Impaired EphA4 signaling leads to congenital hydronephrosis, renal injury, and hypertension

DEFF Research Database (Denmark)

Sällström, Johan; Peuckert, Christiane; Gao, Xiang

2013-01-01

Experimental hydronephrosis induced by partial ureteral obstruction at 3 wk of age causes hypertension and renal impairment in adult rats and mice. Signaling by Ephrin receptors (Eph) and their ligands (ephrins) importantly regulates embryonic development. Genetically modified mice, where...... the cytoplasmic domain of the EphA4 receptor has been substituted by enhanced green fluorescent protein (EphA4(gf/gf)), develop spontaneous hydronephrosis and provide a model for further studies of the disorder. The present study aimed to determine if animals with congenital hydronephrosis develop hypertension...... and renal injuries, similar to that of experimental hydronephrosis. Ultrasound and Doppler techniques were used to visualize renal impairment in the adult mice. Telemetric blood pressure measurements were performed in EphA4(gf/gf) mice and littermate controls (EphA4(+/+)) during normal (0.7% NaCl)- and high...

ATP5B and ETFB metabolic markers in children with congenital hydronephrosis.

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Zhao, Qi; Yang, Yi; Wang, Changlin; Hou, Ying; Chen, Hui

2016-12-01

Congenital obstructive nephropathy is the primary cause of chronic renal failure in children. Disorders of mitochondrial energy metabolism may be a primary factor underlying tubular cell apoptosis in hydronephrosis. The β-F1-ATPase (ATP5B) and electron transfer flavoprotein β subunit (ETFB) metabolic markers are involved in mitochondrial energy metabolism in other diseases. The aim of the present study was to evaluate whether ATP5B and ETFB are represented in the hydronephrotic kidney, and whether they are associated with the progression of hydronephrosis. The cohort examined consisted of 20 children with hydronephrosis, graded III and IV using the Society for Fetal Urology grading system, and a control group consisting of 20 patients with nephroblastoma. Reverse transcription‑quantitative polymerase chain reaction and immunoblot analyses were used to investigate the differential expression of genes and proteins in the two groups. The gene and protein expression levels of ATP5B and ETFB were upregulated in the hydronephrosis group. Correlation analyses revealed negative correlations between ATP5B, ETFB protein and split renal function (SRF). Receiver‑operator curve analysis found a diagnostic profile of the ETFB protein in identifying children with hydronephrosis with abnormal SRF (hydronephrosis and require further detailed investigation.

Prenatal education for congenital toxoplasmosis.

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Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

2015-10-23

Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

Risk factors for febrile urinary tract infection in children with prenatal hydronephrosis: a prospective study.

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Braga, Luis H; Farrokhyar, Forough; D'Cruz, Jennifer; Pemberton, Julia; Lorenzo, Armando J

2015-05-01

We prospectively investigated the impact of risk factors for febrile urinary tract infection in infants with postnatally confirmed prenatal hydronephrosis. Patients seen for prenatal hydronephrosis from 2010 to 2013 were prospectively followed. Those with ectopic ureters and ureteroceles, posterior urethral valves and neuropathic bladders were excluded. The primary outcome was febrile catheter specimen urinary tract infection. We performed univariate analysis of 7 a priori risk factors, including age, hydronephrosis grade (low-I or II vs high-III or IV), type (isolated hydronephrosis vs hydroureteronephrosis), continuous antibiotic prophylaxis, vesicoureteral reflux grade, gender and circumcision status. Time to febrile urinary tract infection curves analyzed by Cox proportional regression were generated to adjust for confounders. We collected data on 334 patients, of whom 78% were male. A febrile urinary tract infection developed in 65 patients (19%) at a median of 4 months (range 1 to 31). High grade hydronephrosis was present in 192 infants (57%). Continuous antibiotic prophylaxis was prescribed in 96 cases (29%). Of patients on continuous antibiotic prophylaxis 69% had high grade hydronephrosis. Vesicoureteral reflux was identified in 57 of 238 patients in whom voiding cystourethrogram was done. Reflux was grade I to III in 14 cases and grade IV or V in 43. Two-thirds of the patients with reflux were on continuous antibiotic prophylaxis. Circumcision was performed in 95 males (36%). Cox proportional regression identified female gender (HR 3.3, p = 0.02), uncircumcised males (HR 3.2, p = 0.02), hydroureteronephrosis (HR 10.9, p hydronephrosis was also a significant risk factor (HR 3.0, p = 0.04). After patients with vesicoureteral reflux were excluded from the study, females and uncircumcised males with high grade hydroureteronephrosis had significantly higher febrile urinary tract infection rates. Therefore, those patients may benefit from continuous

Surgical treatment reduces blood pressure in children with unilateral congenital hydronephrosis.

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Al-Mashhadi, Ammar; Nevéus, Tryggve; Stenberg, Arne; Karanikas, Birgitta; Persson, A Erik G; Carlström, Mattias; Wåhlin, Nils

2015-04-01

Renal disorders can cause hypertension, but less is known about the influence of hydronephrosis on blood pressure. Hydronephrosis due to pelvo-ureteric junction obstruction (PUJO) is a fairly common condition (incidence in newborns of 0.5-1%). Although hypertensive effects of hydronephrosis have been suggested, this has not been substantiated by prospective studies in humans [1-3]. Experimental studies with PUJO have shown that animals with induced hydronephrosis develop salt-sensitive hypertension, which strongly correlate to the degree of obstruction [4-7]. Moreover, relief of the obstruction normalized blood pressure [8]. In this first prospective study our aim was to study the blood pressure pattern in pediatric patients with hydronephrosis before and after surgical correction of the ureteral obstruction. Specifically, we investigated if preoperative blood pressure is reduced after surgery and if split renal function and renographic excretion curves provide any prognostic information. Twelve patients with unilateral congenital hydronephrosis were included in this prospective study. Ambulatory blood pressure (24 h) was measured preoperatively and six months after surgery. Preoperative evaluations of bilateral renal function by Tc99m-MAG3 scintigraphy, and renography curves, classified according to O'Reilly, were also performed. As shown in the summary figure, postoperative systolic (103 ± 2 mmHg) and diastolic (62 ± 2 mmHg) blood pressure were significantly lower than those obtained preoperatively (110 ± 4 and 69 ± 2 mmHg, respectively), whereas no changes in circadian variation or pulse pressure were observed. Renal functional share of the hydronephrotic kidney ranged from 11 to 55%. There was no correlation between the degree of renal function impairment and the preoperative excretory pattern, or between the preoperative excretory pattern and the blood pressure reduction postoperatively. However, preoperative MAG3 function of the affected kidney correlated

Assessment of 99Tcm-ethylenedicysteine diuretic renography in pre-and post-operative pediatric congenital hydronephrosis

International Nuclear Information System (INIS)

Ye Zhiyi; Wang Hui; Li Jianing; Fu Hongliang; Wu Jingchuan

2010-01-01

Objective: To investigate the clinical value of 99 Tc m -ethylenedicysteine (EC) diuretic renography (DR) in pre-and post-operative pediatric congenital hydronephrosis. Methods: The DR with injection of Furosemide at 15 min of forty children with hydronephrosis was retrospectively studied. The preoperative renal blood perfusion rate (BPR), effective renal plasma flow (ERPF), grade of hydronephrosis,renogram and renal dynamic imaging of pre- and post-operative kidneys were compared. The t-test and Mann-Whitney test were used for data analysis. Results: (1) Of 40 pathological kidneys, the BPR increased 5.99% (t=-5.13, P<0.01) from pre-operative to post-operative: (34.05 ± 11.07)% to (40.04 ± 8.56)%. The ERPF increased 12.48 ml/min (t=-4.35, P<0.01) from pre-operative to post-operative: (57.81 ± 34.32) ml/min to (70.29 ± 5.37) ml/min. (2) The grade of hydronephrosis of 40 pathological kidneys improved significantly(Z=-2.64, P<0.01) with the mean sum of ranks of 47.21 pre-operatively to 33.79 post-operatively.(3) As the hydronephrosis worsened, the collecting system became bigger, the renal parenchyma became thinner, the extent of intrarenal parenchymal photopenia became larger and the response to diuretic challenge in pathological kidneys decreased or became totally irresponsive. (4)Thirty-seven cases of obstruction at ureteropelvic junction (UPJO) and 3 cases at ureterovesical junction (UVJO) were diagnosed by DR, which were all confirmed by surgery. Conclusions: DR is a reliable method to evaluate pediatric congenital hydronephrosis.It can accurately reflect the grade and (or) severity of the disease, guide therapy and assess the therapeutic success of operation. (authors)

Prenatal diagnosis and perinatal management of congenital hydrocephalus using MRI

International Nuclear Information System (INIS)

Hamada, Hiromi; Koresawa, Mitsuhiko; Kubo, Takeshi

1990-01-01

We studied congenital hydrocephalus in 14 patients who were diagnosed prenatally. As a result, we obtained the following insights concerning the prenatal diagnosis by MRI (magnetic resonance imaging) and perinatal management of congenital hydrocephalus. Accurate diagnosis of congenital hydrocephalus was impossible prenatally by two-dimensional ultrasonography or computed tomography alone in some patients. MRI was useful for accurate prenatal diagnosis. Problem of MRI in prenatal diagnosis included deterioration of the image by fetal movements and safety concern over the fetus. The cause of hydrocephalus, complicated anomaly, cerebral cortical thickness, and gestational age must be considered in the perinatal management of congenital hydrocephalus. There appeared to be a chance of recovery to a certain extent from thinning of cerebral cortex by decompression in a patient in whom dilation of cerebral ventricles progressed rapidly. (author)

Congenital lung malformations: correlation between prenatal and ...

African Journals Online (AJOL)

Aim: Congenital lung malformations are a common finding during prenatal ultrasonography (US). Investigations were completed by means of prenatal MRI and postnatal computed tomographic (CT) scan. The purpose of this study was to compare these prenatal findings with postnatal findings and pathological findings after ...

Determination of the Need for Surgical Intervention in Infants Diagnosed with Fetal Hydronephrosis in China.

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Zhang, Lei; Liu, Chao; Li, Yan; Sun, Chao; Li, Xiang

2016-11-06

BACKGROUND Hydronephrosis is a common congenital condition. The detection of fetal hydronephrosis by ultrasound presents a treatment dilemma. This study aims to examine postnatal follow-up and treatment for hydronephrosis diagnosed prenatally. MATERIAL AND METHODS This was a retrospective study of 210 infants with hydronephrosis diagnosed at the Qilu Hospital (Shangdong, China) between January 2005 and January 2013. The patient cohort was divided into four groups based on prenatal ultrasound examinations using the Society for Fetal Urology (SFU) classification system. Data on follow-up investigations and treatment methods were extracted from the charts and analyzed. RESULTS Patients with SFU grade 1, 2, and 3 hydronephrosis (n=125, n=74, and n=11, respectively) were followed for two years. In all, 2.4%, 18.9%, and 90.9% of patients with SFU grade 1, 2, and 3 hydronephrosis, respectively, underwent surgery. SFU grade 3 (HR=9.23, 95% CI: 1.43-59.74, p=0.02), APD (HR=2.81, 95% CI: 1.11-7.10, p=0.03), and parenchymal thickness (HR=0.42, 95% CI: 0.24-0.71, p=0.001) were independently associated with the occurrence of surgery. For anterioposterior diameter, using a cut-off point of 1.1, the area under the curve was 0.86, Youden index was 0.556, sensitivity was 70.4%, and specificity was 85.3%. For parenchymal thickness, using a cut-off point of 5, AUC was 0.79, Youden index was 0.478, sensitivity was 74.1%, and specificity was 73.8%. CONCLUSIONS Patients with SFU grade 2 hydronephrosis require long-term follow-up. Surgery and close postsurgical observation may be necessary for patients with SFU grade 3 and 4 hydronephrosis. An initial B-mode ultrasound screening at 7-10 days after birth may help make an optimal diagnosis and treatment selection.

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.

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Chen, Chih-Ping; Chang, Shuenn-Dyh; Wang, Tzu-Hao; Wang, Liang-Kai; Tsai, Jeng-Daw; Liu, Yu-Peng; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Wang, Wayseen

2013-12-01

This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes. aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother. Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion. Copyright © 2013. Published by Elsevier B.V.

Evaluation of Urinary Tract Dilation Classification System for Grading Postnatal Hydronephrosis.

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Hodhod, Amr; Capolicchio, John-Paul; Jednak, Roman; El-Sherif, Eid; El-Doray, Abd El-Alim; El-Sherbiny, Mohamed

2016-03-01

We assessed the reliability and validity of the Urinary Tract Dilation classification system as a new grading system for postnatal hydronephrosis. We retrospectively reviewed charts of patients who presented with hydronephrosis from 2008 to 2013. We included patients diagnosed prenatally and those with hydronephrosis discovered incidentally during the first year of life. We excluded cases involving urinary tract infection, neurogenic bladder and chromosomal anomalies, those associated with extraurinary congenital malformations and those with followup of less than 24 months without resolution. Hydronephrosis was graded postnatally using the Society for Fetal Urology system, and then the management protocol was chosen. All units were regraded using the Urinary Tract Dilation classification system and compared to the Society for Fetal Urology system to assess reliability. Univariate and multivariate analyses were performed to assess the validity of the Urinary Tract Dilation classification system in predicting hydronephrosis resolution and surgical intervention. A total of 490 patients (730 renal units) were eligible to participate. The Urinary Tract Dilation classification system was reliable in the assessment of hydronephrosis (parallel forms 0.92). Hydronephrosis resolved in 357 units (49%), and 86 units (12%) were managed by surgical intervention. The remainder of renal units demonstrated stable or improved hydronephrosis. Multivariate analysis revealed that the likelihood of surgical intervention was predicted independently by Urinary Tract Dilation classification system risk group, while Society for Fetal Urology grades were predictive of likelihood of resolution. The Urinary Tract Dilation classification system is reliable for evaluation of postnatal hydronephrosis and is valid in predicting surgical intervention. Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Inter-rater reliability of postnatal ultrasound interpretation in infants with congenital hydronephrosis.

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Vemulakonda, V M; Wilcox, D T; Torok, M R; Hou, A; Campbell, J B; Kempe, A

2015-09-01

The most common measurements of hydronephrosis are the anterior-posterior (AP) diameter and the Society for Fetal Urology (SFU) grading systems. To date, the inter-rater reliability (IRR) of these measures has not been compared in the postnatal period. The objectives of this study were to compare the IRR of the AP diameter and the SFU grading system in infants and to determine whether ultrasound findings other than pelvicalyceal dilation are associated with higher SFU grades. Initial postnatal ultrasounds of infants seen from February 1, 2011, to January 31, 2012, with a primary diagnosis of congenital hydronephrosis were included for review. Ultrasound images were de-identified and reviewed by four pediatric urologists. IRR was calculated using the intraclass correlation (ICC) measure. A paired t test was used to compare ICCs. Associations between SFU grade and other ultrasound findings were tested using Chi-square or Fisher's exact tests. A total of 112 kidneys in 56 patients were reviewed. IRR of the SFU grading system was high (right kidney ICC = 0.83, left kidney ICC = 0.85); however, IRR of AP diameter measurement was higher (right kidney ICC = 00.97, left kidney ICC = 0.98; p hydronephrosis on bivariable and multivariable analysis. The SFU grading system is associated with excellent IRR, although the AP diameter appears to have higher IRR. Physicians may consider ultrasound findings that are not explicitly included in the SFU system when assigning hydronephrosis grade, which may lead to variability in use of this classification system.

Prenatal diagnosis of congenital paraesophageal hiatal hernia

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Min Jeng Cho

2018-05-01

Full Text Available Abstracts: Congenital paraesophageal hiatal hernia (CPEH is a rare condition. CPEH can cause important clinical problems such as gastric volvulus, hematemesis, vomiting, failure to thrive, and respiratory distress, it requires early diagnosis and prompt surgical treatment. In this paper, we describe a case of CPEH that was suspected in a prenatal ultrasound. Postnatal upper gastrointestinal contrast series confirmed a CPEH with intrathoracic gastric volvulus. An emergency operation was performed. The stomach was reduced, the hiatal defect was repaired by crural approximation, and a Nissen fundoplication was done. The prenatal diagnosis of CPEH is unusual, but prenatal detection is important because it allows planned neonatal surgery before the onset of complications and reduces long-term morbidity. Keywords: Congenital paraesophageal hiatal hernia, Antenatal diagnosis, Gastric volvulus

Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

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Yau, Mabel; Khattab, Ahmed; New, Maria I

2016-06-01

Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. Copyright © 2016 Elsevier Inc. All rights reserved.

Postnatal Imaging of Antenatal Hydronephrosis

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Kitchens, David M.; Herndon, C. D. Anthony

2009-01-01

Radiologic imaging of the newborn detected prenatally with hydronephrosis should follow a systematic approach. Upper and lower urinary tract imaging should be performed in most cases in order to determine the etiology and gauge the use of future imaging. An overview of renal ultrasound, voiding cystourethrography, renal scintigraphy, and magnetic resonance urography in the setting of antenatal hydronephrosis are discussed. PMID:19484160

Postnatal Imaging of Antenatal Hydronephrosis

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David M. Kitchens

2009-01-01

Full Text Available Radiologic imaging of the newborn detected prenatally with hydronephrosis should follow a systematic approach. Upper and lower urinary tract imaging should be performed in most cases in order to determine the etiology and gauge the use of future imaging. An overview of renal ultrasound, voiding cystourethrography, renal scintigraphy, and magnetic resonance urography in the setting of antenatal hydronephrosis are discussed.

Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

International Nuclear Information System (INIS)

Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I.; Mehta, Nimisha

2017-01-01

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

Energy Technology Data Exchange (ETDEWEB)

Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Health System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Mehta, Nimisha [George Washington University School of Medicine, Washington, DC (United States)

2017-12-15

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

Fetal polycystic renal disease: prenatal sonographic findings with pathologic correlation

International Nuclear Information System (INIS)

Jun, Soon Ae; Park, Yong Hyun; Cha, Sun Hee; Kay, Jung Woong; Cho, Joo Yeon; Cha, Kwang Yul; Cha, Kyung Sub; Chi, Je G.

1990-01-01

Polycystic renal disease are congenital disorders, most of which are fatal in the postnatal period. A series of ten cases of polycystic renal disease diagnosed prenatally by ultrasonography is presented. Diagnostic criteria of ultrasonography for cystic renal disease are; 1. enlarge kidney (4 cases) 2. echogenic density of kidney (3 cases) 3. 0.4 - 0.9cm sized multiple cysts within the renal cortex (3 cases) 4. decreased amount of amniotic fluid (4 cases) 5. hydronephrosis (4 cases) 6. distended bladder (2 cases) 7. absence of bladder (2 cases) Eight of ten cases were confirmed by autopsy. Seven cases had other associated congenital anomalies, i.e. pulmonary hypoplasia (5), hepatic fibrosis (3), congenital heart disease (3), tracheoesophageal fistula with imperforate anus (1), caudal regression syndrome (1), Meckel-Gruber syndrome (1) and ambiguous genitalia (2). Additional cytogenetic study of the fetus and the careful family history taking followed by prenatal diagnosis of cystic renal disease. Precise prenatal diagnosis may allow patients the option of elective abortion or may prevent unnecessary obstetric intervention

Voiding cystourethrogram in the diagnosis of vesicoureteric reflux in children with antenatally diagnosed hydronephrosis

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R B Nerli

2008-12-01

Full Text Available R B Nerli, S S Amarkhed, I R RavishDepartment of Urology, Kles Kidney Foundation, Nehru Nagar, Belgaum, IndiaAbstract: Prenatal ultrasonography has revolutionized the detection and management of many urological abnormalities. Vesicoureteric reflux (VUR which develops in 10% to 15% of cases of prenatal hydronephrosis, is difficult to predict prenatally. While all children with prenatal hydronephrosis should undergo ultrasonography within the first few weeks of life, there seems to be controversy regarding the role of voiding cystourethrogram (VCUG in the assessment of these children.Materials and methods: Neonates with antenatally diagnosed unilateral hydronephrosis were prospectively assessed with sonography on day 3–7, and VCUG and isotope imaging at three months.Results: Seven (16.6% children of the 42 children with Society of Fetal Urology grade 0/I/II hydronephrosis on postnatal sonography had evidence of VUR on VCUG. 44.4% of the refluxing ureters identified involved high grade disease and two (28.5% children required reimplantation.Conclusions: Children with fetal reflux may be diagnosed prior to urinary tract infection and in whom further renal injury may be prevented. VCUG when performed properly is safe and presents with little risk of infectious and noninfectious complications. VCUG should be done in children in whom hydronephrosis is detected prenatally to restrict the use of VCUG to diagnose VUR. Two patients had infection.Keywords: antenatal hydronephrosis, voiding cystourethrogram, vesicoureteric reflux

Development of pediatric hydronephrosis patients visiting the San Vicente Foundation University Hospital, Medellín, Colombia = Evolución de los pacientes pediátricos con diagnóstico de hidronefrosis que consultaron al Hospital Universitario San Vicente Fundación, Medellín, Colombia, entre 1960 y 2010

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Niño Serna, Laura

2014-04-01

Full Text Available INTRODUCTION: Hydronephrosis is one of the most common congenital malformations detected on prenatal ultrasounds. Moderate and severe cases are often associated with ureteropelvic junction obstruction, posterior urethral valves and vesicoureteral reflux (VUR. OBJECTIVE: To describe a series of pediatric patients diagnosed with hydronephrosis determining their etiology, prenatal diagnosis and frequency of chronic kidney disease (CKD. MATERIALS AND METHODS: A descriptive, retrospective study, through the reviewing of records of patients attending the outpatient department of pediatric nephrology at St. Vincent Hospital Foundation of Medellin, Colombia, for diagnosis of hydronephrosis during the years 1960-2010. RESULTS: The records of 924 patients between the ages of 0 and 18 years were evaluated, 35.7% female and 64.3% male. In 14.4% (133 the diagnosis was prenatal. Hydronephrosis was bilateral in 198 patients (28.5%. In 18.3% (169 no associated urological abnormality was found, reaching 4.2% in CKD (7. Ureteropelvic stenosis was diagnosed in 23.3% (216 followed with 21.5% VUR (199 and posterior urethral valves in 9.4% (87, reaching 10.2% ERC (93 CONCLUSION: Hydronephrosis allows the detection of underlying urologic abnormalities susceptible of trace or surgical correction. Prenatal diagnosis has allowed finding severe cases avoiding future complications such as urinary tract infection, presence of renal scarring and even chronic renal disease.

Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.

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Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

2018-02-01

Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild ventriculomegaly was significantly higher than in those with other types of soft markers (50.0% vs 15.6%, P congenital heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.

Uroepithelial thickening improves detection of vesicoureteral reflux in infants with prenatal hydronephrosis.

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Gordon, Zachary N; McLeod, Daryl J; Ching, Christina B; Herz, Daniel B; Bates, D Gregory; Becknell, Brian; Alpert, Seth A

2016-08-01

Postnatal evaluation of prenatal hydronephrosis (PNH) often includes a voiding cystourethrogram (VCUG) for VUR assessment. Despite limited supporting data, VCUG is currently recommended if postnatal renal and bladder ultrasound (RBUS) reveals moderate/severe hydronephrosis (HN) or hydroureter (HU). Recent studies have shown VUR is more accurately diagnosed by using certain sonographic findings as criteria for obtaining VCUG. Uroepithelial thickening (UET) of the renal pelvis is a finding associated with high-grade vesicoureteral reflux (HGVUR); however, the clinical significance of UET with PNH has not been studied. We sought to determine if the presence of UET implies increased risk for VUR, and to investigate whether UET can improve the test characteristics of RBUS for VUR. We retrospectively analyzed postnatal RBUS and VCUG findings in infants ≤30 days undergoing evaluation for "prenatal hydronephrosis" over an 11-year period. We used logistic regression to identify factors associated with VUR. Test characteristics of RBUS for HGVUR were compared based on the presence of UET and two criteria sets to define abnormal RBUS. Criteria set 1 consisted of HN SFU grade 3-4 and/or HU; criteria set 2 was defined by the presence of two of following: UET, HU, duplication, and/or renal dysmorphia. Of 135 patients, 39 (29%) had VUR, of whom 16 (41%) had HGVUR. UET was significantly associated with VUR (p < 0.001), and the sensitivity for HGVUR based on UET alone was 94%. On multivariable analysis, UET, HU, duplication, and renal dysmorphia remained significant independent predictors of HGVUR. Compared to criteria 1, using criteria 2 resulted in 43 fewer VCUGs, and significant improvement in sensitivity and specificity for HGVUR (Table). Consistent with previous studies, HN alone on postnatal RBUS has little value in predicting the presence or severity of VUR. This study is the largest known series to evaluate UET in the setting of PNH, and our results demonstrate that UET

Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9.

Science.gov (United States)

Gürel, Sebahat Atar

2015-04-01

Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Prenatal diagnosis of congenital hallux varus is presented herein. A 32-year-old woman was referred to our unit due to significant deviation of the fetal right great toe at 22(+2) weeks of pregnancy. Ultrasound examination revealed a thick and short great toe, which was significantly angulated medially on the right side. Amniocentesis was performed and the result was reported as inv(9) (p11;q12). After delivery, the clinical examination confirmed the prenatal diagnosis. To our knowledge, this is the first reported prenatal diagnosis of an isolated congenital hallux varus. Congenital hallux varus can be diagnosed easily in the prenatal period by 2-D and 4-D ultrasonography. Prenatal karyotyping should be taken into consideration, especially in the presence of associated anomalies, such as polydactyly and clubfoot. © 2014 The Author. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

EUROCAT website data on prenatal detection rates of congenital anomalies

DEFF Research Database (Denmark)

Garne, Ester; Dolk, Helen; Loane, Maria

2010-01-01

The EUROCAT website www.eurocat-network.eu publishes prenatal detection rates for major congenital anomalies using data from European population-based congenital anomaly registers, covering 28% of the EU population as well as non-EU countries. Data are updated annually. This information can be us...

EUROCAT website data on prenatal detection rates of congenital anomalies

NARCIS (Netherlands)

Garne, Ester; Dolk, Helen; Loane, Maria; Boyd, Patricia A.

2010-01-01

The EUROCAT website www.eurocat-network.eu publishes prenatal detection rates for major congenital anomalies using data from European population-based congenital anomaly registers, covering 28% of the EU population as well as non-EU countries. Data are updated annually. This information can be

Surgical indications for unilateral neonatal hydronephrosis in considering ureteropelvic junction obstruction

Directory of Open Access Journals (Sweden)

Hong-Lin Cheng

2014-09-01

Full Text Available Prenatal hydronephrosis is one of the most common urological congenital abnormalities detected by ultrasound. The incidence ranges from 0.59% to 0.69%. Approximately 50% of these fetuses do not have hydronephrosis on postnatal examination, whereas 25–33% of the rest have persistent hydronephrosis leading to the diagnosis of ureteropelvic junction (UPJ obstruction. Renal ultrasonography and renal radionuclide scanning are the major modalities used for assessment and follow-up. Three main criteria used to determine the presence of obstruction are: (1 the magnitude of hydronephrosis present on ultrasound, (2 the relative renal function (RRF measured by renography, and (3 the response of radionuclide washout with furosemide. Unfortunately, it is not always easy to determine obstruction; different types of management have been developed. Without depending on the severity of renal pelvis dilation, percentage of RRF, and response of radionuclide washout in the initial presentation, early surgery to preserve renal function and aggressive observation to prevent unnecessary surgery are two extremes on the spectrum of management for neonatal UPJ obstruction. Relying on renal function in renography, <35–40% or 5–10% of a decrease in the percentage of RRF or on the enlarging of hydronephrosis, respectively, and parenchymal thinning on ultrasonography are the indications for the surgical management to recover renal function in time. In addition to renal function change and imaging progression, the follow-up protocol and family compliance are the other considerations in prevention of impaired renal function. Through more than 40 years of development in the field of UPJ obstruction in infants, there have been several advances in management but controversies remain to be resolved. In this review, we focus on the surgical indications for the UPJ obstruction in this cohort.

Prenatal Diagnosis of Cloacal Exstrophy: A Case Report and Differential Diagnosis with a Simple Omphalocele

Directory of Open Access Journals (Sweden)

Ching-Yu Chou

2015-03-01

Full Text Available Cloacal exstrophy is a rare congenital disorder that may lead to mortality and morbidity. Although the prenatal diagnosis of cloacal exstrophy can be made by a midtrimester ultrasound, it is difficult to differentiate it from a simple omphalocele that can be corrected completely by surgery without morbidity. We reported a case with cloacal exstrophy and reviewed previous literature on differentiating it from an omphalocele. A 33-year-old, pregnant female visited our outpatient center for prenatal care at the 22nd gestational week. The midtrimester ultrasound showed fetal anomalies including a protruding mass from umbilicus, absence of bladder, ambiguous genitalia, and bilateral renal hydronephrosis. The parents received prenatal genetic counseling and decided to continue the pregnancy. A female baby was delivered at the 37th gestational week via vaginal delivery, and cloacal exstrophy without omphalocele was diagnosed. Cloacal exstrophy is a complicated congenital disorder that should be differentiated from a simple omphalocele. Prenatal counseling and postnatal care in a tertiary medical center are important for parents and the fetus, respectively.

Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

LENUS (Irish Health Repository)

Dempsey, M A

2010-03-01

An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

Frequency of postnatal hydronephrosis in infants with a renal anterior-posterior pelvic diameter > 4 mm on midtrimester ultrasound.

Science.gov (United States)

Chou, Ching-Yu; Chen, Li-Ching; Cheong, Mei-Leng; Tsai, Ming-Song

2015-10-01

To examine the association of antenatal renal pelvic dilatation observed on midtrimester ultrasound screening with the presence of hydronephrosis in newborn infants. The records of patients who received fetal ultrasound examination at 18-28 weeks' gestation from May 2008 to March 2012 were retrospectively reviewed. A fetal renal pelvic anterior-posterior (AP) diameter > 4 mm was considered abnormal and ≤ 4 mm was considered normal. On postnatal ultrasound, a renal pelvic AP diameter > 3 mm was considered to indicate hydronephrosis and ≤ 3 mm was considered normal. The association of postnatal hydronephrosis with prenatal pelvic AP diameter was determined using binary logistic regression analysis. The study comprised 1310 newborn infants: 684 (52.2%) male and 626 (47.8%) female. Multivariate analysis showed a right or left prenatal AP renal pelvic diameter > 4 mm was associated with a higher risk of postnatal hydronephrosis compared with a right and left prenatal AP renal pelvic diameter ≤ 4 mm. Boys had a higher risk for postnatal hydronephrosis than girls (odds ratio = 2.42, p 4 mm on midtrimester ultrasound is predictive of postnatal hydronephrosis. Copyright © 2015. Published by Elsevier B.V.

Congenital peribronchial myofibroblastic tumor: prenatal imaging clues to differentiate from other fetal chest lesions

Energy Technology Data Exchange (ETDEWEB)

Calvo-Garcia, Maria A.; Bitters, Constance; Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Lim, Foong-Yen [Cincinnati Children' s Hospital Medical Center, Department of Pediatric Surgery and Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Stanek, Jerzy [Cincinnati Children' s Hospital Medical Center, Department of Pathology, Cincinnati, OH (United States)

2014-04-15

We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age. To the best of our knowledge, this is a unique case of congenital peribronchial myofibroblastic tumor that underwent comprehensive prenatal evaluation and EXIT procedure with good outcome. (orig.)

Congenital peribronchial myofibroblastic tumor: prenatal imaging clues to differentiate from other fetal chest lesions

International Nuclear Information System (INIS)

Calvo-Garcia, Maria A.; Bitters, Constance; Kline-Fath, Beth M.; Lim, Foong-Yen; Stanek, Jerzy

2014-01-01

We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age. To the best of our knowledge, this is a unique case of congenital peribronchial myofibroblastic tumor that underwent comprehensive prenatal evaluation and EXIT procedure with good outcome. (orig.)

Huge maternal hydronephrosis: a rare complication in pregnancy.

Science.gov (United States)

Peng, Hsiu-Huei; Wang, Chin-Jung; Yen, Chih-Feng; Chou, Chien-Chung; Lee, Chyi-Long

2003-06-10

A huge maternal hydronephrosis is uncommon in pregnancy and might be mistaken as a pelvic mass. A 21-year-old primigravida was noted at 25th week of gestation to have a visible bulging mass on her left flank. The mass was originally mistaken as a large ovarian cyst but later proved to be a huge hydronephrosis. Retrograde insertion of ureteroscope and a ureteric stent failed, so we performed repeated ultrasound-guided needle aspiration to decompress the huge hydronephrosis, which enabled the patient to proceed to a successful term vaginal delivery. Nephrectomy was performed after delivery and proved the diagnosis of congenital ureteropelvic junction obstruction.

Frequency of postnatal hydronephrosis in infants with a renal anterior–posterior pelvic diameter > 4 mm on midtrimester ultrasound

Directory of Open Access Journals (Sweden)

Ching-Yu Chou

2015-10-01

Results: The study comprised 1310 newborn infants: 684 (52.2% male and 626 (47.8% female. Multivariate analysis showed a right or left prenatal AP renal pelvic diameter > 4 mm was associated with a higher risk of postnatal hydronephrosis compared with a right and left prenatal AP renal pelvic diameter ≤ 4 mm. Boys had a higher risk for postnatal hydronephrosis than girls (odds ratio = 2.42, p  4 mm on midtrimester ultrasound is predictive of postnatal hydronephrosis.

Bilateral congenital midureteric strictures associated with multicystic dysplastic kidney and hydronephrosis: evaluation with MR urography

Energy Technology Data Exchange (ETDEWEB)

Grattan-Smith, J.D.; Little, Stephen [Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Jones, Richard A. [Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Emory University School of Medicine, Department of Radiology, Atlanta, GA (United States); Kirsch, Andrew J. [Emory University School of Medicine, Department of Pediatric Urology, Atlanta, GA (United States)

2011-01-15

We report a case of bilateral congenital midureteric strictures diagnosed using MR urography. The severity of obstruction differed in the two ureters, resulting in a multicystic dysplastic kidney (MCDK) with an atretic ureter on one side and hydronephrosis that worsened over time due to progressive stenosis on the other. Although midureteric strictures are usually misdiagnosed as ureteropelvic junction (UPJ) or ureterovesical junction (UVJ) obstruction on conventional imaging, MR urography was able to clearly demonstrate both the anatomical and functional abnormalities. Additionally, because of the excellent anatomical resolution, similarities in the underlying pathological lesions could be contrasted with the severity of the pathophysiological impact upon each kidney. (orig.)

