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OBJECTIVES: To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS). METHODS: A retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a single tertiary referral ultrasound department. RESULTS: The median gestational age at diagnosis decreased from 15 weeks in 2006 to 13 weeks in 2020 (- 0.21 per each year; p = 0.009). In 103 fetuses, the defects were limited to the neural tube (NTD) (74.1%), in 36 fetuses (25.9%), there were additional structural non-NTD anomalies. The most common were ventral body wall defects present in 17.8% (23/139), followed by anomalies of the limbs (7.2%; 10/139), face (6.5%; 9/139) and heart (6.5%; 9/139). Genetic anomalies were diagnosed in 7 of the 74 conclusive results (9.5%; 7/74; trisomy 18, n = 5; triploidy, n = 1; duplication of Xq, n = 1). In univariate logistic regression models, male sex, limb anomalies and ventral body wall defects significantly increased the risk of genetic anomalies (OR 12.3; p = 0.024; OR 16.5; p = 0.002 and OR 10.4; p = 0.009, respectively). CONCLUSIONS: A significant number of fetuses with AEAS have additional structural non-NTD anomalies, which are mostly consistent with limb body wall complex. Genetic abnormalities are diagnosed in almost 10% of affected fetuses and trisomy 18 is the most common aberration. Factors that significantly increased the odds of genetic anomalies in fetuses with AEAS comprise male sex, limb anomalies and ventral body wall defects.
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Anencefalia , Defeitos do Tubo Neural , Gravidez , Feminino , Masculino , Humanos , Lactente , Anencefalia/diagnóstico por imagem , Anencefalia/epidemiologia , Anencefalia/genética , Síndrome da Trissomía do Cromossomo 18 , Estudos Retrospectivos , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/epidemiologia , Diagnóstico Pré-NatalRESUMO
Molecular alterations in tumor-adjacent tissues have recently been recognized in some types of cancer. This phenomenon has not been studied in endometrial cancer. We aimed to analyze the expression of genes associated with cancer progression and metabolism in primary endometrial cancer samples and the matched tumor-adjacent tissues and in the samples of endometria from cancer-free patients with uterine leiomyomas. Paired samples of tumor-adjacent tissues and primary tumors from 49 patients with endometrial cancer (EC), samples of endometrium from 25 patients with leiomyomas of the uterus, and 4 endometrial cancer cell lines were examined by the RT-qPCR, for MYC, NR5A2, CXCR2, HMGA2, LIN28A, OCT4A, OCT4B, OCT4B1, TWIST1, STK11, SNAI1, and miR-205-5p expression. The expression levels of MYC, NR5A2, SNAI1, TWIST1, and STK11 were significantly higher in tumor-adjacent tissues than in the matched EC samples, and this difference was not influenced by the content of cancer cells in cancer-adjacent tissues. The expression of MYC, NR5A2, and SNAI1 was also higher in EC-adjacent tissues than in samples from cancer-free patients. In addition, the expression of MYC and CXCR2 in the tumor related to non-endometrioid adenocarcinoma and reduced the risk of recurrence, respectively, and higher NR5A2 expression in tumor-adjacent tissue increased the risk of death. In conclusion, tissues proximal to EC present higher levels of some cancer-promoting genes than the matched tumors. Malignant tumor-adjacent tissues carry a diagnostic potential and emerge as new promising target of anticancer therapy.
