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La clorhidrorrea congénita es un trastorno genético infrecuente pero importante caracterizado por una alteración grave del balance hidroelectrolítico como resultado de un defecto en la absorción intestinal de cloruros. Los niños afectados presentan diarrea persistente, deshidratación y malnutrición; el control médico y del desarrollo son complejos. Mejorar la detección prenatal es esencial para facilitar la atención del paciente, las intervenciones tempranas y el asesoramiento genético informado. Sin embargo, a pesar de los avances de la medicina, la naturaleza compleja y la escasa frecuencia de esta entidad, constituyen un desafío para la detección prenatal. En este estudio, se reporta el caso de una embarazada donde los estudios por imágenes de resonancia magnética fetales identificaron en forma efectiva las características típicas de la clorhidrorrea congénita. Se proveen conocimientos sobre las complejidades del diagnóstico y se sugieren caminos para las estrategias de detección temprana de esta enfermedad.
Congenital chloride diarrhea (CCD) is a rare but significant genetic disorder characterized by severe electrolyte imbalances resulting from impaired intestinal chloride absorption. Affected children experience persistent diarrhea, dehydration, and malnutrition, complicating medical and developmental care. The enhancement of prenatal detection is crucial for improved patient management, early interventions, and informed genetic counseling. However, despite advancements in medicine, the complex nature and rarity of CCD make prenatal detection challenging. In this study, we report a fetal case where prenatal magnetic resonance imaging (MRI) effectively identified the distinctive characteristics of CCD, providing insights into the complexities of diagnosis and suggesting avenues for enhanced early detection strategies.
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Humanos , Femenino , Embarazo , Diagnóstico Prenatal/métodos , Diarrea/congénito , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/genética , Diarrea/etiología , Asesoramiento GenéticoRESUMEN
SUMMARY OBJECTIVE: The aim of this study was to compare pregnancy outcomes of patients with polyhydramnios due to late-onset gestational diabetes mellitus and patients with isolated polyhydramnios. METHODS: Of the women who fully participated in prenatal examinations at Etlik Lady Zübeyde Hospital between January 1, 2018, and December 31, 2019, women with polyhydramnios of nonfetal-placental origin manifesting in the third trimester were retrospectively reviewed. Women with normal 75-g oral glucose tolerance test results between 24 and 28 weeks gestation who met the inclusion criteria were enrolled in the study and divided into two groups based on the results of rescreening with the 75-g oral glucose tolerance test for polyhydramnios in the third trimester: women with isolated polyhydramnios (group 1) and women with late-onset polyhydramnios due to gestational diabetes mellitus (group 2). RESULTS: There were a total of 295 participants, of whom 35 (11.8%) were diagnosed with polyhydramnios due to late-onset gestational diabetes mellitus. There were no differences in the main outcomes. Birthweight and gestational age at birth were identified as independent risk factors for predicting composite maternal outcome {[odds ratio (OR)=1.273, 95% confidence interval (CI) 1.063-1.524, p=0.009]} and composite neonatal outcome (OR=0.606, CI 0.494-0.744, p<0.001), respectively. CONCLUSION: Polyhydramnios in late pregnancy without evidence of pregnancy-related causes leading to polyhydramnios may be a sign of late-onset gestational diabetes mellitus in women with a normal prior oral glucose tolerance test. As pregnancy outcomes and management were indifferent, it does not seem necessary or useful to diagnose whether or not late-onset gestational diabetes mellitus is present.
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Background: Gestational diabetes mellitus (GDM) is one of the most common complications of pregnancy and associated with adverse outcomes of pregnancy for mother and baby. GDM exposes fetus to hyperglycemia and it leads to macrosomia, birth trauma, shoulder dystocia, neonatal hypoglycemia, hyperbilirubinemia, hypocalcemia, polycythemia, and respiratory distress syndrome. Aim and Objectives: The objective of this study is to analyze maternal and neonatal outcomes of pregnancy in women with GDM. Materials and Methods: This study was carried out prospectively in the department of obstetrics and gynecology, tertiary care hospital, Gujarat, over a period of December 2020–December 2021. Total 104 patients were diagnosed with GDM and included in this study. Exclusion criteria include pregnant women with pre-existing diabetes, pregnancy with more than one fetus, other chronic disease, still birth, on medication that might affect glucose metabolism (steroids, anti-psychotic medications, etc.), not willing to participate. A detailed history of all patients was taken. Results: Out of 990 patients, 104 (10.5%) pregnant women were found to have GDM. Adverse maternal outcomes were polyhydramnios (38.4%), antepartum haemorrhage (1.9%), postpartum hemorrhage (4.8%), sepsis (1.9%), wound infection (1.9%), and urinary tract infection (10.6%). Most common neonatal complication was hypoglycemia (29.8%), prematurity (16.3%), and macrosomia (10.5%). Conclusion: The increasing prevalence of risk factors related to GDM; it is likely that GDM in pregnant women will give adverse outcomes. The antenatal screening for GDM is key for early diagnosis and treatment during antennal visit and that will improve maternal and fetal outcome. Management of GDM can prevent development of future diabetes mellitus in women.
