVES: Orofacial clefts are among the most common birth defects, with an estimated worldwide incidence of around 1.5-1.7 per 1000 live-born babies. The most frequent form of orofacial clefts is cleft lip with or without cleft palate (CL ± CP). The role of environmental factors in the development of clefts is unclear in most patients, thus the aim of this study was to estimate possible maternal risk factors in the origin of CL ± CP. MATERIALS AND METHODS: 1648 CL ± CP cases, 2654 matched controls and 57 231 population controls were evaluated from The Hungarian Case-Control Surveillance of Congenital Abnormalities. Maternal factors during the critical period in cases and controls were compared. Adjusted odds ratios (OR) with 95% confidence intervals (CI) were estimated in a multivariable conditional logistic regression model. RESULTS: Among socio-demographic data, we have found significant differences between maternal employment. The proportion of unskilled mothers (6.5%) were higher in the CL ± CP group than in controls (3.5%). Medically recorded maternal anaemia, excessive vomiting and threatened abortion were associated with a higher risk of CL ± CP. An elevated risk was also found in various acute illnesses such as influenza (OR: 2.4, 95% CI: 3.0-5.8), acute bronchitis (OR: 4.5, 95% CI: 1.6-12.6) and urinary tract infections (OR: 3.5, 95% CI: 2.0-6.0). Maternal migraine and essential hypertension occurred more frequently in the mothers of cases than in controls. CONCLUSION: The findings of this study suggest that maternal diseases and lifestyle factors during the first trimester play a significant role in the development of CL ± CP.

6.
BJOG ; 130(10): 1217-1225, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37012679

RESUMO

OBJECTIVE: The role of maternal age in the development of non-chromosomal congenital anomalies (NCAs) is under debate. Therefore, the primary aim of this study was to identify the age groups at risk for NCAs. The secondary aim was to perform a detailed analysis of the relative frequency of various anomalies. DESIGN: National population-based study. SETTING: The Hungarian Case-Control Surveillance of Congenital Anomalies (CAs) between 1980 and 2009. POPULATION OR SAMPLE: A cohort of 31 128 cases with confirmed NCAs was compared with Hungary's total of 2 808 345 live births. METHODS: Clinicians prospectively reported cases after delivery. Data were analysed by non-linear logistic regression. Risk-increasing effect of young and advanced maternal age was determined by each NCA group. MAIN OUTCOME MEASURES: These were the total number of NCAs: cleft lip and palate, circulatory, genital, musculoskeletal, digestive, urinary, eye, ear, face, and neck, nervous system, and respiratory system anomalies. RESULTS: The occurrence of NCAs in our database was lowest between 23 and 32 years of maternal age at childbirth. The relative risk (RR) of any NCA was 1.2 (95% CI 1.17-1.23) and 1.15 (95% CI 1.11-1.19) in the very young and advanced age groups, respectively. The respective results for the circulatory system were RR = 1.07 (95% CI 1.01-1.13) and RR = 1.33 (95% CI 1.24-1.42); for cleft lip and palate RR = 1.09 (95% CI 1.01-1.19) and RR = 1.45 (95% CI 1.26-1.67); for genital organs RR = 1.15 (95% CI 1.08-1.22) and RR = 1.16 (95% CI 1.04-1.29); for the musculoskeletal system RR = 1.17 (95% CI 1.12-1.23) and RR = 1.29 (95% CI 1.14-1.44); and for the digestive system RR = 1.23 (95% CI 1.14-1.31) and RR = 1.16 (95% CI 1.04-1.29). CONCLUSION: Very young and advanced maternal ages are associated with different types of NCAs. Therefore, screening protocols should be adjusted for these risk groups.


Assuntos
Fenda Labial , Fissura Palatina , Anormalidades Congênitas , Feminino , Humanos , Idade Materna , Fissura Palatina/epidemiologia , Fissura Palatina/genética , Coleta de Dados , Estudos de Casos e Controles , Anormalidades Congênitas/epidemiologia
7.
Orthod Craniofac Res ; 23(2): 174-180, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31854100