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Neoplasias do Endométrio , Leiomioma , MicroRNAs , Neoplasias do Endométrio/genética , Neoplasias do Endométrio/metabolismo , Endométrio/metabolismo , Feminino , Humanos , Leiomioma/patologia , MicroRNAs/genéticaRESUMO
BACKGROUND: Each year 604,127 new cases of cervical cancer (CC) are diagnosed, and 341,831 individuals die from the disease. It is the fourth most common cancer among women and the fourth most common cause of death from female cancers worldwide. The pathogenesis of CC is associated with human papillomavirus (HPV) infections and consists of several steps involving cell proliferation outside the human body's control mechanisms. Strategies to prevent CC are based on screening and vaccination. SCOPE OF THE REVIEW: The aim of this paper was to collect and analyze the available literature on the issue of CC prevention and the impact of the COVID-19 pandemic on its implementation. For this purpose, PubMed and Google Scholar databases were searched using keywords, such as "cervical cancer"; "HPV"; "prevention"; "prophylaxis"; "vaccination"; "screening" and "COVID-19" in different variations. Only articles published since 2018 were included in the study. CONCLUSIONS: Selected European countries have different CC prevention programs funded by national budgets. This translates into observed differences in the risk of death from CC (age-standardized rate Malta = 1.1, Poland = 5.9). COVID-19 pandemic due to disruption of CC screening may exacerbate these differences in the future. To improve the situation, new screening methods, such as p16/Ki67, HPV self-testing, and the use of artificial intelligence in colposcopic assessment, should be disseminated, as well as free HPV vaccination programs implemented in all countries. The search for new solutions is not without significance and entails ultra-sensitive screening tests for risk groups (mRNA E6/E7, SOX1/SOX14), HPV vaccines with shorter dosing schedules, and new therapeutic pathways using nanotheranostics.
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Background and Objectives: Cervical cancer (CC) is the fourth most common cause of cancer-related morbidity and mortality among women worldwide. CC prevention is based on screening and HPV vaccination. The COVID-19 pandemic has caused difficulties in implementing CC-preventative measures. The aim of this study was to collect data on the implementation of CC prophylaxis in Poland provided by public and private health care with a particular focus on the impact of the COVID-19 pandemic and attempt to estimate the level of CC-screening implementation by 2026 under public and private health care. Materials and Methods: Data on the implementation of privately funded (2016-2021) and publicly funded (2014-2021) CC-preventative measures in Poland were examined. The Prophet algorithm, which positions itself as an automatic forecasting procedure and represents a local Bayesian structural time-series model, was used to predict data. The correlation test statistic was based on Pearson's product moment correlation coefficient and follows a t distribution. An asymptotic confidence interval was given based on Fisher's Z transform. Results: In 2021, a significantly higher population screening coverage was observed in private health care (71.91%) than in the public system (12.6%). Our estimation assumes that the adverse downward trend of population coverage (pap smear CC screening) in the public system will continue to 5.02% and in the private health system to 67.92% in 2026. Correlation analysis showed that with the increase in the sum of HPV tests and LBC, the percentage of Pap smear coverage in the private healthcare sector decreases r = -0.62, p = 0.260 df = 3, CI = [-0.97, 0.57]. The amount of HPV vaccinations provided in private health care is steadily increasing. Immunization coverage of the population of girls aged 9-18 years under private health care at the end of the observation period was 4.3% (2021). Conclusions: It is necessary to reorganize the public CC-screening system in Poland based on a uniform reporting system for tests performed in both public and private health care using the model of action proposed by us. We recommend the introduction of a national free HPV vaccination program funded by the government and implemented in public and private health care facilities.
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COVID-19 , Infecções por Papillomavirus , Neoplasias do Colo do Útero , Teorema de Bayes , COVID-19/epidemiologia , COVID-19/prevenção & controle , Atenção à Saúde , Feminino , Humanos , Pandemias/prevenção & controle , Infecções por Papillomavirus/epidemiologia , Infecções por Papillomavirus/prevenção & controle , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/epidemiologia , Neoplasias do Colo do Útero/prevenção & controleRESUMO
BACKGROUND: Pulmonary blastoma (PB) comprises a rare heterogeneous group of lung tumours typically containing immature epithelial and mesenchymal structures that imitate the embryonic lung tissue and extremely rarely occurs during pregnancy. Although cough and haemoptysis are the most common PB symptoms, they usually indicate other serious pregnancy-related complications. CASE PRESENTATION: The article presents the unusual case of a 22-year-old pregnant woman diagnosed with PB during pregnancy. CONCLUSIONS: PB is characterized by poor prognosis and patients' outcome relies on a rapid diagnosis. Surgery remains the most common and effective treatment. Due to the extreme rarity, the literature contains only single mentions of PB in pregnancy, thus its impact on the course of pregnancy and the developing fetus remains unknown.