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Abstract Introduction: Bartter's syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter's syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter's syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter's syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.
Resumo Introdução: a síndrome de Bartter inclui um grupo heterogéneo de tubulopatias hereditárias perdedoras de sal. Existem duas formas de apresentação clínica: clássica e neonatal, a forma mais grave. Os tipo I e II representam a maioria dos casos neonatais. Os tipos III e V são geralmente menos graves. Caracteristicamente, a síndrome de Bartter tipo IV é uma nefropatia perdedora de sal com sintomas neonatais ligeiros a graves, com um aspeto especí- fico - surdez neurossensorial. A síndrome de Bartter tipo IV é o tipo menos comum das formas recessivas da doença. Descrição: relatamos o primeiro caso de uma criança portuguesa, com surdez neurossensorial, poliúria, polidipsia e restrição de crescimento, nascida prematuramente devido a polihidrâmnios grave, homozigótica para a mutação G47R do gene BSND, responsável pela síndrome de Bartter tipo IV. Discussão: são raros os casos publicados sobre síndrome de Bartter tipo IV atribuída a esta mutação, e a maioria referem-se a diagnósticos mais tardios, com manifestações clínicas ligeiras. A fraca correlação fenótipo-genótipo combinada com a raridade desta síndrome tornam o diagnóstico pré-natal desafiante. Perante um caso de polihidrâmnios grave em um feto sem malformações aparentes, cariótipo normal e após exclusão de patologia materna, as doenças autossómicas recessivas, incluindo as tubulopatias, devem ser sempre consideradas.
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Humanos , Femenino , Embarazo , Recién Nacido , Adulto , Diagnóstico Prenatal , Síndrome de Bartter/fisiopatología , Síndrome de Bartter/genética , Polihidramnios/diagnóstico , Polihidramnios/etiología , Complicaciones del Embarazo , Tercer Trimestre del Embarazo , Pérdida Auditiva Sensorineural/genética , Trabajo de Parto PrematuroRESUMEN
Background: Amniotic fluid plays a vital role during foetal life. The main purpose of this study was to evaluate the foetomaternal outcome in relation to amniotic fluid index in pregnant females beyond 36 weeks of gestation.Methods: This prospective type of study was conducted for one-year duration from May 2018 to May 2019 in 350 pregnant females beyond 36 weeks of gestation with clinically significant abnormal liquor volume. Clinical diagnosis was later on confirmed with ultrasonography and patients were categorized in three categories as patients with Amniotic fluid index (AFI) 5 to 24, AFI <5 and AFI > or = 25. Complete labour record was made and fetomaternal outcome was assessed.Results: In this study, incidence of oligohydramnios was found to be more than polyhydramnios at term. No significant differences were found in relation to age, parity, religion, residence and booking status in all the study groups. Mostly patients 119 (52%) delivered by caesarean section in oligohydramnios group whereas vaginal delivery was commonly seen in patients with normal AFI (80%) and polyhydramnios (55%). Growth restriction 59 (26%) and malpresentation 18 (8%) were commonly seen with oligohydramnios. In the polyhydramnios group, 14 (35%) babies had malformations whereas only 6 (3%) babies had malformations in patients with oligohydramnios. Significant differences were found in the foetal outcome between the patients with oligohydramnios and polyhydramnios in comparison to patients with normal AFI.Conclusions: In pregnant females with abnormal liquor volume increases the chances of maternal morbidity and perinatal morbidity and mortality.
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Background: Gestational diabetes mellitus poses numerous health problems for both mother and the fetus. Even though there are improved outcomes, complications of gestational diabetes still persists. Objectives of this study was to find out the maternal and perinatal outcomes in gestational diabetes mellitus.Methods: This study was done among pregnant women attending antenatal outpatient department at Sree Mookambika Institute of Medical Sciences, Kulasekharam. oral glucose tolerance test was done at between 24 to 28 weeks and the values more than their cutoff was labelled as gestational diabetes and their outcome was measured as complications during antenatal period, mode of delivery and perinatal outcome in view of neonatal intensive care unit admissions due to hyperbilirubinemia and respiratory distress syndrome.Results: Out of 500 antenatal mothers 65 were found to have gestational diabetes which is approximately 13%. Obstetric outcomes were 10% of them developed pregnancy induced hypertension, 12% of them ended in preterm labour and polyhydramnios in 2%. Delivery by caesarean section and vaginal route is almost similar. Maximum number of neonatal intensive care admissions are due to hyperbilirubinemia followed by respiratory distress.Conclusions: Screening for gestational diabetes and adequate glycemic control is necessary in preventing short term and long-term complications.