Effectiveness of prenatal treatment for congenital toxoplasmosis: a meta-analysis of individual patients' data

DEFF Research Database (Denmark)

Thiébaut, Rodolphe; Leproust, Sandy; Chêne, Geneviève

2007-01-01

BACKGROUND: Despite three decades of prenatal screening for congenital toxoplasmosis in some European countries, uncertainty remains about the effectiveness of prenatal treatment. METHODS: We did a systematic review of cohort studies based on universal screening for congenital toxoplasmosis. We did...... a meta-analysis using individual patients' data to assess the effect of timing and type of prenatal treatment on mother-to-child transmission of infection and clinical manifestations before age 1 year. Analyses were adjusted for gestational age at maternal seroconversion and other covariates. FINDINGS......: We included 26 cohorts in the review. In 1438 treated mothers identified by prenatal screening, we found weak evidence that treatment started within 3 weeks of seroconversion reduced mother-to-child transmission compared with treatment started after 8 or more weeks (adjusted odds ratio [OR] 0.48, 95...

Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

International Nuclear Information System (INIS)

Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

1990-01-01

Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

Tumor disease and associated congenital abnormalities on prenatal MRI.

Science.gov (United States)

Nemec, Stefan F; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L; Graham, John M; Prayer, Daniela

2012-02-01

Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head-neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Tumor disease and associated congenital abnormalities on prenatal MRI

International Nuclear Information System (INIS)

Nemec, Stefan F.; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C.; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L.; Graham, John M. Jr.; Prayer, Daniela

2012-01-01

Objective: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. Materials and methods: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. Results: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Conclusion: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.

Prenatal intraventricular hemorrhage in a term infant with congenital ...

African Journals Online (AJOL)

Intraventricular hemorrhage (IVH) occurs rarely in term infant, since subependymal area is a transient structure in fetal life. IVH in term infant indicates generally that it happened prenatally. Congenital cytomegalovirus (CMV) infection is frequent, occurring in 1% of live births. It is a severe infection leading to developmental ...

Prenatal ultrasonographic findings of cloacal anomaly

Energy Technology Data Exchange (ETDEWEB)

Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2002-09-15

To evaluate the ultrasonographic characteristic of a rare malformation comples, Cloacal anomaly on prenatal ultrasonography. From March 1991 to July 2001, eight cases with the persistent cloaca (4 cases in female and 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic images, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. The ultrasonographic diagnosis was established at 21.8 {+-} 7.8 weeks of gestation. The prenatal ultrasonographic findings of the persistent cloaca were absent bladder (n=2), distended bladder (n=2) and small thick bladder (n=1). Sonography of the kidney showed normal (n=2), hydronephrosis (n=1), dysplasia (n=1) and unilateral hydronephrosis with absent contralateral kidney (n=1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal ultrasonographic findings of cloacal exstrophy included absent bladder (n=3), normal kidney (n=1), hydronephrosis (n=1) and absent kidney (n=1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had oligohydramnios. A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.

Clinical impact of renography in antenatally discovered pelviureteric stenosis: a short review of the literature

International Nuclear Information System (INIS)

Froekiaer, J.; Eskild-Jensen, A.

2003-01-01

Congenital unilateral hydronephrosis is a relatively frequent and often asymptomatic condition diagnosed in utero. The natural history and significance of congenital hydronephrosis on the development and long-term consequences on renal function is not sufficiently known. The present diagnostic methods do not provide prediction of the functional consequences of a potential presence of an obstruction. However, renography is an important method affecting the clinical treatment of children with prenatal unilateral hydronephrosis, and is the only method that satisfactory can provide serial accurate measurements of differential renal function. The present review briefly summarizes the clinical impact of renography in neonatally discovered hydronephrosis in relation to the pathophysiological characteristics of congenital unilateral hydronephrosis. (orig.) [de

Recent diagnostic and therapeutic approaches to prenatally and perinatally diagnosed hydronephrosis and their implementation in the University Clinical Hospital Mostar.

Science.gov (United States)

Mandić, Vjekoslav; Martinović, Vlatka; Kvesić, Ante; Bukvić, Nado; Skitarelić, Nataša; Brekalo, Zdrinko; Ivanković, Krunoslav; Šetka, Violeta

2015-03-01

A shift of the diagnostics of urological malformations towards the fetal age by means of ultrasound, especially hydronephrosis which, apart from reflux, is the most frequent developmental urological disorder, opened many dilemmas and debates. In the course of more than three decades the application of this diagnostic approach to the problem of hydrone- phrosis became a routine clinical practice in all modern clinics. In this paper we present the problems related to this diagnostic method and its delayed application in the Mostar University Clinical Hospital. Along with the exposition of a general approach to the problem of hydronephrosis we briefly present our modest collection of cases which points to the most recent trend of a vigorous medical development in this region, despite unfavorable overall conditions which prevailed so far. The observation included 56 children with prenatal, perinatal and early age determination of pyelon dilatation by means of ultrasonic exploration who were treated surgically. Of this number 32 (57.14%) were male, and 24 (42.86%) female children. Of the observed patients 56 had unilateral and 6 had bilateral pyelon dilatation so that 62 kidneys in all were observed and treated. The dilatation was determined prenatally in 24 (38.7%) out of 62 kidneys observed in all, in 7 (11.29%) the disorder was observed perinatally and in remaining 31 cases (49.9%) it manifested during early childhood, school age, even at the age of pre-puberty. Of the children with prenatally and perinatally determined dilatation, in 14 (45.16%) out of 31 (100.0%) observed kidneys the ap radius of the dilated pyelon was between 10-15 mm, and in 17 (54.84%) more than 15 mm. Along with other examinations (MAG3 and DMSA) the patients were followed-up by ultrasonic exploration of the observed kidney for 6 to 30 (average 18) months after postnatal diagnosis; the ultrasonic exploration was repeated in intervals of 6 months. Within 12 months of birth surgical intervention

Antenatal Hydronephrosis: Differential Diagnosis, Evaluation, and Treatment Options

Science.gov (United States)

Herndon, C.D. Anthony

2006-01-01

The diagnosis, evaluation and management of antenatal hydronephrosis has undergone a two stage paradigm shift since the advent of prenatal ultrasonography in the early 1980s. Initially the identification of a large number of asymptomatic infants appeared to afford the surgeon the opportunity for preemptive intervention. However, it has now become apparent that antenatal hydronephrosis (AH) is far more difficult to interpret thanoriginally perceived. The initial enthusiasm for surgery has now been replaced by a much more conservative approach to ureteropelvic junction(UPJ) obstruction, multi-cystic dysplastic kidney(MCDK), vesicoureteral reflux and the non-refluxing megaureter. This review will highlight the postnatal evaluation of AH and include an overview of the Society for Fetal Urology grading system for hydronephrosis. The differential diagnosis and treatment options for UPJ obstruction, vesicoureteral reflux, MCDK, duplication anomalies, megaureter, and posterior urethral valves will be discussed. PMID:17619702

Prenatal ultrasonographic findings of cloacal anomaly

International Nuclear Information System (INIS)

Song, Mi Jin

2002-01-01

To evaluate the ultrasonographic characteristic of a rare malformation comples, Cloacal anomaly on prenatal ultrasonography. From March 1991 to July 2001, eight cases with the persistent cloaca (4 cases in female and 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic images, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. The ultrasonographic diagnosis was established at 21.8 ± 7.8 weeks of gestation. The prenatal ultrasonographic findings of the persistent cloaca were absent bladder (n=2), distended bladder (n=2) and small thick bladder (n=1). Sonography of the kidney showed normal (n=2), hydronephrosis (n=1), dysplasia (n=1) and unilateral hydronephrosis with absent contralateral kidney (n=1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal ultrasonographic findings of cloacal exstrophy included absent bladder (n=3), normal kidney (n=1), hydronephrosis (n=1) and absent kidney (n=1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had oligohydramnios. A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.

Prenatal treatment for serious neurological sequelae of congenital toxoplasmosis: an observational prospective cohort study.

Directory of Open Access Journals (Sweden)

Mario Cortina-Borja

2010-10-01

Full Text Available The effectiveness of prenatal treatment to prevent serious neurological sequelae (SNSD of congenital toxoplasmosis is not known.Congenital toxoplasmosis was prospectively identified by universal prenatal or neonatal screening in 14 European centres and children were followed for a median of 4 years. We evaluated determinants of postnatal death or SNSD defined by one or more of functional neurological abnormalities, severe bilateral visual impairment, or pregnancy termination for confirmed congenital toxoplasmosis. Two-thirds of the cohort received prenatal treatment (189/293; 65%. 23/293 (8% fetuses developed SNSD of which nine were pregnancy terminations. Prenatal treatment reduced the risk of SNSD. The odds ratio for prenatal treatment, adjusted for gestational age at maternal seroconversion, was 0.24 (95% Bayesian credible intervals 0.07-0.71. This effect was robust to most sensitivity analyses. The number of infected fetuses needed to be treated to prevent one case of SNSD was three (95% Bayesian credible intervals 2-15 after maternal seroconversion at 10 weeks, and 18 (9-75 at 30 weeks of gestation. Pyrimethamine-sulphonamide treatment did not reduce SNSD compared with spiramycin alone (adjusted odds ratio 0.78, 0.21-2.95. The proportion of live-born infants with intracranial lesions detected postnatally who developed SNSD was 31.0% (17.0%-38.1%.The finding that prenatal treatment reduced the risk of SNSD in infected fetuses should be interpreted with caution because of the low number of SNSD cases and uncertainty about the timing of maternal seroconversion. As these are observational data, policy decisions about screening require further evidence from a randomized trial of prenatal screening and from cost-effectiveness analyses that take into account the incidence and prevalence of maternal infection. Please see later in the article for the Editors' Summary.

Prenatal treatment for serious neurological sequelae of congenital toxoplasmosis: an observational prospective cohort study.

Science.gov (United States)

Cortina-Borja, Mario; Tan, Hooi Kuan; Wallon, Martine; Paul, Malgorzata; Prusa, Andrea; Buffolano, Wilma; Malm, Gunilla; Salt, Alison; Freeman, Katherine; Petersen, Eskild; Gilbert, Ruth E

2010-10-12

The effectiveness of prenatal treatment to prevent serious neurological sequelae (SNSD) of congenital toxoplasmosis is not known. Congenital toxoplasmosis was prospectively identified by universal prenatal or neonatal screening in 14 European centres and children were followed for a median of 4 years. We evaluated determinants of postnatal death or SNSD defined by one or more of functional neurological abnormalities, severe bilateral visual impairment, or pregnancy termination for confirmed congenital toxoplasmosis. Two-thirds of the cohort received prenatal treatment (189/293; 65%). 23/293 (8%) fetuses developed SNSD of which nine were pregnancy terminations. Prenatal treatment reduced the risk of SNSD. The odds ratio for prenatal treatment, adjusted for gestational age at maternal seroconversion, was 0.24 (95% Bayesian credible intervals 0.07-0.71). This effect was robust to most sensitivity analyses. The number of infected fetuses needed to be treated to prevent one case of SNSD was three (95% Bayesian credible intervals 2-15) after maternal seroconversion at 10 weeks, and 18 (9-75) at 30 weeks of gestation. Pyrimethamine-sulphonamide treatment did not reduce SNSD compared with spiramycin alone (adjusted odds ratio 0.78, 0.21-2.95). The proportion of live-born infants with intracranial lesions detected postnatally who developed SNSD was 31.0% (17.0%-38.1%). The finding that prenatal treatment reduced the risk of SNSD in infected fetuses should be interpreted with caution because of the low number of SNSD cases and uncertainty about the timing of maternal seroconversion. As these are observational data, policy decisions about screening require further evidence from a randomized trial of prenatal screening and from cost-effectiveness analyses that take into account the incidence and prevalence of maternal infection. Please see later in the article for the Editors' Summary.

Vesikoamniotisk shunt-terapi ved føtal obstruktiv uropati

DEFF Research Database (Denmark)

Nguyen, T H; Thorup, Jørgen Mogens; Larsen, T

1996-01-01

Due to the widespread use of obstetric ultrasound an increasing number of congenital malformations are diagnosed prenatally. Some of these can be treated in utero. A 17 week-old fetus with a posterior urethral valve was diagnosed due to a dilated bladder, bilateral hydronephrosis and oligohydramn......Due to the widespread use of obstetric ultrasound an increasing number of congenital malformations are diagnosed prenatally. Some of these can be treated in utero. A 17 week-old fetus with a posterior urethral valve was diagnosed due to a dilated bladder, bilateral hydronephrosis...

Extreme hydronephrosis due to uretropelvic junction obstruction in infant (case report).

Science.gov (United States)

Krzemień, Grażyna; Szmigielska, Agnieszka; Bombiński, Przemysław; Barczuk, Marzena; Biejat, Agnieszka; Warchoł, Stanisław; Dudek-Warchoł, Teresa

2016-01-01

Hydronephrosis is the one of the most common congenital abnormalities of urinary tract. The left kidney is more commonly affected than the right side and is more common in males. To determine the role of ultrasonography, renal dynamic scintigraphy and lowerdose computed tomography urography in preoperative diagnostic workup of infant with extreme hydronephrosis. We presented the boy with antenatally diagnosed hydronephrosis. In serial, postnatal ultrasonography, renal scintigraphy and computed tomography urography we observed slightly declining function in the dilated kidney and increasing pelvic dilatation. Pyeloplasty was performed at the age of four months with good result. Results of ultrasonography and renal dynamic scintigraphy in child with extreme hydronephrosis can be difficult to asses, therefore before the surgical procedure a lower-dose computed tomography urography should be performed.

Prevalence and distribution of congenital abnormalities in Turkey: differences between the prenatal and postnatal periods.

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Oztarhan, Kazim; Gedikbasi, Ali; Yildirim, Dogukan; Arslan, Oguz; Adal, Erdal; Kavuncuoglu, Sultan; Ozbek, Sibel; Ceylan, Yavuz

2010-12-01

The aim of this study was to determine the distribution of cases associated with congenital abnormalities during the following three periods: pregnancy, birth, and the neonatal period. This was a retrospective study of cases between 2002 and 2006. All abnormal pregnancies, elective terminations of pregnancies, stillbirths, and births with congenital abnormalities managed in the Neonatology Unit were classified based on the above distribution scheme. During the 5-year study period, 1906 cases with congenital abnormalities were recruited, as follows: 640 prenatally detected and terminated cases, with most abnormalities related to the central nervous system, chromosomes, and urogenital system (56.7%, 12.7%, and 8.9%, respectively); 712 neonates with congenital abnormalities (congenital heart disease [49.2%], central nervous system abnormalities [14.7%], and urogenital system abnormalities [12.9%]); and hospital stillbirths, of which 34.2% had malformations (220 prenatal cases [34.4%] had multiple abnormalities, whereas 188 liveborn cases [26.4%] had multiple abnormalities). The congenital abnormalities rate between 2002 and 2006 was 2.07%. Systematic screening for fetal anomalies is the primary means for identification of affected pregnancies. © 2010 The Authors. Congenital Anomalies © 2010 Japanese Teratology Society.

Prenatal Diagnosis of Congenital Cytomegalovirus Infection

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Lazzarotto, T.; Guerra, B.; Spezzacatena, P.; Varani, S.; Gabrielli, L.; Pradelli, P.; Rumpianesi, F.; Banzi, C.; Bovicelli, L.; Landini, M. P.

1998-01-01

We report here the results of a study on the prenatal diagnosis of congenital cytomegalovirus (CMV) infection. The study was carried out by both PCR and virus isolation from amniotic fluid (AF) for 82 pregnant women at risk of transmitting CMV for the detection of (i) seroconversion to CMV immunoglobulin G (IgG) positivity during the first trimester of pregnancy, (ii) symptomatic CMV infection in the mother during the first trimester of pregnancy or intrauterine growth retardation detected by ultrasound or abnormal ultrasonographic findings suggestive of fetal infections, and (iii) seropositivity for CMV-specific IgM. For 50 women, fetal blood (FB) was also obtained and tests for antigenemia and PCR were performed. The results indicate that AF is better than FB for the prenatal diagnosis of CMV infection. PCR with AF has a sensitivity (SNS) of 100%, a specificity (SPE) of 83.3%, a positive predictive value (PPV) of 40%, and a negative predictive value (NPV) of 100%; rapid virus isolation with the same material has an SNS of 50%, an SPE of 100%, a PPV of 100%, and an NPV of 94.7%. Fewer than 10% of the women positive for IgM by enzyme immunoassay (EIA) had a congenitally infected fetus or newborn infant. When EIA IgM positivity was confirmed by Western blotting (WB) and the WB profile was considered, the percent transmission detected among women with an “at-risk” profile was higher than that observed among IgM-positive women and was the same as that among women who seroconverted during the first trimester of pregnancy (transmission rates of 29 and 25%, respectively). PMID:9817869

CONGENITAL MALFORMATIONS: PRENATAL DIAGNOSTICS AND NOVEL CONCEPTION OF MEDICAL HELP TO NEWBORNS

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Yu.F. Isakov

2007-01-01

Full Text Available Current views on basic prenatal diagnostics techniques, as ultrasound, maternal serum biochemical markers (alpha fetoprotein, human chorionic gonadotropin, and unconjugated estriol, and fetal biologic material (chorionic villus sampling, placenta, amniotic liquid, fetal blood, obtained with invasive techniques (chorion biopsy, amniocentesis, cordocentesis, its' efficacy and possible practical application are given in the article. These new conception announce to consolidate three branches providing maternal and children — welfare should consolidate maternal welfare outpatient clinics, maternal hospital and newborn surgery hospital — into one institute, thus allowing to success work of all stages, to avoid transportation and late surgical treatment, to reduce lethal outcomes following surgical treatment of congenital malformations. Primary results of implementation of this conception are presented in the article.Key words: prenatal diagnostics, newborns, congenital mal formations, prevention and prophylactics, diagnostics.

Outcomes of Isolated Antenatal Hydronephrosis at First Year of Life

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Orabi, Mutaz; Abozaid, Sameh; Sallout, Bahauddin; Abu Shaheen, Amani; Heena, Humariya; Al Matary, Abdulrahman

2018-01-01

Objectives To compare the grade of hydronephrosis between the antenatal and first postnatal ultrasound (US) and their clinical outcomes. Methods This retrospective study included all cases of isolated hydronephrosis detected by antenatal US from August 2005 to February 2011. Hydronephrosis was classified based on the standard criteria into mild, moderate, or severe. Cases associated with other major congenital anomalies were excluded. All patients were followed-up postnatally and outcomes available were analyzed at one year of age. Results A total of 105 cases were included out of which 83 (79.0%) were males and 22 (20.9%) were females with a median gestational age of 38 weeks. First postnatal US of 105 cases showed that 20 (19.0%) were free of hydronephrosis, 39 (37.1%) had mild, 29 (27.6%) moderate, and 17 (16.1%) had severe hydronephrosis. Half (50.4%) of hydronephrosis cases improved in their clinical presentation while 13.3% showed deterioration and 36.3% remained the same. Almost half of all cases (52 cases) were diagnosed by US at the end of first year without any effect on renal function. Conclusions Antenatal and postnatal US are sensitive tools for detecting hydronephrosis as well as for postnatal counseling. Fetal anatomy US is usually done at 18 weeks gestation and if this reveals any evidence of hydronephrosis, the patient is followed according to the severity. Postnatal US is not done routinely for cases where hydronephrosis resolves completely during pregnancy. Although newborns with antenatal hydronephrosis due to secondary causes are at greater risk for renal impairment, surgical intervention reserves renal function. PMID:29657681

Kidney and Urinary Tract Congenital Malformations. Diagnosis and Evolution. 1999- 2005

International Nuclear Information System (INIS)

Aguilera Bauza, Mirna Pilar; Pena Perez, Raul; Ramirez Prieto, Juan Romelio; Martinez Feria, Rafael; Parra Cruz, Mariela; Pena Hernandez, Miguel Antonio

2008-01-01

A descriptive study in 351 patients at the Nephrology and Urology Services at 'Octavio de la Concepcion de la Pedraja' Teaching Pediatric Hospital from January 1999 to December 2005, was carried out. 535 kidney and urinary tract congenital malformations of 19 types were diagnosed. Primary vesicoureteral reflux and ureteropyelic stenosis were the most frequently malformations. The majority of these patients were diagnosed during the first year of the life. The most frequently clinic manifestation was urinary tract infection. Ultrasound study and cystouretrography were effective to diagnose these malformations. The majority of patients with prenatal diagnosis had congenital hydronephrosis. Posterior urethral valves were the principal cause of chronic renal failure. The I, II and III grades of Primary Vesicoureteral Reflux disappeared spontaneously with conservative treatment. There was a direct relationship between Reflux Nephropathy and the grade of these malformations

Congenital hydrocephalus - prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Addor, Marie-Claude

2009-01-01

OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include...... defects were not included in the study. RESULTS: Eighty-seven cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.65 per 10,000 births. There were 41 livebirths (47%), four fetal deaths (5%) and 42 TOPFA (48%). Nine percent of all cases were from...

Congenital Nephrogenic Diabetes Insipidus Presented With Bilateral Hydronephrosis and Urinary Infection: A Case Report.

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Zheng, Kewen; Xie, Yi; Li, Hanzhong

2016-05-01

Nephrogenic diabetes insipidus (NDI) is a condition resulting from the kidney's impaired response to circulating antidiuretic hormone (ADH), leading to polydipsia and polyuria. Urinary tract dilatation caused by NDI is a rare situation. Here, we report a case of congenital NDI presented with bilateral hydronephrosis.A 15-year-old boy complaining a history of intermittent fever was admitted to Peking Union Medical College Hospital. He voided 10 to 15 L of urine daily. Radiographic examination revealed severe dilatation of bilateral renal pelvis, ureter, and bladder. Urinalysis shows hyposthenuria.He was diagnosed NDI since born. Transient insertion of a urethral catheter helped to relieve fever. Medical therapy of hydrochlorothiazide and amiloride was prescribed and effective.Dilatation of urinary tract caused by diabetes insipidus is rare, but may be present in severe condition. Therefore, it is crucial for clinicians to perform early treatment to avoid impairment of renal function.

Outcomes of Isolated Antenatal Hydronephrosis at First Year of Life

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Mutaz Orabi

2018-03-01

Full Text Available Objectives: To compare the grade of hydronephrosis between the antenatal and first postnatal ultrasound (US and their clinical outcomes. Methods: This retrospective study included all cases of isolated hydronephrosis detected by antenatal US from August 2005 to February 2011. Hydronephrosis was classified based on the standard criteria into mild, moderate, or severe. Cases associated with other major congenital anomalies were excluded. All patients were followed-up postnatally and outcomes available were analyzed at one year of age. Results: A total of 105 cases were included out of which 83 (79.0% were males and 22 (20.9% were females with a median gestational age of 38 weeks. First postnatal US of 105 cases showed that 20 (19.0% were free of hydronephrosis, 39 (37.1% had mild, 29 (27.6% moderate, and 17 (16.1% had severe hydronephrosis. Half (50.4% of hydronephrosis cases improved in their clinical presentation while 13.3% showed deterioration and 36.3% remained the same. Almost half of all cases (52 cases were diagnosed by US at the end of first year without any effect on renal function. Conclusions: Antenatal and postnatal US are sensitive tools for detecting hydronephrosis as well as for postnatal counseling. Fetal anatomy US is usually done at 18 weeks gestation and if this reveals any evidence of hydronephrosis, the patient is followed according to the severity. Postnatal US is not done routinely for cases where hydronephrosis resolves completely during pregnancy. Although newborns with antenatal hydronephrosis due to secondary causes are at greater risk for renal impairment, surgical intervention reserves renal function.

Congenital anomalies of the urinary tract.

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Pohl, Hans G; Belman, A Barry

2014-01-01

The upper urinary tract forms as a consequence of the reciprocal inductive signals between the metanephric mesenchyme and ureteric bud. A clue to the timing of events leading to an abnormality of the upper urinary tract can be the presence also of associated anomalies of internal genitalia since separation of these systems occurs at about the 10th week of gestation. Prenatal sonography has facilitated the detection of urological abnormalities presenting with hydronephrosis. Hydronephrosis suggests obstruction, but by itself cannot be equated with it. Instead, further radiographic imaging is required to delineate anatomy and function. Now, moreover, non-surgical management of CAKUT should be considered whenever possible. Despite the widespread use of prenatal screening sonography that usually identifies the majority of congenital anomalies of the urinary tract, many children still present with febrile urinary tract infection (UTI). Regardless of the etiology for the presentation, the goal of management is preservation of renal function through mitigation of the risk for recurrent UTI and/or obstruction. In the past many children underwent surgical repair aimed at normalization of the appearance of the urinary tract. Today, management has evolved such that in most cases surgical reconstruction is performed only after a period of observation - with or without urinary prophylaxis. The opinions presented in this section are not espoused by all pediatric urologists but represent instead the practice that has evolved at Children's National Medical Center (Washington DC) based significantly on information obtained by nuclear renography, in addition to sonography and contrast cystography.

Hydronephrosis

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... Events Advocacy Donate A to Z Health Guide Hydronephrosis Print Email Hydronephrosis is the swelling of a kidney due to ... to the bladder from a blockage or obstruction. Hydronephrosis can occur in one or both kidneys. The ...

Postnatal monitoring of prenatal diagnosed hydro nephrosis

International Nuclear Information System (INIS)

Bueva, A.; Stefanov, S.; Palashev, Y.

2011-01-01

Ultrasound has revolutionized pediatric nephrology in the last decades and has a major impact on management and treatment of several children's kidneys diseases. Hydronephrosis is the most common anomaly in childhood. Progress in fetal imaging in the last years has a important impact in diagnosing congenital hydronephrosis. The current study try to establish authors opinion on problem over coming in the every day practice in pediatric nephrologist - is surgery mandatory in high grade pediatric hydronephrosis. A discussion is undergoing in the literature, following communications that high grade hydronephrosis tend spontaneously to regress in more that 65% according to Koff (2000, 2008)

Prenatal diagnosis of congenital ranula: Case Report

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Aytül Çorbacıoğlu Esmer

2013-12-01

Full Text Available Congenital ranula is a mucous retention cyst which originates from the base of the oral cavity and is caused by sublingual or submandibular canal atresia or canalization defect. As with the other tumors in the oral cavity it may cause upper airway obstruction and hypoxia immediately after delivery. In the following stages of life, apart from the respiratory problems it may cause speach, chewing and swallowing disorders. The prenatal diagnosis of congenital sublingual ranula is very rare, and it presents as an avascular and anechoic cystic mass displacing the tongue upwards on fetal ultrasonography. Polyhydramnios can develop due to the obstruction and stomach may not be visualized. The differential diagnosis includes lymphatic malformations, epulis, epignatus, tyroglossal canal cyst and hemangioma. In this paper, we present a case of ranula which was diagnosed during prenatal ultrasonographic examination. The detailed fetal ultrasound scan performed at the 31th week of gestation revealed a non-septated anechoic cyst in the oral cavity measuring 20 x 17 x 15 mm. The cyst had well-defined regular borders with no solid component. Doppler ultrasonograhy did not show any vascularization within the cyst. After the delivery at the 38th week of gestation, a sublingual cystic mass with regular borders measuring 1.5 x1.5 cm was detected in the mouth of the neonate. Entubation was not required due to the absence of respiratory distress. In order to prevent difficutlies in feeding, the cystic mass was aspirated just after the delivery. A diagnosis of sublingual ranula was made based on the localization and the mucoid consistency of the cyst.

Congenital toxoplasmosis and prenatal care state programs

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2014-01-01

Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the

Birth prevalence of congenital cytomegalovirus among infants of HIV-infected women on prenatal antiretroviral prophylaxis in South Africa.

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Manicklal, S; van Niekerk, A M; Kroon, S M; Hutto, C; Novak, Z; Pati, S K; Chowdhury, N; Hsiao, N Y; Boppana, S B

2014-05-01

A high rate of congenital cytomegalovirus (CMV) has been documented in human immunodeficiency virus (HIV)-exposed infants in industrialized settings, both in the pre- and post-highly active antiretroviral therapy (HAART) era. Only limited data on the birth prevalence of congenital CMV among infants of HIV-infected women on prenatal antiretroviral (ARV) prophylaxis are available from sub-Saharan Africa, despite a high prevalence of both infections. We evaluated the prevalence of congenital CMV in HIV-exposed infants in the Western Cape, South Africa. HIV-infected mothers were recruited in the immediate postnatal period at a referral maternity hospital between April and October 2012. Maternal and infant clinical data and newborn saliva swabs were collected. Saliva swabs were assayed by real-time polymerase chain reaction for CMV. Data were analyzed using univariate and multivariate logistic regression analyses to determine specific demographic, maternal, and newborn characteristics associated with congenital CMV. CMV was detected in 22 of 748 newborn saliva swabs (2.9%; 95% confidence interval [CI], 1.9%-4.4%). Overall, 96% of mothers used prenatal ARV prophylaxis (prenatal zidovudine, 43.9%; HAART, 52.1%). Maternal age, gestational age, prematurity (CMV-infected and -uninfected infants. Maternal CD4 count CMV (adjusted odds ratio, 2.9; 95% CI, 1.2-7.3). A negative correlation between CMV load in saliva and maternal CD4 count was observed (r = -0.495, n = 22, P = .019). The birth prevalence of congenital CMV was high despite prenatal ARV prophylaxis, and was associated with advanced maternal immunosuppression.

Usefulness of additional fetal magnetic resonance imaging in the prenatal diagnosis of congenital abnormalities.

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We, Ji Sun; Young, Lee; Park, In Yang; Shin, Jong Chul; Im, Soo Ah

2012-12-01

Our aim was to compare the value of fetal magnetic resonance imaging (MRI) with detailed ultrasound in the prenatal diagnosis of congenital abnormalities. This retrospective study reviewed the medical records of pregnant women and their neonates who, after ultrasound, were suspected to have congenital abnormalities. They then underwent a detailed ultrasound examination and a fetal MRI in our institutions. Fetal MRI was performed in 81 cases. Each prenatal presumptive diagnosis, based on detailed ultrasound examination and fetal MRI, was compared with the postnatal confirmed diagnosis. In 58 cases, the data collected were confirmed by the postnatal diagnosis. Supplemental information from fetal MRI was useful in 17 of the 22 cases involving the central nervous system (CNS), two of two cases involving the thorax, nine of nine cases involving the genitourinary system, two of eight cases involving the gastrointestinal system, and ten of ten cases involving complex malformations. Fetal MRI did not provide significantly useful information or facilitate a more accurate diagnosis except for CNS abnormalities. Fetal MRI was not superior to an ultrasound examination in the prenatal detection of congenital abnormalities. A detailed ultrasound examination performed by experienced obstetricians had satisfactory accuracy in the diagnosis of fetal abnormalities compared with fetal MRI. Fetal MRI might be useful in appropriate cases in Korea. Greater effort is required to increase the ultrasound knowledge and skill of competent obstetricians.

Prenatal diagnosis of congenital toxoplasmosis: comparative value of fetal blood and amniotic fluid using serological techniques and cultures.

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Fricker-Hidalgo, H; Pelloux, H; Muet, F; Racinet, C; Bost, M; Goullier-Fleuret, A; Ambroise-Thomas, P

1997-09-01

The prenatal diagnosis of congenital toxoplasmosis is mainly based on biological tests performed on fetal blood and amniotic fluid. We studied the performance of neonatal diagnosis procedures and the results of fetal blood and amniotic fluid analysis. Of 127 women who contracted toxoplasmosis and underwent prenatal diagnosis, the postnatal serological follow-up was long enough to definitively diagnose congenital toxoplasmosis in 19 cases and to exclude it in 27 cases. Prenatal diagnosis allowed the detection of 94.7 per cent (18/19) of the infected fetuses. The sensitivities of tests in amniotic fluid and fetal blood were equivalent, 88.2 per cent (15/17) and 87.5 per cent (14/16), respectively. In fetal blood, biological techniques were positive in 12/16 cases and in 2/16 cases, serological tests were the only positive sign. The specificities of tests in amniotic fluid and fetal blood were respectively 100 per cent (23/23) and 86.3 per cent (19/22) (three false-positive serological results). These results, added to the lower morbidity of amniocentesis compared with cordocentesis, might lead to cordocentesis being abandoned in the prenatal diagnosis of congenital toxoplasmosis.

Hydronephrosis of one kidney

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Hydronephrosis; Chronic hydronephrosis; Acute hydronephrosis; Urinary obstruction; Unilateral hydronephrosis; Nephrolithiasis - hydronephrosis; Kidney stone - hydronephrosis; Renal calculi - hydronephrosis; ...

Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening

DEFF Research Database (Denmark)

Jørgensen, Ditte E S; Vejlstrup, Niels; Jørgensen, Connie

2015-01-01

OBJECTIVES: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS: Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed...

[Laparoscopic pyeloplasty for hydronephrosis of horseshoe kidney].

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Guliev, B G

2016-11-01

Horseshoe kidney is often associated with other congenital abnormalities and obstruction of pyeloureteral segment (PUS). The aim of our study was to evaluate the results of laparoscopic pyeloplasty (LP) in patients with hydronephrosis of horseshoe kidney. From February 2010 to March 2016, 130 patients underwent LP. Ten (7.7%) of them (6 men and 4 women) had a hydronephrosis of horseshoe kidney. Left and right PUS obstruction were diagnosed in 6 and 4 patients, respectively. All the patients underwent PL transperitoneally using the Anderson-Hynes method. In patients with left hydronephrosis, surgery was performed by transmesenteric access. There were no cases of conversion to open surgery and drainage urine leakage. Exacerbation of chronic pyelonephritis was observed in 2 cases. Operating time ranged from 125 to 160 minutes (median 130 minutes), time of performing pyeloureteral anastomosis - from 50 to 105 minutes. Patients were ambulated within the first day after surgery, the length of hospital stay was 3 - 4 days. One patient with recurrent strictures of PUS 8 months after the LP underwent retrograde endopyelotomy with the placement of endopyelotomy stent. The effectiveness of operations over a 6-38 month follow-up was 90%. LP is an effective and minimally invasive treatment for patients with hydronephrosis of horseshoe kidney. In a left PUS obstruction, pyeloplasty can be performed using transmesenteric access.

Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving

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Prusa, Andrea-Romana; Kasper, David C.; Sawers, Larry; Walter, Evelyn; Hayde, Michael

2017-01-01

Background Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications, encephalitis, splenomegaly, hearing loss, blindness, and death. Austria, a country with moderate seroprevalence, instituted mandatory prenatal screening for toxoplasma infection to minimize the effects of congenital transmission. This work compares the societal costs of congenital toxoplasmosis under the Austrian national prenatal screening program with the societal costs that would have occurred in a No-Screening scenario. Methodology/Principal findings We retrospectively investigated data from the Austrian Toxoplasmosis Register for birth cohorts from 1992 to 2008, including pediatric long-term follow-up until May 2013. We constructed a decision-analytic model to compare lifetime societal costs of prenatal screening with lifetime societal costs estimated in a No-Screening scenario. We included costs of treatment, lifetime care, accommodation of injuries, loss of life, and lost earnings that would have occurred in a No-Screening scenario and compared them with the actual costs of screening, treatment, lifetime care, accommodation, loss of life, and lost earnings. We replicated that analysis excluding loss of life and lost earnings to estimate the budgetary impact alone. Our model calculated total lifetime costs of €103 per birth under prenatal screening as carried out in Austria, saving €323 per birth compared with No-Screening. Without screening and treatment, lifetime societal costs for all affected children would have been €35 million per year; the implementation costs of the Austrian program are less than €2 million per year. Calculating only the budgetary impact, the national program was still cost-saving by more than €15 million per year and saved €258 million in 17 years. Conclusions/Significance Cost savings under a national program of

Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving.

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Andrea-Romana Prusa

2017-07-01

Full Text Available Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications, encephalitis, splenomegaly, hearing loss, blindness, and death. Austria, a country with moderate seroprevalence, instituted mandatory prenatal screening for toxoplasma infection to minimize the effects of congenital transmission. This work compares the societal costs of congenital toxoplasmosis under the Austrian national prenatal screening program with the societal costs that would have occurred in a No-Screening scenario.We retrospectively investigated data from the Austrian Toxoplasmosis Register for birth cohorts from 1992 to 2008, including pediatric long-term follow-up until May 2013. We constructed a decision-analytic model to compare lifetime societal costs of prenatal screening with lifetime societal costs estimated in a No-Screening scenario. We included costs of treatment, lifetime care, accommodation of injuries, loss of life, and lost earnings that would have occurred in a No-Screening scenario and compared them with the actual costs of screening, treatment, lifetime care, accommodation, loss of life, and lost earnings. We replicated that analysis excluding loss of life and lost earnings to estimate the budgetary impact alone. Our model calculated total lifetime costs of €103 per birth under prenatal screening as carried out in Austria, saving €323 per birth compared with No-Screening. Without screening and treatment, lifetime societal costs for all affected children would have been €35 million per year; the implementation costs of the Austrian program are less than €2 million per year. Calculating only the budgetary impact, the national program was still cost-saving by more than €15 million per year and saved €258 million in 17 years.Cost savings under a national program of prenatal screening for toxoplasma infection and

Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving.

Science.gov (United States)

Prusa, Andrea-Romana; Kasper, David C; Sawers, Larry; Walter, Evelyn; Hayde, Michael; Stillwaggon, Eileen

2017-07-01

Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications, encephalitis, splenomegaly, hearing loss, blindness, and death. Austria, a country with moderate seroprevalence, instituted mandatory prenatal screening for toxoplasma infection to minimize the effects of congenital transmission. This work compares the societal costs of congenital toxoplasmosis under the Austrian national prenatal screening program with the societal costs that would have occurred in a No-Screening scenario. We retrospectively investigated data from the Austrian Toxoplasmosis Register for birth cohorts from 1992 to 2008, including pediatric long-term follow-up until May 2013. We constructed a decision-analytic model to compare lifetime societal costs of prenatal screening with lifetime societal costs estimated in a No-Screening scenario. We included costs of treatment, lifetime care, accommodation of injuries, loss of life, and lost earnings that would have occurred in a No-Screening scenario and compared them with the actual costs of screening, treatment, lifetime care, accommodation, loss of life, and lost earnings. We replicated that analysis excluding loss of life and lost earnings to estimate the budgetary impact alone. Our model calculated total lifetime costs of €103 per birth under prenatal screening as carried out in Austria, saving €323 per birth compared with No-Screening. Without screening and treatment, lifetime societal costs for all affected children would have been €35 million per year; the implementation costs of the Austrian program are less than €2 million per year. Calculating only the budgetary impact, the national program was still cost-saving by more than €15 million per year and saved €258 million in 17 years. Cost savings under a national program of prenatal screening for toxoplasma infection and treatment are

Pediatric Vesicoureteral Reflux Guidelines Panel Summary Report: Clinical Practice Guidelines for Screening Siblings of Children With Vesicoureteral Reflux and Neonates/Infants With Prenatal Hydronephrosis.

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Skoog, Steven J; Peters, Craig A; Arant, Billy S; Copp, Hillary L; Elder, Jack S; Hudson, R Guy; Khoury, Antoine E; Lorenzo, Armando J; Pohl, Hans G; Shapiro, Ellen; Snodgrass, Warren T; Diaz, Mireya

2010-09-01

The American Urological Association established the Vesicoureteral Reflux Guideline Update Committee in July 2005 to update the management of primary vesicoureteral reflux in children guideline. The Panel defined the task into 5 topics pertaining to specific vesicoureteral reflux management issues, which correspond to the management of 3 distinct index patients and the screening of 2 distinct index patients. This report summarizes the existing evidence pertaining to screening of siblings and offspring of index patients with vesicoureteral reflux and infants with prenatal hydronephrosis. From this evidence clinical practice guidelines are developed to manage the clinical scenarios insofar as the data permit. The Panel searched the MEDLINE(R) database from 1994 to 2008 for all relevant articles dealing with the 5 chosen guideline topics. The database was reviewed and each abstract segregated into a specific topic area. Exclusions were case reports, basic science, secondary reflux, review articles and not relevant. The extracted article to be accepted should have assessed a cohort of children, clearly stating the number of children undergoing screening for vesicoureteral reflux. Vesicoureteral reflux should have been diagnosed with a cystogram and renal outcomes assessed by nuclear scintigraphy. The screening articles were extracted into data tables developed to evaluate epidemiological factors, patient and renal outcomes, and results of treatment. The reporting of meta-analysis of observational studies elaborated by the MOOSE group was followed. The extracted data were analyzed and formulated into evidence-based recommendations regarding the screening of siblings and offspring in index cases with vesicoureteral reflux and infants with prenatal hydronephrosis. In screened populations the prevalence of vesicoureteral reflux is 27.4% in siblings and 35.7% in offspring. Prevalence decreases at a rate of 1 screened person every 3 months of age. The prevalence is the same

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

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Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

2016-01-01

A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. © 2016 S. Karger AG, Basel.

Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

NARCIS (Netherlands)

Garne, E; Loane, M; de Vigan, C; Scarano, G; de Walle, H; Gillerot, Y; Stoll, C; Addor, MC; Stone, D; Gener, B; Feijoo, M; Mosquera-Tenreiro, C; Gatt, M; Queisser-Luft, A; Baena, N; Dolk, H

2004-01-01

Objective To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. Design

Renal dynamic functional scintigraphy in children with congenital urinary tract anomalies

International Nuclear Information System (INIS)

Cui Ruixue; Zhou Qian

2000-01-01

Objective: To clarify the characteristics of renal scintigraphy in children with various congenital urinary tract anomalies and to evaluate their clinical significance. Methods: 51 children with congenital urinary tract anomalies were studied by 99 Tc m -DTPA renal dynamic functional scintigraphy (RDFS)). Among them, 8 cases were studied by diuretic renography in addition. Results: RDFS provided: 1) Both the morphological information of anomalies and the split renal function. 2) Localization of the site of urinary tract obstruction. In case of pelviureteric junction obstruction, the hydronephrosis was usually severe but with normal size ureter, whereas in ureterovesical junction obstruction the hydronephrosis was less severe but with dilatation of ureter. In case of lower urinary tract obstruction, the hydronephrosis and hydroureter were bilateral. Diuretic renography differentiated obstructive from non-obstructive hydronephrosis. By comparing pre-and post operative studies, it was easy to evaluate the recovery of renal function. Conclusions: RDFS is a valuable modality for giving both anatomical and functional information in children with congenital urinary tract anomalies and the authors suggest it should be used more popularly in Pediatrics

Resolution rate of isolated low-grade hydronephrosis diagnosed within the first year of life.

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Madden-Fuentes, Ramiro J; McNamara, Erin R; Nseyo, Unwanaobong; Wiener, John S; Routh, Jonathan C; Ross, Sherry S

2014-08-01

Diagnosis of low-grade hydronephrosis often occurs prenatally, during evaluation after urinary tract infection (UTI), or imaging for non-urologic reasons within the first year of life. Its significance in terms of resolution, need for antibiotic prophylaxis, or progression to surgery remains uncertain. We hypothesized that isolated low-grade hydronephrosis in this population frequently resolves, UTIs are infrequent, and progression to surgical intervention is minimal. Children hydronephrosis (Society for Fetal Urology [SFU] grade 1 or 2) between January 2004 and December 2009 were identified by ICD9 code. Patients with other urological abnormalities were excluded. Stability of hydronephrosis, UTI (≥ 100,000 CFU/mL bacterial growth) or need for surgical intervention was noted. Of 1496 infants with hydronephrosis, 416 (623 renal units) met inclusion criteria. Of 398 renal units with grade 1 hydronephrosis, 385 (96.7%) resolved or remained stable. Only 13 (3.3%) worsened, of which one underwent ureteroneocystostomy. Of 225 renal units with grade 2 hydronephrosis, 222 (98.7%) resolved, improved or remained stable, three (1.3%) worsened, of which one required pyeloplasty. Only 0.7% of patients in the ambulatory setting had a febrile UTI. Low-grade hydronephrosis diagnosed within the first year of life remains stable or improves in 97.4% of renal units. Given the low rate of recurrent UTI in the ambulatory setting, antibiotic prophylaxis has a limited role in management. Copyright © 2014. Published by Elsevier Ltd.

Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.

Science.gov (United States)

Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron

2007-07-01

To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

Congenital Malformations Associated with Maternal Diabetes

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2005-03-01

Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly

Directory of Open Access Journals (Sweden)

Arshad Bhat, MBBS, DMRD

2016-06-01

Full Text Available Three case reports of a rare congenital anomaly “limb-body wall complex” also known as “body stalk syndrome” are presented with prenatal ultrasonographic diagnostic features, immediate after delivery evaluation, and histopathologic analysis.

Prenatal screening for major congenital heart disease: assessing performance by combining national cardiac audit with maternity data.

Science.gov (United States)

Gardiner, Helena M; Kovacevic, Alexander; van der Heijden, Laila B; Pfeiffer, Patricia W; Franklin, Rodney Cg; Gibbs, John L; Averiss, Ian E; Larovere, Joan M

2014-03-01

Determine maternity hospital and lesion-specific prenatal detection rates of major congenital heart disease (mCHD) for hospitals referring prenatally and postnatally to one Congenital Cardiac Centre, and assess interhospital relative performance (relative risk, RR). We manually linked maternity data (3 hospitals prospectively and another 16 retrospectively) with admissions, fetal diagnostic and surgical cardiac data from one Congenital Cardiac Centre. This Centre submits verified information to National Institute for Cardiovascular Outcomes Research (NICOR-Congenital), which publishes aggregate antenatal diagnosis data from infant surgical procedures. We included 120 198 unselected women screened prospectively over 11 years in 3 maternity hospitals (A, B, C). Hospital A: colocated with fetal medicine, proactive superintendent, on-site training, case-review and audit, hospital B: on-site training, proactive superintendent, monthly telemedicine clinics, and hospital C: sonographers supported by local obstetrician. We then studied 321 infants undergoing surgery for complete transposition (transposition of the great arteries (TGA), n=157) and isolated aortic coarctation (CoA, n=164) screened in hospitals A, B, C prospectively, and 16 hospitals retrospectively. 385 mCHD recorded prospectively from 120 198 (3.2/1000) screened women in 3 hospitals. Interhospital relative performance (RR) in Hospital A:1.68 (1.4 to 2.0), B:0.70 (0.54 to 0.91), C:0.65 (0.5 to 0.8). Standardised prenatal detection rates (funnel plots) demonstrating inter-hospital variation across 19 hospitals for TGA (37%, 0.00 to 0.81) and CoA (34%, 0.00 to 1.06). Manually linking data sources produced hospital-specific and lesion-specific prenatal mCHD detection rates. More granular, rather than aggregate, data provides meaningful feedback to improve screening performance. Automatic maternal and infant record linkage on a national scale, requires verified, prospective maternity audit and integration of

Prenatal and postnatal MR findings of a congenital hemangioma: a case report

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Choi, Kyung Hee; Chang, Yun Woo; Lee, Jung Jai; Lee, Woo Ryung [Soonchunhyang University Hospital, Seoul (Korea, Republic of); Kim, Young Wha [Inje University Seoul Paik Hospital, Seoul (Korea, Republic of)

2007-12-15

Hemangiomas are common benign soft tissue tumors found in pediatrics. Knowledge of prenatal image findings for hemangiomas can be essential for ensuring optimal antepartum and postpartum care. In this study, we provide a report the MR findings of a congenital hemangioma in the posterior neck region, which was different from the pre and postnatal image findings as well as a literature review.

Pre- and postnatal ultrasound and MRI imaging of the obstructive uropathies

International Nuclear Information System (INIS)

Balev, B.; Bliznakova, D.; Popova, R.; Baleva, D.

2013-01-01

Full text: Introduction: Hydronephrosis is the most common congenital pathology that is detected on prenatal ultrasound. Prenatal established unilateral or bilateral hydronephrosis is an increased risk for postnatal pathology, such as the severity of the disease is directly related to the degree of retention antenatal. The most used method to detect the hydronephrosis is the measurement of front - back size of the basin of the fetus. What you will learn: The need to actively seek for prenatal retention due to the high frequency of anomalies; To distinguish degrees of fetal hydronephrosis in different periods of prenatal development; Algorithm for behavior in case of hydronephrosis detection - frequency of the control ultrasound examination and consultation with pediatric nephrologist; Indications for use of a supplementary method - pre-and postnatal MRI and MR urography. Discussion: The degree of retention is mild, moderate and severe, depending on the size of the pelvis during different periods of pregnancy. Postnatal pathology is established at 11% in fetuses with mild hydronephrosis in 45% medium and 88% with severe hydronephrosis. The condition is subject to monitoring during pregnancy, in the first month after birth, and by the end of the first year. MRI is established as a specifying alternate method as pre- and postnatally in severe hydronephrosis and suspecting for concomitant pathology. We present our results of prenatal ultrasound and MRI as well as postnatal follow-up of children with hydronephrosis. Conclusion: The results of imaging studies directly influence on the appropriate therapeutic approach. MRI study of the urogenital system is an addition of ultrasound in prenatal periods and an alternative to contrast x-ray after the birth. The objective is to preserve the renal function and to prevent the urinary tract infections later in life by antibiotic prophylaxis

Unilateral hydronephrosis with congenital absence of contralateral kidney in children

International Nuclear Information System (INIS)

Muren, C.; Wikstad, I.

1988-01-01

The case histories of six children with absence of functioning renal parenchyma on one side and dilatation of the contralateral pelvis are reviewed. The hydronephrosis was obstructive in two cases. In the others no cause could be found. The development of this combination of renal malformations is discussed against an embryologic background. (orig.)

Congenital cystic adenomatoid malformations (CCAM) - prenatal MRI diagnosis: a case report

International Nuclear Information System (INIS)

Gagov, E.; Iieva, E.; Gvanska, G.

2012-01-01

Full text: Congenital Cystic Adenomatoid Malformation/CCAM (recently termed Congenital Pulmonary Airway Malformation/CPAM) is a rare lung lesion that is believed to result from a cessation of bronchiolar maturation with overgrowth of mesenchymal elements. The differential diagnosis of a mass in the fetal thorax includes CCAM/CPAM, congenital diaphragmatic hernia, and pulmonary sequestration. We present a case of CCAM/CPAM detected on prenatal ultrasound examination with prenatal magnetic resonance imaging (MRI) correlation. A multicystic lesion in the right hemithorax of the fetus was identified on ultrasound at 26th weeks of gestation which was slightly increasing in size on follow-up examinations. MRI was performed for further evaluation and selecting the appropriate management. On MRI the lesion was confined to the right middle lobe, consisting of a single large 3 cm cyst surrounded by multiple smaller cysts and compressed normal parenchyma of the upper and lower lobes of the right lung (type I, Stocker and al. classification). No mediastinal shift or other abnormalities to the contralateral lung were detected. No complications, such as hydrothorax or polyhydramnios were identified. Based on the MR findings postnatal surgical removal of the lung lesion was planned. Continuous weekly ultrasound follow-up examination was recommended. Improvements in magnetic resonance imaging (MRI) now permit diagnostic images of the fetus to be obtained. Ultrasound (US) remains vital in all aspects of fetal imaging but MR serves as a useful second line imaging test. MR imaging can provide excellent tissue contrast with more accurate analysis of the fetal anatomy and superior differentiation between the abnormalities and adjacent structures, thereby allowing early planning of pre- and postnatal management

[Performance of prenatal diagnosis and postnatal development of congenital lung malformations].

Science.gov (United States)

Desseauve, D; Dugué-Marechaud, M; Maurin, S; Gatibelza, M-È; Vequeau-Goua, V; Mergy-Laurent, M; Levard, G; Pierre, F

2015-04-01

For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive

Pattern-based approach to fetal congenital cardiovascular anomalies using the transverse aortic arch view on prenatal cardiac MRI

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Dong, Su-Zhen; Zhu, Ming [Shanghai Jiaotong University School of Medicine, Department of Radiology, Shanghai Children' s Medical Center, Shanghai (China)

2015-05-01

Fetal echocardiography is the imaging modality of choice for prenatal diagnosis of congenital cardiovascular anomalies. However, echocardiography has limitations. Fetal cardiac magnetic resonance imaging (MRI) has the potential to complement US in detecting congenital cardiovascular anomalies. This article draws on our experience; it describes the transverse aortic arch view on fetal cardiac MRI and important clues on an abnormal transverse view at the level of the aortic arch to the diagnosis of fetal congenital cardiovascular anomalies. (orig.)

Pattern-based approach to fetal congenital cardiovascular anomalies using the transverse aortic arch view on prenatal cardiac MRI

International Nuclear Information System (INIS)

Dong, Su-Zhen; Zhu, Ming

2015-01-01

Fetal echocardiography is the imaging modality of choice for prenatal diagnosis of congenital cardiovascular anomalies. However, echocardiography has limitations. Fetal cardiac magnetic resonance imaging (MRI) has the potential to complement US in detecting congenital cardiovascular anomalies. This article draws on our experience; it describes the transverse aortic arch view on fetal cardiac MRI and important clues on an abnormal transverse view at the level of the aortic arch to the diagnosis of fetal congenital cardiovascular anomalies. (orig.)

Giant hydronephrosis in horseshoe kidney

International Nuclear Information System (INIS)

Huesh, I-V. Malla; Zlatareva, D.; Milenova, V.; Krasteva, R.; Bogov, B.

2016-01-01

Horseshoe kidney, also known as ren arcuatus is a congenital anomaly with incidence 1 in 500 people and it is more common in males. Usually this anomaly is asymptomatic and most of the cases are undiagnosed. This condition may contribute to upper Gl tract dyspeptic syndrome, abdominal discomfort, nephrolithiasis and frequent infections of the urinary system. Horseshoe kidney may lead to complications such as renal obstruction, recurrent inflammatory conditions and malignant diseases. The authors describe the case of 58y.o. male who had suffered acute renal failure. The patient presented with pain in the lumbar area and abode the symphysis, reduction of diuresis and fever 38° C. The laboratory findings showed slight anemic syndrome and preserved renal function. The US examination revealed low positioned right kidney with enlarged sizes and numerous cysts. The left kidney was visualized as gigantic hydronephrosis. Color and Power Doppler didn't show signal from the vessels. MRT of the abdomen and pelvis was performed with intravenous application of contrast medium. The examination showed horseshoe kidney with excessive hydro-nephrosis with massive dilation of the pyelocalyceal system and reduced parenchyma

Hydronephrosis in the course of ureteropelvic junction obstruction: An underestimated problem? Current opinions on the pathogenesis, diagnosis and treatment.

Science.gov (United States)

Krajewski, Wojciech; Wojciechowska, Joanna; Dembowski, Janusz; Zdrojowy, Romuald; Szydełko, Tomasz

2017-08-01

Ureteropelvic junction obstruction (UPJO) causes a reduction in the urine flow from the renal pelvis into the ureter. Untreated UPJO may cause hydronephrosis, chronic infection or urolithiasis and will often result in progressive deterioration of renal function. Most cases of UPJO are congenital; however, the disease can be clinically silent until adulthood. Other causes, both intrinsic and extrinsic, are acquired and include urolithiasis, post-operative/inflammatory/ischemic stricture, fibroepithelial polyps, adhesions and malignancy. In the past, the most frequent symptom of UPJO in neonates and infants was a palpable flank mass. Nowadays, thanks to the widespread use of maternal and prenatal ultrasound examinations, asymptomatic hydronephrosis is diagnosed very early. In adults and older children symptoms may include intermittent abdominal or flank pain, nausea, vomiting and hematuria. In addition to high specificity and sensitivity in detecting UPJO, modern technologically advanced equipment such as ultrasound, magnetic resonance imaging and computed tomography provides a lot of information about the function of the affected kidney and the anatomy of the surrounding tissues. Treatment options for UPJO include a wide spectrum of approaches, from active surveillance or minimally invasive endourologic techniques to open, laparoscopic or robotic pyeloplasty. The main goal of therapy is to relieve symptoms and maintain or improve renal function, but it is difficult to define treatment success after UPJO therapy.

Duplicated collecting system of a kidney complicated with hydronephrosis - diagnostic methods review: A case report

International Nuclear Information System (INIS)

Osmanski, P.; Plucinska, I.; Calka, K.; Kedzierski, B.; Jazwiec, P.

2008-01-01

Duplicated collecting system of a kidney occurs in 1.7-4.2% of the population. It is a complex, unilateral or bilateral, congenital abnormality of the pyelocalyceal system and the ureter. The 2 ureters fuse to form a single ureteral orifice or empty separately into the bladder (ureter duplex). Duplicated collecting systems with complete ureteric duplication may lead to developing vesicoureteral reflux, hydronephrosis, and urinary infection. This article presents a case of a 49-year-old woman with duplicated collecting system and hydronephrosis in the upper pole. The anomaly was diagnosed using urography, ultrasonography and computed tomography examination.The best method for diagnostics of the duplicated pyelocalyceal system complicated by hydronephrosis is computed tomography examination, especially multislice computed tomography. The authors present also the options for therapy (author)

Diuretic renography in neonates and infants with congenital obstructive hydronephrosis for evaluating post-operative renal function

International Nuclear Information System (INIS)

Li Jianing; Yang Shurong; Fu Hongliang; Gu Zhenhui; Chen Fang; Xie Hua; Zou Renjian; Wu Jingchuan

2003-01-01

Objective: To study the value of diuretic renography (DR) in evaluation of renal function after operation in congenital obstructive hydronephrosis (HN) in neonates and infants. Methods: Thirty-two patients with the disease detected in their neonatal or infantile period were submitted to this study. DR was performed 1 to 4 times on all patients during follow-up. The qualitative evaluation of renal function after operation was combined with renal morphology, renogram curve and several other renal function indexes. The major index of quantitative evaluation of renal function is the change of renal blood perfusion rate (BPR). Results: The results of qualitative evaluation with 67 DR in the affected kidney (AK): 6 totally recovered, 35 significantly improved, 7 improved, 9 unchanged, 10 deteriorated. The changes of BPR of the groups with qualitative evaluation differed from each other significantly (F=7.77, P 0.05 and r=0.166, P>0.05, respectively). Conclusion: The change of BPR is a good index of renal function after operation, but only the quantitative evaluation being combined with qualitative evaluation can be considered a complete evaluation

Antenatal hydronephrosis: Negative predictive value of normal postnatal ultrasound - a 5-year study

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Moorthy, I.; Joshi, N.; Cook, J.V. E-mail: jcook@epsom-sthelier.nhs.uk; Warren, M

2003-12-01

AIM: To determine whether normal postnatal ultrasound, as part of a strict screening protocol for the detection and follow-up of antenatal hydronephrosis, effectively excludes the majority of babies with congenital urinary tract abnormalities that would otherwise present with a urinary tract infection. MATERIALS AND METHODS: We retrospectively reviewed all babies who had postnatal follow-up of antenatally detected hydronephrosis over a 5-year period at our institution, a district general Trust with a specialist paediatric unit. We then studied all babies presenting with urinary tract infection before their first birthday to our institution over the same period. By cross-referencing these two study groups we were able to determine which babies developed a urinary tract infection having been previously discharged after normal postnatal ultrasound. RESULTS: Four hundred and twenty-five babies had postnatal follow-up of antenatal hydronephrosis. Of these, 284 were investigated with ultrasound alone. In the same 5-year period, 230 babies presented with urinary tract infection before their first birthday. Only three of these babies had been previously discharged after normal postnatal ultrasound. The negative predictive value of a normal postnatal ultrasound was therefore 98.9% (281/284) for babies who subsequently presented with a urinary tract infection before their first birthday. CONCLUSION: Careful antenatal and postnatal ultrasound with strict protocols is effective in detecting congenital renal tract abnormalities. Infants discharged after normal postnatal ultrasound are highly unlikely to still have an undetected urinary tract abnormality. We suggest that all babies with antenatal hydronephrosis are started on prophylactic antibiotics at birth, pending further investigation. All babies without features of severe obstruction antenatally should have their postnatal ultrasound delayed for a month. We recommend selective use of micturating cystourethrogram (MCUG

Antenatal hydronephrosis: Negative predictive value of normal postnatal ultrasound - a 5-year study

International Nuclear Information System (INIS)

Moorthy, I.; Joshi, N.; Cook, J.V.; Warren, M.

2003-01-01

AIM: To determine whether normal postnatal ultrasound, as part of a strict screening protocol for the detection and follow-up of antenatal hydronephrosis, effectively excludes the majority of babies with congenital urinary tract abnormalities that would otherwise present with a urinary tract infection. MATERIALS AND METHODS: We retrospectively reviewed all babies who had postnatal follow-up of antenatally detected hydronephrosis over a 5-year period at our institution, a district general Trust with a specialist paediatric unit. We then studied all babies presenting with urinary tract infection before their first birthday to our institution over the same period. By cross-referencing these two study groups we were able to determine which babies developed a urinary tract infection having been previously discharged after normal postnatal ultrasound. RESULTS: Four hundred and twenty-five babies had postnatal follow-up of antenatal hydronephrosis. Of these, 284 were investigated with ultrasound alone. In the same 5-year period, 230 babies presented with urinary tract infection before their first birthday. Only three of these babies had been previously discharged after normal postnatal ultrasound. The negative predictive value of a normal postnatal ultrasound was therefore 98.9% (281/284) for babies who subsequently presented with a urinary tract infection before their first birthday. CONCLUSION: Careful antenatal and postnatal ultrasound with strict protocols is effective in detecting congenital renal tract abnormalities. Infants discharged after normal postnatal ultrasound are highly unlikely to still have an undetected urinary tract abnormality. We suggest that all babies with antenatal hydronephrosis are started on prophylactic antibiotics at birth, pending further investigation. All babies without features of severe obstruction antenatally should have their postnatal ultrasound delayed for a month. We recommend selective use of micturating cystourethrogram (MCUG

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

NARCIS (Netherlands)

Wellesley, Diana; Dolk, Helen; Boyd, Patricia A.; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the

Prenatal screening for congenital anomalies: exploring midwives' perceptions of counseling clients with religious backgrounds.

Science.gov (United States)

Gitsels-van der Wal, Janneke T; Manniën, Judith; Gitsels, Lisanne A; Reinders, Hans S; Verhoeven, Pieternel S; Ghaly, Mohammed M; Klomp, Trudy; Hutton, Eileen K

2014-07-19

In the Netherlands, prenatal screening follows an opting in system and comprises two non-invasive tests: the combined test to screen for trisomy 21 at 12 weeks of gestation and the fetal anomaly scan to detect structural anomalies at 20 weeks. Midwives counsel about prenatal screening tests for congenital anomalies and they are increasingly having to counsel women from religious backgrounds beyond their experience. This study assessed midwives' perceptions and practices regarding taking client's religious backgrounds into account during counseling. As Islam is the commonest non-western religion, we were particularly interested in midwives' knowledge of whether pregnancy termination is allowed in Islam. This exploratory study is part of the DELIVER study, which evaluated primary care midwifery in The Netherlands between September 2009 and January 2011. A questionnaire was sent to all 108 midwives of the twenty practices participating in the study. Of 98 respondents (response rate 92%), 68 (69%) said they took account of the client's religion. The two main reasons for not doing so were that religion was considered irrelevant in the decision-making process and that it should be up to clients to initiate such discussions. Midwives' own religious backgrounds were independent of whether they paid attention to the clients' religious backgrounds. Eighty midwives (82%) said they did not counsel Muslim women differently from other women. Although midwives with relatively many Muslim clients had more knowledge of Islamic attitudes to terminating pregnancy in general than midwives with relatively fewer Muslim clients, the specific knowledge of termination regarding trisomy 21 and other congenital anomalies was limited in both groups. While many midwives took client's religion into account, few knew much about Islamic beliefs on prenatal screening for congenital anomalies. Midwives identified a need for additional education. To meet the needs of the changing client population

Prenatal Diagnosis of Isolated Fetal Hydrocolpos Secondary to Congenital Imperforate Hymen

Directory of Open Access Journals (Sweden)

Jenn-Jhy Tseng

2008-06-01

Full Text Available A 32-year-old primigravida was referred to our hospital at 36 weeks of gestation with a fetal pelvic mass. Ultrasonography showed the fluid-filled area to be a 9 × 4 × 5-cm pear-shaped retrovesical mass with a funnel-shaped blind pouch at the distal end of the fetal vagina. Marked left hydronephrosis resulting from mass compression was also detected. Fetal magnetic resonance imaging further defined a pelvic lesion extending cephalically into the abdomen and caudally into the vagina. Membranal protrusion of the introitus was clearly identified. Therefore, the diagnosis of congenital imperforate hymen with hydrocolpos was established. At 38 weeks of gestation, a 2,966-g female infant was delivered vaginally with good Apgar scores. Physical examination of the neonate revealed a bulging membrane covering the vaginal opening. The presence of syndromic disorders (McKusick-Kaufman, Ellis-van Creveld or Bardet-Biedl syndromes, genitourinary and anorectal anomalies were excluded. The karyotype was 46, XX. A hymenotomy was performed on the second day of life. The infant recovered fully after hymenotomy.

Radiological findings of congenital urethral valves

International Nuclear Information System (INIS)

Yeon, Kyung Mo; Kook, Shin Ho

1990-01-01

Congenital urethral valve is the common cause of hydronephrosis in newborn infants and the most common cause of bladder outlet obstruction in male children. We reviewed and analysed radiological findings and associated anomalies of 16 cases of congenital urethral valve which were examined during the period from January 1985 to December 1989. The most frequent age was under one year old (56%). The main symptoms were urinary dribbing (37.5%), weak stream (25%) and urinary frequency and incontinence (25%). Anterior urethral valve (AUV) was 5 cases (31%) and posterior urethral valve (PUV) was 11 cases(69%), in which 10 cases were Type I and one case was Type III. Bladder wall thickening was seen in all cases and its severity was partly correlated with the degree of vesicoureteral reflux (VUR). VUR was observed in 12 cases (75%), and relatively severe in older age group. The degree of VUR was milder in AUV than PUV. Hydronephrosis was more severe in PUV than in anterior one, and its degree was correlated with the severity of VUR. Associated anomalies were ectopic urethral opening (2 cases), PDA (1 case), congenital megacolon (1 case) and patent urachus (1 case) in PUV. So early diagnosis and treatment of congenital urethral valve is essential to the prevention of renal damage

Prenatal diagnosis of congenital mesoblastic nephroma associated with renal hypertension in a premature child.

Science.gov (United States)

Siemer, Stefan; Lehmann, Jan; Reinhard, Harald; Graf, Norbert; Löffler, Gerhard; Hendrik, Hand; Remberger, Klaus; Stöckle, Michael

2004-01-01

In the present article, we report, for the first time, a prenatal diagnosis of a congenital mesoblastic nephroma in combination with a post-partum hyperreninemia with hypertension. A newborn was delivered at 35 weeks gestation who had an intrauterine diagnosis of a renal mass as early as 32 weeks gestational age by ultrasound examination. Tumor nephrectomy was performed on day 11 after delivery when an increase in hypertension was observed in the newborn.

Hydronephrosis in acute uncomplicated appendicitis.

Science.gov (United States)

Schok, T; Austen, S; Lewicz, R B C B; van der Zande, F H R; Peters, N A L R; Janzing, H M J

2015-01-01

Right-sided hydronephrosis as a sign of appendicitis occurs rarely in the literature. To our knowledge, this is the first published account of the occurrence of right-sided hydronephrosis as a result of uncomplicated appendicitis. We describe a 15 year old patient referred to the emergency department with suspected appendicitis. Additional ultrasound examination showed a right-sided hydronephrosis. This finding was discussed with the urologist who noted the hydronephrosis as a chance finding. Because of persistent clinical suspicion of appendicitis, a diagnostic laparoscopy was performed. A retrocaecal appendicitis with secondary hydronephrosis was found. Right-sided hydronephrosis may be a sign of acute uncomplicated (retrocaecal) appendicitis. It is important to keep sight of these findings, especially in view of the emphasis on imaging techniques in the current Dutch guideline on appendicitis. Copyright© Acta Chirurgica Belgica.