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Neoplasias Pulmonares/diagnóstico , Blastoma Pulmonar/diagnóstico , Cesárea , Quimioterapia Adjuvante/métodos , Feminino , Humanos , Recém-Nascido , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/cirurgia , Masculino , Gravidez , Blastoma Pulmonar/tratamento farmacológico , Blastoma Pulmonar/patologia , Blastoma Pulmonar/cirurgia , Resultado do Tratamento , Adulto JovemRESUMO
The objective of this study was to evaluate the nadir CA-125 in patients with epithelial ovarian cancer. A total of 168 patients who achieved complete remission (no clinical and radiological signs, CA-125 ≤ 35 U/ml) after first-line treatment were enrolled in the study. The relationship between CA-125 and survival was examined by applying generalized additive models to the Cox proportional hazards model. The median CA-125 concentration after the treatment was 10 U/ml (2.7-35 U/ml). The nadir CA-125 was related to progression-free survival but not to overall survival. The risk of recurrence in patients with 11-25 U/ml and 26-35 U/ml compared to patients with ≤ 10 U/ml was 1.87 (p < 0.0024) and 2.17 (p < 0.018), respectively. An increased risk of recurrence according to the nadir CA-125 (≤ 10 U/ml vs. 11-25 U/ml and ≤ 10 U/ml vs. 26-35 U/ml) was found in patients with high-grade tumours (hazard ratio, HR = 2.08 and 2.59, respectively), advanced disease (HR = 2.38 and 2.03, respectively), serous histology (HR = 2.08 and 2.43, respectively) and after complete cytoreduction (HR = 2.7 and 2.72, respectively). No correlation between the CA-125 nadir and recurrence risk was found in patients with early-stage disease or those receiving neoadjuvant chemotherapy or bevacizumab.
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Antígeno Ca-125/sangue , Recidiva Local de Neoplasia/sangue , Neoplasias Ovarianas/sangue , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Neoplasias Ovarianas/patologia , Intervalo Livre de ProgressãoRESUMO
PURPOSE: To establish the distribution of diandric and digynic triploidy depending on gestational age. METHODS: 107 triploid samples tested prospectively in a single genetic department during a four-year period were analyzed for parental origin of triploidy by Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) (n=95) with the use of matching parental samples or by MS-MLPA (n=12), when parental samples were unavailable. Tested pregnancies were divided into three subgroups with regard to the gestational age at spontaneous pregnancy loss: <11 gestational weeks, 11-14 gestational weeks, and >14 gestational weeks. RESULTS: Diandric triploidy constituted overall 44.9% (46.5% in samples miscarried <11 gestational weeks, 64.3% in samples miscarried between 11 and 14 gestational weeks, and 27.8% in pregnancies which survived >14 gestational weeks). CONCLUSIONS: The distribution of diandric and digynic triploidy depends on gestational age. The majority of diandric triploid pregnancies is lost in the first trimester of pregnancy. In the second trimester, diandric cases are at least twice less frequent than digynic ones.
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Aborto Espontâneo/epidemiologia , Idade Gestacional , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Triploidia , Aborto Espontâneo/genética , Feminino , Humanos , Masculino , Polônia/epidemiologia , Gravidez , Estudos ProspectivosRESUMO
Triploidy is a life-limiting genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric triploidy) or maternal origin (digynic triploidy). Triploidy affects around 1%-2% of all conceptions. The majority of cases is miscarried at early developmental stages. In consequence of genomic imprinting, parental origin affects the phenotype of triploid pregnancies as well as the prevalence and spectrum of related maternal complications. Distinctive ultrasound features of both triploid phenotypes as well as characteristic patterns of biochemical markers may be useful in diagnosis. Molecular confirmation of the parental origin allows to predict the risk of complications, such as gestational trophoblastic neoplasia, hyperthyroidism, hypertension, or preeclampsia associated with the paternal origin of triploidy. Diagnosis of partial hydatidiform mole associated with diandric triploidy is challenging especially in the first trimester pregnancy loss due to the limitations of both histopathology and ultrasound. We present important clinical aspects of triploid pregnancies and indicate unresolved issues demanding further studies.