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Background: Polyhydramnios is the term for abnormalincrease in the amniotic fluid. With better facilities for detailedinvestigation of mother and fetus, more causative factors canbe identified and this helps in the counseling of parentsregarding etiology of polyhydramnios, fetal prognosis,recurrence risk and different management options for the babyif it needs medical & surgical care after birth. The aim of thisstudy to find out the perinatal and maternal outcome in patientswith polyhydramnios.Material & Methods: This is a prospective study done on 100unselected pregnancies attending the antenatal clinic inDepartment of Obstetrics and Gynecology department of RNTMedical College Udaipur. All patients attending ANC wereasked to participate at the time of booking (between 16 to 20weeks gestation) and were subjected to USG to rule outcongenital anomalies. We than investigated the relative risks ofthese events to adverse perinatal outcome by adjusting thevariants.Results: In our study, there were 30% preterm deliveries, 4%cases have small for gestational age babies, 5% had large forgestational age babies, 10% had meconium for which they hademergency caesarean section, 16% cases were admitted inNICU , for respiratory distress syndrome and prematurity. 45%of the patient had anemia, 12% were Rh negative while 43%had no associated abnormality. There were many perinatalcomplications. Out of them preterm birth was the mostcommon complication.Conclusion: We concluded that PPROM, Preterm labor andPPH were the major maternal complications during pregnancy.Polyhydramnios is associated with high perinatal mortality rate
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Background: Amniotic fluid is vital to the well-being of the fetus. Severe oligohydramnios and polyhydramnios are associated with increased maternal morbidity and perinatal morbidity and mortality.Methods: This was prospective observational study conducted at tertiary teaching institute from July 2012 to July 2013. Total 200 patients were included in the study. On the basis of amniotic fluid index (AFI), patients were categorized in 3 groups, Normal AFI (8-24 cm), oligohydramnios (AFI <5cm) and polyhydramnios (AFI > = 25 cm). Results were analysed in the form of incidence, mode of delivery and perinatal outcome which includes preterm, low birth weight, still births, NICU admissions and neonatal deaths in all the 3 groups.Results: Out of 200 patients, there was 150 cases of normal AFI, 39 cases of oligohydramnios and 11 cases of polyhydramnios. Incidence of oligohydramnios was 4.1% and polyhydramnios was 1.1%. PIH was the most common etiological factor found in oligohydramnios (30.7%) and in polyhydramnios congenital anomalies (36.3%) followed by idiopathic cause (27.2%) was most common. Incidence of caesarean section was 58.9% in oligohydarmnios and 17.3% in normal AFI group. Incidence of NICU admission was 25.6% in oligohydramnios and 50% in polyhydramnios group in comparison to 9.3% in normal AFI group.Conclusions: Amniotic fluid index is an important part of antepartum fetal surveillance. Abnormalities of AFI are associated with high perinatal morbidity and mortality and maternal morbidity.
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Background: Estimation of HbA1c in gestational diabetes mellitus patients is not being recommended by any societies/guidelines as studies regarding the role of HbA1c for monitoring of euglycemic control and predicting the maternal and perinatal outcomes in GDM patients (unlike overt diabetes) are conflicting and sparse.Methods: This was a prospective study with an aim to evaluate the role of HbA1c estimation in late pregnancy (early and late third trimester) for prediction of pregnancy outcomes in GDM patients. 53 patients with GDM (diagnosed before third trimester) were recruited for the study. HbA1c levels were estimated in late pregnancy (at 28-32 weeks and again repeated at 37 - 39 weeks or at the time of delivery). Correlation of HbA1c levels in third trimester with maternal and perinatal outcome was studied in patients with gestational diabetes mellitus and cut off taken was 5.8%.Results: Of the total 53 patients 54.7% had HbA1c levels <5.8% and 45.3% had HbA1c ≥5.8% done at 28-32 weeks. Also when HbA1c levels done at 37-39 weeks POG/ at the time of delivery, 52.8% patients had <5.8% and 47.2% had HbA1c ≥5.8%. Approximately one-fourth of the patients had HbA1c ≥ 5.8% even with normal blood sugar levels (euglycemic) control. There was statistically significant increased incidence of polyhydramnios, LGA (large for gestational age babies) and increased mean birth weight in patients with HbA1c ≥ 5.8%, done in late pregnancy. However there was no statistically significant difference in the incidence of preterm labour, gestational hypertension or preeclampsia, urinary tract infections, vulvovaginal infections, caesarean deliveries and postpartum haemorrhage in patients with HbA1c ≥5.8% compared to patients with HbA1c <5.8%.Conclusions: The study revealed that in patients of GDM with HbA1c levels ≥5.8% done in third trimester was statistically significantly associated with increased incidence of polyhydramnios, large for gestational age babies and increased mean birth weight when compared to patients with HbA1c <5.8%.
