RESUMEN
Pulmonary hypoplasia is one of main causes of neonatal mortality and morbidity in patients with congenital diaphragmatic hernia. With most cases diagnosed prenatally, the emphasis is put on prediction of the severity of this defect. Several attempts are made to reduce the mortality and provide optimal prenatal and postnatal care. Appropriate estimation of risk of pulmonary hypoplasia also provides an important inclusion criterion for prenatal intervention. The main tool used for the detection and prediction of pulmonary hypoplasia is ultrasound, with an increasing number of available formulas to estimate the risk of occurrence of this phenomenon and complication associated with it. For most of the formulas used in this measurement method, the main limitations are either gestational-age dependency or limited research. Other imaging methods used to assess the risk of pulmonary hypoplasia involve magnetic resonance imaging and vascular assessment of affected lungs. The limitation in these remains the limited accessibility. Currently, the most widely used indexes are observed-to-expected lungs-to-head ratio and presence of liver herniation. These are the 2 most commonly used measurement methods, as they are the basis for patient qualification for fetoscopic endoluminal tracheal occlusion. This article aims to review the evaluation of pulmonary hypoplasia or hypoplastic lung disease as an important determinant of clinical outcomes in infants with congenital diaphragmatic hernia. In this review, we emphasize the importance of early prenatal diagnosis of congenital diaphragmatic hernia and present a summary of different methods of prenatal risk assessment of lung hypoplasia in congenital diaphragmatic hernia.
Asunto(s)
Hernias Diafragmáticas Congénitas , Embarazo , Femenino , Recién Nacido , Humanos , Hernias Diafragmáticas Congénitas/diagnóstico por imagen , Hernias Diafragmáticas Congénitas/patología , Diagnóstico Prenatal/métodos , Pulmón/patología , Fetoscopía/métodos , Hernia , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Fetuses whose mothers have produced antibodies to red blood cell (RBC) or platelet antigens are at risk of being affected by hemolytic disease or alloimmune thrombocytopenia, respectively, only if they inherit the incompatible antigen. Noninvasive diagnosis of the fetal antigen is employed for management of immunized pregnancies, but the specific detection of SNPs, encoding the majority of antigens, in maternal plasma is still a challenge. We applied targeted next-generation sequencing (NGS) to predict the fetal antigen based on the detection of fetomaternal chimerism. METHODS AND MATERIALS: The DNA of 13 pregnant women (with anti-K [3] anti-k [1], anti-Fya [1], anti-D + C + Jka [1], anti-D + E + K [1], anti-HPA-1a [1], anti-HPA-3b [1], anti-HPA-5b [1], and nonimmunized [3]) was sequenced using primers for regions encoding RhD, RhC, Rhc, RhE/e, K/k, Fya/b, Jka/b, MN, Ss, and HPA-1, 2, 3, 5, 15, 4 X-polymorphisms on the Ion Torrent Personal Genome Machine (PGM) System (Thermo Fisher Scientific, Inc., Waltham, MA, USA). RESULTS: NGS results were in agreement with the phenotype/genotype of women and their neonates (except for the unsuccessful detection of MN and RhC). NGS determined fetal allele chimerism for K, k, Fya, Fyb, Jka, Jkb, S, RhE (from 0.42% to 6.08%); RhD, Rhc (100%); HPA-1a, -2b, -3a, 3b, -5b, -15a, 15b (from 0.23% to 4.11%). NGS revealed fetal chimerism for incompatible antigens (from 0.7% to 4.8%) in 7 immunized cases, excluded in 3 (with anti-K, anti-Fya , anti-HPA-3b). CONCLUSION: The designed NGS predicts the fetal RBC and platelet antigen status universally in cases with various clinically significant antibodies as well as providing confirmation of the presence of fetal DNA. However, some improvement of the unsuccessful primers is required.