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Aborto Espontâneo/genética , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Triploidia , Transtornos Cromossômicos/epidemiologia , Feminino , Retardo do Crescimento Fetal/genética , Testes Genéticos , Impressão Genômica , Humanos , Mola Hidatiforme/diagnóstico , Mola Hidatiforme/genética , Fenótipo , Gravidez , Diagnóstico Pré-Natal , Prevalência , Recidiva , Ultrassonografia Pré-NatalRESUMO
INTRODUCTION: Inborn errors of metabolism (IEM) also called metabolic diseases constitute a large and heterogenous group of disorders characterized by a failure of essential cellular functions. Antenatal manifestation of IEM is absent or nonspecific, which makes prenatal diagnosis challenging. Glutaric acidemia type 2 (GA2) is a rare metabolic disease clinically manifested in three different ways: neonatal-onset with congenital anomalies, neonatal-onset without congenital anomalies and late-onset. Neonatal forms are usually lethal. Congenital anomalies present on prenatal ultrasound as large, hyperechoic or cystic kidneys with reduced amniotic fluid volume. MATERIAL AND METHODS: We present a systematic literature review describing prenatal diagnosis of GA2 and a new prenatal case. RESULTS: Ten prenatally diagnosed cases of GA2 have been published to date, mainly based on biochemical methods. New case of GA2 was diagnosed using exome sequencing method. DISCUSSION: All prenatal cases from literature review had positive history of GA2 running in the family. In our study trio exome sequencing was performed in case of fetal hyperechoic kidneys without a history of GA2. Consequently, we were able to identify two novel pathogenic variants of the ETFDH gene and to indicate their parental origin. SUMMARY: Exome sequencing approach used in case of fetal hyperechoic kidneys allows to identify pathogenic variants without earlier knowledge of the precise genetic background of the disease. Hyperechoic, enlarged kidneys could be one of the clinical features of metabolic diseases. After exclusion of chromosomal abnormalities, urinary tract obstruction and intrauterine infections, glutaric acidemia type 2 and number of monogenic disorders should be consider.
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Erros Inatos do Metabolismo/genética , Deficiência Múltipla de Acil Coenzima A Desidrogenase/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Exoma , Feminino , Humanos , Recém-Nascido , Doenças Metabólicas , Erros Inatos do Metabolismo/diagnóstico , Deficiência Múltipla de Acil Coenzima A Desidrogenase/genética , Gravidez , Sequenciamento do ExomaRESUMO
OBJECTIVE: To analyse natural course and perinatal management in twin pregnancies discordant for digynic triploidy. CASE REPORT: We present five cases of twins discordant for digynic triploidy. Pregnancy outcome was known for three of them. In one case, premature rupture of membranes occurred at 20 gestational weeks and both fetuses were miscarried. In two other pregnancies healthy co-twins were born at term after the triploid fetuses demise at 28 and 37 weeks. No maternal complications were observed. CONCLUSION: Twin pregnancies discordant for triploidy poses a challenge for perinatal management. Expectant management should be considered in digynic triploid cases.