RESUMO

OBJECTS: Isolated cleft palate (CPO) is the rarest form of oral clefting affecting 1-25 per 10 000 newborns worldwide. There is increasing evidence for the different pathogenetic backgrounds of CPO and cleft lip with or without cleft palate. The role of environmental factors in the origin of non-syndromic and syndromic CPO is unclear in most patients. The aim of this study was to estimate possible maternal risk factors in the origin of CPO. SETTING AND SAMPLE POPULATION: The Hungarian Case-Control Surveillance of Congenital Abnormalities contains data of 32 345 birth defect cases and 57 231 control newborns. The study samples included 751 cases with isolated CPO, 1196 matched controls and 57 231 population controls. MATERIAL AND METHODS: Maternal diseases during pregnancy in cases and population controls were compared, and adjusted ORs with 95% CI were calculated in a multivariable unconditional logistic regression model. RESULTS: Beyond the well-known robust female excess (58.9%)-maternal smoking (OR with 95% CI: 2.34, 1.94-2.81) medically recorded maternal anaemia, threatened abortion and excessive vomiting in pregnancy were associated with a higher risk for CPO in the offspring. An elevated risk was found in Graves' disease (OR: 4.30, 1.74-10.62), epilepsy (OR: 4.64, 2.44-8.82), migraine (OR: 2.82, 1.18-6.76) and essential hypertension (OR: 2.33, 1.32-4.10). Among acute diseases common cold (OR: 4.94, 3.48-7.03), acute respiratory infections (OR: 4.20, 1.49-11.82), influenza (OR: 2.95, 1.75-4.95), pulpitis (OR: 7.85, 2.80-22.03), cholecystitis (OR: 3.15, 1.16-8.60), acute urinary tract infections (OR: 4.08, 2.22-7.49) and pelvic inflammatory diseases (OR: 3.93, 1.62-9.53) during pregnancy also were associated with an increased risk for developing CPO. CONCLUSION: The findings of this study suggest that maternal diseases and lifestyle factors during the first trimester play a significant role in the development of isolated cleft palate.


Assuntos
Fenda Labial , Fissura Palatina , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido , Gravidez , Fatores de Risco , Fumar
10.
Am J Med Genet A ; 167A(8): 1779-86, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26017855

RESUMO

The aim of the study was to estimate the possible association of pregnant women with paroxysmal supraventricular tachycardia (PSVT) with the possible risk for adverse birth outcomes, particularly different congenital abnormalities (CAs) in their children. Prospectively and medically recorded PSVT was evaluated in 103 pregnant women who later had offspring with CA (case group) and 149 pregnant women who later delivered newborn infants without CA (control group) and matched to cases in the population-based data set of the Hungarian Case-Control Surveillance System of Congenital Abnormalities, 1980-1996. Of 252 pregnant women with PSVT, 115 (45.6%) had the onset of this condition before the study pregnancy, that is, their PSVT was a chronic condition, while the rest (N = 137) of PSVT was considered as new onset in the study pregnancy. The comparison of occurrence of PSVT in pregnant women who had offspring with different CA groups and in control mothers showed a higher risk for cardiovascular CAs (adjusted OR with 95% CI: 2.1, 1.1-3.8) explained mainly by secundum atrial septal defect. This association was confirmed in pregnant women with PSVT in the second and/or third gestational month, that is, critical period of cardiovascular CAs. In conclusion PSVT in pregnant women associates with a higher risk of secundum atrial septal defect in their children.


Assuntos
Complicações Cardiovasculares na Gravidez/fisiopatologia , Resultado da Gravidez , Taquicardia Paroxística/complicações , Adulto , Estudos de Casos e Controles , Fatores de Confusão Epidemiológicos , Feminino , Humanos , Recém-Nascido , Gravidez , Complicações Cardiovasculares na Gravidez/diagnóstico , Taquicardia Paroxística/diagnóstico , Taquicardia Paroxística/fisiopatologia , Adulto Jovem
11.
Congenit Anom (Kyoto) ; 55(1): 49-54, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25059101