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INTRODUCCIÓN: Síndrome de Bartter (SB) es una tubulopatía hereditaria, poco frecuente que tiene dos formas de presentación, forma grave de inicio antenatal (Bartter neonatal) y forma de aparición más tardía (Bartter clásico). En su forma antenatal se manifiesta con poliuria fetal, polihidroamnios de inicio precoz y severo, parto prematuro secundario y restricción de crecimiento intrauterino. La etapa postnatal presenta episodios recurrentes de deshidratación y desbalance electrolítico que pue den comprometer la sobrevida del paciente. OBJETIVO: Comunicar un caso de SB neonatal y presentar una revisión de la literatura en esta patología. CASO CLÍNICO: Prematuro 35 semanas, con antecedente de severo polihidroamnios diagnosticado a las 27 semanas de gestación, sin causa aparente. Desde su nacimiento evolucionó con poliuria y alcalosis metabólica hipokalémica haciendo plantear, en primera semana de vida, diagnóstico de Síndrome de Bartter neonatal. El laboratorio confirmó per didas urinarias de electrólitos. Fue manejado con balance hídrico estricto y suplementación de sodio y potasio, logrando estabilizar peso y desbalance electrolítico. Se mantiene en control nefrológico, con suplementación de gluconato de potasio y cloruro de sodio. Se agregó ibuprofeno al cuarto mes como parte del tratamiento. Al séptimo mes de vida, ecografía renal demostró nefrocalcinosis. Al año de vida se evidenció hipoacusia sensorioneural profunda requiriendo implante coclear. CONCLUSIÓN: Presencia de polihidroamnios severo de aparición temprana sin causa identificada debe hacer sospechar SB, que aun siendo infrecuente determina graves alteraciones hidroelectrolíticas y debe ser iniciado su tratamiento precozmente.
INTRODUCTION: Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set form during the first years of life (classic Bartter). In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. In the postnatal stage, it presents recurrent episodes of dehydration and electrolyte im balance that can compromise the survival of the patient. OBJECTIVE: To report a clinical case of neo natal BS and a review of the literature. CLINICAL CASE: Premature newborn of 35 weeks of gestation with history of severe polyhydramnios diagnosed at 27 weeks of gestation, without apparent cause. From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electrolyte losses. The patient was treated with strict water balance and sodium and potassium supplementa tion, achieving weight and electrolyte imbalance stabilization. The patient remains in control in the nephrology unit, with potassium gluconate and sodium chloride supplementation. At the fourth month, ibuprofen was added as part of treatment. At the seventh month of life, renal ultrasound showed nephrocalcinosis. At one year of life, profound sensorineural hearing loss was observed re quiring a cochlear implant. CONCLUSION: The presence of severe polyhydramnios of early onset with no identified cause should lead to suspicion of neonatal BS which even when infrequent determines severe hydroelectrolytic alterations and should be treated early.
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Humanos , Femenino , Embarazo , Recién Nacido , Lactante , Adulto , Síndrome de Bartter/diagnóstico , Polihidramnios/diagnóstico , Síndrome de Bartter/fisiopatología , Síndrome de Bartter/terapia , Ibuprofeno/administración & dosificación , Polihidramnios/etiología , Pérdida Auditiva Sensorineural/cirugía , Pérdida Auditiva Sensorineural/diagnóstico , Nefrocalcinosis/diagnóstico , Nefrocalcinosis/etiologíaRESUMEN
Objetivo: Determinar la asociación entre indicadores clínico epidemiológicos materno - fetales y la presencia de atonía uterina en puérperas post cesárea primaria en la clínica privada durante el período de Agosto 2017 Agosto 2018. Métodos: Se realizó un estudio observacional, analítico, retrospectivo y cuantitativo, tipo casos y controles. La variable dependiente fue la atonía uterina, y las variables independientes fueron edad materna, gestación múltiple, polihidramnios, gestación, paridad, anemia materna, enfermedades concomitantes, peso fetal, presentación fetal e indicación de cesárea. La población estuvo conformada por 106 casos y 212 controles (ratio 2:1). Para la estadística inferencial se utilizó el análisis bivariado para hallar los Odds Ratio, intervalos de confianza al 95%. Se consideró a los valores p<0,05 como estadísticamente significativos. Resultados: De los 318 pacientes del estudio, la media de la edad fue de 30,87 ± 0,298 años, de los controles fue de 28 ± 0,423 años mientras que de los casos 33 ± 0,168 años. Las variables asociadas en el análisis bivariado a atonía uterina fueron la edad mayor de 30 años, gestación múltiple, polihidramnios, bajo peso al nacer y macrosomía. Mientras que en análisis multivariado fueron polihidramnios (OR: 5,973 IC95%: 2,443-14,603) y macrosomía (OR: 6,280 IC95%: 2,307-17,095). Conclusión: Se concluye que, se encontró asociación de atonía uterina con los indicadores de polihidramnios y macrosomía fetal.