Asunto(s)
Antígenos de Grupos Sanguíneos/genética , Antígenos de Grupos Sanguíneos/inmunología , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Plaquetas/inmunología , Plaquetas/metabolismo , Eritroblastosis Fetal/genética , Eritroblastosis Fetal/inmunología , Eritrocitos/inmunología , Eritrocitos/metabolismo , Femenino , Sangre Fetal , Genotipo , Humanos , Recién Nacido , Embarazo , Trombocitopenia Neonatal Aloinmune/genética , Trombocitopenia Neonatal Aloinmune/inmunologíaRESUMEN
Objective To evaluate the impact of atosiban as a tocolytic agent in patients treated with the fetoscopic endotracheal occlusion (FETO) procedure due to congenital diaphragmatic hernia (CDH). As premature birth after fetoscopy remains a serious concern, an effort to reduce prematurity is required. Methods A total of 43 patients with severe CDH treated with FETO were enrolled in this study. The study group consisted of 22 patients who received atosiban during the FETO procedure and a control group of 21 patients who did not receive atosiban during the FETO procedure. Demographic data, gestational age (GA) at delivery, cervical length and GA at premature rupture of membranes (PROM) were evaluated. Results The GA at delivery was significantly different between the two groups studied. The median GA at delivery was 32.6 and 34.5 weeks in the no-atosiban vs. atosiban groups, respectively (P = 0.013). The median cervical length was 29.9 and 31.2 mm for the no-atosiban and atosiban groups, respectively, and was not statistically significant (P = 0.28). There were no significant correlations between groups for the occurrence of PROM, GA at the time of PROM, duration of the procedures, parity, maternal body mass index (BMI) or age. In the univariate linear regression model, the only factor independently associated with GA at delivery was the use of atosiban during FETO procedures (ß = 0.375; P < 0.013). Conclusion In cases of severe CDH treated with FETO, the use of atosiban as a tocolytic agent during the procedure prolonged pregnancy by 2 weeks. Cervical length, duration of FETO or maternal characteristics were not associated with GA at delivery.
Asunto(s)
Fetoscopía/métodos , Hernias Diafragmáticas Congénitas/cirugía , Nacimiento Prematuro/prevención & control , Tocolíticos/uso terapéutico , Vasotocina/análogos & derivados , Adulto , Femenino , Fetoscopía/efectos adversos , Estudios de Seguimiento , Edad Gestacional , Humanos , Recién Nacido , Modelos Lineales , Embarazo , Nacimiento Prematuro/etiología , Estudios Retrospectivos , Resultado del Tratamiento , Vasotocina/uso terapéuticoRESUMEN
OBJECTIVE: To evaluate the impact of cervical length and cervical pessary application in congenital diaphragmatic hernia (CDH) treated by the fetoscopic endotracheal occlusion (FETO) procedure. METHODS: The study group consisted of 80 patients with severe CDH treated by FETO. Cervical length measurement was performed by transvaginal ultrasound in all patients within the 24 h prior to the FETO procedure. The study group (n = 44) had cervical pessaries applied routinely within the 24 h following the FETO procedure, whereas the control group (n = 36) were not offered pessaries and only had cervical length measurement performed. RESULTS: The median cervical length was 31 (range 22-45) mm. The median gestational age at delivery was 34.7 (range 27.8-39.2) weeks. Gestational age at delivery correlated significantly with gestational age at balloon removal (r = 0.768; p < 0.0001) and premature rupture of membranes (r = 0.501; p = 0.003). There was no significant correlation between gestational age at delivery and cervical length before the procedure (r = 0.141; p = 0.26) or pessary application (r = 0.081; p = 0.51). In the multivariate linear regression model, the only factor independently associated with gestational age at delivery was gestational age at fetoscopic balloon removal (ß = 0.713; p < 0.0001). CONCLUSION: In cases of severe CDH treated by the FETO procedure, neither cervical length before the procedure nor cervical pessary application was associated with gestational age at delivery.
Asunto(s)
Medición de Longitud Cervical , Fetoscopía , Hernias Diafragmáticas Congénitas/cirugía , Pesarios , Femenino , Rotura Prematura de Membranas Fetales/prevención & control , Edad Gestacional , Humanos , Modelos Lineales , Análisis Multivariante , Embarazo , Nacimiento Prematuro/prevención & controlRESUMEN
n/a.
Asunto(s)
Acrocefalosindactilia/diagnóstico por imagen , Enfermedades Fetales/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Resultado Fatal , Femenino , Hernias Diafragmáticas Congénitas/diagnóstico por imagen , Humanos , Nacimiento Vivo , Embarazo , Diagnóstico Prenatal/métodosRESUMEN
OBJECTIVES: To assess the usefulness of SIS and to compare its diagnostic accuracy with conventional transvaginal ultrasound (TVS) and hysteroscopy (HSC) to detect intracavitary abnormalities in peri- and postmenopausal women with abnormal endometrial appearance or abnormal uterine bleeding (AUB) prior to admission. DESIGN AND SETTING: The study group consisted of 40 patients in peri- and postmenopausal period referred to the 1st Department of Obstetrics and Gynecology, Medical University of Warsaw due to AUB or abnormal endometrial appearance on TVS between January 2013 and June 2013. All the participants underwent TVS followed by SIS in order to plan further management. Only the patients with uterine abnormalities on TVS examination, proved by SIS were qualified for HSC. Hysteroscopical guided biopsies were taken in cases with focal lesions. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of TVS, SIS and HSC were calculated by comparison with the final pathological diagnosis as the gold standard. RESULTS: The comparison of the three diagnostic procedures revealed that the diagnostic accuracy of SIS and HSC is superior to conventional TVS. SIS and HSC had identical accuracy for submucosal myomas (PPV and NPV 1.0 for both), while in case of polypoid lesions the accuracy of HSC was higher than of SIS (HSC: PPV 0.8, NPV 1.0; SIS: PPV 0.75; NPV 0.75). CONCLUSIONS: Due to its accuracy and cost-effectiveness, SIS could be regarded as a primary diagnostic method allowing proper qualification for further invasive diagnostic or therapeutic procedures in the detection of uterine abnormalities among peri- and postmenopausal women.