RESUMO

Previously an unexpected association of maternal angina pectoris (MAP) during pregnancy with a higher risk of orofacial clefts in their children was found. There were three objectives of this study: (i) to evaluate the validity of MAP-diagnoses in the previous study and the recent history of mothers with MAP in a follow-up study; (ii) to estimate the prevalence of other congenital abnormalities in the offspring of mothers with MAP; and (iii) to analyze the possible effect of confounders for the risk of orofacial clefts. The large dataset of population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities, 1980-1996 was evaluated including 22 843 cases with congenital abnormalities and 38 151 controls without any defect. Twenty-two cases (0.10%) and 12 controls (0.03%) were born to mothers with medically recorded MAP (odds ratio [OR] with 95% confidence interval [CI]: 3.7, 1.8-7.3). Of 22 cases, six had isolated cleft lip ± palate (OR with 95% CI: 13.3, 4.9-35.9) and two were affected with isolated cleft palate (OR with 95% CI: 10.5, 2.3-47.6). The diagnosis of MAP was confirmed in seven women visited at home in 2009-2010, two had recent myocardial infarction and five were smokers. There was no higher risk for other congenital abnormalities. In conclusion the higher risk of orofacial clefts was confirmed in the children of mothers with MAP and smoking may trigger the genetic predisposition of both MAP and orofacial clefts. However, the number of cases was limited and therefore further studies are needed to confirm or reject this theoretically and practically important observation.


Assuntos
Angina Pectoris/epidemiologia , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Complicações Cardiovasculares na Gravidez/epidemiologia , Adulto , Angina Pectoris/complicações , Estudos de Casos e Controles , Fenda Labial/etiologia , Fissura Palatina/etiologia , Feminino , Humanos , Gravidez , Prevalência , Fatores de Risco
12.
Cent Eur J Public Health ; 23(2): 128-34, 2015 06.
Artigo em Inglês | MEDLINE | ID: mdl-26851423

RESUMO

AIM: The aim of the study was to estimate the possible risk of adverse birth outcomes of children born to mothers with rheumatoid arthritis (RA). METHODS: The dataset of large population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities from 1980-1996 was evaluated including 22,843 cases with congenital abnormalities and 38,151 matched controls without any defect. RESULTS: 36 cases (0.16%) had mothers with RA, while 68 controls (0.18%) were born to mothers without RA (OR=0.9, 95% CI=0.3-1.6). A higher risk for congenital abnormalities in the offspring of pregnant women with RA was not found. In fact there was a larger mean birth weight in the newborns without any defect of mothers with RA and it was associated with a somewhat lower rate of low birth weight. CONCLUSIONS: RA seems to have a beneficial effect not only for pregnant women but for their foetuses as well.


Assuntos
Artrite Reumatoide/complicações , Anormalidades Congênitas/epidemiologia , Adulto , Artrite Reumatoide/epidemiologia , Estudos de Casos e Controles , Feminino , Humanos , Hungria/epidemiologia , Recém-Nascido , Vigilância da População , Gravidez , Resultado da Gravidez
13.
J Matern Fetal Neonatal Med ; 27(11): 1093-8, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24087950

RESUMO

OBJECTIVE: Hydroxyethylrutoside (HER), a flavonoid derivate drug, used frequently in pregnant women for the treatment of vascular diseases. The aim of this case-control study was to evaluate the teratogenic potential of oral HER treatment in the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities. METHODS: Comparative analysis of exposure (HER treatment) during pregnancy in the mothers of cases with congenital abnormalities and matched control newborns without any defect in the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities. RESULTS: Of the 22,843 cases with congenital abnormalities, 567 (2.5%) had mothers with HER treatment while of 38,151 matched controls, 1143 (3.0%) were born to mothers with HER treatment (OR with 95% CI: 0.8, 0.7-0.9). However, an association of HER treatment during the second and/or third month of pregnancy was found with the higher risk of unilateral ocular coloboma (OR with 95% CI: 5.4, 2.2-12.9) and a new congenital abnormality syndrome including anotia/microtia, poly/syndactyly and caudal (genital and anal) defects (OR with 95% CI: 3.0, 1.3-27.4). CONCLUSIONS: Oral HER treatment during early pregnancy associates with a higher risk for ocular coloboma and for a newly delineated congenital abnormality syndrome.


Assuntos
Anormalidades Induzidas por Medicamentos/epidemiologia , Flavonoides/toxicidade , Hidroxietilrutosídeo/toxicidade , Teratogênicos/toxicidade , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Hungria/epidemiologia , Gravidez , Adulto Jovem
14.
Orv Hetil ; 154(50): 1991-7, 2013 Dec 01.
Artigo em Húngaro | MEDLINE | ID: mdl-24317358