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Doenças em Gêmeos/genética , Gravidez de Gêmeos , Triploidia , Adulto , Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/embriologia , Feminino , Humanos , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Conduta ExpectanteRESUMO
INTRODUCTION: A key survival prognosis factor for patients treated for ovarian cancer is complete cytoreductive surgery where all macroscopic neoplastic implants, including enlarged metastatic lymph nodes, are removed. We presume that investigating the involvement of the lymphatic system can result in a more individualized approach to the treatment of ovarian cancer patients. The main aim of our study was to analyze the relationship between the presence, number and types of lymph node metastases and ovarian cancer patient prognosis. MATERIAL AND METHODS: We carried out a retrospective analysis of patients who underwent cytoreduction due to primary ovarian cancer, between 2010 and 2015. We analyzed the number of metastatic lymph nodes, the lymph node ratio defined as the ratio of the number of metastatic lymph nodes to the total number of lymph nodes removed, extracapsular involvement, and the histopathological pattern of metastases. RESULTS: The study group included 651 patients. Of these, 377 had lymphadenectomy, 144 presented with lymph node metastases, and 233 had no lymph node metastases. We also included a group of 274 patients who did not have lymphadenectomy. Patients with more than 4 metastatic lymph nodes and a lymph node ratio of ≥ 0.1 had significantly poorer overall survival. Extracapsular involvement had no relation to patient overall survival. Multivariant survival analysis indicated that a lymph node ratio of ≥ 0.1 was an independent predictor of poor survival. CONCLUSIONS: The analysis of lymph node metastases in ovarian cancer patients can have predictive value for patient overall survival.
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BACKGROUND: In clinical practice alterations in CA-125 concentration within normal range in patients with ovarian cancer after first-line treatment are common. Even minor increase in CA-125 concentration is associated with patients' anxiety and difficult interpretation and counselling for clinicians. The aim of this study was to evaluate the significance of CA-125 fluctuations within reference level in patients who suffered from ovarian cancer with complete response after first-line treatment. RESULTS: 168 patients with epithelial ovarian cancer, who achieved complete remission after first line treatment were enrolled in the study. CA-125 concentration assessment was carried out during follow up visits. The recurrence of the disease was diagnosed on the first appearance of symptoms: clinical, radiological or histopathological/cytological. PFS and 5-year survival rate was calculated with Kaplan-Meier plots. Statistical analysis was performed with SAS / STAT® 9.4 / 14.4, SAS Institute Inc., Cary, NC, USA, 2017. Median concentration of CA-125 after first-line therapy was 10 U/ml. Increasing CA-125 concentration by > 5 U/ml, 3 and 6 months after the treatment was associated with higher risk of relapse (HR = 7.6, p < 0.0001 and HR = 5.29, p < 0.0001 respectively). 5-year survival rate was significantly lower in patients with increased CA-125 by 5 U/ml, 3 and 6 months after therapy (56.79% vs 0 and 50.62% vs 15.55%). CONCLUSIONS: Increased concentration of CA-125 by > 5 U/ml within normal range, 3 and 6 months after treatment was unfavorable prognostic factor in ovarian cancer patients with complete response to primary therapy.
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Biomarcadores Tumorais/sangue , Antígeno Ca-125/sangue , Carcinoma Epitelial do Ovário/terapia , Proteínas de Membrana/sangue , Neoplasias Ovarianas/terapia , Regulação para Cima , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Epitelial do Ovário/sangue , Carcinoma Epitelial do Ovário/mortalidade , Feminino , Humanos , Estimativa de Kaplan-Meier , Pessoa de Meia-Idade , Gradação de Tumores , Neoplasias Ovarianas/sangue , Neoplasias Ovarianas/mortalidade , Prognóstico , Estudos Retrospectivos , Análise de Sobrevida , Resultado do Tratamento , Adulto JovemRESUMO
Air pollution is currently one of the greatest threats to global health. Polish cities are among the most heavily polluted in Europe. Due to air pollution 43,100 people die prematurely in Poland every year. However, these data do not take into account the health consequences of air pollution for unborn children. Thus, the aim of this study was to evaluate the effects of the fine particulate matter air pollution (less than 2.5 µm in diameter) on pregnancy outcomes. An analysis of pregnant women and their children was made using a questionnaire survey from a nationwide study conducted in 2017. Questionnaires from 1095 pregnant women and data from their medical records were collected. An analysis of air pollution in Poland was conducted using the air quality database maintained by the Chief Inspectorate for Environmental Protection in Poland. A higher concentration of PM2.5 was associated with a decrease in birth weight and a higher risk of low birthweight (i.e., <2500 g). We also observed lower APGAR scores. Thus, all possible efforts to reduce air pollution are critically needed.