Asunto(s)
Endometrio/diagnóstico por imagen , Perimenopausia , Posmenopausia , Ultrasonografía/normas , Hemorragia Uterina/diagnóstico por imagen , Anciano , Endosonografía/instrumentación , Endosonografía/métodos , Endosonografía/normas , Femenino , Humanos , Persona de Mediana Edad , Cloruro de Sodio , Ultrasonografía/instrumentación , Ultrasonografía/métodos , Ultrasonografía Intervencional/instrumentación , Ultrasonografía Intervencional/métodos , Ultrasonografía Intervencional/normasRESUMEN
BACKGROUND: Transfusion-related acute lung injury (TRALI) is a rare, but potentially fatal, complication of blood product transfusion, manifesting as acute respiratory distress syndrome. In most cases, TRALI is associated with massive transfusion of fresh frozen plasma and platelets. CASE REPORT: A 38-year-old-woman at 40 weeks gestation was admitted to hospital with spontaneous labor contractions. A cesarean section was performed due to feto-pelvic disproportion and a male infant (Apgar 10) was delivered. After 37 hours low hemoglobin level and growing subfascial hematoma were detected. Urgent relaparotomy was carried out. The blood loss was over 1500 ml and a massive transfusion (6 units of red cell concentrate, 8 units of fresh frozen plasma and 6 units of cryoprecipitate) was necessary. The patient developed symptoms of acute respiratory distress 10 hours after relaparotomy. No pathological findings were shown in echocardiography and ECG. Chest CT revealed pulmonary edema. Low fibrinogen levels were observed in laboratory tests, decreasing in time after transfusion of the blood products to 1.0/L. Oxygen therapy with facial mask was initiated, furosemide was administered and continued for three days until symptom resolution. A series of hematological tests performed after the patient was discharged from hospital confirmed the diagnosis of TRALI and congenital hypofibrinogenemia. CONCLUSION: Congenital hypofibrinogenemia may be responsible for the development of subfascial hematoma, a complication of cesarean section, necessitating relaparotomy. The following massive transfusion of blood products resulted in a potentially fatal complication in a form of TRALI.
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Afibrinogenemia/congénito , Síndrome de Dificultad Respiratoria/etiología , Reacción a la Transfusión , Adulto , Afibrinogenemia/sangre , Afibrinogenemia/diagnóstico , Afibrinogenemia/etiología , Afibrinogenemia/terapia , Pérdida de Sangre Quirúrgica/prevención & control , Cesárea/efectos adversos , Femenino , Humanos , Lesión Pulmonar/etiología , Periodo Posparto , Embarazo , Síndrome de Dificultad Respiratoria/sangre , Síndrome de Dificultad Respiratoria/diagnóstico , Síndrome de Dificultad Respiratoria/terapiaRESUMEN
The occurrence of perineal endometriotic lesions can be explained by mechanical dissemination and transplantation of endometrial cells. Viable decidual endometrial cells are likely to be transplanted into the episiotomy wounds or perineal tears during normal vaginal delivery and subsequent growth may occur A case of a 33-year old woman with a medical history of recurrent perineal endometriosis was described. An endometriotic giant mass (8 centimeter in diameter) was wide-excised, together with the episiotomy scar. The recovery was uneventful. Three years after the surgery, the patient is symptom-free and with no signs of recurrence or discomfort. According to the literature and our own experience, a complete excision of endometriotic tissue is the treatment of choice. We can conclude that a wide excision is mandatory as it is the only way to prevent tumor recurrence.
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Cicatriz/cirugía , Endometriosis/diagnóstico , Episiotomía/métodos , Perineo/cirugía , Adulto , Endometriosis/patología , Femenino , Humanos , Perineo/patología , Resultado del TratamientoRESUMEN
Intrahepatic cholestasis during pregnancy is associated with a higher risk of prenatal and maternal complications. There are several new publications and guidelines on the detection and thresholds of intrahepatic cholestasis during pregnancy. However, the genetic background of this disease has rarely been investigated. This is a comprehensive review of the roles of genes in intrahepatic cholestasis during pregnancy.