Congenital toxoplasma infection: monthly prenatal screening decreases transmission rate and improves clinical outcome at age 3 years.

Science.gov (United States)

Wallon, M; Peyron, F; Cornu, C; Vinault, S; Abrahamowicz, M; Kopp, C Bonithon; Binquet, C

2013-05-01

Toxoplasma infection during pregnancy exposes the fetus to risks of congenital infection and sequelae that depend heavily on gestational age (GA) at time of infection. Accurate risk estimates by GA are necessary to counsel parents and improve clinical decisions. We analyzed data from pregnant women diagnosed with acute Toxoplasma infection in Lyon (France) from 1987 to 2008 and assessed how the risks of congenital toxoplasmosis and of clinical signs at age 3 years vary depending on GA at the time of maternal infection. Among 2048 mother-infant pairs, 93.2% of mothers received prenatal treatment and 513 (24.7%) fetuses were infected. Because of a significant reduction in risk since 1992 when monthly screening was introduced (59.4% vs 46.6% at 26 GA weeks; P = .038), probabilities of infection were estimated on the basis of maternal infections diagnosed after mid-1992 (n = 1624). Probabilities of congenital infection were <10% for maternal infections before 12 weeks of gestation, rose to 20.0% at 19 weeks, and then continued increasing to 52.3% and almost 70% at 28 and 39 GA weeks, respectively. Because of a significant reduction in risk of clinical signs of congenital toxoplasmosis in infected children born from mothers diagnosed after 1995 when polymerase chain reaction testing on amniotic fluid was initiated (87/794 vs 46/1150; P = .012), probabilities of clinical signs at 3 years were estimated based on 1015 maternal infections diagnosed after 1995 including 207 infected children, with symptoms in 46 (22.2%). These analyses demonstrated that introduction of monthly prenatal screening and improvement in antenatal diagnosis were associated with a significant reduction in the rate of congenital infection and a better outcome at 3 years of age in infected children. Our updated estimates will improve individual management and counseling in areas where genotype II Toxoplasma is predominant.

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family

OpenAIRE

Chih-Ping Chen; Shuenn-Dyh Chang; Tzu-Hao Wang; Liang-Kai Wang; Jeng-Daw Tsai; Yu-Peng Liu; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Yu-Ting Chen; Wayseen Wang

2013-01-01

Objective: This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. Materials and Methods: A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woma...

Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

Science.gov (United States)

Debost-Legrand, Anne; Goumy, Carole; Laurichesse-Delmas, Hélène; Déchelotte, Pierre; Beaufrère, Anne-Marie; Lémery, Didier; Francannet, Christine; Gallot, Denis

2013-12-01

Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation. WHS results from a 4p16.3 deletion. Only a small number of reports have been made on the prenatal ultrasound findings observed in WHS. Here we report our experience on 10 cases of WHS ascertained prenatally between 1983 and 2009 through the CEMC-Auvergne registry of congenital malformations. The assumption that a "Greek warrior helmet" facies is pathognomonic of WHS could lead to misdiagnosis. Other clinical findings such as severe and early onset intrauterine growth retardation, facial dysmorphism (high forehead, high nasal bridge, low-set ears, micrognathia, hypertelorism), atrial or ventricular septal defect, and renal dysplasia should help obstetricians to suspect the diagnosis of WHS prenatally. Copyright © 2013 Wiley Periodicals, Inc.

Your Child Has Hydronephrosis

Science.gov (United States)

... A to Z Health Guide Your Child Has Hydronephrosis Print Email In recent years, better ultrasound machines ... or both kidneys, abnormal position of a kidney, hydronephrosis (swelling of a kidney), fluid-filled cysts and ...

Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study.

Science.gov (United States)

Postoev, Vitaly A; Grjibovski, Andrej M; Kovalenko, Anton A; Anda, Erik Eik; Nieboer, Evert; Odland, Jon Øyvind

2016-03-01

Congenital anomalies of the kidney and the urinary tract (CAKUTs) are relatively common birth defects. The combined prevalence in Europe was 3.3 per 1000 in 2012. The risk factors for these anomalies are not clearly identified. The aims of our study were to calculate the birth prevalences of urinary malformations in Murmansk County during 2006 to 2011 and to investigate related prenatal risk factors. The Murmansk County Birth Registry was the primary source of information and our study included 50,936 singletons in the examination of structure, prevalence and proportional distribution of CAKUTs. The multivariate analyses of risk factors involved 39,322 newborns. The prevalence of CAKUTs was 4.0 per 1000 newborns (95% confidence interval [CI], 3.4-4.5) and did not change during the study period. The most prevalent malformation was congenital hydronephrosis (14.2% of all cases). Diabetes mellitus or gestational diabetes (odds ratio [OR] = 4.77; 95% CI, 1.16-19.65), acute infections while pregnant (OR = 1.83; 95% CI, 1.14-2.94), the use of medication during pregnancy (OR = 2.03; 95% CI, 1.44-2.82), and conception during the summer (OR = 1.75; 95% CI 1.15-2.66) were significantly associated with higher risk of CAKUTs. The overall fourfold enhancement of the occurrence of urinary malformations in Murmansk County for the 2006 to 2011 period showed little annual dependence. During pregnancy, use of medications, infections, pre-existing diabetes mellitus, or gestational diabetes were associated with increased risk of these anomalies, as was conception during summer. Our findings have direct applications in improving prenatal care in Murmansk County and establishing targets for prenatal screening and women's consultations. © 2016 Wiley Periodicals, Inc.

Congenital cerebral palsy and prenatal exposure to self-reported maternal infections, fever, or smoking

DEFF Research Database (Denmark)

Streja, Elani; Miller, Jessica; Bech, Bodil H

2013-01-01

OBJECTIVE: The objective of the study was to investigate the association between maternal self-reported infections, fever, and smoking in the prenatal period and the subsequent risk for congenital cerebral palsy (CP). STUDY DESIGN: We included the 81,066 mothers of singletons born between 1996...... and midgestation. We identified 139 CP cases including 121 cases of spastic CP (sCP) as confirmed by the Danish National Cerebral Palsy Register. Cox proportional hazards regression models were used to estimate adjusted hazard ratios (aHRs) and 95% confidence intervals (CIs). RESULTS: Self-reported vaginal...

Prenatal Exposure to Perfluoroalkyl Substances and the Risk of Congenital Cerebral Palsy in Children

DEFF Research Database (Denmark)

Liew, Zeyan; Ritz, Beate; Bonefeld-Jørgensen, Eva Cecilie

2014-01-01

Perfluoroalkyl substances (PFASs) are persistent pollutants and endocrine disruptors that may affect fetal brain development. We investigated whether prenatal exposure to PFASs increases the risk of congenital cerebral palsy (CP). The source population for this study includes 83,389 liveborn...... singletons and mothers enrolled in the Danish National Birth Cohort during 1996-2002. We identified 156 CP cases by linking the cohort to the Danish National Cerebral Palsy Register, and we randomly selected 550 controls using a case-cohort design. We measured 16 PFASs in maternal plasma collected in early...

Frequency of different congenital anomalies in prenatally valproic acid treated chick embryos

International Nuclear Information System (INIS)

Akhtar, L.; Khan, M.Y.

2016-01-01

To determine the frequency of different congenital anomalies in surviving chick embryo on hatching after the prenatal administration of valproic acid by comparing with age-matched controls. Study Design: Experimental study. Place and Duration of Study: Anatomy Department, College of Physicians and Surgeons Pakistan (CPSP) Regional Centre, Islamabad, from February 2010 to February 2011. Material and Methods: Thirty fertilized chicken eggs were injected with valproic acid, incubated and then evaluated for different gross congenital anomalies, on hatching or day 22 of incubation whichever was earlier. Chicks of this group were labeled as experimental group-A. Similarly, another group of thirty fertilized chicken eggs labeled as control group-B, underwent sham treatment using normal saline. The weight and length of alive chicks, the total number of chicks with gross anomalies and the number of different types of gross anomalies in both groups were noted and statistically compared. Results: In control group-B, 28 chicks hatch out on 21 day of hatching with no visible gross deformities. Whereas in experimental group-A, 23 chicks were alive, out of which, 9 chicks were with delayed hatching on 22 days of hatching. The chicks with gross deformities were 8 (p=0.0008) which included: limb abnormalities (i.e. inverted feet) in 6 chicks (p=0.006), eye abnormality (i.e. closed palpebral fissure of both eyes) in 2 chick (p=0.2), 1 chick showed multiple deformities including gastroschisis, closed palpebral fissures and inverted foot (p=0.45). There were behavioral changes in 10 chicks (p=0.0001). There was statistically significant difference in their weights (p=0.03). Conclusion: Prenatal exposure of chick embryos to valproic acid increased the incidence of different gross deformities. (author)

Radiographic evaluation of hydronephrosis in children

International Nuclear Information System (INIS)

Chung, Hyul Lyang; Kang, Jung Ja; Lim, Sang Yong; Cho, On Koo

1983-01-01

Clinical and radiological observation was made on the 42 cases of childhood hydronephrosis patients admitted to Hanyang University Hospital from June, 1972 to August, 1982. Performed diagnostic methods were excretory urography, retrograde pyelography, voiding cystourethrography and other advanced form of radiological methods such as angiography or ultrasonography. The results were as follows: 1. The male patients were more frequent than female patient and its ratio was 29 : 13. 2. 18 out of 42 patients were below 5 years of age and 9 of them were less than 1 year old. 3. Abdominal mass was the common presenting feature especially on obstructive hydronephrosis. Genitourinary symptoms or flank pain was the most frequent complaint in order children. Nongenitourinary symptoms were also noted especially in nonobstructive hydronephrosis of young children. 4. Obstructive hydronephrosis were 26 cases and nonobstructive hydronephrosis were 17 cases. Pelviureteric junction was most frequent obstruction site and injuries stricture was more frequent than extrinsic lesion. Vesicoureteric reflux and recurrent urinary tract infection was the frequent causes of nonobstructive hydronephrosis. 5. Both kidneys are equally affected in all of cases. The left side was more frequently affected in obstructive hydronephrosis cases. 6. Voiding cystourethrography was performed in 14 cases and showed V-U reflux in 8 cases especially of mild nonobstructive hydronephrosis. 7. Ultrasonography was performed in 10 cases and it was the good method for diagnosis especially when the abdominal mass was the presenting feature in children. 8. Most of operated cases were severe, grade III or IV, obstructive hydronephrosis cases. 9. Associated abnormalities affecting the genitourinary tract was found in 17 cases. Nongenitourinary tract abnormalities were present in 20 cases especially associated with spinal anomaly

Congenital hydronephrosis: prenatal diagnosis and epidemiology in Europe

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Wellesley, Diana

2009-01-01

per 10,000 births. The large majority of cases were livebirths (3506, 96% of total) and only 17 cases were fetal deaths and 120 were terminations of pregnancy. Almost all livebirths were alive 1 week after birth. Boys accounted for 72% of all cases. A high proportion of the cases (86%) had an isolated......-diagnosis with implications for renal function later in life in regions with low prevalence needs further investigation....

Studies on the evaluation of renal function in hydronephrosis with 99mTc-DMSA renal uptake

International Nuclear Information System (INIS)

Takeda, Masayuki; Katayama, Yasushi; Takahashi, Hitoshi; Sato, Shotaro

1988-01-01

99m Tc-dimercaptosuccinic acid renal uptake (DMSA uptake) was measured in patients with hydronephrosis and we obtained the following conclusions. 1. Grades of hydronephrosis on IVP according to Oka's classification were compared with DMSA uptake. In 73 adult patients, the grade of hydronephrosis paralleled DMSA uptake well, but in 20 children it did not. 2. The changes of DMSA uptake pre- and post-nephrostomy were measured in 21 kidneys in 19 cases with congenital hydronephrosis. DMSA uptake of 7 infantile kidneys significantly increased post-nephrostomy, but in the cases over 1 year old significantly decreased after nephrostomy. DMSA uptake of the contralateral kidney significantly increased after nephrostomy in infants, but it did not change in the group over 1 year old. 3. In 15 kidneys of 13 cases with nephrostomy, DMSA uptake during closure and after opening of the nephrostomy catheter and DMSA uptake due to the radioisotope (RI) accumulated in the renal collecting system were measured. In the group over 1 year old, DMSA uptake decreased after opening nephrostomy nearly all and the extent of the decrease almost agreed with DMSA uptake due to RI accumulated in the renal collecting system. But in infants, DMSA uptake increased after opening nephrostomy in most cases and the extent of the change in DMSA uptake did not agree with DMSA uptake due to RI accumulated in the renal collecting system. (author)

Parental psychological distress and quality of life after a prenatal or postnatal diagnosis of congenital anomaly: a controlled comparison study with parents of healthy infants.

Science.gov (United States)

Fonseca, Ana; Nazaré, Bárbara; Canavarro, Maria Cristina

2012-04-01

Parental early adjustment to a prenatal or postnatal diagnosis of congenital anomaly has been studied mainly within a pathological and deterministic perspective, giving us an inadequate view of the impact of the diagnosis. Adopting a comprehensive approach on parental adjustment, we aimed to characterise the impact of the diagnosis on psychological distress and quality of life, in the early postdiagnosis stage. The effects of gender and the timing of the diagnosis were also examined. In this cross-sectional study, 42 couples with healthy infants and 42 couples whose infants were prenatal or postnatally diagnosed with a congenital anomaly responded to the Brief Symptom Inventory-18 and to the World Health Organization Quality of Life-Brief instrument. In the early postdiagnosis stage, parents whose infants were diagnosed with a congenital anomaly presented higher levels of psychological distress than did the parents of healthy infants (F(2,79) = 6.23, p = .003), although they displayed similar levels of quality of life (F(4,78) = 0.62, p = .647). Mothers reported more adjustment difficulties than fathers in both groups. Receiving the diagnosis in the prenatal period was associated with higher maternal psychological quality of life (Z = -2.00, p = .045). The occurrence of a diagnosis of congenital anomaly during the transition to parenthood adds to an accumulation of stress-inducing events and manifests itself in psychopathological symptoms. Maintaining a positive evaluation of well-being may be understood as a parental resource to deal with the diagnosis. The importance of adopting a comprehensive perspective on parental adjustment is highlighted. Copyright © 2012 Elsevier Inc. All rights reserved.

Clinical impact of renography in antenatally discovered pelviureteric stenosis: a short review of the literature; Zur klinischen Wertigkeit der Nierenfunktionsszintigraphie bei praenatal diagnostizierten renalen Abflussstoerungen

Energy Technology Data Exchange (ETDEWEB)

Froekiaer, J.; Eskild-Jensen, A. [Dept. of Clinical Physiology and Nuclear Medicine, Aarhus Univ. Hospital, Skejby, Aarhus (Denmark)

2003-09-01

Congenital unilateral hydronephrosis is a relatively frequent and often asymptomatic condition diagnosed in utero. The natural history and significance of congenital hydronephrosis on the development and long-term consequences on renal function is not sufficiently known. The present diagnostic methods do not provide prediction of the functional consequences of a potential presence of an obstruction. However, renography is an important method affecting the clinical treatment of children with prenatal unilateral hydronephrosis, and is the only method that satisfactory can provide serial accurate measurements of differential renal function. The present review briefly summarizes the clinical impact of renography in neonatally discovered hydronephrosis in relation to the pathophysiological characteristics of congenital unilateral hydronephrosis. (orig.) [German] Bei der einseitigen angeborenen Hydronephrose handelt es sich um ein relativ haeufiges Krankheitsbild, das in der Regel durch Sonographie bereits im Uterus diagnostiziert wird. Die Ursache dieser Erkrankung und ihre Bedeutung fuer die Entwicklung der Nierenfunktion im weiteren Verlauf sind nicht ausreichend bekannt. Die heute zur Verfuegung stehenden Untersuchungsmethoden koennen keine Aussage ueber die funktionellen Konsequenzen einer moeglichen Obstruktion erbringen. Die Nierenfunktionsszintigraphie ist jedoch eine sehr wichtige Methode fuer die klinische Behandlung der Kinder mit einer einseitigen praenatal diagnostizierten Hydronephrose und sie ist die einzige Methode, die wiederholte Messungen der seitengetrennten Nierenfunktion mit einer hohen Genauigkeit ermoeglicht. Die vorliegende Arbeit fasst kurz die klinische Bedeutung der Nierensequenzszintigraphie bei praenatalen Hydronephrosen zusammen und stellt einen Zusammenhang zu den pathophysiologischen Charakteristiken dieser Erkrankung her. (orig.)

Critical role of cyclooxygenase-2 activation in pathogenesis of hydronephrosis caused by lactational exposure of mice to dioxin

International Nuclear Information System (INIS)

Nishimura, Noriko; Matsumura, Fumio; Vogel, Christopher F.A.; Nishimura, Hisao; Yonemoto, Junzo; Yoshioka, Wataru; Tohyama, Chiharu

2008-01-01

Congenital hydronephrosis is a serious disease occurring among infants and children. Besides the intrinsic genetic factors, in utero exposure to a xenobiotic, 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), has been suggested to induce hydronephrosis in rodents owing to anatomical obstruction in the ureter. Here, we report that hydronephrosis induced in mouse pups exposed lactationally to TCDD is not associated with anatomical obstruction, but with abnormal alterations in the subepithelial mesenchyma of the ureter. In the kidneys of these pups, the expressions of a battery of inflammatory cytokines including monocyte chemoattractant protein (MCP)-1, tumor necrosis factor α (TNFα) and interleukin (IL) -1β were up-regulated as early as postnatal day (PND) 7. The amounts of cyclooxygenase (COX) -2 mRNA and protein as well as prostaglandin E2 (PGE 2 ) were conspicuously up-regulated in an arylhydrocarbon-receptor-dependent manner in the TCDD-induced hydronephrotic kidney, with a subsequent down-regulation of the gene expressions of Na + and K + transporters, NKCC2 and ROMK. Daily administration of a COX-2 selective inhibitor to newborns until PND 7 completely abrogated the TCDD-induced PGE 2 synthesis and gene expressions of inflammatory cytokines and electrolyte transporters, and eventually prevented the onset of hydronephrosis. These findings suggest an essential role of COX-2 in mediating the TCDD action of inducing hydronephrosis through the functional impairment rather than the anatomical blockade of the ureter

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

DEFF Research Database (Denmark)

Wellesley, Diana; Dolk, Helen; Boyd, Patricia A

2012-01-01

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the...... currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.European Journal of Human Genetics advance online publication, 11 January 2012; doi:10.1038/ejhg.2011.246....

Usefulness of fetal MR imaging for congenital urological anomalies

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Akasaka, Yoshinobu; Sugimura, Kazuro [Kobe Univ. (Japan). Graduate School of Medicine; Kanegawa, Kimio [Kobe Children' s Hospital (Japan)

2002-04-01

Despite the fact that congenital urological anomalies are not rare, the role of fetal MRI in these disorders has not been well defined. We evaluated the usefulness of MRI in the prenatal diagnosis of patients with such anomalies. A total of 23 cases were included in this study. The 23 cases were divided as follows: 7 cases of bilateral renal agenesis or severe hypogenesis (Potter sequence: PS), 8 cases of multicystic dysplastic kidney (2 cases were bilateral: MCDK), 5 cases of hydronephrosis (HN), one case of hydroureteronephrosis (HUN) and 2 cases of HN or HUN with duplication (DUP). In this study the scan time for fetal MRI was approximately 30 seconds for one sequence. Overall, the diagnostic accuracy was 65.2%; 85.2% for PS, 87.5% for MCDK, 60.0% for HN, 50.0% for HUN and 0% for DUP. Even though imaging quality was relatively poor for motion artifact in this series, we were able to diagnose PS and MCDK because of associated lung hypoplasia and its characteristic shape. The diagnosis of HN, HUN and DUP was difficult. HN was sometimes misdiagnosed as a retroperitoneal cystic mass because the dilation of calices was obscured in severe cases. In HUN and DUP cases dilation of the ureter was unclear. However, using HASTE or true FISP sequence may solve this problem. Based on this data, we conclude that fetal MRI is useful for prenatal diagnosis of urological anomalies. (author)

Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

Science.gov (United States)

Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar

2012-01-01

We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. Copyright © 2011 S. Karger AG, Basel.

Dynamic renal scintigraphy at hydronephrosis

International Nuclear Information System (INIS)

Petrov, T.; Chukov, I.; Svrakova, E.

1998-01-01

The aim of the study was to estimate the clinical relevance and accuracy of dynamic renal scintigraphy (DRS) in case of obstructed kidneys as hydronephrosis is among the complications at different renal diseases, like nephrolithiasis and urolithiasis. Twenty-one patients mainly with unilateral hydronephrosis were studied. DRS with 99m Tc-MAG3 or 99m Tc-EC was done and quantitative parameters of the morphological and functional status of every kidney were assessed. At 24 % of the patients accumulation curves typical for obstructed by hydronephrosis kidneys were obtained. At 38 % the type of renograms of the affected kidneys was intermediate one, closer to that at the cases with nephrosclerosis, with lower uptake and severe parenchymal changes. The rest 38 % of the cases showed normal renograms or slightly delayed downslope. DRS is a very precise and sensitive method for evaluation of the degree of kidney damage in cases with hydronephrosis

Congenital pyeloureteral junction stenosis -postoperative follow-up with MDCT urography

International Nuclear Information System (INIS)

Al-Amin, M.

2012-01-01

Full text: 30-year-old male patient with asymptomatic congenital hydronephrosis of the left kidney detected on routine ultrasound investigation in relation to haematemesis 7 years ago. It is established a pyeloureteral junction stenosis and has made a resection of the stenotic part of the segment with a further plastic by Anderson - Haynes - Kuester. The histological analysis of resected area found expressed muscle layer and chronic inflammatory infiltrates as same as the in miofibroepithel disembriogenesis. After that, there was a recidive of the hydronephrosis and a further replastic and endopyeloplastic surgery performed in Germany in 2008. Two years after that with multislice computed tomography and computed tomography urography showing recurrence of the disease. Hydronephrosis is nonobstructive, asymptomatic, with no gallstones visualized along the left ureter. There is a delayed drainage function of the left kidney, which does not separate contrast medium in the 60th minute of computed tomography urography. The diagnosis of the condition is a nonobstructive hydronephrosis recidive of the left kidney. There are no aberrant renal arteries or renal arteries stenosis on postprocessing imaging

Congenital ventricular septal defects and prenatal exposure to cyclooxygenase inhibitors

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F. Burdan

2006-07-01

Full Text Available Ventricular septal defects (VSDs are common congenital abnormalities which have been reported to be associated with maternal fever and various environmental factors. The aim of the present study was to evaluate the effect of prenatal exposure to cyclooxygenase (COX inhibitors on heart defects. A retrospective statistical analysis was performed using data collected in our laboratory during various teratological studies carried out on albino CRL:(WIWUBR Wistar strain rats from 1997 to 2004. The observations were compared with concurrent and historic control data, as well as findings from other developmental toxicological studies with selective and nonselective COX-2 inhibitors. Despite the lack of significant differences in the frequency of VSDs between drug-exposed and control groups, statistical analysis by the two-sided Mantel-Haenszel test and historical control data showed a higher incidence of heart defects in offspring exposed to nonselective COX inhibitors (30.06/10,000. Unlike other specific inhibitors, aspirin (46.26/10,000 and ibuprofen (106.95/10,000 significantly increased the incidence of the VSD when compared with various control groups (5.38-19.72/10,000. No significant differences in length or weight were detected between fetuses exposed to COX inhibitors and born with VSD and non-malformed offsprings. However, a statistically significant increase of fetal body length and decrease of body mass index were found in fetuses exposed to COX inhibitors when compared with untreated control. We conclude that prenatal exposure to COX inhibitors, especially aspirin and ibuprofen, increased the incidence of VSDs in rat offspring but was not related to fetal growth retardation.

An ultrasonographic study of experimental hydronephrosis in rabbit

International Nuclear Information System (INIS)

Choi, Byung Ihn; Yeon, Kyung Mo; Han, Man Chung; Kim, Chu Wan

1984-01-01

Ultrasonographic of rabbit kidney was enformed after induction of simple and infected hydronephrosis to evaluate the sequential sonographic changes in 27 rabbits. Simple hydronephrosis was induced by ligation of the distal ureter and infected hydronephrosis by ligation of the distal ureter and ureteral inoculation of Escherichia coli. Ultrasonography was performed daily during the first week and weekly during the following 5 weeks after induction of simple and infected hydronephrosis. 1. In simple hydronephrosis, the earliest abnormal ultrasonographic finding was splitting of central renal echo complex, which appeared within 1 day after ureteral ligation in all cases. 2. In simple hydronephrosis, complete loss of central renal echo complex and cystic dilatation of pelvis were seen with in 5 days after ureteral ligation in all cases. 3. In infected hydronephrosis, the earliest abnormal ultrasonographic finding was appearance of internal echoes in dependent portion of the pelvis, which appeared within 4 days after inoculation in all cases. 4. In infected hydronephrosis, degree of internal echoes within the pelvis increased progressively with lapse of time and the entire pelvis was filled with internal echoes within 2 weeks after inoculation in all cases. 5. In infected hydronephrosis, echogenecity of internal echoes within the pelvis was similar to that of renal parenchyma in the first week after inoculation, however was weaker than that of renal parenchyma 2 weeks after inoculation in all cases

Horseshoe lung with multiple congenital anomalies

International Nuclear Information System (INIS)

Hawass, N.D.; Badawi, M.G.; Fatani, J.A.; Meshari, A.A.; Edrees, Y.B.

1987-01-01

A detailed radiologic and anatomic study of a 20-week old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, imperforate anus, and a single tracheo-esophageal tube (persistent esophago-trachea). The association of horseshoe lung with persistent esophago-trachea, microurethra, megacystis, bilateral hydroureters, hydronephrosis and phocomelia is, we believe, the first ever to have been recorded in the literature. Twenty-one cases of horseshoe lung have been reported in the literature. These cases were reviewed and a comparison with the present case is presented. The embryologic basis for these anomalies is also briefly discussed. (orig.)

Congenital diaphramatic hernia

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Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

2012-01-15

Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

Congenital diaphramatic hernia

International Nuclear Information System (INIS)

Kline-Fath, Beth M.

2012-01-01

Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

Diagnostic possibilities of ultrasound examination and diuretic nephrography (Furosemide test F +20) to evaluate hydronephrosis in children

International Nuclear Information System (INIS)

Boueva, A.; Palashev, J.; Mlachkov, N.

2005-01-01

The aim of this study is to compare diagnostic value of kidney ultrasound examination (US) and diuretic nephrography (furosemide test F+20) for assessment of the kind and degree of obstructive renal changes in childhood. 12 children (8 girls and 4 boys; mean age 4.4 years) with observation of congenital hydronephrosis were examined. Diuretic 99mTc-EC nephrography (F+20) with SPECT gamma camera STARCAM 40001 (General Electric) was done. The results of 99mTc-EC Diuretic nephrography (F+20) were as follows: positive furosemide test (F+20) in ten children (seven girls and tree boys) 83.3% and no found dynamic changes in drainage after (F+20) in 2 children (one girl and one boy) 16.7%. Correlation between ultrasound examination and Diuretic nephrography 99mTcEC (F+20) for the diagnosis hydronephrosis was 100 %. The ultrasound examination and 99mTc-EC Diuretic nephrography (F+20) are highly informative and suitable methods for assessment kind and degree of hydronephrosis in children. The combination of two methods allows a possibility of differentiation of the type of obstruction - functional or organic etiology

Prognostic value of three-dimensional ultrasound for fetal hydronephrosis

Science.gov (United States)

WANG, JUNMEI; YING, WEIWEN; TANG, DAXING; YANG, LIMING; LIU, DONGSHENG; LIU, YUANHUI; PAN, JIAOE; XIE, XING

2015-01-01

The present study evaluated the prognostic value of three-dimensional ultrasound for fetal hydronephrosis. Pregnant females with fetal hydronephrosis were enrolled and a novel three-dimensional ultrasound indicator, renal parenchymal volume/kidney volume, was introduced to predict the postnatal prognosis of fetal hydronephrosis in comparison with commonly used ultrasound indicators. All ultrasound indicators of fetal hydronephrosis could predict whether postnatal surgery was required for fetal hydronephrosis; however, the predictive performance of renal parenchymal volume/kidney volume measurements as an individual indicator was the highest. In conclusion, ultrasound is important in predicting whether postnatal surgery is required for fetal hydronephrosis, and the three-dimensional ultrasound indicator renal parenchymal volume/kidney volume has a high predictive performance. Furthermore, the majority of cases of fetal hydronephrosis spontaneously regress subsequent to birth, and the regression time is closely associated with ultrasound indicators. PMID:25667626

Can ureteral stones cause pain without causing hydronephrosis?

Science.gov (United States)

Song, Yan; Hernandez, Natalia; Gee, Michael S; Noble, Vicki E; Eisner, Brian H

2016-09-01

While computerized tomography (CT) is the gold standard for diagnosis of ureterolithiasis, ultrasound is a less costly and radiation-free alternative which is commonly used to evaluate patients with ureteral colic. The purpose of this study was to evaluate the frequency with which patients with ureteral stones and renal colic demonstrate hydronephrosis in order to better understand the evaluation of these patients. Two hundred and forty-eight consecutive patients presenting with ureteral colic and diagnosed with a single unilateral ureteral stone on CT scan in an urban tertiary care emergency department were retrospectively reviewed. Radiology reports were reviewed for stone size, diagnosis, and degree of hydronephrosis. Of the 248 patients evaluated for suspected ureteral stone, 221 (89.1 %) demonstrated any hydronephrosis, while 27 (10.9 %) did not. Hydronephrosis grade, available in 194 patients, was as follows: mild-70.6 %, moderate-27.8 %, and severe-1.5 %. Mean patient age was 47.0 years (SD 15.5), gender distribution was 35.9 % female and 64.1 % male, and mean stone axial diameter was 4.1 mm (SD 2.4). Stone location was as follows: ureteropelvic junction-4.1 %, proximal ureter-21 %, distal ureter-24.9 %, and ureterovesical junction-47.1 %. Axial stone diameter and coronal length (craniocaudal) were both significant predictors of degree of hydronephrosis (ANOVA, p hydronephrosis. In patients with ureteral stones and colic, nearly 11 % do not demonstrate any hydronephrosis and a majority (nearly 71 %) will demonstrate only mild hydronephrosis. Stone diameter appears to be related to degree of hydronephrosis, whereas age, gender, and stone location are not. The lower incidence of hydronephrosis for small stones causing renal colic may explain the lower diagnostic accuracy of ultrasound when compared to CT for detecting ureteral stones.

Trends in congenital anomalies in Europe from 1980 to 2012

DEFF Research Database (Denmark)

Morris, Joan K.; Springett, Anna L.; Greenlees, Ruth

2018-01-01

and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid...... of pregnancy for fetal anomaly were analysed with multilevel random- effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects...

Ultrasonography of hydronephrosis in the newborn: A practical review

International Nuclear Information System (INIS)

Choi, Young Hun; Cheon, Jung Eun; Kim, Woo Sun; Kim, In One

2016-01-01

Widespread use of fetal ultrasonography is accompanied by more frequent detection of antenatal hydronephrosis. Therefore, sonographic evaluation of neonates with a history of antenatal hydronephrosis is becoming more widespread. As an initial postnatal non-invasive imaging modality, ultrasonography is used to screen for persistence of hydronephrosis, determine the level and severity of obstruction, and contribute to appropriate diagnosis and treatment. This review aims to provide a practical overview of the sonographic evaluation of neonatal hydronephrosis and to describe the sonographic findings of conditions associated with hydronephrosis in the newborn

Ultrasonography of hydronephrosis in the newborn: a practical review

Science.gov (United States)

2016-01-01

Widespread use of fetal ultrasonography is accompanied by more frequent detection of antenatal hydronephrosis. Therefore, sonographic evaluation of neonates with a history of antenatal hydronephrosis is becoming more widespread. As an initial postnatal non-invasive imaging modality, ultrasonography is used to screen for persistence of hydronephrosis, determine the level and severity of obstruction, and contribute to appropriate diagnosis and treatment. This review aims to provide a practical overview of the sonographic evaluation of neonatal hydronephrosis and to describe the sonographic findings of conditions associated with hydronephrosis in the newborn. PMID:27156562

Ultrasonography of hydronephrosis in the newborn: A practical review

Energy Technology Data Exchange (ETDEWEB)

Choi, Young Hun; Cheon, Jung Eun; Kim, Woo Sun; Kim, In One [Dept. of Radiology, Seoul National University College of Medicine, Seoul National University Children' s Hospital, Seoul (Korea, Republic of)

2016-07-15

Widespread use of fetal ultrasonography is accompanied by more frequent detection of antenatal hydronephrosis. Therefore, sonographic evaluation of neonates with a history of antenatal hydronephrosis is becoming more widespread. As an initial postnatal non-invasive imaging modality, ultrasonography is used to screen for persistence of hydronephrosis, determine the level and severity of obstruction, and contribute to appropriate diagnosis and treatment. This review aims to provide a practical overview of the sonographic evaluation of neonatal hydronephrosis and to describe the sonographic findings of conditions associated with hydronephrosis in the newborn.

Prevalence of Hydronephrosis in Women With Advanced Pelvic Organ Prolapse.

Science.gov (United States)

Dancz, Christina E; Walker, Daphne; Thomas, Diane; Özel, Begüm

2015-08-01

To describe the prevalence of hydronephrosis in advanced pelvic organ prolapse (POP) and to describe clinical and urodynamic parameters associated with hydronephrosis. Prospective, observational cohort study examining the prevalence of hydronephrosis in advanced POP. Women with a POP-Q examination of at least +1 for points C, Aa, or Ba were enrolled and screened for hydronephrosis. Basic demographics, clinical, and urodynamic findings among women with and without hydronephrosis were compared. The University of Southern California IRB approved this protocol. A total of 180 participants were enrolled. Fifty-five women had some hydronephrosis, for a prevalence of 30.6% (24.3%-37.6%). Mean age was 57.9 (±9.0) years and mean body mass index was 29.2 kg/m(2) (± 4.6). Of the participants, 80.6% were postmenopausal. The presence of diabetes mellitus was significantly associated with hydronephrosis (8% without vs 21.8% with, P = .009), as was the degree of anterior and apical (median Aa, Ba, C, and D higher with hydronephrosis than without, P hydronephrosis had higher mean post void residuals (64.8 vs 38.5 mL, P = .007), lower mean first leak (199.6 vs 280.8 mL, P = .006), and higher mean maximum cystometric capacity (525.2 vs 476.7 mL, P = .02) compared with participants without hydronephrosis. The prevalence of hydronephrosis in women with advanced POP is 30.6%. Clinical factors associated with hydronephrosis include degree of anterior or apical POP and diabetes mellitus. Urodynamic factors associated with hydronephrosis include elevated postvoid residuals, larger cystometric capacity, and lower volume at first leak. Copyright © 2015 Elsevier Inc. All rights reserved.