RESUMO

The incidence of pregnancy-associated breast cancer is rising. Sentinel lymph node biopsy is the method of choice in clinically node negative cases as the indicated minimally invasive regional staging procedure. Some reports have linked radioisotope and blue dye required for lymphatic mapping to teratogenic effects, the idea of which has become a generalized statement and, until recently, contraindication for these agents was considered during pregnancy. Today, there are many published reports of successful interventions with low-dose 99mTc-labeled human albumin nanocolloid, based on dosimetric modeling demonstrating a negligible radiation exposure of the fetus. These results contributed to the seemingly safe and successful use of sentinel lymph node biopsy during pregnancy, though generally it can not replace axillary lymphadenectomy in the absence of high-quality evidence. The possibility of sentinel lymph node biopsy should be offered to pregnancy-associated early breast cancer patients with clinically negative axilla, and patients should be involved in the decision making following extensive counselling. This paper presents the successful use of sentinel lymph node biopsy with low-dose tracer during two pregnancies (in the first and third trimesters) and, for the first time in Hungarian language, it offers a comprehensive literature review on this topic. Orv. Hetil., 154(50), 1991-1997.


Assuntos
Metástase Linfática , Biópsia de Linfonodo Sentinela , Axila , Neoplasias da Mama , Feminino , Humanos , Excisão de Linfonodo , Linfonodos , Gravidez
15.
Nutrients ; 5(11): 4760-75, 2013 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-24284617

RESUMO

Diet, particularly vitamin deficiency, is associated with the risk of birth defects. The aim of this review paper is to show the characteristics of common and severe neural-tube defects together with congenital heart defects (CHD) as vitamin deficiencies play a role in their origin. The findings of the Hungarian intervention (randomized double-blind and cohort controlled) trials indicated that periconceptional folic acid (FA)-containing multivitamin supplementation prevented the major proportion (about 90%) of neural-tube defects (NTD) as well as a certain proportion (about 40%) of congenital heart defects. Finally the benefits and drawbacks of three main practical applications of folic acid/multivitamin treatment such as (i) dietary intake; (ii) periconceptional supplementation; and (iii) flour fortification are discussed. The conclusion arrived at is indeed confirmation of Benjamin Franklin's statement: "An ounce of prevention is better than a pound of care".


Assuntos
Dieta , Suplementos Nutricionais , Deficiência de Ácido Fólico/tratamento farmacológico , Ácido Fólico/uso terapêutico , Alimentos Fortificados , Cardiopatias Congênitas/prevenção & controle , Defeitos do Tubo Neural/prevenção & controle , Farinha , Ácido Fólico/sangue , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/complicações , Cardiopatias Congênitas/etiologia , Humanos , Defeitos do Tubo Neural/etiologia
16.
Orv Hetil ; 154(26): 1026-30, 2013 Jun 30.
Artigo em Húngaro | MEDLINE | ID: mdl-23800388

RESUMO

INTRODUCTION: Trisomy 21 is the most common chromosomal abnormality, therefore, screening and diagnosis of this disorder is in the centre of attention worldwide. An efficient screening method is the combined test based on maternal age, ultrasound signs, biochemical markers, and a risk ratio can be calculated based on these data. AIM: The aim of the authors was to determine the causes of missed prenatal diagnosis of Down's syndrome at the 2nd Department of Obstetrics and Gynecology, Semmelweis University. METHOD: A retrospective study was carried out by collecting data from medical records of mothers who had delivered a newborn with Down's syndrome in the Department between 2008 and 2012. Each medical record was analyzed individually. RESULTS: In most cases the missed diagnosis of Down's syndrome occurred when the expectant mother failed to attend the first trimester screening or did not take the risk of invasive diagnostic procedures needed for fetal kariotyping. CONCLUSIONS: Analysis of fetal DNA circulating in maternal plasma can be a solution for those who refuse invasive fetal diagnostics. This test has high sensitivity and very low false positive rate. It has become available since the end of 2011 in the United States and, since the autumn of 2012, in Hungary, too. The test, however, is not reimbursed by national health insurance.