Asunto(s)
Colestasis Intrahepática , Complicaciones del Embarazo , Embarazo , Femenino , Humanos , Complicaciones del Embarazo/etiología , Colestasis Intrahepática/diagnósticoRESUMEN
INTRODUCTION: Extreme levels of either PAPP-A or free ß-hCG may be a serious clinical concern. A multicentre study was carried out to determine the frequency and clinical consequences of high (minimum 2,0 MoM) maternal (PAPP)-A and free beta hCG. METHODS: A total number of 8591 patients with singleton pregnancies between 11 + 0-13 + 6 weeks of gestation were enrolled. A total number of 612 cases with first trimester serum level of PAPP-A corresponding to ≥ 2,0 MoM and/or free ß-hCG to ≥ 2,0 MoM were included in the statistical analysis. All serum samples were analysed with Roche (Cobas) or Kryptor (Brahms) devices. A retrospective analysis of perinatal outcomes was conducted. RESULTS: Values of PAPP-A ≥ 2,0 MoM and free ß-hCG < 2.0 MoM were detected in 48,5% of patients (n = 297), free ß-hCG ≥ 2,0 MoM and PAPP-A concentration < 2,0 MoM in 38,1% of patients (n = 233) and both PAPP-A and free ß-hCG ≥ 2,0 multiple of median in 13,4% of patients (n = 82). The highest PAPP-A and free ß-hCG concentrations were 19,2 MoM and 16,3 MoM respectively. Patients with both PAPP-A and free ß-hCG above 2,0 MoM had a slightly higher (but statistically not significant) prevalence of history of low birthweight (8,3%). DISCUSSION: Pregnancy outcomes in women with normal ultrasound findings and high PAPP-A /free ß-hCG concentration are good. Higher prevalence of pregnancy complications was not detected in either extremely high PAPP-A and free ß-hCG concentration groups. In cases of normal ultrasound and isolated high (even extreme) biochemical markers levels the counselling should be comforting.
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Gonadotropina Coriónica Humana de Subunidad beta , Proteína Plasmática A Asociada al Embarazo , Embarazo , Humanos , Femenino , Primer Trimestre del Embarazo , Proteína Plasmática A Asociada al Embarazo/análisis , Estudios Retrospectivos , Biomarcadores , Diagnóstico PrenatalRESUMEN
Splenic cysts in pregnancy are an extremely rare disorder and to date only seven such cases have been reported in literature. The consensus for the management of pregnant patients with splenic cysts is therefore yet to be established. A 25-year old nullipara with a large (10 cm in diameter) splenic cyst located in the upper pole and the hilum was qualified for surgery in the second trimester of pregnancy. Open total splenectomy was performed because of the central location and large diameter of the cyst. No complications were reported. The pathology report demonstrated secondary cyst (pseudocyst). The remaining antepartum course was uneventful and the patient spontaneously delivered a healthy baby at 39 weeks of pregnancy. We are of the opinion that splenic cysts should be operated on in the second trimester of pregnancy because of the risk of spontaneous rupture. Total splenectomy is a safe and effective procedure for centrally located large cysts.
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Quistes/diagnóstico por imagen , Quistes/cirugía , Complicaciones del Embarazo/diagnóstico por imagen , Complicaciones del Embarazo/cirugía , Enfermedades del Bazo/diagnóstico por imagen , Enfermedades del Bazo/cirugía , Adulto , Femenino , Humanos , Embarazo , Resultado del Embarazo , Esplenectomía/métodos , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVES: The hemolysis of red blood cells due to isoimmunisation results in fetal anaemia and hypoxia leading to fetal heart failure. An assessment of N-terminal pro-B-type natriuretic peptide (NT-proBNP) is a routine practice in adult heart failure. No studies on this marker have been reported in fetal heart failure. The aim of the current study was to investigate changes in fetal NT-proBNP serum concentrations before and after intrauterine transfusions and to assess its value as a marker of fetal heart failure. DESIGN: Therapy of Rh immunisations was performed in 14 fetuses with 61 intrauterine transfusions. Hemoglobin concentration, red blood cells count, hematocrit and NT-proBNP concentrations were assessed in samples taken before and after each transfusion. RESULTS: An increase in the concentrations of blood parameters was strongly correlated with a decrease in the concentration of NT-proBNP. NT-proBNP concentrations were the greatest with the smallest Hb (4.0-5.9 g/dl), hematocrit and red blood cell (RBC) concentrations, respectively. An increase in Hb concentration by 1mg/dl and the RBC count by 1M/µl resulted in a corresponding decrease in NT-proBNP concentration by 659.0 and 2 007.1 pg/ml, respectively. The NT-proBNP concentrations decreased significantly following 52 transfusions. CONCLUSIONS: The fetal serum concentration of NT-proBNP appears to be a satisfactory marker for heart failure in fetuses inflicted with severe anaemia caused by hemolytic disease. Intrauterine therapy decreases the severity of anaemia and reduces the fetal heart failure index. There appears to be a strong inverse correlation between the pre-transfusion NT-proBNP concentration and morphological parameters.