Gendered Peer Involvement in Girls with Congenital Adrenal Hyperplasia: Effects of Prenatal Androgens, Gendered Activities, and Gender Cognitions.

Science.gov (United States)

Berenbaum, Sheri A; Beltz, Adriene M; Bryk, Kristina; McHale, Susan

2018-05-01

A key question in understanding gender development concerns the origins of sex segregation. Children's tendencies to interact with same-sex others have been hypothesized to result from gender identity and cognitions, behavioral compatibility, and personal characteristics. We examined whether prenatal androgen exposure was related to time spent with boys and girls, and how that gendered peer involvement was related to sex-typed activities and gender identity and cognitions. We studied 54 girls with congenital adrenal hyperplasia (CAH) aged 10-13 years varying in degree of prenatal androgen exposure: 40 girls with classical CAH (C-CAH) exposed to high prenatal androgens and 14 girls with non-classical CAH (NC-CAH) exposed to low, female-typical, prenatal androgens. Home interviews and questionnaires provided assessments of gendered activity interests and participation, gender identity, and gender cognitions. Daily phone calls over 7 days assessed time spent in gendered activities and with peers. Girls with both C-CAH and NC-CAH interacted more with girls than with boys, with no significant group differences. The groups did not differ significantly in gender identity or gender cognitions, but girls with C-CAH spent more time in male-typed activities and less time in female-typed activities than did girls with NC-CAH. Time spent with girls reflected direct effects of gender identity/cognitions and gender-typed activities, and an indirect effect of prenatal androgens (CAH type) through gender-typed activities. Our results extend findings that prenatal androgens differentially affect gendered characteristics and that gendered peer interactions reflect combined effects of behavioral compatibility and feelings and cognitions about gender. The study also shows the value of natural experiments for testing hypotheses about gender development.

Prenatal MRI Findings of Fetuses with Congenital High Airway Obstruction Sequence

Energy Technology Data Exchange (ETDEWEB)

Guimaraes, Carolina V. A.; Linam, Leann E.; Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Cincinnati (United States)] (and others)

2009-04-15

To define the MRI findings of congenital high airway obstruction sequence (CHAOS) in a series of fetuses. Prenatal fetal MR images were reviewed in seven fetuses with CHAOS at 21 to 27 weeks of gestation. The MRI findings were reviewed. The MRI parameters evaluated included the appearance of the lungs and diaphragm, presence or absence of hydrops, amount of amniotic fluid, airway appearance, predicted level of airway obstruction, and any additional findings or suspected genetic syndromes. All the fetuses viewed (7 of 7) demonstrated the following MRI findings: dilated airway below the level of obstruction, increased lung signal, markedly increased lung volumes with flattened or inverted hemidiaphragms, massive ascites, centrally positioned and compressed heart, as well as placentomegaly. Other frequent findings were anasarca (6 of 7) and polyhydramnios (3 of 7). MRI identified the level of obstruction as laryngeal in five cases and tracheal in two cases. In four of the patients, surgery or autopsy confirmed the MRI predicted level of obstruction. Associated abnormalities were found in 4 of 7 (genetic syndromes in 2). Postnatal radiography (n = 3) showed markedly hyperinflated lungs with inverted or flattened hemidiaphragms, strandy perihilar opacities, pneumothoraces and tracheotomy. Two fetuses were terminated and one fetus demised in utero. Four fetuses were delivered via ex utero intrapartum treatment procedure. MRI shows a consistent pattern of abnormalities in fetuses with CHAOS, accurately identifies the level of airway obstruction, and helps differentiate from other lung abnormalities such as bilateral congenital pulmonary airway malformation by demonstrating an abnormally dilated airway distal to the obstruction.

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

Science.gov (United States)

Tong, Yu K.; Yuen, Tony; Jiang, Peiyong; Pina, Christian; Chan, K. C. Allen; Khattab, Ahmed; Liao, Gary J. W.; Yau, Mabel; Kim, Se-Min; Chiu, Rossa W. K.; Sun, Li; Zaidi, Mone

2014-01-01

Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes. Results: In all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation. Conclusions: MPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders. PMID:24606108

FORECASTING OF SURVIVAL OF CHILDREN WITH THE PRENATALLY DIAGNOSED PATHOLOGY OF THE CARDIOVASCULAR SYSTEM

Directory of Open Access Journals (Sweden)

Анна Валериевна Дубовая

2018-05-01

Full Text Available The development of effective methods for the analysis and prognosis of the survival of newborns with prenatally diagnosed congenital malformations of the cardiovascular system are the urgent task of modern medicine. Objective – a neural network model for predicting the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system was developed. Materials and methods. To create the artificial neural networks, the method of constructing multifactor mathematical prediction models in the software package Statistica 6.0 was used. The significance level of the factors influencing the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system was determined using Wald statistics. When checking statistical hypotheses, the critical level of significance was assumed to be 0,05. Results. A neural network model for the determination of the probability of survival of a child with prenatally diagnosed congenital malformations of the cardiovascular system, which has a high prognostic ability of 0,88, sensitivity of the model was 77,6 %, specificity 86,4 %. The value of prognostic survival probability is in the range from 0 to 100 %. With an indicator value of more than 80 %, the probability of survival of a child with prenatally diagnosed congenital malformations of the cardiovascular system is estimated as high, ranging from 20 % to 80 % – as an average and less than 20 % – as low. Conclusion. In the algorithm for predicting the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system it is necessary to include a combination with other pathology of cardiovascular system, with other organs and systems, with chromosomal abnormalities, with microdeletion and monogenic syndromes.

Can Shear-Wave Elastography be Used to Discriminate Obstructive Hydronephrosis from Nonobstructive Hydronephrosis in Children?

Science.gov (United States)

Dillman, Jonathan R; Smith, Ethan A; Davenport, Matthew S; DiPietro, Michael A; Sanchez, Ramon; Kraft, Kate H; Brown, Richard K J; Rubin, Jonathan M

2015-10-01

To determine if ultrasonographic (US) renal shear-wave speed (SWS) measurements obtained either before or after intravenous diuretic administration can be used to discriminate obstructive hydronephrosis from unobstructive hydronephrosis in children, with diuretic renal scintigraphy as the reference standard. Institutional review board approval and parental informed consent were obtained for this HIPAA-compliant prospective cross-sectional blind comparison with a reference standard. Between November 2012 and September 2014, 37 children (mean age, 4.1 years; age range, 1 month to 17 years) underwent shear-wave elastography of the kidneys immediately before and immediately after diuretic renal scintigraphy (reference standard for presence of urinary tract obstruction). Median SWS measurements (in meters per second), as well as change in median SWS (median SWS after diuretic administration minus median SWS before diuretic administration) were correlated with the amount of time required for kidney radiotracer activity to fall by 50% after intravenous administration of the diuretic (T1/2). Median SWS measurements were compared with degree of obstruction and degree of hydronephrosis with analysis of variance. Receiver operating characteristic (ROC) curves were created. Radiotracer T1/2 values after diuretic administration did not correlate with median SWS measurements obtained before (r = -0.08, P = .53) or after (r = -0.0004, P >.99) diuretic administration, nor did they correlate with intraindividual change in median SWS (r = 0.07, P = .56). There was no significant difference in pre- or postdiuretic median SWS measurements between kidneys with scintigraphic evidence of no, equivocal, or definite urinary tract obstruction (P > .5) or for median SWS measurements between kidneys with increasing degree of hydronephrosis (P > .5). ROC curves showed poor diagnostic performance of median SWS in discerning no, equivocal, or definite urinary tract obstruction (area under the

Radioimmunoassays in prenatal genetic diagnosis

International Nuclear Information System (INIS)

Santavy, J.; Janouskova, M.; Fingerova, H.; Krikal, Z.

1981-01-01

Prenatal medicine strives to reveal hereditary disorders and congenital malformations before delivery. The application of RIA significantly widened the spectrum of available diagnostic possibilities. We first focused our attention on determining alpha-1-fetoprotein in the amniotic fluid and the serum. We used the results of 33 examinations of the amniotic fluid and 100 samples of the blood serum to compile a graph of physiological values during pregnancy. The graph is used in assessing clinical samples in suspect congenital disorders of neural tube closure and other malformations. In the last two years we have tested testosterone determination in the amniotic fluid to ascertain prenatally the fetal sex in early pregnancy. The results were satisfactory and agreed in 70.6%. (author)

Clinical factors associated with postoperative hydronephrosis after ureteroscopic lithotripsy.

Science.gov (United States)

Kim, Sun Woo; Ahn, Ji Hoon; Yim, Sang Un; Cho, Yang Hyun; Shin, Bo Sung; Chung, Ho Seok; Hwang, Eu Chang; Yu, Ho Song; Oh, Kyung Jin; Kim, Sun-Ouck; Jung, Seung Il; Kang, Taek Won; Kwon, Dong Deuk; Park, Kwangsung

2016-09-01

This study aimed to determine the predictors of ipsilateral hydronephrosis after ureteroscopic lithotripsy for ureteral calculi. From January 2010 to December 2014, a total of 204 patients with ureteral calculi who underwent ureteroscopic lithotripsy were reviewed. Patients with lack of clinical data, presence of ureteral rupture, and who underwent simultaneous percutaneous nephrolithotomy (PNL) were excluded. Postoperative hydronephrosis was determined via computed tomographic scan or renal ultrasonography, at 6 months after ureteroscopic lithotripsy. Multivariable analysis was performed to determine clinical factors associated with ipsilateral hydronephrosis. A total of 137 patients were enrolled in this study. The mean age of the patients was 58.8±14.2 years and the mean stone size was 10.0±4.6 mm. The stone-free rate was 85.4%. Overall, 44 of the 137 patients (32.1%) had postoperative hydronephrosis. Significant differences between the hydronephrosis and nonhydronephrosis groups were noted in terms of stone location, preoperative hydronephrosis, impacted stone, operation time, and ureteral stent duration (all, phydronephrosis after ureteroscopic stone removal. Therefore, patients with these predictive factors undergo more intensive imaging follow-up in order to prevent renal deterioration due to postoperative hydronephrosis.

Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

Energy Technology Data Exchange (ETDEWEB)

Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

2010-02-15

We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

Prevention of congenital defects induced by prenatal alcohol exposure (Conference Presentation)

Science.gov (United States)

Sheehan, Megan M.; Karunamuni, Ganga; Pedersen, Cameron J.; Gu, Shi; Doughman, Yong Qiu; Jenkins, Michael W.; Watanabe, Michiko; Rollins, Andrew M.

2017-02-01

Over 500,000 women per year in the United States drink during pregnancy, and 1 in 5 of this population also binge drink. Up to 40% of live-born children with prenatal alcohol exposure (PAE) present with congenital heart defects (CHDs) including life-threatening outflow and valvuloseptal anomalies. Previously we established a PAE model in the avian embryo and used optical coherence tomography (OCT) imaging to assay looping-stage (early) cardiac function/structure and septation-stage (late) cardiac defects. Early-stage ethanol-exposed embryos had smaller cardiac cushions (valve precursors) and increased retrograde flow, while late-stage embryos presented with gross head/body defects, and exhibited smaller atrio-ventricular (AV) valves, interventricular septae, and aortic vessels. However, supplementation with the methyl donor betaine reduced gross defects, prevented cardiac defects such as ventricular septal defects and abnormal AV valves, and normalized cardiac parameters. Immunofluorescent staining for 5-methylcytosine in transverse embryo sections also revealed that DNA methylation levels were reduced by ethanol but normalized by co-administration of betaine. Furthermore, supplementation with folate, another methyl donor, in the PAE model appeared to normalize retrograde flow levels which are typically elevated by ethanol exposure. Studies are underway to correlate retrograde flow numbers for folate with associated cushion volumes. Finally, preliminary findings have revealed that glutathione, a key endogenous antioxidant which also regulates methyl group donation, is particularly effective in improving alcohol-impacted survival and gross defect rates. Current investigations will determine whether glutathione has any positive effect on PAE-related CHDs. Our studies could have significant implications for public health, especially related to prenatal nutrition recommendations.

FUNCTIONALLY UNIVENTRICULAR HEARTS: IMPACT OF PRE-NATAL DIAGNOSIS

Directory of Open Access Journals (Sweden)

Antonio Francesco Corno

2015-02-01

Full Text Available Within the last few decades the pre-natal echocardiographic diagnosis of congenital heart defects has made substantial progresses, particularly for the identification of complex malformation. Functionally univentricular hearts categorize a huge variety of heart malformations. Since no one of the patients with these congenital heart defects can ever undergo a bi-ventricular type of repair, early recognition and decision-making from the neonatal period are required in order to allow for appropriate multiple-step diagnostic and treatment procedures, either of interventional cardiology and/or surgery, on the pathway of univentricular heart. In the literature strong disagreements exist about the potential impact of the pre-natal diagnosis on the early and late outcomes of complex congenital heart defects. This review of the recent reports has been undertaken to better understand the impact of pre-natal diagnosis in functionally univentricular hearts taking into consideration the following topics:•pre-natal screening•outcomes and survival•general morbidity•neurologic and developmental consequences•pregnancy management and delivery planning•resources utilization and costs/benefits issues•ethical implications, parents counseling, interruption of pregnancy versus treatment

Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe.

Science.gov (United States)

Garne, Ester; Loane, Maria; de Vigan, Catherine; Scarano, Gioacchino; de Walle, Hermien; Gillerot, Yves; Stoll, Claude; Addor, Marie-Claude; Stone, David; Gener, Blanca; Feijoo, Maria; Mosquera-Tenreiro, Carmen; Gatt, Miriam; Queisser-Luft, Annette; Baena, Neus; Dolk, Helen

2004-11-01

To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. Analysis of data from population-based registries of CM. 25 400 cases of CM recorded by 14 EUROCAT registries covering a total population of 1,013,352 births 1995-99. US were performed in 91% of cases, and positively detected CM in 35% of cases. AC was performed in 24% of the cases and CVS in 3% of cases. Thirty-eight percent of invasive tests gave positive results. Fifty-two percent of cases with maternal age > or = 35 years had an invasive test performed compared to 20% of cases with younger mothers. Considerable variation was found between registries in the uptake rate of invasive tests in cases with older maternal age and on the use of invasive tests with only four regions employing CVS techniques in at least a third of the cases having invasive tests. For chromosomal anomalies US gave positive results in 46% of cases with maternal age or = 35 years with US performed. Prenatal US was performed in 91% of all pregnancies with CM but the test was only positive in a third of the cases. There was large regional variation in the uptake rate of invasive tests with maternal age of 35 years or more. For every CVS carried out there were nine AC tests. US is an important tool in the prenatal diagnosis of chromosomal anomalies in Europe. Copyright 2004 John Wiley & Sons, Ltd.

Prenatal suspicion and postnatal diagnosis of urinary tract malformation in children

International Nuclear Information System (INIS)

Krzemien, G.; Roszkowska-Blaim, M.; Szmigielska, A.; Wojnar, J.; Kostro, I.; Sekowska, R.; Karpinska, M.; Madzik, J.; Biejat, A.; Majkowska, Z.; Marcinski, A.

2005-01-01

Introduction of prenatal ultrasonography (USG) in fetus diagnostic caused early detection of congenital urinary tract abnormalities. Dilatation of renal pelvis, which is detected in ultrasonography from 16 week of gestational age is the most common abnormality in fetal urinary tract. The aim of the study was to assess the frequency of congenital abnormalities in urinary tract in children with prenatal suspicion of anomalies. The retrospective study included 100 children with prenatal suspicion of congenital abnormalities in urinary tract. Changes in urinary tract were detected in ultrasonography between 18-41 (mean 32,6±5,6) week of gestational age. Unilateral dilatation of urinary tract was found in 57% fetuses, bilateral dilatation in 31%, others anomalies in 12% fetuses. Ultrasonography of urinary tract was done in all children in 1-122 (mean 17,5±20,5) day of life, cystourethrography in 93% of children, renal dynamic scintygraphy in 52%, renal static scintygraphy in 16% and urography in 39% of children. Congenital urinary tract abnormalities were detected in 63% of children. Transient dilatation of renal pelvis was observed in 25% of children. We didn't find any abnormalities in 12% patients. The most common changes in urinary tract were: ureteropelvic junction obstruction (22%), vesicoureteral reflux (15%), ureterovesical junction obstruction (7%), posterior urethral valve (7%) and polycystic renal dysplasia (7%). 33% children were qualified for invasive treatment. 1. Prenatal and postnatal ultrasonography of urinary tract allows detecting congenital abnormalities of urinary tract early age of life. 2. High percentage of abnormalities in urinary tract detected in prenatal ultrasonography orders cooperation between neonatologist, urologist and nephrologist. (author)

Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

International Nuclear Information System (INIS)

Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L.

2005-01-01

We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound

Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

Energy Technology Data Exchange (ETDEWEB)

Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L. [Singapore General Hospital (Singapore). Depts. of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology

2005-10-01

We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound.

Early detection of congenital syphilis

Directory of Open Access Journals (Sweden)

Nagalakshmi Chowdhary

2014-01-01

Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

[Diagnosis and treatment of symptomatic hydronephrosis in pregnancy].

Science.gov (United States)

Simonsen, Jane Angel; Graumann, Ole; Toft, Anja; Henriques, Carsten Ulrik; Walter, Steen

2015-09-14

Hydronephrosis in pregnancy is common in the second and third trimester. Only a few cases are symptomatic, caused by a ureteric stone or by the pregnancy itself. The clinical dilemma is when to treat and when not to treat. We propose a multidisciplinary management based on renal ultrasonography to verify hydronephrosis and renography to diagnose obstructive hydronephrosis. Obstruction with a high intra-renal pressure must be treated to avoid kidney dysfunction. Patients with pyonephrosis need immediate treatment.

Polyuria-associated hydronephrosis induced by xenobiotic chemical exposure in mice.

Science.gov (United States)

Yoshioka, Wataru; Kawaguchi, Tatsuya; Nishimura, Noriko; Akagi, Toshiya; Fujisawa, Nozomi; Yanagisawa, Hiroyuki; Matsumura, Fumio; Tohyama, Chiharu

2016-10-01

Hydronephrosis is a commonly found disease state characterized by the dilation of renal calices and pelvis, resulting in the loss of kidney function in the severest cases. A generally accepted etiology of hydronephrosis involves the obstruction of urine flow along the urinary tract. In the recent years, we have developed a mouse model of hydronephrosis induced by lactational exposure to dioxin and demonstrated a lack of anatomical obstruction in this model. We also showed that prostaglandin E 2 synthesis system plays a critical role in the onset of hydronephrosis. In the present study, we found that neonatal hydronephrosis was not likely to be associated with functional obstruction (impaired peristalsis) but was found to be associated with polyuria and low urine osmolality with the downregulation of proteins involved in the urine concentrating process. The administration of an antidiuretic hormone analog to the dioxin-exposed pups not only suppressed the increased urine output but also decreased the incidence and severity of hydronephrosis. In contrast to the case in pups, administration of dioxin to adult mice failed to induce polyuria and upregulation of prostaglandin E 2 synthesis system, and the adult mice were resistant to develop hydronephrosis. These findings suggest the possibility that polyuria could induce hydronephrosis in the absence of anatomical or functional obstruction of the ureter. It is concluded that the present animal model provides a unique example of polyuria-associated type of hydronephrosis, suggesting a need to redefine this disease state. Copyright © 2016 the American Physiological Society.

Sirenomelia: A Rare Case of Foetal Congenital Anomaly

OpenAIRE

Dharmraj, Meena; Gaur, Sumitra

2012-01-01

Sirenomelia, alternatively known as ?mermaid syndrome? is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid?. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the fi...

The prognosis of surgically treated congenital hydronephrosis after diagnosis in utero

DEFF Research Database (Denmark)

Thorup, Jørgen Mogens; Mortensen, T; Diemer, Henrik

1985-01-01

Nine patients with a prenatal ultrasonic diagnosis of unilateral ureteropelvic junction obstruction underwent pyeloplasty in early neonatal life. Based on radiological and renographical assessment of the results, immediate postnatal intervention had no demonstrable advantage over those subjects i...

Review of chorionic Villus sampling in prenatal diagnosis | Oloyede ...

African Journals Online (AJOL)

Invasive prenatal diagnosis continues to be gold standard in pregnancies at increased risk of congenital abnormalities with chorionic villus sampling being one of the principal methods of prenatal diagnosis. Although not widely available in most developing countries, chorionic villus sampling is the procedure of choice for ...

Clinical factors associated with postoperative hydronephrosis after ureteroscopic lithotripsy

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Sun Woo Kim

2016-09-01

Full Text Available Purpose: This study aimed to determine the predictors of ipsilateral hydronephrosis after ureteroscopic lithotripsy for ureteral calculi. Materials and Methods: From January 2010 to December 2014, a total of 204 patients with ureteral calculi who underwent ureteroscopic lithotripsy were reviewed. Patients with lack of clinical data, presence of ureteral rupture, and who underwent simultaneous percutaneous nephrolithotomy (PNL were excluded. Postoperative hydronephrosis was determined via computed tomographic scan or renal ultrasonography, at 6 months after ureteroscopic lithotripsy. Multivariable analysis was performed to determine clinical factors associated with ipsilateral hydronephrosis. Results: A total of 137 patients were enrolled in this study. The mean age of the patients was 58.8±14.2 years and the mean stone size was 10.0±4.6 mm. The stone-free rate was 85.4%. Overall, 44 of the 137 patients (32.1% had postoperative hydronephrosis. Significant differences between the hydronephrosis and nonhydronephrosis groups were noted in terms of stone location, preoperative hydronephrosis, impacted stone, operation time, and ureteral stent duration (all, p<0.05. On multivariable analysis, increasing preoperative diameter of the hydronephrotic kidney (adjusted odds ratio [OR], 1.21; 95% confidence interval [CI], 1.12–1.31; p=0.001 and impacted stone (adjusted OR, 3.01; 95% CI, 1.15–7.61; p=0.031 independently predicted the occurrence of postoperative hydronpehrosis. Conclusions: Large preoperative diameter of the hydronephrotic kidney and presence of impacted stones were associated with hydronephrosis after ureteroscopic stone removal. Therefore, patients with these predictive factors undergo more intensive imaging follow-up in order to prevent renal deterioration due to postoperative hydronephrosis.

Experience of prenatal consultation in Zaporizhzhia region over the 2011-2015 years

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N. V. Avramenko

2016-08-01

Full Text Available Congenital malformations are one of the main causes of high infant mortality and disability from childhood. Medical and genetic counseling is an important integral part of prenatal diagnosis. Aim. The experience of the work of prenatal consultation at the clinic of Zaporizhzhya Regional Center of Human Reproduction for the 2011- 2015 years has been analyzed. Modern methods of prenatal diagnosis, including mass and selective testing of pregnant women on birth defects and chromosomal abnormalities by ultrasound examination and evaluation of maternal serum markers, as well as prenatal, cytogenetic diagnosis of chromosomal diseases in high-risk groups have been used for the early detection and prevention of birth of children with hereditary diseases in the Zaporizhzhia region. Methods and results. 2,528 Pregnant women with suspected congenital malformations of the fetus have been examined. To adequately assess the perinatal prognosis and develop tactics of pregnancy in the early neonatal period the diagnosis of pregnant women included consultation of geneticist, obstetrician - gynecologist, others specialists. Malformations of the fetus have been identified in 1.435 pregnant women. Conclusions. To identify chromosomal aberrations and congenital malformations in the fetus the prenatal consultation defines: the forecast for the life and health of the child, the tactics of pregnancy and birth, postnatal correction. Multiple malformations in the fetus and congenital central nervous system development occupy the first place in the structure of abortion during the observed period (2011-2015 years.

Hydronephrosis and utero-vaginal prolapse in postmenopausal women: management and treatment.

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Leanza, V; Ciotta, L; Vecchio, R; Zanghì, G; Maiorana, A; Leanza, G

2015-01-01

Pelvic organ prolapse is a multifactorial disease. Aim was to evaluate the effect of the whole surgical correction of pelvic floor on hydronephrosis due to severe prolapse. A retrospective case study on 250 patients presenting with severe uterovaginal prolapse was carried out. Hydronephrosis was found in 32/234 (13.7 %). All patients underwent hysterectomy, vaginal apex axial suspension, posterior and anterior repair, vaginally. Prepubic TICT (Tension free Incontinence Cystocoele Treatment) was done in 38 cases (3 with hydronephrosis). Of the 32/234 (13.7 %) patients with hydronephrosis, 18/32 (56.25%) had complete resolution of hydronephrosis after treatment, 14/32 (43.75%) had a reduction of calico-pyelic dilatation, among them 8 patients had a second degree and 6 a first degree of hydronephrosis. Vaginal-hysterectomy, axial apex suspension, anterior and posterior repair resulted in either complete resolution or improvement of hydronephrosis. Prepubic TICT did not interfere on mechanical obstruction and maintained postoperative continence in the event of occult Stress Urinary Incontinence (SUI).

Women’s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity

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Mary E. Norton

2014-01-01

Full Text Available Little is known about women’s comparative attitudes towards prenatal testing for different categories of genetic disorders. We interviewed women who delivered healthy infants within the past year and assessed attitudes towards prenatal screening and diagnostic testing, as well as pregnancy termination, for Down syndrome (DS, fragile X (FraX, cystic fibrosis (CF, spinal muscular atrophy (SMA, phenylketonuria (PKU and congenital heart defects (CHD. Ninety-five women aged 21 to 48 years participated, of whom 60% were Caucasian, 23% Asian, 10% Latina and 7% African American; 82% were college graduates. Ninety-five to ninety-eight percent indicated that they would have screening for each condition, and the majority would have amniocentesis (64% for PKU to 72% for SMA. Inclinations regarding pregnancy termination varied by condition: Whereas only 10% reported they would probably or definitely terminate a pregnancy for CHD, 41% indicated they would do so for DS and 62% for SMA. Most women in this cohort reported that they would undergo screening for all six conditions presented, the majority without the intent to terminate an affected pregnancy. These women were least inclined to terminate treatable disorders (PKU, CHD versus those associated with intellectual disability (DS, FraX and were most likely to terminate for SMA, typically lethal in childhood.

High-Grade Hydronephrosis Predicts Poor Outcomes After Radical Cystectomy in Patients with Bladder Cancer

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Kim, Dong Suk; Cho, Kang Su; Lee, Young Hoon; Cho, Nam Hoon; Oh, Young Taek

2010-01-01

We examined whether the presence and severity of preoperative hydronephrosis have prognostic significance in patients who underwent radical cystectomy for transitional cell carcinoma of the bladder. The medical records of 457 patients who underwent radical cystectomy for bladder cancer between 1986 and 2005 were retrospectively reviewed. Following the Society for Fetal Urology grading system, patients were divided into low-, and high-grade hydronephrosis groups. Clinicopathologic factors associated with preoperative hydronephrosis and survival were evaluated. Of a total of 406 patients, unilateral hydronephrosis was found in 74 (18.2%), bilateral hydronephrosis in 11 (2.7%), and no hydronephoris in 321 (79.1%). Low-grade hydronephrosis was found in 57 (12.2%) patients and high-grade hydronephrosis in 28 (6%). Preoperative hydronephrosis was related to higher pT stage and lymph node invasion. In univariate analysis, the presence of hydronephrosis, hydronephrosis grade, age, pT and pN stage, tumor grade, surgical margin, number of retrieved nodes, carcinoma in situ, and lymphovascular invasion were significant prognostic factors for cancer-specific survival. In multivariate analysis, bilateral hydronephrosis and high-grade hydronephrosis remained significant predictors for decreased survival. The presence of preoperative hydronephrosis, and high-grade hydronephrosis are significant prognostic factors in patients with bladder cancer after radical cystectomy. PMID:20191034

Clinical outcomes of hydronephrosis in patients with systemic lupus erythematosus.

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Hong, Seokchan; Kim, Yong-Gil; Ahn, Soo Min; Bae, Seung-Hyeon; Lim, Doo-Ho; Kim, Jeong Kon; Lee, Chang-Keun; Yoo, Bin

2016-12-01

Hydronephrosis is a rare complication of systemic lupus erythematosus (SLE). Bladder and/or gastrointestinal involvement in SLE are associated with development of hydronephrosis, but the management and treatment outcomes of hydronephrosis are largely unknown. Therefore, we investigated the clinical manifestations and factors associated with the treatment response in patients with SLE complicated by hydronephrosis. A retrospective analysis was performed of all 634 SLE patients who underwent computed tomography and/or ultrasonography between January 1998 and December 2013. We reviewed the clinical characteristics and treatment outcomes of patients with SLE-associated hydronephrosis. Hydronephrosis was identified in 15 patients with SLE complicated by cystitis and/or enteritis. All patients were treated initially with moderate to high doses of corticosteroids. A follow-up imaging study showed that 11 (73.3%) of 15 patients experienced improvements in hydronephrosis, and urinary obstruction was resolved without urological intervention in the majority of these patients (8/11, 72.7%). The four patients who experienced no improvement in hydronephrosis were older than those who responded to treatment (median age [interquartile range]; 43.0 [37.5-53.0] years vs. 28.0 [21.0-38.5] years; P = 0.026). In addition, delayed treatment (≥ 1 month after onset of symptoms) with corticosteroids was more frequently observed in the non-responding patients than in the responding patients (P = 0.011). Our findings suggest that treatment with corticosteroids alone leads to favorable outcomes in patients with SLE-associated hydronephrosis, except when treatment is delayed, particularly in elderly patients. © 2015 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

Hydronephrosis in patients with cervical cancer: an assessment of morbidity and survival.

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Patel, Krishna; Foster, Nathan R; Kumar, Amanika; Grudem, Megan; Longenbach, Sherri; Bakkum-Gamez, Jamie; Haddock, Michael; Dowdy, Sean; Jatoi, Aminah

2015-05-01

Hydronephrosis is a frequently observed but understudied complication in patients with cervical cancer. To better characterize hydronephrosis in cervical cancer patients, the current study sought (1) to describe hydronephrosis-associated morbidity and (2) to analyze the prognostic effect of hydronephrosis in patients with a broad range of cancer stages over time. The Mayo Clinic Tumor Registry was interrogated for all invasive cervical cancer patients seen at the Mayo Clinic from 2008 through 2013 in Rochester, Minnesota; these patients' medical records were then reviewed in detail. Two hundred seventy-nine cervical cancer patients with a median age of 49 years and a range of cancer stages were included. Sixty-five patients (23 %) were diagnosed with hydronephrosis at some point during their disease course. In univariate analyses, hydronephrosis was associated with advanced cancer stage (p hydronephrosis. All but one patient underwent stent placement or urinary diversion; hydronephrosis-related morbidity included pain, urinary tract infections, nausea and vomiting, renal failure, and urinary tract bleeding. In landmark univariate survival analyses, hydronephrosis was associated with worse survival at all time points. In landmark multivariate analyses (adjusted for patient age, stage, cancer treatment, and tumor histology), hydronephrosis was associated with a trend toward worse survival over time (hazard ratios ranged from 1.47 to 4.69). Hydronephrosis in cervical cancer patients is associated with notable morbidity. It is also associated with trends toward worse survival-even if it occurs after the original cancer diagnosis.

Giant hydronephrosis mimicking progressive malignancy

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Schrader, Andres Jan; Anderer, Georgia; von Knobloch, Rolf; Heidenreich, Axel; Hofmann, Rainer

2003-01-01

Background Cases of giant hydronephroses are rare and usually contain no more than 1–2 litres of fluid in the collecting system. We report a remarkable case of giant hydronephrosis mimicking a progressive malignant abdominal tumour. Case presentation A 78-year-old cachectic woman presented with an enormous abdominal tumour, which, according to the patient, had slowly increased in diameter. Medical history was unremarkable except for a hysterectomy >30 years before. A CT scan revealed a giant cystic tumour filling almost the entire abdominal cavity. It was analysed by two independent radiologists who suspected a tumour originating from the right kidney and additionally a cystic ovarian neoplasm. Subsequently, a diagnostic and therapeutic laparotomy was performed: the tumour presented as a cystic, 35 × 30 × 25 cm expansive structure adhesive to adjacent organs without definite signs of invasive growth. The right renal hilar vessels could finally be identified at its basis. After extirpation another tumourous structure emerged in the pelvis originating from the genital organs and was also resected. The histopathological examination revealed a >15 kg hydronephrotic right kidney, lacking hardly any residual renal cortex parenchyma. The second specimen was identified as an ovary with regressive changes and a large partially calcified cyst. There was no evidence of malignant growth. Conclusion Although both clinical symptoms and the enormous size of the tumour indicated malignant growth, it turned out to be a giant hydronephrosis. Presumably, a chronic obstruction of the distal ureter had caused this extraordinary hydronephrosis. As demonstrated in our case, an accurate diagnosis of giant hydronephrosis remains challenging due to the atrophy of the renal parenchyma associated with chronic obstruction. Therefore, any abdominal cystic mass even in the absence of other evident pathologies should include the differential diagnosis of a possible hydronephrosis. Diagnostic

Effect of hydronephrosis on survival in advanced stage cervical cancer.