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Poluentes Atmosféricos/efeitos adversos , Poluição do Ar/efeitos adversos , Peso ao Nascer/efeitos dos fármacos , Exposição Ambiental/efeitos adversos , Exposição Materna/efeitos adversos , Material Particulado/efeitos adversos , Adolescente , Adulto , Criança , Cidades , Europa (Continente)/epidemiologia , Feminino , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Masculino , Mães , Polônia/epidemiologia , Gravidez , Resultado da Gravidez/epidemiologia , Adulto JovemRESUMO
Changes that took place in Europe in the early 1990s had an impact on health-associated issues. They were an impulse for the changes in healthcare systems and, consequently, also for the changes in cancer control programmes. Those changes also had an effect on mortality rates due to cervical cancer (CC). Therefore, the aim of this study is to analyse CC mortality trends in east-central Europe after 1990. Data on deaths due to CC were retrieved from the WHO Mortality Database. Trends in east-central European countries between 1990 and 2017 were assessed using Joinpoint Regression Program software. CC mortality decreased in the majority of analysed countries. However, an increase was observed in Latvia and Bulgaria. Despite decreasing mortality in the majority of the analysed countries, significant differences were observed. In order to improve the epidemiological situation, effective early detection programmes for cervical cancer ought to be rearranged and based not only on pap smears but also on molecular methods, as well as on introducing widespread programmes of vaccination against HPV.
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Neoplasias do Colo do Útero , Adolescente , Adulto , Idoso , Bulgária , Europa (Continente)/epidemiologia , Europa Oriental , Feminino , Humanos , Letônia , Pessoa de Meia-Idade , Mortalidade , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/mortalidade , Adulto JovemRESUMO
Triploidy is a genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric) or maternal (digynic) origin. Diandric cases, opposite to digynic ones, may lead to gestational trophoblastic neoplasia (GTN) or generate maternal complications, therefore their identification is crucial, but reproducibility of traditionally used histopathological assessment is poor. The aim of the study was to analyse the usefulness of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) with probes for two differentially methylated regions (DMR) at chromosome 11p.15.5 for identification of the parental origin of triploidy. 84 triploid DNA samples were tested with MS-MLPA: 34 paternal cases (40.5%) and 50 maternal ones (59.5%) according to the reference results of QF-PCR. Methylation ratio (MR) was calculated. Reference values proposed by the MRC-Holland for diploid samples (MR 0.8-1.2) were used. The values outside these ranges were used to diagnose parental origin of triploidy-paternal (MR > 1.2) or maternal (MR < 0.8). The effectiveness of MS-MLPA was 94.0%. The mean MR in paternal triploidy was 1.7 (SD-0.25; n = 34) compared with 0.56 in maternal triploidy (SD-0.12; n = 50). MR values in paternal and maternal triploidy did not overlap. In five samples (6.0%) parental origin of triploidy could not be accurately established by MS-MLPA, probably due to the maternal cell contamination (MCC). MS-MLPA can be used as a convenient method for distinguishing between paternal and maternal triploidy without the necessity for parental samples testing. It enables adequate selection of the paternal triploid cases for follow up in order to exclude post-molar GTN.