Asunto(s)
Transfusión de Sangre Intrauterina , Eritroblastosis Fetal/diagnóstico , Enfermedades Fetales/diagnóstico , Cardiopatías/diagnóstico , Péptido Natriurético Encefálico/sangre , Fragmentos de Péptidos/sangre , Anemia/sangre , Anemia/diagnóstico , Biomarcadores/sangre , Eritroblastosis Fetal/sangre , Eritroblastosis Fetal/terapia , Femenino , Enfermedades Fetales/sangre , Enfermedades Fetales/terapia , Cardiopatías/sangre , Cardiopatías/terapia , Humanos , Valor Predictivo de las Pruebas , Embarazo , Isoinmunización Rh/sangre , Globulina Inmune rho(D)/uso terapéuticoRESUMEN
Objective: To evaluate the accuracy of several ultrasound parameters used to predict neonatal survival in fetuses with isolated left-sided severe congenital diaphragmatic hernia. This study is to compare different measurement methods. Also, two new ultrasound parameters have been described: the lung growth ratio (LGR) and the lung growth index (LGI).Methods: This was a retrospective study in pregnancies with a congenital diaphragmatic hernia (CDH) treated by fetoscopic tracheal occlusion (FETO). Pictures revealing four-chamber view of the fetal heart were reviewed and the right lung area was remeasured with several techniques: anterior-posterior, longest diameter, and tracing method. Based on the measurements, different parameters were obtained: lung-to-head ratio (LHR) (anterior-posterior), LHR (longest diameter), LHR (tracing method), o/e LHR (longest diameter), quantitative lung index (QLI) (longest diameter), and QLI (tracing method). All measurements were taken at the time of balloon insertion and at the time of balloon removal. In order to describe and compare fetal lung size indices in terms of their value as predictors of neonatal survival, receiver operating characteristic (ROC) analysis was applied.Results: Lung-to-head ratio calculated at the time of balloon occlusion measured with the tracing method reached the most significant statistical difference (p < .01) and the best combination of sensitivity, specificity, and accuracy. Neither of the two new parameters (LGR and LGI) was better compared to previously described indices. Among all analyzed parameters, LHR measured with the tracing method at the time of balloon removal was the best predictor of neonatal survival.
RESUMEN
OBJECTIVE: Trans isomers of fatty acids (TFA) contain double bonds in their molecular structure with the trans configuration. Food products prominent for their TFA content include plant oils (margarine), mayonnaise, products baked with plant oils, and ready-made glazes and icings. The so-called fast foods and snacks (bars, chips) represent a significant source of TFA, particularly for children and youth. Considering the potentially atherogenic properties of TFA, this work was undertaken to determine the content of the principal monounsaturated TFA in some food products ubiquitous on the market, i.e. margarines and snacks. MATERIAL AND METHODS: We studied bars (Snickers, Mars, Twix), chips (Lay's, Snack, Cheetos), and margarines (Rama Classic, Rama Olivio, Vita, Flora, Finea, Delma, Masmix, Krówka, Smakowita with butter, Extra Pomorskie). The content of TFA was determined with gas chromatography. RESULTS: The highest content ofmonounsatured TFA among sweets was disclosed for the Twix bar (2.94 microg/g), while the lowest for Snickers (0.3 microg/g). Among margarines, the highest content of TFA was found for Smakowita with butter (87.6 microg/g), Krówka (46 microg/g), and Vita (38.7 microg/g), whereas the content was lowest in Finea (0.12 microg/g) and Delma (0.14 microg/g). In the case of chips, the content was highest for Cheetos (3.5 microg/g) and lowest for Snack (0.09 microg/g). CONCLUSIONS: The content of atherogenic TFA in common food products varies widely. In some cases, the content of TFA is considerable and unjustly undisclosed by manufacturers. Promotion of these products should include information in respect of TFA. This conclusion is of particular importance considering the significance of these products in the diet of children and youth.