Objective: To determine the association between maternal - fetal clinical - epidemiological indicators and the presence of uterine atony in post - caesarean primary puerperae at the Good Hope clinic during the period of August 2017 - August 2018. Methods: An observational, analytical, retrospective and quantitative study, type of cases and controls was carried out. The dependent variable was uterine atony, and the independent variables were maternal age, multiple gestation, polyhydramnios, pregnancy, parity, maternal anemia, concomitant diseases, fetal weight, fetal presentation and indication of cesarean section. The population consisted of 106 cases and 212 controls (ratio 2: 1). For the inferential statistics, the bivariate analysis was used to find the Odds Ratio, 95% confidence intervals. The values p <0.05 were considered statistically significant. Results: Of the 318 patients in the study, the mean age was 30.87 ± 0.298 years. Associated variables to uterine atony in the bivariate analysis were age over 30 years, multiple gestation, polyhydramnios, low birth weight and macrosomia. In multivariate analysis were polyhydramnios (ORa: 5,973, 95% CI: 2,443-14,603) and macrosomia (ORa: 6.280, 95% CI: 2.307-17.095). Conclusion: It is concluded that, association of uterine atony with polyhydramnios indicators and fetal macrosomia was found.
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Objectives - To study the fetal and maternal outcome, in pregnancies complicated by polyhydramnios with that of pregnancies having normal fluid volume. Maternal and Methods This prospective case control study was conducted on 100 patients with polyhydramnios and 100 pregnant women with normal fluid volume over a period of 18 months from April 2017 to September 2018. Results Out of 100 patients with AFI > 24, 12% had congenital anomalies, out of which GIT were maximum as compared to control group only 2%. The most common maternal complication in the study group was preterm labor, malpresentation, PROM, eclampsia, auptio placenta, dyspnea, cord prolapse and atonic PPH, slightly more as compared to study group. Gestational age at delivery in the study group was 37.6 weeks as compared to 38.2 weeks in control group. The study group had more number of labor inductions, LSCS, fetal distress, low 1 and 5 minute Apgar Score, NICU admissions, meconium aspiration, respiratory distress and perinatal deaths as compared to control group. Conclusion Polyhydramnios poses danger for both mother and baby, hence there is a need to have an anomaly scan at an earlier gestation and monthly amniotic fluid assessment from 20th week onward for diagnosis of polyhydramnios and timely intervention so as to reduce the maternal morbidity and perinatal morbidity and mortality.
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Chorioangioma belongs to benign nontrophoblastic primary vascular neoplasms of placenta, originating from primitive chorionic mesenchyme and has a cited prevalence of around 0.6% to 1% of all pregnancies. Though majority of them are asymptomatic, clinical course depends mainly on the size of the neoplasm. Giant chorioangiomas (> 4-5 centimetres in diameter) with an approximate prevalence of around one in 9000 to one in 50,000 pregnancies, have been associated with many adverse maternal and fetal complications. We report a case of 21-year-old primigravida lady, who presented to us at 37weeks 4 days period of gestation with backache and with clinically evident increased liquor. On evaluating the cause of her polyhydramnios, ultrasonography revealed a well-defined echogenic vascular mass measuring ~ 8х8 centimetres in the placenta, suggestive of chorioangioma. Though the condition is infrequent, through this case report, we emphasize that even placental factors need to be ruled out in evaluating causes of polyhydramnios. Despite large size of chorioangioma and associated hydramnios, our patient exceptionally didn’t have any fetal complications. With proper antenatal surveillance, optimal feto-maternal outcome can be expected as seen in our case.