Science.gov (United States)

Goklu, Mehmet Rıfat; Seckin, Kerem Doga; Togrul, Cihan; Goklu, Yasemin; Tahaoglu, Ali Emre; Oz, Murat; Ertas, Ibrahim Egemen

2015-01-01

Hydronephrosis is frequently encountered in advanced stage cervical cancers, and may be associated with mortality. In the present study, we aimed to demonstrate the effect of hydronephrosis on survival in patients with inoperable advanced stage cervical cancer. The study data were acquired by retrospective analysis of the patient records belonging to 165 women with FIGO (International Federation of Gynecology and Obstetrics) stage-IIIB or more advanced cervical cancer, which were not surgical candidates. Parameters including patient age, pathological diagnosis, disease stage, pelvic sidewall extension, presence of hydronephrosis and administration of chemoradiation were analyzed. Further, the effects of these variables on survival were assessed. P values less than 0.05 were considered statistically significant. The distribution of the study patients according to disease stage was as follows: 131 (79.4%) had stage-IIIB, 18 (10.9%) had stage-IVB and 16 (% 9.7) patients had stage-IVA disease. Hydronephrosis was not evident in 91 (55.2%) of these patients, whereas 41 (24.8%) had unilateral and 33 (20%) patients had bilateral hydronephrosis. When compared to mean survival in patients who did not have hydronephrosis, survival was significantly shortened in patients who had bilateral and unilateral hydronephrosis (phydronephrosis (p>0.05). Although patient age, pathological type, pelvic involvement, and chemotherapy treatment rates were similar (p>0.05), radiotherapy requirement rate and disease stage were significantly different among the study groups (pHydronephrosis was found to be a significant predictor of poor survival in patients with advanced stage cervical cancer, irrespective of unilateral or bilateral involvement.While waiting for future studies with larger sample sizes, we believe that the FIGO stages in advanced cervical cancer could further be stratified into subgroups according to presence or absence of hydronephrosis.

Re: Prevalence of Hydronephrosis in Women with Advanced Pelvic Organ Prolapse

OpenAIRE

Lokman İrkılata

2015-01-01

In pelvic organ prolapse (POP) patients, hydronephrosis may develop and obstructive uropathy may be encountered as a result. Though the development mechanism of hydronephrosis is not fully known, the most frequently blamed mechanism is voiding dysfunction and bladder outlet obstruction (BOO). This year, Dancz et al. included 180 female patients with POP in their study and determined the prevalence of hydronephrosis with POP and the clinical and urodynamic parameters relating to hydronephrosis...

Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy

Science.gov (United States)

Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

2016-01-01

Abstract To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy. In the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment. PMID:26945416

Ascites, a New Cause for Bilateral Hydronephrosis: Case Report

Science.gov (United States)

Jain, Deepika; Dorairajan, Smrita; Misra, Madhukar

2009-01-01

Bilateral hydronephrosis secondary to urinary obstruction leads to a buildup of back pressure in the urinary tract and may lead to impairment of renal function. We present a case of a 57-year-old male with a history of alcoholic liver cirrhosis, who presented with tense ascites and acute renal failure. Bilateral hydronephrosis was seen on abdominal ultrasound. Multiple large-volume paracenteses resulted in resolution of hydronephrosis and prompt improvement in renal function. PMID:19802498

Intermittent hydronephrosis

International Nuclear Information System (INIS)

Knop, J.; Vogel, H.; Hupe, W.

1981-01-01

An intermittent hydronephrosis was observed in a 40-year old patient. This disease pattern is due to an incongruity between the formation of urine and the transport capacity in the ureteropelvic junction. The latent impediment of flow becomes manifest with increased urine secretion. Irreversible renal damage can be the result of the repeatedly occurring hydronephrotic crises. (orig.) [de

Incidence and Predictors for Ipsilateral Hydronephrosis Following Ureteroscopic Lithotripsy.

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Barbour, Meredith L; Raman, Jay D

2015-09-01

To review our experience in using ureteroscopy (URS) with lithotripsy for renal or ureteral calculi to determine the incidence and predictors of postprocedural ipsilateral hydronephrosis. Records of 324 URS cases for renal or ureteral calculi with imaging performed 4-12 weeks postprocedure were reviewed. Ipsilateral hydronephrosis was determined by computed tomography scan or renal ultrasound. Univariate and multivariate analyses determined the factors associated with hydronephrosis. 176 men and 148 women with a median age of 50 years were included. Median stone size was 6 mm and operative duration was 60 minutes; 30% of patients had multiple calculi; and 35% had undergone a prior ipsilateral URS. Overall, 49 of 324 patients (15%) had evidence of hydronephrosis, with 65% of these patients having symptoms and 40% requiring ancillary procedures. On multivariate analysis, increasing stone diameter (odds ratio [OR] 8.9, 95% confidence interval [CI] 1.9-23.8, P = .03), prior ipsilateral URS (OR 7.7, 95% CI 1.8-28.2, P = .006), longer operative duration (OR 6.5, 95% CI 1.8-16.3, P = .02), and renal colic symptoms (OR 48.3, 95% CI 14.7-71.4, P hydronephrosis. Conversely, other factors including stone impaction at procedure, ureteral dilation, use of an access sheath, intraoperative perforation, or use of a stent did not associate with ipsilateral hydronephrosis. In this contemporary cohort study, 15% of patients undergoing URS had evidence of ipsilateral hydronephrosis. Larger stone size, longer OR duration, prior ipsilateral URS, and recurrent colic were associated with an increased likelihood for this observation. Patients and stone cases with such characteristics likely warrant imaging modalities beyond plain radiography. Copyright © 2015 Elsevier Inc. All rights reserved.

Urinary tract infection and vesicoureteral reflux in children with mild antenatal hydronephrosis.

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Sencan, A; Carvas, F; Hekimoglu, I C; Caf, N; Sencan, A; Chow, J; Nguyen, H T

2014-12-01

The postnatal management of mild antenatal hydronephrosis (ANH) remains controversial. The purpose of this study was to evaluate the incidence of UTI and VUR in children with mild ANH in order to determine the necessity of antibiotic prophylaxis (ABP) and VCUG. The data of 1511 patients with various grades of ANH who were referred to Department of Urology, Boston Children's Hospital between January 1998 and January 2010 were reviewed and 760 patients who had mild ANH were identified. The inclusion criteria were: 1) A confirmed report of ANH or actual prenatal ultrasound (US) images. 2) Postnatal evaluation and management conducted at the hospital. 3) Persistent mild hydronephrosis on the first US done between two weeks and three months of age. 4) No other US findings such as ureteral dilatation, duplication anomalies or bladder abnormalities. 5) At least one three-month follow up. Univariate statistical analysis was performed using a Student's t test. Of the 760 patients who were identified, 608 (80%) were males, and 225 (30%) had bilateral mild hydronephrosis. Of these, 475 patients (63%) underwent an initial screening VCUG. VUR was identified in 13 patients (1.7%) with grades varying from 1 to 5. At follow up, hydronephrosis resolved in 67% of the renal units and worsened in 3.3%. Among the 692 patients with available follow-up data, 23 (3.3%) had a documented UTI. Twelve of these children had an initial screening VCUG that was negative for VUR. Of these 12 patients, seven underwent a subsequent RNC with none having VUR; five of the 12 patients did not undergo a repeat evaluation for VUR (four had a UTI after the screening VCUG and one had an afebrile UTI). Eleven of the 23 children with mild ANH did not have an initial screening VCUG, and all underwent a subsequent VCUG/RNC. Only two children were then found to have VUR Grade 4-5. The incidence of UTI and VUR in children with mild ANH is low. Consequently, routine VCUG screening for VUR and the use of long

[Prenatal diagnosis of a right thoracic congenital ectopic kidney with a diaphragmatic hernia: a combination with a good prognosis].

Science.gov (United States)

Cessans, C; Pharamin, J; Crouzet, K; Kessler, S; Puget, C; Bouali, O; Galinier, P; Marcoux, M-O

2015-11-01

Ectopic intrathoracic kidney is a rare congenital anomaly, usually asymptomatic. This anomaly is sometimes associated with a diaphragmatic hernia. Few cases of this combination have been described, often in the absence of a prenatal diagnosis. We report on the case of a female newborn infant who was diagnosed with an ectopic intrathoracic right kidney and a diaphragmatic hernia upon 33 weeks of gestation. The patient underwent surgery on the first day of life and the respiratory and renal outcomes were simple. We review the literature and discuss the seemingly good prognosis of this combination. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Comparison of foetal US and MRI in the characterisation of congenital lung anomalies

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Alamo, Leonor, E-mail: leonor.alamo@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Reinberg, Olivier, E-mail: Olivier.reinberg@chuv.ch [Department of Pediatric Surgery, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Vial, Yvan, E-mail: Yvan.vial@chuv.ch [Unit of Prenatal Obstetric Diagnosis, Department of Gynecology and Obstetrics, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Gudinchet, François, E-mail: Francois.Gudinchet@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Meuli, Reto, E-mail: Reto.Meuli@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland)

2013-12-01

Objectives: To compare the accuracy of prenatal ultrasonography (US) to magnetic resonance imaging (MRI) in the characterisation of congenital lung anomalies, and to assess their agreement with final diagnosis. To evaluate the influence of additional MRI information on therapeutic management. Methods: 26 prenatal congenital lung anomalies detected consecutively between 2006 and 2012 were retrospectively evaluated. Lesions were initially observed at prenatal US and further investigated with MRI. Prenatal US and MRI imaging findings, and suggested diagnosis were compared with the final diagnosis, obtained from autopsies (4), pathological evaluation following surgical resection (15) and postnatal imaging studies (7). Results: Postnatal diagnoses included 7 congenital pulmonary airway malformations, 8 complex lesions, 7 overinflations, 1 sequestration, 1 bronchogenic cyst, 1 blastoma and 1 bilateral lymphangioma. Suggested prenatal US and MRI diagnosis was correct in 34.6% and 46.2% of patients, respectively, mainly isolated lung lesions with typical imaging findings. Nonspecific imaging findings at US and MRI studies were observed in 38.4% of cases. In 42% of the operated anomalies, pathological dissection revealed the presence of complex anomalies. MRI changed the US diagnosis, but not the further management in 9.7% of the lesions. Conclusions: Prenatal US and MRI showed a high accuracy in the diagnosis of isolated congenital lung lesions with typical imaging findings. However, overall characterisation rates were low, because of both a high percentage of complex lesions and of lesions with nonspecific imaging findings. MRI was better than US in characterising complex lesions, but its additional information did not influence therapy decisions.

Sirenomelia: a rare case of foetal congenital anomaly.

Science.gov (United States)

Dharmraj, Meena; Gaur, Sumitra

2012-10-01

Sirenomelia, alternatively known as 'mermaid syndrome' is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid'. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the findings, relative to the present literature and related etiopathogenesis.

[Recurrence of common truncus arteriosus. Prenatal diagnosis of a case report].

Science.gov (United States)

Ferry, P; Massias, C; Salzard, C; Anguill, C; Olleac, A; Quentin, M

1994-01-01

We report a case of isolated truncus arteriosis diagnosed prenatally which recurred during a subsequent pregnancy. This observation would suggest an increased risk of recurrent single trunk malformation as compared with other congenital heart diseases, in agreement with our understanding of the genetic processes involved. A prenatal screening can be achieved with a systematic examination of the fetal morphology. Prognosis is severe and prenatal diagnosis is difficult.

Prenatal Diagnosis and Postnatal Ultrasound Findings of Cloacal Anomaly: A Case Report

Directory of Open Access Journals (Sweden)

Lívia Teresa Moreira Rios

2012-01-01

Full Text Available Cloacal malformation is an extremely rare fetal pathological condition that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography on a 20-year-old caucasian woman (G4P1A2 at 33 weeks of pregnancy showed the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambiguous genitalia, and a single umbilical artery. The pregnancy developed accentuated oligohydramnios, and presence of a fetal brain-sparing effect was diagnosed using arterial Doppler velocimetry. The newborn showed abdominal distension, ambiguous genitalia, and rectal atresia, with a single perineal opening. Pelvic ultrasound done on the first day after delivery revealed the presence of a large retrovesical septated cystic mass of dense content in the fetal abdomen, and bilateral hydronephrosis. Hysterotomy was performed, and 70 mL of dense liquid was drained through an abdominal colostomy. The infant died on the 27th day of life as a result of infectious complications. Prenatal diagnosing of female urogenital anomalies is usually difficult because of their rarity, different types of manifestation, and lack of characteristic ultrasound signs. Presence of a septated cyst with dense content in the fetal abdomen confirms the finding of hydrometrocolpos, thus raising clinical suspicion of a cloacal anomaly.

Horseshoe lung with multiple congenital anomalies. Case report and review of the literature

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Hawass, N.D.; Badawi, M.G.; Fatani, J.A.; Meshari, A.A.; Edrees, Y.B.

A detailed radiologic and anatomic study of a 20-week old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, imperforate anus, and a single tracheo-esophageal tube (persistent esophago-trachea). The association of horseshoe lung with persistent esophago-trachea, microurethra, megacystis, bilateral hydroureters, hydronephrosis and phocomelia is, we believe, the first ever to have been recorded in the literature. Twenty-one cases of horseshoe lung have been reported in the literature. These cases were reviewed and a comparison with the present case is presented. The embryologic basis for these anomalies is also briefly discussed.

Hydronephrosis causes salt-sensitive hypertension in rats

DEFF Research Database (Denmark)

Carlström, Mattias; Wåhlin, Nils; Sällström, Johan

2006-01-01

BACKGROUND: Hypertension is a common disease in the Western world and approximately 5% of all cases are secondary to kidney malfunction. It is not clear whether unilateral hydronephrosis due to partial obstruction affects blood pressure. AIM: The aim of this study was to determine whether...... hypertension develops and to investigate the effects of different salt diets on the blood pressure in hydronephrotic animals. METHODS: Unilateral partial ureteral obstruction was created in 3-week-old Sprague-Dawley rats. A telemetric device was implanted 4-6 weeks later and blood pressure was measured...... on normal, low- and high-salt diets. Plasma samples were collected on all diets for renin analysis. RESULTS: All hydronephrotic animals developed hypertension that correlated to the degree of hydronephrosis. The blood pressure increased slowly with time and was salt sensitive. In severe hydronephrosis...

Correlation of Hydronephrosis Index to Society of Fetal Urology Hydronephrosis Scale

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Krishnan Venkatesan

2009-01-01

Full Text Available Purpose. We seek to correlate conventional hydronephrosis (HN grade and hydronephrosis index (HI. Methods. We examined 1207 hydronephrotic kidneys by ultrasound. HN was classified by Society of Fetal Urology guidelines. HN was then gauged using HI, a reproducible, standardized, and dimensionless measurement of renal area. We then calculated average HI for each HN grade. Results. Comparing HI to standard SFU HN grade, average HI is 89.3 for grade I; average HI is 83.9 for grade II; average HI is 73.0 for grade III; average HI is 54.6 for SFU grade IV. Conclusions. HI correlates well with SFU HN grade. The HI serves as a quantitative measure of HN. HI can be used to track HN over time. Versus conventional grading, HI may be more sensitive in defining severe (grades III and IV HN, and in indicating resolving, stable, or worsening HN, thus providing more information for clinical decision-making and HN management.

Endoscopic placement of ureteral stents for treatment of congenital bilateral ureteral stenosis in a dog.

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Lam, Nathaniel K; Berent, Allyson C; Weisse, Chick W; Bryan, Christine; Mackin, Andrew J; Bagley, Demetrius H

2012-04-15

A 5-year-old 8.6-kg (18.9-lb) spayed female Pug was evaluated because of chronic hematuria and recurrent urinary tract infections. Excretory urography, ultrasonography, and excretory CT urography were performed. Results indicated that the dog had bilateral hydronephrosis and hydroureter and suspected proximal ureteral stenosis. Retrograde ureteropyelography confirmed the presence of stenosis at the ureteropelvic junction of each ureter, along with a large amount of endoluminal ureteral debris. Clinical findings suggested that the dog had a congenital bilateral anomaly of the upper urinary tract. The dog was anesthetized, and 2 double-pigtail ureteral stents were placed cystoscopically with fluoroscopic guidance for immediate relief of the ureteropelvic junction obstructions. Each stent extended from the left or right renal pelvis to the urinary bladder. The procedures and the patient's recovery from anesthesia were uncomplicated. Continuing improvements in severity of hydronephrosis, hydroureter, and dysuria were evident during routine follow-up examinations at 2, 4, 12, 16, and 45 weeks after stent placement. Over the subsequent 12 months, all clinical signs remained resolved other than a urinary tract infection that was successfully treated with antimicrobials. Ureteral stenosis should be considered as a differential diagnosis for hydronephrosis in dogs, particularly when urinary tract calculi or neoplasia is not present. Chronic hematuria and recurrent urinary tract infections can be associated with this condition. Placement of ureteral stents may be a successful treatment option for ameliorization of congenital ureteral obstructions.

Congenital cytomegalovirus infection: contribution and best timing of prenatal MR imaging

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Cannie, Mieke M. [University Hospital Brugmann, Universite Libre de Bruxelles, Department of Radiology, Brussels (Belgium); UZ Brussel, Vrije Universiteit Brussel, Department of Radiology, Brussel (Belgium); Devlieger, Roland; Catte, Luc de; Valk, Elise van der [University Hospitals Leuven, Department of Obstetrics and Gynecology, Leuven (Belgium); Leyder, Mina; Foulon, Walter [UZ Brussel, Vrije Universiteit Brussel, Department of Obstetrics, Brussel (Belgium); Claus, Filip [University Hospitals Leuven, Department of Radiology, Leuven (Belgium); Onze-Lieve-Vrouw Hospital, Department of Radiology, Aalst (Belgium); Leus, Astrid [UZ Brussel, Vrije Universiteit Brussel, Department of Radiology, Brussel (Belgium); Cossey, Veerle [University Hospitals Leuven, Neonatal Intensive Care Unit, Leuven (Belgium); Foulon, Ina [UZ Brussel, Vrije Universiteit Brussel, Department of Otolaryngology - Head and Neck Surgery, Brussel (Belgium); Cos, Teresa; Jani, Jacques C. [University Hospital Brugmann, Universite Libre de Bruxelles, Department of Obstetrics and Gynecology, Brussels (Belgium); Bernaert, Anja [Sint-Augustinus Hospital, Department of Radiology, Antwerp (Belgium); Oyen, Raymond [University Hospitals Leuven, Department of Radiology, Leuven (Belgium)

2016-10-15

To predict sensorineural hearing loss (SNHL) and neurological impairment in congenital cytomegalovirus (cCMV) infection using MR imaging and define the best timing in pregnancy for prenatal assessment. In 121 patients with confirmed cCMV infection, brain features at MR imaging were respectively graded from 1 to 5: normal; isolated frontal/parieto-occipital hyperintensity; temporal periventricular hyperintensity; temporal/occipital cysts and/or intraventricular septa; migration disorders. Grading was correlated with postnatal SNHL and neurological impairment using regression analysis. In 51 fetuses with MR examinations at 26.9 and 33.0 weeks, the predictive value of SNHL and neurological impairment was compared using ROC curves. Postnatal follow-up showed SNHL in 18 infants and neurological impairment in 10. MR grading was predictive of SNHL and of neurological impairment (P < 0.001). In grade 1 or 2, none had SNHL and 1/74 had neurological impairment. The areas under ROC curves for prediction of postnatal SNHL and of neurological impairment from first and second MR examination were comparable. Our data suggest that in cCMV infection, prediction of SNHL and neurological impairment is feasible by fetal MR imaging with a high negative predictive value and can equally be done at 27 or 33 weeks of gestation. (orig.)

Congenital cytomegalovirus infection: contribution and best timing of prenatal MR imaging

International Nuclear Information System (INIS)

Cannie, Mieke M.; Devlieger, Roland; Catte, Luc de; Valk, Elise van der; Leyder, Mina; Foulon, Walter; Claus, Filip; Leus, Astrid; Cossey, Veerle; Foulon, Ina; Cos, Teresa; Jani, Jacques C.; Bernaert, Anja; Oyen, Raymond

2016-01-01

To predict sensorineural hearing loss (SNHL) and neurological impairment in congenital cytomegalovirus (cCMV) infection using MR imaging and define the best timing in pregnancy for prenatal assessment. In 121 patients with confirmed cCMV infection, brain features at MR imaging were respectively graded from 1 to 5: normal; isolated frontal/parieto-occipital hyperintensity; temporal periventricular hyperintensity; temporal/occipital cysts and/or intraventricular septa; migration disorders. Grading was correlated with postnatal SNHL and neurological impairment using regression analysis. In 51 fetuses with MR examinations at 26.9 and 33.0 weeks, the predictive value of SNHL and neurological impairment was compared using ROC curves. Postnatal follow-up showed SNHL in 18 infants and neurological impairment in 10. MR grading was predictive of SNHL and of neurological impairment (P < 0.001). In grade 1 or 2, none had SNHL and 1/74 had neurological impairment. The areas under ROC curves for prediction of postnatal SNHL and of neurological impairment from first and second MR examination were comparable. Our data suggest that in cCMV infection, prediction of SNHL and neurological impairment is feasible by fetal MR imaging with a high negative predictive value and can equally be done at 27 or 33 weeks of gestation. (orig.)

Neuroimaging findings of congenital Zika virus infection: a pictorial essay.

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Zare Mehrjardi, Mohammad; Poretti, Andrea; Huisman, Thierry A G M; Werner, Heron; Keshavarz, Elham; Araujo Júnior, Edward

2017-03-01

Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses. Postnatal (acquired) ZIKV infection usually has an asymptomatic or mildly symptomatic course, while prenatal (congenital) ZIKV infection has a more severe course and may cause severe brain anomalies that are described as congenital Zika syndrome. In this pictorial essay, we aim to illustrate the prenatal and postnatal neuroimaging findings that may be seen in fetuses and neonates with congenital Zika syndrome, and will discuss possible radiological differential diagnoses. A detailed knowledge of these findings is paramount for an early correct diagnosis, prognosis determination, and counseling of the affected children and families.

Evaluation of Postoperative Hydronephrosis Following Ureteroscopy in Pediatric Population: Incidence and Predictors.

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Gökce, Mehmet Ilker; Telli, Onur; Özkıdık, Mete; Akıncı, Aykut; Hajıyev, Perviz; Soygür, Tarkan; Burgu, Berk

2016-07-01

To identify the incidence and associated factors of the postoperative hydronephrosis in pediatric patients who underwent ureterorenoscopy (URS) for renal or ureteral stones. We evaluated the results of 116 patients who underwent semirigid or flexible URS retrospectively. Primary end points of the study were to determine the incidence of postoperative hydronephrosis and factors associated with the development of postoperative hydronephrosis. Logistic regression analysis was used to define factors associated with the presence of hydronephrosis. Mean age of the population was 9.5 years and mean stone size was 9.4 mm. Hydronephrosis was detected in 32 (27.6%) patients. Stone-free status was achieved in 101 (87%) patients. Univariate analysis revealed history of ipsilateral URS, duration of operation, presence of impacted stone, development of ureteral injury during operation, and presentation with a renal colic episode as the parameter associated with increased risk of hydronephrosis. History of ipsilateral URS (odds ratio: 1.664, P = .027), presence of impacted stones (odds ratio: 1.788, P = .014), and development of ureteral injury during operation (odds ratio: 1.106, P = .039) were found to be the independent markers of developing postoperative hydronephrosis in a multivariate analysis. Ipsilateral hydronephrosis following URS develops in a significant portion of patients. In patients with history of ipsilateral procedure and those with an impacted stone and had ureteral injury, the risk of postoperative hydronephrosis is higher; therefore, physicians should keep these parameters in mind in the decision-making process of selective imaging postoperatively. Copyright © 2016 Elsevier Inc. All rights reserved.

Peroxiredoxin I protein, a potential biomarker of hydronephrosis in fetal mice exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin.

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Liu, Mingxue; Liu, Jing; Liu, Xing; Wei, Guanghui

2014-06-01

In previous studies, we established an animal model of human congenital hydronephrosis with exposure of developing mice to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), but the etiopathogenesis is not entirely clear. The present study was to identify the changes that may be involved in the etiology at the protein level. C57BL/6J mice fetuses were treated with TCDD. Comparative proteomic analysis was adopted to identify the proteins associated with hydronephrosis induced by TCDD. Two-dimensional electrophoresis display revealed that 19 protein spots were differentially expressed in the upper urinary tract tissues in fetal mice after exposure to TCDD. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) identified 12 up-regulated proteins: peroxiredoxin I (Prx I), cadherin 6, gamma-actin, radixin, desmin, type II transforming growth factor-beta receptor, chromogranin B, serum albumin precursor, transferrin, hypothetical protein LOC70984, lipk protein, and zinc finger protein 336. Histochemical staining indicated that Prx I protein was positively expressed in the ureteric epithelium in the treated group, and not in the control group, which is consistent with MALDI-TOF-MS. Prx I protein may be a potential biomarker or responsive protein of hydronephrosis in fetal mice induced by TCDD. Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

[Neonatal tumours and congenital malformations].

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Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

exist on the neonatal period and the majority are from medical institutions registers. The prevalence varies from 15 to 31.6%. To explain this association, the hypotheses are based on prenatal exposures (preconceptional and transplacental exposure), to mutagenic and carcinogenic risk factors. Neonatal tumours are more often associated to congenital abnormalities than other pediatric cancers. The inclusion and classification criteria needs to be unified to better understand the association between the neonatal tumours and congenital abnormalities. The environmental history in all neonatal tumours associated to congenital abnormalities, including the constitutional and environmental risk factors, will help to improve our knowledge of the underlying prenatal mechanisms and to an advance in its prevention.

The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

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Hyun Ho Han

2016-03-01

Full Text Available BackgroundThe prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center.MethodsThe multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation.ResultsThe abortion rate was 28% (3/11. The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91% reported that they were satisfied with the multidisciplinary management in our center.ConclusionsAlthough a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy.

[Giant idiopathic hydronephrosis: toward a two-step therapeutic approach].

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Boudhaye, Taher Ismail; Sidimalek, Mohamed; Jdoud, Cheikhani

2017-01-01

Giant hydronephrosis is rare. It is usually caused by ureteropelvic junction syndrome. We here report the unusual case of a patient hospitalized with giant hydronephrosis associated with impaired general condition. Diagnosis was based on CT scan. The patient underwent deferred nephrectomy after percutaneous drainage.

Bilateral Hydronephrosis and Cystitis Resulting from Chronic Ketamine Abuse

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Vu Huy Tran

2014-07-01

Full Text Available Ketamine associated urinary dysfunction has become increasingly more common worldwide. Point-of-care ultrasound (POCUS is an established modality for diagnosing hydronephrosis in the emergency department. We describe a case of a young male ketamine abuser with severe urinary urgency and frequency in which POCUS performed by the emergency physician demonstrated bilateral hydronephrosis and a focally thickened irregular shaped bladder. Emergency physicians should consider using POCUS evaluate for hydronephrosis and bladder changes in ketamine abusers with lower urinary tract symptoms. The mainstay of treatment is discontinuing ketamine abuse. [West J Emerg Med. 2014;15(4:382-384.

The importance of hydronephrosis in percutaneous nephrolithotomy operation

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Mehmet Murat Rifaioğlu

2013-09-01

Full Text Available Objective: The aim of this study is to investigate the relationbetween hydronephrosis grade and preoperative,peroperative and postoperative data and to evaluate theclinical significance of hydronephrosis in percutaneousnephrolithotomy (PNL.Methods: One hundred and thirty-two patients who hadundergone PNL operation by same surgeon betweenFebruary 2009 and February 2013 were reviewed retrospectively.Patients’ characteristics, preoperative kidneystatus, operative data were investigated. Grade 1, 2 hydronephrosiswere determined as Group I, Grade 3, 4hydronephrosis were determined as Group II. Preoperative,peroperative and postoperative property differencesbetween groups were compared statistically. For the multivariateanalysis, logistic regression analysis was usedto determine independent predictors of hydronephrosis.Results: Patients mean age was 46.2±13.7 years (8-73.Operation mean time was 101(10-250 minutes. 56 and76 patients’ data were analyzed in Group I and GroupII, respectively. There was no difference in age, gender,BMI, and surgeon experience between groups. Droppingstone history in same kidney (p=0.012, stone diameter(p=0.022, the number of calyceal stones (p=0.005, presencestone in the other kidney (p=0.027, renal parenchymalthickness (p=0.026 and operation time (p=0.011had significantly in univariate analysis. In logistic regressionmodel, dropping stone history in the same kidney,the number of calyceal stones, presence stone in theother kidney and operation time had a relationship withhydronephrosis.Conclusion: In PNL, patients with low-grade hydronephrosismight have decreased complication rates dueto diminished operation time, which resulted in reducednumber of calyceal stones and stone size.Key words: Percutaneous nephrolithotomy, PNL, hydronephrosis,outcome

Hydronephrosis in childhood - reliability of ultrasound screening

International Nuclear Information System (INIS)

Diament, M.J.; Takasugi, J.; Kangarloo, H.

1984-01-01

The reliability of gray scale sonography for the screening of hydronephrosis is assessed in a retrospective clinical study of pediatric patients. The sensitivity was 89% and the specificity 95%. Discrepancies between the ultrasound and urographic diagnosis of mild hydronephrosis - which was usually not clinically significant - accounted for all of the errors. False positive studies can be reduced by scanning the kidneys with the bladder empty. False negative examinations may be due to the contrast induced diuresis of the urogram. (orig.)

Revised guidelines on management of antenatal hydronephrosis

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Sinha, A.; Bagga, A.; Krishna, A; Bajpai, M.; Srinivas, M.; Uppal, R.; Agarwal, I.

2013-01-01

Widespread antenatal screening has resulted in increased detection of anomalies of the kidneys and urinary tract. The present guidelines update the recommendations published in 2000. Antenatal hydronephrosis (ANH) is transient and resolves by the third trimester in almost one-half cases. The presence of oligohydramnios and additional renal or extrarenal anomalies suggests significant pathology. All patients with ANH should undergo postnatal ultrasonography; the intensity of subsequent evaluation depends on anteroposterior diameter (APD) of the renal pelvis and/or Society for Fetal Urology (SFU) grading. Patients with postnatal APD exceeding 10 mm and/or SFU grade 3-4 should be screened for upper or lower urinary tract obstruction and vesicoureteric reflux (VUR). Infants with VUR should receive antibiotic prophylaxis through the first year of life, and their parents counseled regarding the risk of urinary tract infections. The management of patients with pelviureteric junction or vesicoureteric junction obstruction depends on clinical features and results of sequential ultrasonography and radionuclide renography. Surgery is considered in patients with increasing renal pelvic APD and/or an obstructed renogram with differential renal function <35-40% or its subsequent decline. Further studies are necessary to clarify the role of prenatal intervention, frequency of follow-up investigations and indications for surgery in these patients. PMID:23716913

Severity of hydronephrosis correlates with tumour invasiveness and urinary bladder recurrence of ureteric cancer.

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Luo, Hao Lun; Kang, Chih Hsiung; Chen, Yen Ta; Chuang, Yao Chi; Lee, Wei Ching; Cheng, Yuan Tso; Chiang, Po Hui

2013-08-01

To explore the prognostic role of hydronephrosis grade in patients with pure ureteric cancer. The study included 162 patients with pure ureteric cancer who were treated between January 2005 and December 2010 at a single tertiary referral centre. The association between hydronephrosis grade with pathological findings and oncological outcomes was assessed using multivariate Cox regression analysis. Hydronephrosis grade >2 was independently associated with non-organ-confined ureteric cancer (P = 0.003). Hydronephrosis grade Hydronephrosis grade >2 and bladder cancer history independently predict bladder cancer recurrence (P = 0.021 and P = 0.002, respectively) Hydronephrosis of grade >2 was found to be associated with local and distant recurrence only in univariate analysis; non-organ-confined pathology independently predicted local and distant oncological failure (P ≤ 0.001 and P = 0.002, respectively). Hydronephrosis grade >2 is associated with non-organ-confined ureteric cancer and with bladder cancer recurrence. Non-organ-confined pathology is still the most important predictor for local and distant oncological failure. © 2013 BJU International.

Renal ultrasound to detect hydronephrosis: A need for routine imaging after radical hysterectomy?

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Hazewinkel, Menke H.; Gietelink, Lieke; van der Velden, Jacobus; Burger, Matthé P. M.; Stoker, Jaap; Roovers, Jan-Paul W. R.

2012-01-01

Background. Hydronephrosis can be a side effect of radical hysterectomy for cervical cancer. The incidence of clinically relevant hydronephrosis has not been studied in a large sample and the benefit of early detection of hydronephrosis is not clear. Objective. To assess the incidence of

CT detection of hydronephrosis in resected colorectal cancer: a predictor of recurrent disease

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Brown, G.; Drury, A.E.; Cunningham, D.; Husband, J.E.S.

2003-01-01

AIM: To investigate the causes and significance of hydronephrosis in follow-up of colorectal cancer. METHODS AND MATERIALS: Case notes and serial computed tomography (CT) examinations were reviewed of 75 patients (250 CT examinations) after resection for colorectal cancer in whom hydronephrosis developed on follow-up. RESULTS: The most common cause of hydronephrosis was a focal plaque-like mass centred on the peritoneum, demonstrated in 37 cases (49%). Patients with R1 (microscopic residual tumour) or R2 (macroscopic residual tumour) disease developed hydronephrosis at a median time of 13 months (90% CI: 9-18 months) compared with 22 months (90% CI: 17-26 months) for those having (R0) curative resection. Patients with pT4 invasion of peritoneum or adjacent organs developed hydronephrosis at a median of 14 months (90% CI: 6-16 months) compared with a median of 22 months in patients with pT3 tumours (90% CI: 11-27 months). Of 26 patients without an obvious cause of hydronephrosis on initial CT examination, follow-up CT demonstrated a definite mass lesion in 50%. Median survival after the onset of hydronephrosis was 6 months (range 1-34 months) with a 1-year mortality of 62%. CONCLUSIONS: Hydronephrosis is an important early indicator of colorectal cancer recurrence, even in the absence of a mass. Brown, G. etal. (2003). Clinical Radiology58, 137-142

CT detection of hydronephrosis in resected colorectal cancer: a predictor of recurrent disease

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Brown, G.; Drury, A.E.; Cunningham, D.; Husband, J.E.S

2003-02-01

AIM: To investigate the causes and significance of hydronephrosis in follow-up of colorectal cancer. METHODS AND MATERIALS: Case notes and serial computed tomography (CT) examinations were reviewed of 75 patients (250 CT examinations) after resection for colorectal cancer in whom hydronephrosis developed on follow-up. RESULTS: The most common cause of hydronephrosis was a focal plaque-like mass centred on the peritoneum, demonstrated in 37 cases (49%). Patients with R1 (microscopic residual tumour) or R2 (macroscopic residual tumour) disease developed hydronephrosis at a median time of 13 months (90% CI: 9-18 months) compared with 22 months (90% CI: 17-26 months) for those having (R0) curative resection. Patients with pT4 invasion of peritoneum or adjacent organs developed hydronephrosis at a median of 14 months (90% CI: 6-16 months) compared with a median of 22 months in patients with pT3 tumours (90% CI: 11-27 months). Of 26 patients without an obvious cause of hydronephrosis on initial CT examination, follow-up CT demonstrated a definite mass lesion in 50%. Median survival after the onset of hydronephrosis was 6 months (range 1-34 months) with a 1-year mortality of 62%. CONCLUSIONS: Hydronephrosis is an important early indicator of colorectal cancer recurrence, even in the absence of a mass. Brown, G. etal. (2003). Clinical Radiology58, 137-142.