Assuntos
Síndrome de Down/sangue , Síndrome de Down/diagnóstico , Feto , Idade Materna , Diagnóstico Pré-Natal/métodos , Análise de Sequência de DNA , Adulto , Biomarcadores/sangue , Gonadotropina Coriônica Humana Subunidade beta/sangue , Síndrome de Down/diagnóstico por imagem , Feminino , Humanos , Hungria , Recém-Nascido , Inibinas/sangue , Cobertura do Seguro , Cariotipagem , Masculino , Medição da Translucência Nucal , Razão de Chances , Gravidez , Proteína Plasmática A Associada à Gravidez/metabolismo , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Sensibilidade e Especificidade , Análise de Sequência de DNA/economia , Estados Unidos , alfa-Fetoproteínas/metabolismo
17.
Ann Nutr Metab ; 63(4): 331-40, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24603503

RESUMO

BACKGROUND/AIMS: Vitamin D may protect from pre-eclampsia through influences on immune modulation and vascular function. To evaluate the role of vitamin D in the development of pre-eclampsia, we conducted a systematic review and meta-analysis including novel data from 2 large-scale epidemiological studies. METHODS: PubMed, EMBASE and the Cochrane Central Register of Controlled Trials were searched for prospective observational studies of association between vitamin D supplementation or status (measured by maternal 25-hydroxyvitamin D, 25(OH)D) with a subsequent risk of pre-eclampsia, or randomised controlled trials using vitamin D supplementation to prevent pre-eclampsia. The Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA) and the Avon Longitudinal Study of Parents and Children (ALSPAC) were included in meta-analyses with published studies. RESULTS: Mothers receiving vitamin D supplementation earlier in pregnancy had lower odds of pre-eclampsia [pooled odds ratios (OR) 0.81 and 95% confidence interval (CI) 0.75-0.87, p = 2.4 × 10(-8), 2 studies] in the meta-analysis of published studies with HCCSCA. The meta-analysis of published studies with ALSPAC suggested an association between higher serum 25(OH)D levels and a reduced risk of pre-eclampsia (pooled OR 0.52 and 95% CI 0.30-0.89, p = 0.02, 6 studies). Randomised trials of supplementation were suggestive of protective association (pooled OR 0.66 and 95% CI 0.52-0.83, p = 0.001, 4 studies). CONCLUSIONS: This study suggests that low maternal serum 25(OH)D concentrations increase pre-eclampsia risk and that vitamin D supplementation lowers this risk. The quality of evidence is insufficient to determine a causal association, which highlights the need for adequately powered clinical trials.


Assuntos
Suplementos Nutricionais , Pré-Eclâmpsia/sangue , Pré-Eclâmpsia/prevenção & controle , Vitamina D/administração & dosagem , Vitamina D/sangue , Feminino , Humanos , Estado Nutricional , Estudos Observacionais como Assunto , Gravidez , Ensaios Clínicos Controlados Aleatórios como Assunto , Fatores de Risco
18.
Arch Gynecol Obstet ; 286(5): 1299-305, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22744848

RESUMO

PURPOSE: To re-evaluate the role of folliculo-luteal function (FLF) in recurrent miscarriage (RM) on the basis of new hormonal diagnostic criteria. METHODS: A prospective, randomized, single-blinded, placebo-controlled study was carried out at 110 apparently healthy patients with three or more miscarriages not related to any presumable predisposing factors of RM were investigated. In the treatment group FLF was normalized preconceptionally. Women in the control group received placebo. FLF was regarded as physiological when the mean of three progesterone (P) values measured every second day between the 4th and 9th day after ovulation or before menstruation was 21.0 ± 2.0 ng/ml. RESULTS: A significant difference (p < 0.001) was found between the physiological and placebo groups in the occurrence of live births: 93 versus 56 %, pregnancy losses: 7 versus 44 %; premature delivery per births: 10 versus 57 %. Luteal mean P and estradiol values were significantly (p < 0.001) different in cases of spontaneous abortions and premature and mature deliveries, respectively (P: 14.6 ± 2.2, 20.2 ± 2.7, 27.6 ± 3.9 ng/ml). A strong and significant correlation (p < 0.001) was found between luteal mean P values and the duration of pregnancy (r = 0.85), as well as between the P means measured in the luteal phase and different parameters of the newborns: weight (r = 0.89), weight percentile (0.86) and length (0.73). Retrospective analysis of our data suggests that a luteal P mean value of 29.3 ± 2.9 ng/ml characterising patients with singular, mature, eutroph newborns seems to be the most favorable P value for successful reproduction in RM. CONCLUSION: Determining the oocyte quality and placentation, FLF quantitatively determines the outcome of pregnancy: its duration and different characteristics of the newborns in RM.