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Cromossomos Humanos Par 11/genética , Metilação de DNA , Impressão Genômica , Síndrome de Klinefelter/genética , Reação em Cadeia da Polimerase Multiplex , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Transtornos dos Cromossomos Sexuais/genética , Triploidia , Trissomia/genética , Cariótipo XYY/genética , Aborto Espontâneo/genética , Amniocentese , Amostra da Vilosidade Coriônica , Cromossomos Humanos X/genética , Feminino , Idade Gestacional , Humanos , Masculino , Gravidez , Aberrações dos Cromossomos SexuaisRESUMO
PURPOSE: To evaluate the trends in prenatal diagnosis over 26 years in a tertiary referral hospital. METHODS: A retrospective analysis of invasive prenatal procedures performed between 1991 and 2016. Maternal characteristics, indications for invasive diagnosis, and percentage of abnormal karyotypes were compared between periods according to guidelines implemented nationally and locally. RESULTS: A total of 14,302 invasive prenatal procedures were performed. The proportion of invasive procedures performed for advanced maternal age, abnormal karyotype in a previous pregnancy, and maternal anxiety decreased from 71.1%, 17.8%, 8.9% in 1991 to 23.9%, 1.3%, and 2.3% in 2016 (OR 0.6, 0.8, and 0.9 for each 5 years, respectively; p < 0.001), while the proportion of invasive procedures performed for abnormal ultrasound increased from 2.2% in 1991 to 51.6% in 2016 (OR 1.9 for each 5 years; p < 0.001). Abnormal karyotype was found in 9.7%. The proportion of abnormal karyotypes increased significantly from 0.0% in 1991 to 15.7% in 2016 (OR 1.35 for each 5-year period; p < 0.001). The odds of abnormal karyotype increased after the implementation of the Ordinance of the Minister of Health in 2003 (OR 1.6), the National Prenatal Screening Program in 2007 (OR 2.2), and the in-house genetic counseling with combined first trimester screening in 2015 (OR 3.1). CONCLUSIONS: Significant changes in prenatal diagnosis led to a better selection of patients undergoing invasive prenatal procedures. The implementation of in-house genetic counseling was associated with an increased rate of the detection of abnormal karyotypes.
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Cariótipo Anormal , Aconselhamento Genético , Cariotipagem , Diagnóstico Pré-Natal , Adulto , Aneuploidia , Pré-Escolar , Feminino , Humanos , Cariotipagem/normas , Idade Materna , Polônia/epidemiologia , Gravidez , Primeiro Trimestre da Gravidez , Centros de Atenção TerciáriaRESUMO
OBJECTIVES: Retroperitoneal lymph nodes metastases occur frequently in patients with ovarian cancer. Lymphadenectomy increases risk of perioperative complications. In clinical practice to reduce rate of complications aortocaval lymphadenectomy is omitted and solely resection of pelvic lymph nodes is performed. To establish factors affecting metastases to pelvic lymph nodes in advanced ovarian cancer. MATERIAL AND METHODS: A retrospective study among patients with serous advanced ovarian cancer (FIGO IIIB-IVB) was conducted at the 1st Department of Obstetrics and Gynecology, Medical University of Warsaw and Department of Gynecologic Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw. All patients underwent surgical treatment including pelvic lymphadenectomy between 2014 and 2017. Data including age, body mass index (BMI), pretreatment CA125 serum level, tumor volume, grading, one-/both-sided tumor, menopausal status, ascites were analysed as possible factors influencing the pelvic lymph nodes involvement. The statistical analysis was performed with Python software. RESULTS: 87 consecutive patients were eligible for the study. Metastases to pelvic lymph nodes were found in 29 (33.33%) patients. Pretreatment serum CA-125 concentration (652 U/mL vs 360.9 U/mL, p < 0.05) and high grade histology corresponded with pelvic nodal involvement. CONCLUSIONS: The knowledge of factors influencing metastases to pelvic lymph nodes may help clinicians in proper counselling and tailoring of therapy.