Ultrasonography of hydronephrosis and renal masses

International Nuclear Information System (INIS)

Lee, Kyung Weon; Kim, Chong Gun; Kim, Yeon Jin; Rhee, Byung Chull

1984-01-01

We have analyzed ultrasonographic findings of 55 cases of hydronephrosis and 34 cases of renal masses. The results are as follows: 1. 55 cases of hydronephrosis revealed renal enlargement in 55 cases, separation of central echo complex in 27 cases, multiple anechoic areas radiating from the center in 25 cases and dilated renal pelvis in 24 cases. 2. Among the masses in 34 cases, simple renal cyst were 15 cases, polycystic kidney in 8 cases, hypernephroma in 8 cases, Wilm's tumor in 2 cases and agiomyolipoma in 1 case. 3. Simple renal cyst revealed single in 14 cases (93%) and well defined anechoic mass with posterior enhancement in all cases. 4. Polycystic kidney revealed bilateral irregular shaped renal enlargement and multiple anechoic cysts throughout the kidney. 2 cases (25%) involved liver. 5. 6 cases (75%) of hypernephroma revealed ill defined moderately echogenic mass without posterior enhancement. 6. All cases of Wilm's tumor revealed well defined large mixed echogenic mass in right kidney. 7. Angiomyolipoma revealed bilateral dense echogenic mass with large hemorrhage cyst in right kidney. 8. The ultrasonography is useful noninvasive diagnostic modality of evaluation of renal masses and hydronephrosis.

Congenital tumors of the central nervous system

International Nuclear Information System (INIS)

Severino, Mariasavina; Schwartz, Erin S.; Thurnher, Majda M.; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

2010-01-01

Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease

Delayed hydronephrosis due to retroperitoneal hematoma after a seatbelt injury

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Yumoto, Tetsuya; Kondo, Yoshitaka; Kumon, Kento; Masaoka, Yoshihisa; Hiraki, Takao; Yamada, Taihei; Naito, Hiromichi; Nakao, Atsunori

2018-01-01

Abstract Rationale: Hydronephrosis caused by retroperitoneal hematoma after a seatbelt injury is a unique clinical entity. Patient concerns: A 21-year-old man, who had been wearing a seatbelt, was brought to our hospital after a motor vehicle collision, complaining of abdominal pain. Computed tomography (CT) revealed retroperitoneal hematoma in the upper pelvic region. Since he was hemodynamically stable throughout admission, he was managed conservatively. Seventeen days after initial discharge, the patient revisited our emergency department due to right back pain. Diagnoses: CT scans indicated retroperitoneal hematoma growth resulting in hydronephrosis of the right kidney. Interventions: Laparoscopic drainage of the retroperitoneal hematoma was successfully performed. Outcomes: His symptoms resolved after the surgery. Follow-up CT scans three months later demonstrated complete resolution of the hydronephrosis and retroperitoneal hematoma. Lessons: Our case highlights a patient with delayed hydronephrosis because of retroperitoneal hematoma expansion after a seatbelt injury. PMID:29879068

Prospective study of fetal hydronephrosis diagnosed by ultrasound- contribution to prevent renal damage in childhood

International Nuclear Information System (INIS)

Oliveira, Eduardo A.; Cabral, Antonio Carlos V.; Leite, Henrique V.; Filgueiras, Teresa F.; Oliveira, Raquel B.B.; Vilasboas, Aranai S.; Tiburcio, Arthur E.L.; Diniz, Jose Silveiro S.

1998-01-01

Newborns with anomalies of the urinary tract detected by fetal echography were investigated. The purpose was to identify prevalent uropathies, clinical outcome and variables of prognostic significance in patients with fetal hydronephrosis. The patients were investigated by ultrasound, micturating cystourethrography and radionuclide imaging, after beginning of chemoprophylaxis. Renal function and urinary tract infection were also studied. Eight-three patients were included in this study, 54(65,1%) of these were boys. Postnatal predominant diagnosis were pelviureteric junction obstruction (3,3%) and multicytic kidney (15,7%). Follow-up average was 35 ± 2.5 months. Renal function deteriored in 8 children during follow-up. Worse prognosis was associated with prenatal diagnosis before third trimester of gestation, bilateral uropathy, oligohydrammios, abnormal palpable kidney or bladder, abnormal renal function on admission and urethral obstruction. (author)

Hydronephrosis alters cardiac ACE2 and Mas receptor expression in mice.

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Zhang, Yanling; Ma, Lulu; Wu, Junyan; Chen, Tingting

2015-06-01

Hydronephrosis is characterized by substantial loss of tubules and affects renin secretion in the kidney. However, whether alterations of angiotensin-converting enzyme (ACE), ACE2 and Mas receptor in the heart are observed in hydronephrosis is unknown. Thus, we assessed these components in hydronephrotic mice treated with AT1 receptor blockade and ACE inhibitor. Hydronephrosis was induced by left ureteral ligation in Balb/C mice except sham-operated animals. The levels of cardiac ACE, ACE2 and Mas receptor were measured after treatment of losartan or enalapril. Hydronephrosis led to an increase of ACE level and a decrease of ACE2 and Mas receptor in the heart. Losartan decreased cardiac ACE level, but ACE2 and Mas receptor levels significantly increased in hydronephrotic mice (p Hydronephrosis increased cardiac ACE and suppressed ACE2 and Mas receptor levels. AT1 blockade caused sustained activation of cardiac ACE2 and Mas receptor, but ACE inhibitor had the limitation of such activation of Mas receptor in hydronephrotic animals. © The Author(s) 2015.

Serum and urinary thioredoxin concentrations are associated with severity of children hydronephrosis.

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Xu, Zhe-Ming; Li, Min-Ju; Tao, Chang

2017-03-01

Ureteropelvic junction obstruction (UPJO) is the most common cause of hydronephrosis in children. This study was to assess the relationship between serum thioredoxin (S-Trx) and urinary thioredoxin (U-Trx) concentrations and severity of children hydronephrosis caused by UPJO. This study included 156 hydronephrosis children with unilateral UPJO and 80 healthy children. S-Trx and U-Trx concentrations were measured using enzyme-linked immunosorbent assay. U-Trx/creatinine (cr) ratio was calculated. S-Trx and U-Trx concentrations and U-Trx/cr ratio were significantly higher in hydronephrosis children than in healthy children. They were significantly correlated with split renal function, anterior-posterior diameter and Society for Fetal Urology classification, as well as were independently related to the split renal function 30mm and Society for Fetal Urology grade IV. Under receiver operating characteristic curves, U-Trx/cr ratio showed the higher predictive value compared to S-Trx and U-Trx concentrations. Increased S-Trx and U-Trx concentrations, especially U-Trx/cr ratio, are closely associated with the severity of children hydronephrosis, substantializing Trx as a promising biomarker for the progression of children hydronephrosis. Copyright © 2017 Elsevier B.V. All rights reserved.

Congenital syphilis: literature review

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Eduardo Chaida Sonda

2013-01-01

Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

Ultrasound vs. Computed Tomography for Severity of Hydronephrosis and Its Importance in Renal Colic.

Science.gov (United States)

Leo, Megan M; Langlois, Breanne K; Pare, Joseph R; Mitchell, Patricia; Linden, Judith; Nelson, Kerrie P; Amanti, Cristopher; Carmody, Kristin A

2017-06-01

Supporting an "ultrasound-first" approach to evaluating renal colic in the emergency department (ED) remains important for improving patient care and decreasing healthcare costs. Our primary objective was to compare emergency physician (EP) ultrasound to computed tomography (CT) detection of hydronephrosis severity in patients with suspected renal colic. We calculated test characteristics of hydronephrosis on EP-performed ultrasound for detecting ureteral stones or ureteral stone size >5mm. We then analyzed the association of hydronephrosis on EP-performed ultrasound, stone size >5mm, and proximal stone location with 30-day events. This was a prospective observational study of ED patients with suspected renal colic undergoing CT. Subjects had an EP-performed ultrasound evaluating for the severity of hydronephrosis. A chart review and follow-up phone call was performed. We enrolled 302 subjects who had an EP-performed ultrasound. CT and EP ultrasound results were comparable in detecting severity of hydronephrosis ( x 2 =51.7, pHydronephrosis on EP-performed ultrasound was predictive of a ureteral stone on CT (PPV 88%; LR+ 2.91), but lack of hydronephrosis did not rule it out (NPV 65%). Lack of hydronephrosis on EP-performed ultrasound makes larger stone size >5mm less likely (NPV 89%; LR- 0.39). Larger stone size > 5mm was associated with 30-day events (OR 2.30, p=0.03). Using an ultrasound-first approach to detect hydronephrosis may help physicians identify patients with renal colic. The lack of hydronephrosis on ultrasound makes the presence of a larger ureteral stone less likely. Stone size >5mm may be a useful predictor of 30-day events.

Assessment of renal function with 99Tcm-DTPA renal dynamic imaging in neonatal hydronephrosis

International Nuclear Information System (INIS)

Jiang Lixin; Guo Zongyuan; Wu Rongde; Yu Qihai; Liu Zhanfeng

2004-01-01

Objective: To assess the renal function in neonatal hydronephrosis with 99 Tc m -DTPA renal imaging. Methods: Eighteen unilateral hydronephrotic kidneys and 12 normal kidneys were studied by 99 Tc m -DTPA renal dynamic imaging , and glomerular filtration rate (GFR) quantitative analysis was also performed. Blood urea nitrogen (BUN), serum creatinine (SCr) and hemoglobin (Hb) were determined simultaneously and the correlations between GFR and each of these parameters were analyzed. Results: Positive correlation was discovered between GFR and Hb in neonates with moderate or severe hydronephrosis (r=0.414, 0.667, P 0.05). The renal function was decreased significantly in moderate and severe neonatal hydronephrosis (P 99 Tc m -DTPA renal dynamic imaging GFR is an ideal marker for estimating renal function in neonatal hydronephrosis; SCr could be a marker for renal damage especially in moderate and severe neonatal hydronephrosis; BUN could not be a marker for evaluating renal function in neonatal hydronephrosis. Neonates with hydronephrosis should be referred for surgical procedures as soon as possible in the early stage

Diuretic ultrasound - noninvasive method for assessment of congenital hydronephrosis in children

International Nuclear Information System (INIS)

Bueva, A.; Gaidarova, M.; Zlatanova, G.

2012-01-01

Ureteropelvic junction obstruction is the most common congenital abnormality of the urinary tract. Its incidence is 5 cases per 100 000 population annually. Several functional methods are available: diuretic renography, diuretic ultrasound and diuretic urography. The aim of this study is to compare the sensitivity and the specificity of the diuretic ultrasound and renography in the evaluation of upper urinary tract obstruction. (authors)

Hydronephrosis and pregnancy: study with Doppler echography

International Nuclear Information System (INIS)

Ripolles Gonzalez, T.R.; Ambit Capdevilla, S.; Sanguesa Nebot, C.; Lazaro, S. de; Garcia Vila, J.H.; Belloch Ugarte, V.

1993-01-01

An 18-month study was performed to establish the normal intrarenal resistance index during pregnancy, in order to determine whether it differed significantly depending on the week of gestation or the degree of hydronephrosis. For this purpose , the flow velocity waves obtained in right kidney were analyzed in a group of 112 patients on the basis of 209 explorations. The kidneys were classified as grade 0,I,II, or III according to the degree of hydronephrosis. Doppler signal sampling was carried out at the level of the corticomedullary junction. From the results of the study it can be deduced that the index of intrarenal resistance during pregnancy is similar to that of the general population, that there are no significant differences among the groups with different degree of hydronephrosis and that the index does not vary according to the different weeks of gestation. These findings suggest that, during pregnancy, a pathological resistance index in a kidney should not be attributed to the physiological changes associated with normal gestation. (Author) 21 refs

BILATERAL HYDRONEPHROSIS IN A SUGAR GLIDER (PETAURUS BREVICEPS).

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Cusack, Lara; Schnellbacher, Rodney; Howerth, Elizabeth W; Jiménez, David A; Mayer, Joerg; Divers, Stephen

2016-09-01

An adult, intact male sugar glider ( Petaurus breviceps ) presented for acute caudal abdominal swelling. Treatment by the referring veterinarian included aspiration of urine from the swelling. On physical examination, mild depression, pale mucus membranes, and caudal abdominal swelling were noted. Focused ultrasonographic assessment revealed a fluid-filled caudal abdominal structure and subjective bladder wall thickening. The following day, the sugar glider was severely depressed. Hematology results included hypoglycemia, hyperkalemia, hyponatremia, and azotemia. Ultrasonography revealed bilateral hydronephrosis and hydroureter. Despite supportive care, the animal died. Postmortem examination confirmed bilateral ureteral dilation, renal petechial hemorrhage, and dilation of the right renal pelvis. Submucosal edema, hemorrhage, and lymphoplasmacytic infiltration of the urinary bladder, ureters, and renal pelvises were noted. Hyperplasia of the urinary bladder and ureteral epithelium, coupled with inflammation, may have caused functional obstruction leading to bilateral hydronephrosis and hydroureter. This is the first reported case of hydronephrosis in a marsupial.

Prenatal exposure to environmental factors and congenital limb defects.

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Alexander, Peter G; Clark, Karen L; Tuan, Rocky S

2016-09-01

Limb congenital defects afflict approximately 0.6:1000 live births. In addition to genetic factors, prenatal exposure to drugs and environmental toxicants, represents a major contributing factor to limb defects. Examples of well-recognized limb teratogenic agents include thalidomide, warfarin, valproic acid, misoprostol, and phenytoin. While the mechanism by which these agents cause dymorphogenesis is increasingly clear, prediction of the limb teratogenicity of many thousands of as yet uncharacterized environmental factors (pollutants) remains inexact. This is limited by the insufficiencies of currently available models. Specifically, in vivo approaches using guideline animal models have inherently deficient predictive power due to genomic and anatomic differences that complicate mechanistic comparisons. On the other hand, in vitro two-dimensional (2D) cell cultures, while accessible for cellular and molecular experimentation, do not reflect the three-dimensional (3D) morphogenetic events in vivo nor systemic influences. More robust and accessible models based on human cells that accurately replicate specific processes of embryonic limb development are needed to enhance limb teratogenesis prediction and to permit mechanistic analysis of the adverse outcome pathways. Recent advances in elucidating mechanisms of normal development will aid in the development of process-specific 3D cell cultures within specialized bioreactors to support multicellular microtissues or organoid constructs that will lead to increased understanding of cell functions, cell-to-cell signaling, pathway networks, and mechanisms of toxicity. The promise is prompting researchers to look to such 3D microphysiological systems to help sort out complex and often subtle interactions relevant to developmental malformations that would not be evident by standard 2D cell culture testing. Birth Defects Research (Part C) 108:243-273, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Sonocubic fine: new three-dimensional ultrasound software to the screening of congenital heart diseases

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Edward Araujo Júnior

2014-09-01

Full Text Available Congenital heart disease is the most common fetal congenital malformations; however, the prenatal rate detection still is low. The two-dimensional echocardiography is the "gold standard" exam to screening and diagnosis of congenital heart disease during the prenatal; however, this exam is operator-depending and it is realized only in high risk pregnancies. Spatio-temporal image correlation is a three-dimensional ultrasound software that analyses the fetal heart and your connections in the multiplanar and rendering modes; however, spatio-temporal image correlation too is operator-depending and time-consuming. We presenting a new three-dimensional software named Sonocubic fine to the screening of congenital heart disease. This software applies intelligent navigation technology to spatio-temporal image correlation volume datasets to automatically generate nine fetal echocardiography standard views. Thus, this new software tends to be less operator-depending and time-consuming.

Congenital tumors of the central nervous system

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Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

2010-06-15

Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors

Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis.

Science.gov (United States)

Davisson, Muriel T; Cook, Susan A; Akeson, Ellen C; Liu, Don; Heffner, Caleb; Gudis, Polyxeni; Fairfield, Heather; Murray, Stephen A

2015-06-15

Many genes, including odd-skipped related 1 (Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia, and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chromosome 12 breakpoint is upstream from Osr1. The kavh/kavh mutant provides a model to study kidney development and test therapies for hydronephrosis. Copyright © 2015 the American Physiological Society.

Epidemiology of Congenital Anomalies in a Population-based Birth Registry in Taiwan, 2002

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Bing-Yu Chen

2009-06-01

Conclusion: The occurrence rates for individual congenital anomalies in Taiwan were reported. Older maternal age was a risk factor for the occurrence of chromosomal and orofacial anomalies. More active prenatal screening and further investigation of causal factors of congenital anomalies are of major importance.

Prevention of congenital defects induced by prenatal alcohol exposure (Conference Presentation)

Science.gov (United States)

Sheehan, Megan M.; Karunamuni, Ganga; Pedersen, Cameron J.; Gu, Shi; Doughman, Yong Qiu; Jenkins, Michael W.; Watanabe, Michiko; Rollins, Andrew M.

2017-02-01

Nearly 2 million women in the United States alone are at risk for an alcohol-exposed pregnancy, including more than 600,000 who binge drink. Even low levels of prenatal alcohol exposure (PAE) can lead to a variety of birth defects, including craniofacial and neurodevelopmental defects, as well as increased risk of miscarriages and stillbirths. Studies have also shown an interaction between drinking while pregnant and an increase in congenital heart defects (CHD), including atrioventricular septal defects and other malformations. We have previously established a quail model of PAE, modeling a single binge drinking episode in the third week of a woman's pregnancy. Using optical coherence tomography (OCT), we quantified intraventricular septum thickness, great vessel diameters, and atrioventricular valve volumes. Early-stage ethanol-exposed embryos had smaller cardiac cushions (valve precursors) and increased retrograde flow, while late-stage embryos presented with gross head/body defects, and exhibited smaller atrio-ventricular (AV) valves, interventricular septum, and aortic vessels. We previously showed that supplementation with the methyl donor betaine reduced gross defects, improved survival rates, and prevented cardiac defects. Here we show that these preventative effects are also observed with folate (another methyl donor) supplementation. Folate also appears to normalize retrograde flow levels which are elevated by ethanol exposure. Finally, preliminary findings have shown that glutathione, a crucial antioxidant, is noticeably effective at improving survival rates and minimizing gross defects in ethanol-exposed embryos. Current investigations will examine the impact of glutathione supplementation on PAE-related CHDs.

Does the presence of hydronephrosis have effects on micropercutaneous nephrolithotomy?

Science.gov (United States)

Karatag, Tuna; Buldu, Ibrahim; Kaynar, Mehmet; Inan, Ramazan; Istanbulluoglu, Mustafa Okan

2015-03-01

To evaluate the effects of presence of hydronephrosis on micropercutaneous nephrolithotomy (micro-PNL) surgery. A retrospective analysis of 112 patients who underwent microperc surgery between December 2012 and April 2014 was performed. Patients were evaluated in two groups according to whether the presence of hydronephrosis. Stone size and location, fluoroscopy and operation time, stone-free rates and patient-related parameters were prospectively recorded into a centralized computer-generated system. A total of 58 patients in Group 1 with hydronephrosis and 54 patients in Group 2 with no hydronephrosis were analyzed. There was no statistically significant difference in terms of stone sizes and body mass indexes (BMI) in comparison of groups (155.2 ± 93.06 vs. 143.70 ± 70.77 mm(2), p = 0.856 and 27.6 ± 4.2 vs. 26.7 ± 3.2 kg/m(2), p = 0.625). The success rates were similar (91.3 vs. 92.5%, p = 0.341). While the mean operation time and fluoroscopy time in Group 1 were 44.2 ± 23.62 min and 105.3 ± 47 s, it was 38.8 ± 26.4 min and 112.53 ± 68.3 s in Group 2, but there was no statistical difference in comparison of both groups. The mean attempts of percutan puncture were 1.35 ± 0.47 in Group 1 and 1.76 ± 0.31 in Group 2 (p = 0.185). We also found no statistical differences regarding mean hemoglobin change and hospitalization time, respectively (p = 0.685 and p = 0753). In comparison of grades of hydronephrosis, there was no statistically significant difference in subgroups analysis. The presence of hydronephrosis does not affect success rates and operative time in micro-PNL procedures significantly. Micropercutaneous nephrolithotomy is technically feasible and efficacious both in hydronephrotic and non-hydronephrotic kidneys.

Decrease of perinatal mortality associated with congenital anomalies after prenatal screening was introduced in the Netherlands

DEFF Research Database (Denmark)

Faber, H. H.; Bouman, K.; Walle, H. E. K.

2015-01-01

OBJECTIVES: There has been much discussion about the relatively high perinatal mortality seen in the Netherlands (Buitendijk 2004, Europeristat 2009), for which congenital anomalies (CA) are known to be one of the four main risk factors. There was no nationwide routine prenatal screening for CA...... in the Netherlands until 2007. We have analysed data for a 14-year period from the EUROCAT registries to investigate the effect of the introduction of screening for CA on the perinatal mortality rate in the Netherlands and compared the results with those from other European registries. METHODS: We used data from...... of 1.35 per 1000 births in the period 1998-2006 to 1.15 per 1000 births in the period 2007-2011. In the northern Netherlands, it dropped from 1.73 per 1000 births in the period 1998-2006 to 1.00 per 1000 births in the period 2007- 2011. In 2011, the perinatal mortality associated with CA...

131I-orthoiodohippurate renogram exploring the relationship among the radionuclide renography, hydronephrosis and renal function

International Nuclear Information System (INIS)

Zha Jinshun; Su Yingrui; Jiang Yan

2009-01-01

Objective: To investigate the 131 I-orthoiodohippurate renography with hydronephrosis and renal function, in order to further clarify the clinical diagnosis and treatment of hydronephrosis and provide a reliable basis. Methods: Retrospective analysis the results of 131 I-orthoiodohippurate renography in 120 patients whose urology inpatients. In accordance with the side of hydronephrosis, bilateral hydronephrosis and light, moderate and severe packet. The features of renography and the changes of functional parameter values in each group was analysised. And compared with the results of clinical evaluation about renal function and blood urea nitrogen (BUN), creatinine (Cr) levels. SPSS.16 statistical software was used for statistical analysis. Results: The incidence of abnormal renal function in varying degrees of hydronephrosis were significantly higher than those without hydronephrosis (98.9% vs. 39.3%, χ 2 =87.492, P 2 =13.848, P 131 I-orthoiodohippurate renography there is a higher sensitivity on the assessment of hydronephrosis and renal function, but lack of specificity. The analysis should be combination with clinical situation. (authors)

Radiation-induced hydronephrosis in the rat: a new experimental model

International Nuclear Information System (INIS)

Knowles, J.F.

1985-01-01

An experimental model for investigating the effects of localized X-irradiation on a single ureter or the bladder trigone in rats is described. Obstruction of the urinary tract in the irradiated region gives rise to hydroureter and hydronephrosis and the development of these, as detected urographically, gives a clear-cut end point. After irradiation of the ureter with a single dose of 37.4 gy many rats died of gut lesions but after 23.4 Gy only one such death occurred while 14 of 16 rats developed hydronephrosis. Irradiation of the bladder trigone was not associated with intercurrent deaths, even after 40 Gy, and after 25 Gy 9 of 11 rats developed hydronephrosis. (author)

Prenatal diagnosis of fetal hemivertebra at 20 weeks’ gestation with literature review

Directory of Open Access Journals (Sweden)

Michail Varras

2010-07-01

Full Text Available Michail Varras1, Christodoulos Akrivis21Obstetrics and Gynecology Department, “Elena Venizelou” General Maternity Hospital, Athens; 2Obstetrics and Gynecology Department, “G Chatzikosta” General State Hospital, Ioannina, GreeceAbstract: Hemivertebra is a rare congenital spinal malformation, where only one side of the vertebral body develops, resulting in deformation of the spine, such as scoliosis, lordosis, or kyphosis. We present the ultrasonographic features of a fetus with hemivertebra at 20 weeks’ gestation confirmed by post mortem radiography and pathological examination. The prenatal literature on this disorder is also reviewed. Useful background information is provided for both clinicians and other health professionals who are not familiar with this condition.Keywords: hemivertebra, congenital scoliosis, prenatal diagnosis, ultrasonography

Congenital anomalies in infants conceived by assisted reproductive techniques.

Science.gov (United States)

Mozafari Kermani, Ramin; Nedaeifard, Leila; Nateghi, Mohammad Reza; Shahzadeh Fazeli, Abolhassan; Ahmadi, Ebrahim; Osia, Mohammad Ali; Jafarzadehpour, Ebrahim; Nouri, Soudabeh

2012-04-01

Many studies show that congenital defects in infants conceived by assisted reproductive techniques (ART) are more than infants of normal conception (NC). The aim of this study is to determine the frequency of congenital anomalies in ART infants from Royan Institute and to compare congenital anomalies between two ART techniques.  In a cross-sectional descriptive study, 400 ART infants from Royan Institute who resided in Tehran were selected by non-random, consecutive sampling. Infants were examined twice (until 9 months of age) by a pediatrician. Infants' congenital anomalies were described by each body system or organ and type of ART. Data were analyzed by SPSS version 16 and Fisher's exact test. The frequency of different organ involvement in the two examinations were: 40 (10%) skin, 25 (6.2%) urogenital system, 21 (5.2%) gastrointestinal tract, 13 (3.2%) visual, and 8 (2%) cardiovascular system. Major congenital defects in infants conceived by in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) were hypospadiasis, inguinal hernia, patent ductus arteriosus plus ventricular septal defect (PDA + VSD), developmental dysplasia of the hip, lacrimal duct stenosis during the first year of life, hydronephrosis and urinary reflux over grade III, undescending testis, ureteropelvic junction stenosis, and torticoli. Two-thirds of ART infants had no defects. A total of 7% of IVF and ICSI infants had one of the major abovementioned congenital anomalies. This rate was higher than NC infants (2%-3%). There was no difference between the ICSI and IVF group.

HYDRONEPHROSIS IN THE GOAT DUE TO NEOPLASIA. A CASE REPORT.

Science.gov (United States)

The clinical history, gross and microscopic necropsy findings are presented in a case of hydronephrosis in a goat due to a primary neoplasm of the...urinary tract. The neoplasm, a transitional cell adenocarcinoma, had interfered with urine flow to a degree that hydronephrosis and subsequent uremia resulted. Metastases were found in the regional lymph nodes and lungs. (Author)

Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation

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Ho, Mai-Lan [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Glenn, Orit A. [University of California, Department of Radiology, San Francisco, CA (United States); Sherr, Eliott H. [University of California, Department of Neurology, San Francisco, CA (United States); University of California, Department of Pediatrics, San Francisco, CA (United States); Strober, Jonathan B. [University of California, Department of Neurology, San Francisco, CA (United States)

2017-06-15

The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy. (orig.)

Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation

International Nuclear Information System (INIS)

Ho, Mai-Lan; Glenn, Orit A.; Sherr, Eliott H.; Strober, Jonathan B.

2017-01-01

The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy. (orig.)

Concurrent Preoperative Presence of Hydronephrosis and Flank Pain Independently Predicts Worse Outcome of Upper Tract Urothelial Carcinoma.

Science.gov (United States)

Yeh, Hsin-Chih; Jan, Hau-Chern; Wu, Wen-Jeng; Li, Ching-Chia; Li, Wei-Ming; Ke, Hung-Lung; Huang, Shu-Pin; Liu, Chia-Chu; Lee, Yung-Chin; Yang, Sheau-Fang; Liang, Peir-In; Huang, Chun-Nung

2015-01-01

To investigate the impact of preoperative hydronephrosis and flank pain on prognosis of patients with upper tract urothelial carcinoma. In total, 472 patients with upper tract urothelial carcinoma managed by radical nephroureterectomy were included from Kaohsiung Medical University Hospital Healthcare System. Clinicopathological data were collected retrospectively for analysis. The significance of hydronephrosis, especially when combined with flank pain, and other relevant factors on overall and cancer-specific survival were evaluated. Of the 472 patients, 292 (62%) had preoperative hydronephrosis and 121 (26%) presented with flank pain. Preoperative hydronephrosis was significantly associated with age, hematuria, flank pain, tumor location, and pathological tumor stage. Concurrent presence of hydronephrosis and flank pain was a significant predictor of non-organ-confined disease (multivariate-adjusted hazard ratio = 2.10, P = 0.025). Kaplan-Meier analysis showed significantly poorer overall and cancer-specific survival in patients with preoperative hydronephrosis (P = 0.005 and P = 0.026, respectively) and in patients with flank pain (P hydronephrosis and flank pain independently predicted adverse outcome (hazard ratio = 1.98, P = 0.016 for overall survival and hazard ratio = 1.87, P = 0.036 for and cancer-specific survival, respectively) in multivariate Cox proportional hazards models. In addition, concurrent presence of hydronephrosis and flank pain was also significantly predictive of worse survival in patient with high grade or muscle-invasive disease. Notably, there was no difference in survival between patients with hydronephrosis but devoid of flank pain and those without hydronephrosis. Concurrent preoperative presence of hydronephrosis and flank pain predicted non-organ-confined status of upper tract urothelial carcinoma. When accompanied with flank pain, hydronephrosis represented an independent predictor for worse outcome in patients with upper tract

Does maternal hydronephrosis have an impact on urinary neutrophil gelatinase-associated lipocalin (uNGAL) levels?

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Pabuccu, Emre G; Caglar, Gamze Sinem; Kiseli, Mine; Yarci Gursoy, Asli; Candar, Tuba; Tangal, Semih; Ergun, İhsan

2017-03-01

To determine urinary neutrophil gelatinase-associated lipocalin (uNGAL) levels and creatinine clearance values in women with different degrees of asymptomatic hydronephrosis during pregnancy. A total of 44 pregnant women with different degrees of hydronephrosis and 46 without hydronephrosis were consecutively enrolled in this prospective study. Basic serum and urine parameters, uNGAL levels, and creatinine clearance values were evaluated. All results were compared between the two groups. Regression analysis was used to determine independent predictors, which were mostly related to hydronephrosis. Demographic data, basal laboratory parameters, and creatinine clearance values were similar, whereas significantly higher uNGAL levels were detected in women with hydronephrosis compared to those without hydronephrosis (45.3 versus 33.2 ng/mL, respectively) (p = 0.004). An increasing trend in uNGAL levels was detected with increasing degrees of hydronephrosis; as it was not statistically significant (p = 0.163). Linear regression analysis revealed that the parameter of "pelvic diameter" was found as a significant independent factor influencing uNGAL concentrations (β = 0.289; 95% CI: 0.522-3.061; p = 0.006). Other independent variables were not found to influence uNGAL concentrations (p > 0.05). The results obtained from this study indicate a significant increase of urinary concentration of NGAL in the presence of asymptomatic maternal hydronephrosis. This impact is likely to be more profound in those with severe hydronephrosis although this has not been specifically investigated. This theory needs to be validated in larger populations.

Ebstein's anomaly with imperforate tricuspid valve. Prenatal diagnosis

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Zielinsky Paulo

2000-01-01

Full Text Available Ebstein's anomaly is an uncommon congenital heart defect, with a prevalence of 0.3-0.5%. Its association with an imperforate tricuspid valve is an even more rare situation (less than 10% of cases. Prenatal diagnosis of this association by means of fetal echocardiography has not been reported. We describe here this association diagnosed before birth and confirmed after birth. The diagnostic potential and importance of fetal echocardiography during prenatal evaluation of cardiac malformations allows for adequate perinatal planning and management, with an obvious impact on morbidity and mortality.

Computerized tomography attenuation values can be used to differentiate hydronephrosis from pyonephrosis.

Science.gov (United States)

Yuruk, Emrah; Tuken, Murat; Sulejman, Suhejb; Colakerol, Aykut; Serefoglu, Ege Can; Sarica, Kemal; Muslumanoglu, Ahmet Yaser

2017-03-01

To determine the diagnostic value of computerized tomography (CT) in differentiating pyonephrosis from hydronephrosis on the basis of attenuation values (Hounsfield unit-HU). Data of the patients with grades 1-3 hydronephrosis on abdominopelvic CT, who underwent nephrostomy tube placement for decompression of the collecting system, were retrospectively analyzed. Patient demographics and CT findings were recorded along with the first access urine culture results. Three physicians calculated the surface areas and the attenuation values of the dilated collecting systems using the system software. Mean HU of pyonephrosis and hydronephrosis cases was compared. A total of 105 patients with the mean age of 47.7 ± 15.5 (range 20-80) were included. The interclass correlation coefficient of three physicians was 0.981 for HU measurement and 0.999 for calculation of collecting system surface area. Of the patients, 47 (44.8 %) had pyonephrosis. Mean surface areas of the collecting system were similar in patients with pyonephrosis and hydronephrosis (1481.13 ± 1562.94 vs. 1612.94 ± 2261.4 mm 2 , p = 0.735). Urine cultures were positive in all patients with pyonephrosis, whereas 12.7 % of hydronephrosis cases had bacterial in first access urine culture. The HU of the patients with pyonephrosis was significantly higher that that of patients with hydronephrosis (13.51 ± 13.29 vs. 4.67 ± 5.37, p = 0.0001). Having a HU of 9.21 or over diagnosed pyonephrosis accurately with 65.96 % sensitivity and 87.93 % specificity. Measuring attenuation values of the collecting system may be useful to differentiate pyonephrosis from hydronephrosis. Diagnosing pyonephrosis accurately may avoid septic complications.

From diagnosis to birth: parents' experience when expecting a child with congenital anomaly.