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Background: Polyhydramnios is the term for abnormal increase in the amniotic fluid. It has been shown that AFI is quite reliable in determining normal or elevated volumes. The aim of this study to evaluated the perinatal and maternal outcome in pregnant women with polyhydramnios. Material & Methods: This analytical study was conducted on 300 unselected pregnancies attending in Mahatma Gandhi Hospital, Bhilwara, Rajasthan. Most of the cases of polyhydramnios were admitted in the hospital till they delivered, other patients were followed up as outpatient and they were admitted to the hospital for delivery. Pregnancy outcome were recorded for the patients who were classified as having an excess amount of amniotic fluid. Results: In our study showed that out 0f 300 patients, 168 (56%) were in the age group of 21-25 yrs, 62.3% cases were multigravida in our study. In our study 73% of the cases were delivered vaginally. Out of which 15% were induced and 58% were delivered spontaneously. 27% of the cases were delivered by LSCS, out of which 16% were emergency LSCS and 11% were elective LSCS. In our study there were many perinatal complications. Out of them preterm birth was the most common complication. Conclusion: The conclusion of this prospective study was occurrence of polyhydramnios is directly related to advanced maternal age with multigravida. Caesarean section as a mode of delivery was found to be higher in cases of polyhydramnios.
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Preterm birth is a leading cause of perinatal mortality and long term morbidity as well as the long term health consequences and neurodevelopmental outcome
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OBJECTIVE: Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate the clinical characteristics of pregnancies complicated by congenital myotonic dystrophy in our institution. METHODS: We have reviewed 11 paired cases of neonates diagnosed with congenital myotonic dystrophy and their mothers between July 2004 and May 2014, with clinical features including maternal history of infertility, prenatal ultrasonographic findings, and neonatal outcomes. Cytosine-thymine-guanine (CTG) repeat expansion in the myotonic dystrophy protein kinase gene of both neonates and their mothers was also examined. RESULTS: None of mother was aware of their myotonic dystrophy traits before pregnancy. History of infertility followed by assisted reproductive technology accounted for 57.1% (4/7). Distinctive prenatal ultrasonographic finding was severe idiopathic polyhydramnios (66.7%, 4/6) with median amniotic fluid index of 43 (range, 37 to 66). In 37.5% (3/8) cases, decreased fetal movement was evident during prenatal ultrasound examination. For neonatal outcomes, more than half (6/11) were complicated with preterm birth and the proportion of 1-minute Apgar score <4 and 5-minute Apgar score <7 was 44.4% (4/9) and 66.7% (6/9), respectively. Most of neonates were admitted to the neonatal intensive care unit (9/10) because of hypotonia with respiratory problems and there was one infant death. Median number of cytosine-thymine-guanine repeats in mothers and neonates was 400 (range, 166 to 1,000) and 1,300 (range, 700 to 2,000), respectively. CONCLUSION: Our data suggest that severe idiopathic polyhydramnios with decreased fetal movement in pregnant women, especially with a history of infertility, requires differential diagnosis of congenital myotonic dystrophy.
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Femenino , Humanos , Recién Nacido , Embarazo , Líquido Amniótico , Puntaje de Apgar , Diagnóstico Diferencial , Movimiento Fetal , Muerte del Lactante , Infertilidad , Cuidado Intensivo Neonatal , Madres , Hipotonía Muscular , Distrofia Miotónica , Proteína Quinasa de Distrofia Miotónica , Polihidramnios , Mujeres Embarazadas , Nacimiento Prematuro , Diagnóstico Prenatal , Prevalencia , Técnicas Reproductivas Asistidas , UltrasonografíaRESUMEN
Chorioangiomas are the most common benign placental tumors, with an estimated prevalence of 1%. Whilst small chorioangiomas usually remain asymptomatic and are of no clinical significance, larger tumors (>4cm) can be associated with a variety of complications, ranging from fetal anemia to in-utero demise in up to 40% of cases. Despite size being a major determinant for the risk of complications, the degree of the chorioangioma's vascularity also seems to play a role. In fact, in selected cases, occluding the tumors vessels (e.g. with alcoholic instillation) appears to improve the prognosis due to the subsequent tumor ischemia. We present the case of a 40-year-old woman who at 29 weeks was found to have a large placental hypervascular mass (93mm×66mm) and polyhydramnios, with an elevated peak systolic volume in the middle cerebral artery. She was given corticosteroids for fetal lung maturation, and throughout her admission both the volume of amniotic fluid stabilized and the peak systolic volume in the middle cerebral artery normalized, with changing of the ultrasonographic characteristics of the chorioangioma, with apparent progressive necrosis. At 34 weeks, a large subchorionic hematoma was found and, due to the risk of impending placental abruption, we opted to deliver by cesarean section, with a favorable outcome.(AU)