Assuntos
Aborto Habitual/fisiopatologia , Corpo Lúteo/fisiopatologia , Estradiol/metabolismo , Folículo Ovariano/fisiopatologia , Progesterona/metabolismo , Aborto Habitual/metabolismo , Aborto Habitual/prevenção & controle , Adulto , Peso ao Nascer , Clomifeno/uso terapêutico , Corpo Lúteo/metabolismo , Feminino , Fármacos para a Fertilidade Feminina/uso terapêutico , Humanos , Recém-Nascido , Nascido Vivo , Fase Luteal/metabolismo , Folículo Ovariano/metabolismo , Gravidez , Taxa de Gravidez , Nascimento Prematuro/metabolismo , Nascimento Prematuro/fisiopatologia , Método Simples-Cego , Adulto Jovem
19.
Eur J Obstet Gynecol Reprod Biol ; 163(1): 17-21, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22504080

RESUMO

OBJECTIVE: To investigate the association of pre-eclampsia (PE) or PE with superimposed chronic hypertension (PE+SCH) in pregnant women with the risk of various structural birth defects (i.e. congenital abnormalities) in their offspring. STUDY DESIGN: A population-based case-control study using the Hungarian Case-Control Surveillance of Congenital Abnormalities data set (1980-1996), including 22,843 cases with congenital abnormalities and 38,151 matched controls without any congenital abnormalities. The incidence of PE and PE+SCH was compared in women who had offspring with congenital abnormalities (cases) and women who had offspring without any congenital abnormalities (controls). RESULTS: The incidence of PE was examined in 585 cases and 1017 controls, and the incidence of PE+SCH was examined in 154 cases and 269 controls. None of the 25 studied types of congenital abnormality was found to be more likely among the offspring of women with PE. However, the risks of renal dysgenesis [odds ratio (OR) 4.7, 95% confidence interval (CI) 1.7-12.8], esophageal atresia/stenosis (OR 4.6, 95% CI 1.8-12.2) and rectal/anal stenosis (OR 3.7, 95% CI 1.6-8.5) were higher in the offspring of pregnant women with PE+SCH. CONCLUSIONS: PE in pregnant women was not associated with a higher risk of any congenital abnormalities in their offspring, but PE+SCH was associated with a higher risk of renal dysgenesis, esophageal atresia/stenosis and rectal/anal stenosis. These findings need confirmation in other studies.


Assuntos
Anormalidades Congênitas/epidemiologia , Hipertensão/epidemiologia , Pré-Eclâmpsia/epidemiologia , Complicações Cardiovasculares na Gravidez/epidemiologia , Adolescente , Adulto , Canal Anal/anormalidades , Estudos de Casos e Controles , Atresia Esofágica/epidemiologia , Feminino , Humanos , Hungria/epidemiologia , Rim/anormalidades , Gravidez , Sistema de Registros , Risco
20.
J Matern Fetal Neonatal Med ; 25(6): 575-80, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22443476

RESUMO

OBJECTIVE: Vitamin E is frequently used for prevention/treatment of repeated or threatened abortion and threatened preterm delivery in Hungarian pregnant women, though, internationally this old-fashion method is not recommended. METHODS: The rate of preterm birth of newborns in pregnant women with high dose (estimated daily dose 450 mg) vitamin E treatment or without this treatment was compared in the population-based large data set of the Hungarian Case-Control Surveillance System of Congenital Abnormalities. RESULTS: Of 38,151 newborns with any defect, 2,287 (6.0%) had mothers with vitamin E treatment. Pregnant women with vitamin E treatment had very high rate of threatened abortion (43.6% vs. 15.4%) and high rate of threatened preterm delivery (27.5% vs. 13.4%) compared to pregnant women without vitamin E treatment. Nevertheless, the gestational age at delivery was 0.2 week longer and rate of preterm births was lower in the newborns of pregnant women with vitamin E treatment (6.6% vs. 9.3%; adjusted OR with 95% CI: 0.71, 0.63-0.84). This preterm preventive effect of vitamin E treatment could not be explained by known confounders, though folic acid/multivitamins also reduced the rate of preterm birth. CONCLUSION: The study showed nearly 30% reduction in preterm births of pregnant women with vitamin E treatment.


Assuntos
Nascimento Prematuro/epidemiologia , Cuidado Pré-Natal/métodos , Vitamina E/uso terapêutico , Adulto , Suplementos Nutricionais , Feminino , Humanos , Incidência , Recém-Nascido , Fenômenos Fisiológicos da Nutrição Materna , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/prevenção & controle , Gestantes , Nascimento Prematuro/prevenção & controle , Adulto Jovem
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