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Cistadenocarcinoma Seroso/cirurgia , Linfonodos/patologia , Recidiva Local de Neoplasia/cirurgia , Neoplasias Ovarianas/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Antígeno Ca-125/sangue , Cistadenocarcinoma Seroso/sangue , Cistadenocarcinoma Seroso/secundário , Feminino , Humanos , Excisão de Linfonodo , Metástase Linfática , Proteínas de Membrana/sangue , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/sangue , Recidiva Local de Neoplasia/secundário , Estadiamento de Neoplasias , Neoplasias Ovarianas/sangue , Neoplasias Ovarianas/patologia , Pelve , Estudos RetrospectivosRESUMO
OBJECTIVES: To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed cephalocele. METHODS: A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed between 2006 and 2018 in a tertiary referral hospital along with a systematic literature search in the PubMed database on fetuses with prenatally diagnosed cephalocele. RESULTS: Twenty-one out of 36 fetuses were found to have additional structural anomalies (58.3%). In four fetuses, anomalies were consistent with limb-body wall complex, in five with Meckel-Gruber syndrome, and in one with amniotic band syndrome. Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic variant in gene CC2D2A). Twenty-eight pregnancies were terminated (77.8%; 28/36); two were miscarried (5.6%; 2/36). All six children from pregnancies that continued were liveborn but only two survived the surgery and developed neurological sequence. Overall survival rate was 25% (2/8) with 0% intact survival. CONCLUSIONS: Additional structural anomalies are common in fetuses with cephalocele. A significant number of fetuses have genetic abnormalities, and a detailed genetic testing should be performed in all cases. The prognosis is poor with high mortality rate and 0% intact survival.
Assuntos
Anormalidades Múltiplas/diagnóstico , Síndrome de Bandas Amnióticas/diagnóstico , Transtornos da Motilidade Ciliar/diagnóstico , Encefalocele/diagnóstico por imagem , Doenças Renais Policísticas/diagnóstico , Retinose Pigmentar/diagnóstico , Trissomia/diagnóstico , Anormalidades Múltiplas/genética , Aborto Induzido , Aborto Espontâneo , Síndrome de Bandas Amnióticas/genética , Deleção Cromossômica , Duplicação Cromossômica , Cromossomos Humanos Par 16 , Cromossomos Humanos Par 22 , Cromossomos Humanos Par 6 , Transtornos da Motilidade Ciliar/genética , Estudos de Coortes , Proteínas do Citoesqueleto/genética , Encefalocele/diagnóstico , Encefalocele/genética , Feminino , Humanos , Recém-Nascido , Masculino , Morte Perinatal , Doenças Renais Policísticas/genética , Gravidez , Retinose Pigmentar/genética , Estudos Retrospectivos , Trissomia/genética , Ultrassonografia Pré-NatalRESUMO
AIM: Endometrial biopsy is one of the most commonly performed gynecological procedures. Apart from patient safety, the most important is to obtain an adequate specimen allowing histopathological diagnosis. The aim of the study was to determine the rate of endometrial sampling failure and factors affecting the quality of specimen obtained for histopathological examination among patients who underwent Pipelle biopsy and dilatation and curettage (D&C). METHODS: Patients who underwent endometrial biopsy (Pipelle, D&C) at the 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, between June 2013 and July 2017, were included in the study. The influence of menopausal status, body mass index, obstetric history, endometrial thickness, indications for the biopsy and doctors' experience were analyzed with regard to the effectiveness of the procedure. RESULTS: Overall, 895 endometrial sampling procedures were performed. Three hundred and thirty-nine (37.9%) patients underwent Pipelle biopsy, while 556 (62.1%) had D&C. Insufficient samples were found in 60 (17.3%) and 88 (15.8%) patients, respectively. Age, menopausal status and indications were factors affecting both procedures, while the number of previous vaginal deliveries, body mass index and endometrial thickness influenced the effectiveness of Pipelle biopsy. Doctors' experience did not influence the specimen adequacy. CONCLUSION: None of the methods guarantee obtaining adequate specimens. D&C might be preferred in postmenopausal women. The effectiveness of both procedures is independent of doctors' experience.