Corioangiomas são os tumores placentários benignos mais comuns, com uma prevalência estimada de 1%. Embora pequenos corioangiomas geralmente permaneçam assintomáticos e não tenham significância clínica, tumores maiores (> 4cm) podem estar associados a diversas complicações, que variam de anemia fetal até a morte intraútero em até 40% dos casos. Ainda que o tamanho do tumor seja um determinante principal para o risco de complicações, o grau da vascularidade do corioangioma também parece desempenhar um papel importante. De fato, em casos selecionados, a oclusão dos vasos tumorais (por exemplo, através de instilação de álcool) parece melhorar o prognóstico devido à subsequente isquemia tumoral. Apresentamos o caso de uma mulher de 40 anos a qual, com 29 semanas de gestação, apresentava grande massa hipervascular placentária (93×66mm) e poli-hidrâmnio, com elevação do peak systolic volume in the middle cerebral artery. Ela recebeu corticosteroides para a estimulação da maturação pulmonar fetal e durante a sua internação o volume de líquido amniótico foi estabilizado e o peak systolic volume in the middle cerebral artery normalizado, com mudança nas características ultrassonográficas do corioangioma, com necrose progressiva aparente. Com 34 semanas de gestação, observou-se a presença de hematoma subcoriônico de grande porte e, devido ao risco de descolamento prematuro da placenta, optou-se por parto cesariano, com desfecho favorável.(AU)
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Humanos , Femenino , Embarazo , Adulto , Hemangioma/diagnóstico , Hemangioma/patología , Placenta/anomalías , Neoplasias TrofoblásticasRESUMEN
Los defectos del tubo neural son un grupo heterogéneo y complejo de anomalías del sistema nervioso central que se encuentran entre las anormalidades congénitas humanas más frecuentes, sólo superados por los defectos cardiovasculares, excluyendo las alteraciones cromosómicas. Se caracteriza por ser el resultado final de una anomalía progresiva que se inicia con un disrrafismo del neuroporo rostral por un defecto mesenquimal, seguido de una segunda fase de exposición de hemisferios cerebrales bien diferenciados desarrollado fuera del cráneo embrionario concluyendo con una fase de desintegración. Puede presentarse como evento único o asociado a otras malformaciones. Reportamos tres casos de secuencia disrrafia-exencefalia-anencefalia, uno de ellos en presencia de polihidramnios, otro asociado a síndrome de brida amniótica y otro cuyo estudio cromosómico reporta síndrome de Klinefelter, todos con un resultado común, mal pronóstico perinatal.
Neural tube defects are a complex of central nervous system abnormalities that are among the most common human congenital abnormalities, second only to cardiovascular defects, excluding chromosomal abnormalities and heterogeneous group. It is characterized as the end result of a progressive anomaly that starts with a dysraphism the rostral neuropore by a mesenchymal defect, followed by a second phase exhibit distinct cerebral hemispheres developed beyond the embryonic skull concluding with a phase of disintegration. It can occur as a single event or associated with other malformations. We report three cases of anencephaly -exencephaly-dysraphism sequence, one of them in the presence of polyhydramnios, other associated amniotic band syndrome and other chromosomal study reports Klinefelter syndrome, all with a common result, poor perinatal outcome.
RESUMEN
INTRODUCCIÓN: Entre 15-20% de los embarazos gemelares monocoriales biamnióticos se complican con el síndrome de transfusión feto/fetal el cual se asocia con mortalidad superior a 90% y morbilidad significativa en el 50% del gemelo sobreviviente. La técnica láser que coagula la superficie de la placa coriónica entre los principales canales a lo largo del ecuador (técnica de Solomon), se ha sugerido para disminuir la recurrencia, prevenir complicaciones secundarias sin incrementar resultados adversos. Métodos: REVISIÓN de la literatura existente en las bases de datos MEDLINE, EBSCO, OVID, PROQUEST, COCHRANE, Lilacs, SciELO, desde el año 2000 al 2015. Se incluyeron los artículos de revisión e investigaciones originales que compararon la técnica estándar de fotocoagulación secuencial con láser y la técnica de Solomon, el resultado primario fue la reducción de la incidencia Secuencia Anemia Policitemia, recurrencia del síndrome de transfusión feto/fetal, mortalidad perinatal y morbilidad neonatal severa. RESULTADOS: Se encontraron 200 artículos, se seleccionaron seis: 1 ensayo clínico y su análisis secundario, 2 estudios de cohorte retrospectivos, 1 revisión sistemática y un estudio que compara los resultados del neurodesarrollo. Los estudios sugieren una mejoría en la sobrevida de algunos de los fetos con la técnica Solomon, menor recurrencia del síndrome de transfusión feto/fetal y Secuencia Anemia Policitemia, sin la presencia de eventos adversos. CONCLUSIÓN: La técnica de Solomon mejora la sobrevida de algunos gemelos, sin embargo no puede concluirse que haya mejoría en la mortalidad pues los estudios no tienen el suficiente poder para determinarlo.
INTRODUCTION: Between 15 to 20% of monochorionic diamniotic twin pregnancies are complicated by the twin-twin transfusion syndrome. It has a mortality greater than 90% and a significant morbidity, 50% in the surviving twin. The Solomon technique (laser photocoagulation of the main vascular channels of the chorio-nic plate surface along the entire vascular equator) has been suggested to reduce the recurrence, and pre-vent secondary complications without increasing adverse results. METHODS: Systematic review of electronic searches of the literature from 2000 to 2015 (MEDLINE, EBSCO, OVID, PROQUEST, COCHRANE, Lilacs, and SciELO). We included review articles and original investigations comparing the standard photocoagulation technique with laser ablation against the Solomon technique. The primary results were reduction of Anemia Polycythemia Sequence incidence, twin-twin transfusion syndrome recurrence, perinatal mortality and severe neonatal morbidity. RESULTS: Of 200 articles, we selected six: one clinical essay and its secondary analysis, two retrospective cohort studies, one systematic review and a study comparing neurodeve-lopmental outcomes. The studies suggested a survival improvement in some fetuses using the Solomon technique, less twin-twin transfusion syndrome recurrence and Anemia Polycythemia Sequence without the presence of adverse effects. CONCLUSION: Solomon technique improves the survival of some twins, although we cannot conclude there is mortality improvement, because the studies do not have enough power to determine that.
Asunto(s)
Humanos , Femenino , Embarazo , Recién Nacido , Coagulación con Láser/métodos , Transfusión Feto-Fetal/cirugía , Policitemia/etiología , Síndrome , Gemelos , Resultado del Embarazo , Resultado del Tratamiento , Transfusión Feto-Fetal/complicaciones , Fetoscopía , Anemia/etiología , FotocoagulaciónRESUMEN
Abstract Purpose The amniotic fluid volume (AFV) is known as a predictor for the wellness of a fetus. We aimed to investigate whether N-terminal pro-brain natriuretic peptide (NTproBNP) levels reflect AFV abnormalities in otherwise normal fetuses. Methods We recruited 24 women with isolated oligohydramnios, 23 women with isolated polyhydramnios, and 36 women with normal AFV at a tertiary referral center. NT-proBNP levels in umbilical venous samples and the individual characteristics of the three groups were compared. One-way ANOVA and Kruskal-Wallis analysis of variance were used for multi-group comparisons of continuous variables. When a significant difference was detected, the Scheffe test was performed as a post-hoc analysis. Proportions were compared using the Chi-square (2) test. Results Maternal age, body mass indices, weight gained in pregnancy and NT-proBNP levels were similar among the three groups. Apgar scores at 1 and 5 minutes significantly correlated with NT-proBNP levels in all newborns (Spearman's r = 0.23 ; p = 0.03 and Spearman's r = 0.24; p = 0.02, respectively). The umbilical venous NTproBNP levels did not differ between newborns who needed mechanical ventilation and those who didn't (p = 0.595). Conclusions NT-proBNP is a biomolecule that may provide insights into the pathogenesis of fetal circulatory problems and subsequent renal failure. Further investigations are warranted.
Resumo Objetivo Investigar se os níveis de peptídeo natriurético pró-cerebral N-terminal (NTproBNP) refletem anormalidades no volume de líquido amniótico (VLA) em fetos normais. Métodos Reunimos 24 mulheres com oligoidrâmnios isolados, 23 com poli-hidrâmnios isolados, e 36 com VLA normal em um centro de referência. Comparamos os níveis de NT-proBNP em amostras venosas umbilicais e características individuais em três grupos. Usamos análise de variância simples (One-way ANOVA) e a análise de variação Kruskal-Wallis para comparação de variáveis contínuas em múltiplos grupos. Quando identificada uma diferença significativa, o teste de Scheffe foi aplicado como uma análise post-hoc. Comparamos proporções usando o teste Qui-quadrado (2). Resultados Idade fértil, índice de massa corporal, ganho de peso na gestação e níveis de NT-proBNP foram similares nos três grupos. Apgar em 1 e 5 minutos correlacionaram significativamente com os níveis de NT-proBNP em todos os recém-nascidos (Spearman's r = 0,23; p = 0,03 e Spearman's r = 0,24; p = 0,02, respectivamente). Os níves de NT-proBNP venoso umbilical não se distinguiram entre os recém-nascidos que precisaram de ventilação mecânica e aqueles que não precisaram (p = 0,595). Conclusões NT-proBNP é um candidato biomolecular que pode contribuir na patogênese de problemas circulatórios fetais e subsequente insuficiência renal. São necessárias futuras investigações.