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Askelsdóttir, Björk; Conroy, Sherrill; Rempel, Gwen

2008-12-01

Of 350,000 Canadian children born each year, 2% to 3% will have a serious congenital anomaly. Because of recent ultrasound diagnostic improvements and increased frequency of prenatal scans, many anomalies are determined prenatally, with more parents receiving disturbing, unanticipated news of an anomaly. This article highlights the experiences, concerns, and healthcare needs of parents who receive a prenatal diagnosis of congenital anomaly during routine ultrasound and choose to continue with the pregnancy. Examples from parent interviews describing their experience complement the sparse literature dealing with this phenomenon. Parents describe their experience from antenatal diagnosis and preparation for the child's birth and subsequent admission to the neonatal intensive care unit. Attention is paid to how neonatal nurses can positively influence this process by attending to parents' feelings or moods. The conclusion includes recommendations for neonatal nursing care for these vulnerable parents.

Hormonal Treatment for Severe Hydronephrosis Caused by Bladder Endometriosis

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Erkan Efe

2014-01-01

Full Text Available The incidence of endometriosis cases involving the urinary system has recently increased, and the bladder is a specific zone where endometriosis is most commonly seen in the urinary system. In the case presented here, a patient presented to the emergency department with the complaint of side pain and was examined and diagnosed with severe hydronephrosis and bladder endometriosis was determined in the etiology. After the patient was pathologically diagnosed, Levonorgestrel-Releasing Intrauterine System (LNG-IUS was administered to the uterine cavity. At the 12-month follow-up, endometriosis was not observed in the cystoscopy and symptoms had completely regressed. Hydronephrosis may be observed after exposure of the ureter, and silent renal function loss may develop in patients suffering from endometriosis with bladder involvement. For patients with moderate or severe hydronephrosis associated with bladder endometriosis, LNG-IUS application may be separately and successfully used after conservative surgery.

Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe

NARCIS (Netherlands)

Boyd, PA; Wellesley, DG; De Walle, HEK; Tenconi, R; Garcia-Minaur, S; Zandwijken, GRJ; Stoll, C; Clementi, M

2000-01-01

Objective-Evaluation of prenatal diagnosis of neural tube defects by ultrasound examination in unselected populations across Europe. Setting-Prenatal ultrasound units in areas that report to contributing congenital malformation registers. Methods-All cases with a suspected or confirmed neural tube

Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

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Lutgardo García-Díaz

2013-01-01

Full Text Available A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.

Correction of differential renal function for asymmetric renal area ratio in unilateral hydronephrosis.

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Aktaş, Gul Ege; Sarıkaya, Ali

2015-11-01

Children with unilateral hydronephrosis are followed up with anteroposterior pelvic diameter (APD), hydronephrosis grade, mercaptoacetyltriglycine (MAG-3) drainage pattern and differential renal function (DRF). Indeterminate drainage preserved DRF in higher grades of hydronephrosis, in some situations, complicating the decision-making process. Due to an asymmetric renal area ratio, falsely negative DRF estimations can result in missed optimal surgery times. This study was designed to assess whether correcting the DRF estimation according to kidney area could reflect the clinical situation of a hydronephrotic kidney better than a classical DRF calculation, concurrently with the hydronephrosis grade, APD and MAG-3 drainage pattern. We reviewed the MAG-3, dimercaptosuccinic acid (DMSA) scans and ultrasonography (US) of 23 children (6 girls, 17 boys, mean age: 29 ± 50 months) with unilateral hydronephrosis. MAG-3 and DMSA scans were performed within 3 months (mean 25.4 ± 30.7 days). The closest US findings (mean 41.5 ± 28.2 days) were used. DMSA DRF estimations were obtained using the geometric mean method. Secondary calculations were performed to correct the counts (the total counts divided by the number of pixels in ROI) according to kidney area. The renogram patterns of patients were evaluated and separated into subgroups. The visual assessment of DMSA scans was noted and the hydronephrotic kidney was classified in comparison to the normal contralateral kidney's uptake. The correlations of the DRF values of classical and area-corrected methods with MAG-3 renogram patterns, the visual classification of DMSA scan, the hydronephrosis grade and the APD were assessed. DRF estimations of two methods were statistically different (p: 0.001). The categories of 12 hydronephrotic kidneys were changed. There were no correlations between classical DRF estimations and the hydronephrosis grade, APD, visual classification of the DMSA scan and uptake evaluation. The DRF

Molecular Pathology of Murine Ureteritis Causing Obstructive Uropathy with Hydronephrosis

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Ichii, Osamu; Otsuka, Saori; Namiki, Yuka; Hashimoto, Yoshiharu; Kon, Yasuhiro

2011-01-01

Primary causes of urinary tract obstruction that induces urine retention and results in hydronephrosis include uroliths, inflammation, and tumors. In this study, we analyzed the molecular pathology of ureteritis causing hydronephrosis in laboratory rodents. F2 progenies of C57BL/6 and DBA/2 mice were studied histopathologically and by comprehensive gene expression analysis of their ureters. Incidence of hydronephrosis was approximately 5% in F2 progenies. Histopathologically, this hydronephrosis was caused by stenosis of the proximal ureter, which showed fibrosis and papillary malformations of the proliferative epithelium with infiltrations of B-cell-dominated lymphocytes. Additionally, CD16-positive large granular leukocytes and eosinophils infiltrated from the ureteral mucosa to the muscular layer. Eosinophilic crystals were characteristically observed in the lumen of the ureter and the cytoplasm of large granular leukocytes, eosinophils, and transitional epithelial cells. Comprehensive gene profiling revealed remarkably elevated expression of genes associated with hyperimmune responses through activation of B cells in diseased ureters. Furthermore, diseased ureters showed dramatically higher gene expression of chitinase 3-like 3, known as Ym1, which is associated with formation both of adenomas in the transitional epithelium and of eosinophilic crystals in inflammatory conditions. The Ym1 protein was mainly localized to the cytoplasm of the transitional epithelium, infiltrated cells, and eosinophilic crystals in diseased ureters. We determined that the primary cause of hydronephrosis in F2 mice was ureteritis mediated by the local hyperimmune response with malformation of the transitional epithelium. Our data provide a novel molecular pathogenesis for elucidating causes of aseptic inflammation in human upper urinary tracts. PMID:22114694

Prenatal diagnosis of arachnoid cyst

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Korkut Daglar

2016-12-01

Full Text Available Arachnoid cysts are rare, usually benign, space-occupying central nervous system lesion. They are the results of an accumulation of cerebrospinal-like fluid between the cerebral meninges and diagnosed prenatally as a unilocular, simple, echolucent area within the fetal head. They may be primary (congenital (maldevelopment of the meninges or secondary (acquired (result of infection trauma, or hemorrhage. The primary ones typically dont communicate with the subarachnoid space whereas acquired forms usually communicate. In recent years, with the development of radiological techniques, the clinical detectability of arachnoid cysts seems to have increased. We report a case of primary arachnoid cyst that were diagnosed prenatally by using ultrasonography and magnetic resonance imaging . [Cukurova Med J 2016; 41(4.000: 792-795

Betaine supplementation reduces congenital defects after prenatal alcohol exposure (Conference Presentation)

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Karunamuni, Ganga; Gu, Shi; Doughman, Yong Qiu; Sheehan, Megan M.; Ma, Pei; Peterson, Lindsy M.; Linask, Kersti K.; Jenkins, Michael W.; Rollins, Andrew M.; Watanabe, Michiko

2016-03-01

Over 500,000 women per year in the United States drink during pregnancy, and 1 in 5 of this population also binge drink. As high as 20-50% of live-born children with prenatal alcohol exposure (PAE) present with congenital heart defects including outflow and valvuloseptal anomalies that can be life-threatening. Previously we established a model of PAE (modeling a single binge drinking episode) in the avian embryo and used optical coherence tomography (OCT) imaging to assay early-stage cardiac function/structure and late-stage cardiac defects. At early stages, alcohol/ethanol-exposed embryos had smaller cardiac cushions and increased retrograde flow. At late stages, they presented with gross morphological defects in the head and chest wall, and also exhibited smaller or abnormal atrio-ventricular (AV) valves, thinner interventricular septae (IVS), and smaller vessel diameters for the aortic trunk branches. In other animal models, the methyl donor betaine (found naturally in many foods such as wheat bran, quinoa, beets and spinach) ameliorates neurobehavioral deficits associated with PAE but the effects on heart structure are unknown. In our model of PAE, betaine supplementation led to a reduction in gross structural defects and appeared to protect against certain types of cardiac defects such as ventricular septal defects and abnormal AV valvular morphology. Furthermore, vessel diameters, IVS thicknesses and mural AV leaflet volumes were normalized while the septal AV leaflet volume was increased. These findings highlight the importance of betaine and potentially methylation levels in the prevention of PAE-related birth defects which could have significant implications for public health.

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

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Javier Sánchez

2012-01-01

Full Text Available Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14, and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

Clinical evaluation of diuretic renography in infants and children with congenital urinary abnormality

International Nuclear Information System (INIS)

Li Jingsong; Li Jianing; Fu Hongliang; Zou Renjian; Wu Jingchuan

2006-01-01

Objective: The clinical application of furosemide plus 15-minute diuretic renography (F+15 DR) was evaluated in infants and children with congenital urinary abnormalities. Methods: In 163 patients with different congenital urinary abnormalities undergoing F+15 DR, 97 were operated and followed by F+15 DR reexamination. The DR imaging characteristics were analyzed and, based on those analyses, hydronephrosis was classified into five degrees. Follow-up data were analyzed both quantitatively and qualitatively. Results: Each renal abnormality (kidney duplication 60, horseshoe kidney 6, multiple cysts of kidney 5, hypoplasia 35, ureterocele 20, displacement of ureter opening 13, megaloureter 20, valve of ureter 26) exhibited its unique characteristics on DR imaging. Renal functions of those patients were improved dur- ing the follow-up after surgical operations. Patients with duplex kidney and ureter abnormalities had better prognosis than those with urethral valve. Conclusion: F + 15 DR imaging may reveal characteristic changes of congenital urinary abnormalities and helps in the qualitative or quantitative evaluation of the treatments. (authors)

Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios

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Chih-Ping Chen

2013-12-01

Conclusion: Prenatal diagnosis of cloacal malformation with ambiguous genitalia should be paid attention to avoid misdiagnosis of a male with an imperforate anus and a perineal fistula. Cytogenetic analysis is helpful to determine the sex under such circumstances.

Ultrasound vs. Computed Tomography for Severity of Hydronephrosis and Its Importance in Renal Colic

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Megan M. Leo

2017-05-01

Full Text Available Introduction: Supporting an “ultrasound-first” approach to evaluating renal colic in the emergency department (ED remains important for improving patient care and decreasing healthcare costs. Our primary objective was to compare emergency physician (EP ultrasound to computed tomography (CT detection of hydronephrosis severity in patients with suspected renal colic. We calculated test characteristics of hydronephrosis on EP-performed ultrasound for detecting ureteral stones or ureteral stone size >5mm. We then analyzed the association of hydronephrosis on EP-performed ultrasound, stone size >5mm, and proximal stone location with 30-day events. Methods: This was a prospective observational study of ED patients with suspected renal colic undergoing CT. Subjects had an EP-performed ultrasound evaluating for the severity of hydronephrosis. A chart review and follow-up phone call was performed. Results: We enrolled 302 subjects who had an EP-performed ultrasound. CT and EP ultrasound results were comparable in detecting severity of hydronephrosis ( x 2=51.7, p5mm less likely (NPV 89%; LR− 0.39. Larger stone size > 5mm was associated with 30-day events (OR 2.30, p=0.03. Conclusion: Using an ultrasound-first approach to detect hydronephrosis may help physicians identify patients with renal colic. The lack of hydronephrosis on ultrasound makes the presence of a larger ureteral stone less likely. Stone size >5mm may be a useful predictor of 30-day events.

Prenatal diagnosis of fetal omphalocele by ultrasound: A comparison of two centuries

OpenAIRE

Yu-Ling Liang; Lin Kang; Pei-Ying Tsai; Yueh-Chin Cheng; Huei-Chen Ko; Chiung-Hsin Chang; Fong-Ming Chang

2013-01-01

An omphalocele, a fetal abdominal defect, is a very important congenital anomaly. Prenatal diagnosis of fetal omphalocele is crucial to clinical management. Objective: To investigate the accuracy of prenatal diagnosis for fetal omphalocele, we undertook a retrospective and consecutive analysis of our ultrasound database between January 1994 and December 2011. Materials and Methods: In total, ultrasound (US) detected 52 fetuses with an omphalocele in utero. Results: The incidence of f...

Transitional neonatal hydronephrosis: fact or fantasy

International Nuclear Information System (INIS)

Homsy, Y.L.; Williot, P.; Danais, S.

1986-01-01

Hydronephrosis secondary to an anomalous ureteropelvic junction was detected antenatally in more than 60 neonatal renal units Those 21 units that exhibited partial obstruction or dilatation without obstruction were selected for this study. They were assessed and followed by serial diuretic isotope renography (99mtechnetium-diethylenetriaminepentaacetic acid augmented with furosemide) and ultrasonography. Excretory urography was used selectively. Of the 17 renal units that could be assessed 88 per cent demonstrated labile ureteropelvic junctions. Indeed, in 3 to 6 months, when the definitive status seemed to be attained, 41 per cent (7 units) had deteriorated, 12 per cent (2 units) remained stable and 47 per cent (8 units) underwent spontaneous improvement. We recommend a 3 to 6-month observation period for patients with hydronephrosis secondary to ureteropelvic junction anomalies when definite obstruction cannot be confirmed by isotope renography

Diagnosis of fetal congenital limb deformities by MRI

International Nuclear Information System (INIS)

Dong Suzhen; Zhu Ming; Zhong Yumin; Zhang Hong; Mao Jianping

2008-01-01

Objective: To explore the diagnostic value of MRI on fetal congenital limb deformities. Methods: Sixteen pregnant women, aged from 22 to 40 years (average 29 years) and with gestation from 22 to 39 weeks (average 29 weeks) were studied with a 1.5 T superconductive MR unit within 24 to 48 hours after ultrasound studies. Acquisitions consisted of coronal, sagittal, and axial slices relative to the fetal brain, spine, thorax, abdomen, especially limbs using 2D FIESTA sequences. Prenatal US and MR imaging findings were compared with postnatal diagnoses (4 fetuses) or autopsy (12 pregnant women, 13 fetuses). Postnatal evaluation included US, MR imaging, computed tomography, and physical examination. Results: Of the sixteen pregnant women (15 with a single fetus and 1 with twin fetuses), 17 fetuses were found. Those limb deformities of sixteen pregnant women included congenital both upper extremities amelia (1 case), sirenomelia sequence (1 case), micromelia (5 cases, 1 of which were twins), bilateral clenched hands (2 cases), right polydactyly (1 case), simple right ectrodactyly (1 case), right dactylolysis(1 case), simple club foot (2 cases), hydrocele spinalis with club foot (2 cases), 1 of the 2 cases with bilateral clinodactyly. In 14 of 16 cases, the diagnoses established by MR imaging were correct when compared with postnatal diagnosis, and prenatal MR diagnosis was inaccurate in 2 cases. Conclusion: Prenatal MRI is effective in the assessment of congenital limb deformities of fetuses, it can yield information additional to that obtained with US, and further correct US diagnosis. (authors)

A Giant Hydronephrosis Mistakenly Diagnosed as Ovarian Tumor in a Pregnant Woman

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Rajendra B. Nerli

2016-01-01

Full Text Available We report a case of giant hydronephrosis that was wrongly diagnosed as an ovarian cyst and explored in a pregnant woman. Giant hydronephrosis are uncommon and need to be kept in mind as a differential diagnosis while making a clinical diagnosis.

An ultrasonic study of experimental infected hydronephrosis in rabbit

International Nuclear Information System (INIS)

Choi, Byung Ihn; Yu, Yun Jeong; Han, Man Chung; Kim, Chu Wan

1983-01-01

Ultrasonography of rabbit kidney was performed after induction of infected hydronephrosis to evaluate the sequential sonographic changes in 15 rabbits. Infected hydronephrosis was induced by ligation of the distal ureter and ureteral inoculation of Escherichia coli. Ultrasonography was performed daily during the first two weeks and weekly during the following 4 weeks after induction of infected hydronephrosis. The results are as follows: 1. The earliest abnormal ultrasonographic findings was appearance of internal echoes in dependent portion of the pelvis, which appeared within 4 days after inoculation in all cases. 2. Degree of internal echoes within the pelvis increased progressively with lapse of time and the entire pelvis was filled with internal echoes within 2 weeks after inoculation in all cases. 3. Echogenecity of internal echoes within the pelvis was similar to that of renal parenchyma in the first week after inoculation, however was weaker than that of renal parenchyma 2 weeks after inoculation in all cases

Roentgenological criteria od assessment of stages of hydronephrosis in children

International Nuclear Information System (INIS)

Pavlova, M.K.

1988-01-01

A new parenchymatous index was proposed in order to raise the resolving power of excretory urography, and 3 stages of hydronephrosis were defined on the basis of quantitative indices. X-ray criteria were defined to prevent surgery in a group of children with the initial stage of disease. A group of patients with the terminal stage of hydronephrosis was subdivided into 2 groups: 1) sparing operation, 2) nephrectomy

Hydronephrosis in Infants and Children: Natural History and Risk Factors for Persistence in Children Followed by a Medical Service

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Kristy Van Dervoort

2009-01-01

Full Text Available Background Infants with neonatal hydronephrosis and a normal voiding cystourethrogram (VCUG are presumed to have ureteropelvic junction obstruction (UPJO. There is little current information about the natural history of children with hydronephrosis or clinical factors that predict resolution of the radiological abnormality. Objective To determine the time course until spontaneous resolution of neonatal hydronephrosis and define risk factors for persistence of the abnormality. Methods This retrospective single center review examined infants and children <5 years of age with hydronephrosis who were followed for at least 12 months. Results 136 children were identified (96 male:40 female. The mean age at diagnosis of hydronephrosis was 3.3 ± 9.7 months and 76% of the patients were diagnosed at birth. The hydronephrosis was unilateral in 98 (72% of cases, and hydronephrosis was at least moderate in severity in 22% of affected kidneys. At last follow-up at 30 ± 10 months, the abnormality had resolved in 77 out of 115 (67% available patients, 30 (26% had been referred to urology, and 12 (10% had persistent hydronephrosis. Severity of hydronephrosis was the only clinical feature that predicted persistence of the abnormality (P < 0.001. There was an association between detection at birth and lack of resolution of hydronephrosis. Conclusions Children with hydronephrosis and presumed UPJO and normal kidney parenchyma can be followed for at least 2 years to allow for spontaneous resolution before referral to urology. Serial sonography can be performed at 6 month intervals in uncomplicated cases. More severe hydronephrosis and presence of the lesion at birth may predict infants and children requiring closer observation and referral for possible surgical correction of the hydronephrosis.

How can the process of postnatal adaptation be changed by the presence of congenital abnormalities of lip and palate

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Brucknerová Ingrid

2017-12-01

Full Text Available Despite modern approaches in molecular biology and genetics, we are still not able to identify the actual cause in more than 50% of all congenital defects. One-half of the unidentified cases is referred to as “multifactorial”. Detailed prenatal investigation of the fetus can discover the presence of congenital abnormality, which can worsen the process of postnatal adaptation. Retrospective analysis of newborns admitted to the Neonatal Department of Intensive Medicine (NDIM in 2012-2016 with the aim to analyze how the process of postnatal adaptation can be changed by the presence of congenital abnormalities of lip and palate. During a five-year period, 13 newborns were admitted to NDIM (2 premature; 11 term newborns. Chromosomal abnormality was confirmed in one patient (Down syndrome and in one patient suspicion of Patau syndrome was found. Twelve newborns had complete cheilognathopalatoschisis. Two premature newborns and two term newborns had perinatal asphyxia. In this group of patients, 33% had respiratory insufficiency without the presence of congenital heart abnormality, 66% had congenital heart abnormality with respiratory insufficiency, and 2 patients had feeding problems. Only one patient had a positive family history. The diagnosis of complete cheilognathopalatoschisis was confirmed prenatally only in 9 patients. We confirmed that clinical consequences of congenital abnormalities of lip and palate depend on the nature, localization and range of abnormalities, as well as on the genetic background and accompanying congenital abnormalities. Prenatal confirmation of the presence of congenital abnormalities has an important influence on the postnatal management of a patient.

Our ultrasonographic experience in the management of symptomatic hydronephrosis during pregnancy.

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Dell'Atti, Lucio

2016-03-01

The aim of the present study was to document the role of ultrasound in the diagnosis and management of symptomatic hydronephrosis during pregnancy. In this study, we reviewed 36 consecutive cases of pregnant women whose pregnancy was complicated by symptomatic hydronephrosis. In all patients, management was initially conservative (analgesics and fluids) after hospitalization. The following criteria were used to indicate double-J stent placement under US guidance rather than a conservative treatment: persistent pain with no improvement after conservative treatment, progressive hydronephrosis (>2 cm dilatation of the renal pelvis) or presence of uterine contractions. The mean patient's age was 25 years (17-35) and gestational age at clinical presentation was 24 weeks (13-37). 81 % of cases had a renal pelvis dilatation >2 cm, while in only 19 % of cases there was a hydronephrosis between 1 and 2 cm in diameter; however, calculi were confirmed only in 25 patients. 28 patients required an invasive management with double-J stent insertion under US guidance. The sensitivity and specificity of US in the etiological diagnosis of hydronephrosis during pregnancy was 83 and 91 %, respectively. Conservative management with medical therapy and observation should be the first-line treatment approach. In our opinion a rapid ureteral decompression with the insertion of a ureteral double-J stent, under US visualization, is the safest method in the treatment of pregnant women with obstructed renal systems.

Doppler visualization of ureteric jets in unilateral hydronephrosis in children and adolescents

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Cvitkovic Kuzmic, Andrea E-mail: andreack@workmail.com; Brkljacic, Boris; Rados, Marko; Galesic, Kresimir

2001-09-01

Objective: to evaluate Doppler visualization of ureteric jets in the assessment of unilateral kidney collecting system dilatation in children and adolescents. Methods and patients: color Doppler ultrasonography was performed in 27 patients with hydronephrosis (11 female, 16 male, age range 3-21 years, mean age 10.5{+-}4.4). Nine had acute obstruction due to ureteral calculus, seven had obstructive hydronephrosis due to uretero-pelvic junction (UPJ) stenosis, and 11 had non-obstructive hydronephrosis. Doppler was also performed in 32 healthy children (15 boys and 17 girls, age 2-17 years, mean age 7.8{+-}3.9), who represented the control group. Results: in the control group jets were visible in 57 out of 64 ureteric units (89%). The mean frequency of jets in healthy children was 4.1 jets per min. In all children with hydronephrosis, jets were visible in 25 out of 27 normal ureteric units (92.6%), and their mean frequency was 4.5 jets per min. In children with acute unilateral colic, ureteric jets were completely absent in eight of nine patients (89%). In children with obstructive hydronephrosis, due to UPJ stenosis, jets were absent in five out of seven patients (71.4%), and in children with non-obstructive hydronephrosis jets were absent in three out of eleven patients (27.3%). When jets are visible, their frequencies are much lower on the obstructed side as compared with normal side, while in cases of nonobstructive dilatation frequency of jets is similar on both sides. Conclusion: absence of jets in patients with acute obstruction due to ureteral calculus, strongly correlates with high-grade obstruction. In children with UPJ stenosis, presence of ureteric jet does not exclude significant obstruction, but the frequency of jets on the obstructed side is much lower as compared with the unaffected side. When there is absence of jet from the dilated side or significant asymmetry in jet frequency, hydronephrosis is likely to be obstructive.

Doppler visualization of ureteric jets in unilateral hydronephrosis in children and adolescents

International Nuclear Information System (INIS)

Cvitkovic Kuzmic, Andrea; Brkljacic, Boris; Rados, Marko; Galesic, Kresimir

2001-01-01

Objective: to evaluate Doppler visualization of ureteric jets in the assessment of unilateral kidney collecting system dilatation in children and adolescents. Methods and patients: color Doppler ultrasonography was performed in 27 patients with hydronephrosis (11 female, 16 male, age range 3-21 years, mean age 10.5±4.4). Nine had acute obstruction due to ureteral calculus, seven had obstructive hydronephrosis due to uretero-pelvic junction (UPJ) stenosis, and 11 had non-obstructive hydronephrosis. Doppler was also performed in 32 healthy children (15 boys and 17 girls, age 2-17 years, mean age 7.8±3.9), who represented the control group. Results: in the control group jets were visible in 57 out of 64 ureteric units (89%). The mean frequency of jets in healthy children was 4.1 jets per min. In all children with hydronephrosis, jets were visible in 25 out of 27 normal ureteric units (92.6%), and their mean frequency was 4.5 jets per min. In children with acute unilateral colic, ureteric jets were completely absent in eight of nine patients (89%). In children with obstructive hydronephrosis, due to UPJ stenosis, jets were absent in five out of seven patients (71.4%), and in children with non-obstructive hydronephrosis jets were absent in three out of eleven patients (27.3%). When jets are visible, their frequencies are much lower on the obstructed side as compared with normal side, while in cases of nonobstructive dilatation frequency of jets is similar on both sides. Conclusion: absence of jets in patients with acute obstruction due to ureteral calculus, strongly correlates with high-grade obstruction. In children with UPJ stenosis, presence of ureteric jet does not exclude significant obstruction, but the frequency of jets on the obstructed side is much lower as compared with the unaffected side. When there is absence of jet from the dilated side or significant asymmetry in jet frequency, hydronephrosis is likely to be obstructive

The association between maternal hydronephrosis and acute flank pain during pregnancy: a prospective pilot-study.

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Farr, Alex; Ott, Johannes; Kueronya, Verena; Margreiter, Markus; Javadli, Elchin; Einig, Sabrina; Husslein, Peter W; Bancher-Todesca, Dagmar

2017-10-01

Maternal hydronephrosis may cause flank pain during pregnancy. We aimed to investigate the association between maternal hydronephrosis and flank pain intensity. From 2014 to 2015, all consecutive women with singleton pregnancies, who presented at our tertiary center due to acute flank pain, were prospectively evaluated by renal ultrasonography and pain questionnaires. A visual analogue scale was used to assess pain intensity. The study had 90% power to detect a significant correlation between hydronephrosis and flank pain (Spearman's test). A total of 51 consecutive women with left-sided (13.7%), right-sided (64.7%) or bilateral (21.6%) pain were enrolled. The mean gestational age of these women, who presented due to their pain, was 27.5 ± 6.8 weeks at the time of consultation. The mean VAS score was 7.6 ± 2.2. In 43/51 (84.3%) women, hydronephrosis was found on renal sonograms. No correlation was found between the grade of hydronephrosis and pain intensity (p = 0.466; r= -0.28). Women delivered at a mean gestational age of 38.1 ± 2.4 weeks and their infants had a mean birthweight of 3138 ± 677 g. Hydronephrosis is a common finding among pregnant women with acute flank pain. The grade of hydronephrosis does not affect pain intensity. This study suggests normal pregnancy outcomes in these women.

The connection of hydronephrosis and microcirculation deterioration

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Vorobets Dmytro

2016-09-01

Full Text Available In this study, we have analyzed the influence of hydronephrosis upon the microcirculation system, in situations of pyeloureteral junction obstruction. Herein, bulbar conjunctiva has been chosen as the object of this biomicroscopic study because of its simplicity and the method availability in clinic practice. In fulfilling this work, we ascertained the connections between extravascular, intravascular, vascular and general conjunctival indices of the patients before radical and paliatic correction of the pyeloureteral junction obstruction (i.e. by open and laparoscopic pyeloplasty, endopyelotomy, laser resection and balloon dilatation. We concluded that, apart from the proved deterioration of kidney function, systemic deteriorations of microcirculation may be observed in situations of clinically marked hydronephrosis, according to the results of radioisotope renography and excretory urography.

Role of diuretic renal dynamic study in the postnatal management of antenatal hydronephrosis

International Nuclear Information System (INIS)

Kumar, Rakesh; Padhy, A.K.; Gupta, K.; Srilatha; Mitra, D.K.; Agarwala, S.; Bhatnagar, V.

1998-01-01

Forty three renal units with hydronephrosis diagnosed antenatally in 29 children were evaluated postnatally with Diuretic Renal Dynamic Studies (DRDS) using 99m Tc-diethylene triamine pentaacetic acid (DTPA). Based on the results of the radionuclide studies 4 renal units were diagnosed as non-obstructive and 7 as obstructive hydronephrosis. The results in the rest of the 31 renal units were equivocal for outflow tract obstruction. All these children were followed up at periodic intervals, approximately between 2-6 months time and evaluated clinically, biochemically and by radionuclide studies (DRDS) up to a period of 2-4 years following institution of conservative or surgical treatment. Four renal units with non-obstructive hydronephrosis and 7 with unequivocally obstructive hydronephrosis were managed by conservative and surgical treatment (pyeloplasty), respectively. Of the thirty-one renal units with equivocal results on DRDS, 10 were treated by pyeloplasty and follow-up studies on them revealed improvement in function and drainage in 8 (80%) while no significant change could be detected in one and further deterioration in renal function was detected in one. The remaining 21 renal units were treated conservatively. Follow-up studies revealed spontaneous improvement leading to complete resolution of hydronephrosis in 13 (62%), no change in 4 (19%) and deterioration in 4 (19%). Overall results of this study revealed that more than 80% of antenatal hydronephrosis showing equivocal pattern on postnatal diuresis renogram either resolved spontaneously or remained stable in the postnatal period over a long period ranging from 2-4 years. Therefore it is suggested that such cases of neonatal hydronephrosis should be managed conservatively initially for a minimum period of one year with periodic evaluation by serial diuresis renal dynamic studied every 2-6 months. Surgical intervention should be contemplated only when there is definite evidence of organic obstruction

Delayed hydronephrosis due to retroperitoneal hematoma after a seatbelt injury: A case report.

Science.gov (United States)

Yumoto, Tetsuya; Kondo, Yoshitaka; Kumon, Kento; Masaoka, Yoshihisa; Hiraki, Takao; Yamada, Taihei; Naito, Hiromichi; Nakao, Atsunori

2018-06-01

Hydronephrosis caused by retroperitoneal hematoma after a seatbelt injury is a unique clinical entity. A 21-year-old man, who had been wearing a seatbelt, was brought to our hospital after a motor vehicle collision, complaining of abdominal pain. Computed tomography (CT) revealed retroperitoneal hematoma in the upper pelvic region. Since he was hemodynamically stable throughout admission, he was managed conservatively. Seventeen days after initial discharge, the patient revisited our emergency department due to right back pain. CT scans indicated retroperitoneal hematoma growth resulting in hydronephrosis of the right kidney. Laparoscopic drainage of the retroperitoneal hematoma was successfully performed. His symptoms resolved after the surgery. Follow-up CT scans three months later demonstrated complete resolution of the hydronephrosis and retroperitoneal hematoma. Our case highlights a patient with delayed hydronephrosis because of retroperitoneal hematoma expansion after a seatbelt injury.

Has the prevalence of congenital abnormalities after intracytoplasmic sperm injection increased? The Leuven data 1994-2000 and a review of the literature.

Science.gov (United States)

Hindryckx, An; Peeraer, Karen; Debrock, Sophie; Legius, Eric; de Zegher, Francis; Francois, Inge; Vanderschueren, Dirk; Demyttenaere, Koen; Rijkers, Anna; D'Hooghe, Thomas

2010-01-01

Although intracytoplasmic sperm injection (ICSI) is now accepted as the treatment of choice for severe male infertility, concerns about its safety and the potential risks for the offspring remain. We reviewed the literature with respect to the prevalence of major congenital malformations after the ICSI technique and supplemented these data with the results of a prospective follow-up study performed in our center. From January 1994 till June 2000, 776 ICSI cycles were carried out at the Leuven University Fertility Center. The resulting pregnancies (n = 172) were followed for biochemical and obstetrical parameters, prenatal diagnosis and congenital abnormalities. A total of 134/172 (78%) ongoing pregnancies resulted in 132 deliveries of 166 live born children. Two terminations of pregnancy were carried out due to the presence of major congenital anomalies, diagnosed at prenatal ultrasound. Prenatal diagnosis was carried out in 55 fetuses. Two de novo chromosomal aberrations were found. Major congenital abnormalities were observed at birth in 9/150 (6.0%) children. The total malformation rate was 6.5%. The prevalence of congenital abnormalities in children born after ICSI in our center (6.5%) was comparable to the prevalence of congenital abnormalities after ICSI reported in the literature. Copyright (c) 2010 S. Karger AG, Basel.

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

International Nuclear Information System (INIS)

Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

2014-01-01

There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

Nyre- og urinvejsabnormiteter hos småbørn

DEFF Research Database (Denmark)

Cortes, Dina; Lee, Kirsten; Thorup, J M

1999-01-01

abnormalities after presentry with their first urinary tract infection. The obstructive urological diagnoses: congenital hydronephrosis, congenital megaureter and posterior urethral valves made up to 57% (20/35) of the abnormalities. Nine boys were operated upon; three for unilateral hydronephrosis, two...

[Pathogenesis and therapy of hydronephrosis after hematopoietic stem cell transplantation].

Science.gov (United States)

Yu, Lu-ping; Xu, Tao; Huang, Xiao-bo; Wang, Xiao-feng

2014-08-18

To investigate the pathogenesis and therapy of hydronephrosis after hematopoietic stem cell transplantation (HSCT). From March 2004 to March 2014, 23 patients with hydronephrosis after HSCT were identified. With these data, the pathogenesis of hydronephrosis after HSCT were analyzed. According to the surgical intervention of hydronephrosis and ureteral dialation of ureteral stricture, the patients were divided into two groups, rank-sum test and exact probability test were used to evaluate whether there were significant differences in the time of hemorrhagic cystitis (HC) occurred, ureteritis and viremia. HC, ureteritis, ureteral stenosis were all the causes of hydronephrosis after HSCT. In this study, 69.6% (16/23) of the patients suffered from HSCT were cured by conservative treatment, 30.4% (7/23) by surgical intervention, and 13.0% (3/23) by insertion DJ stent or nephrostomy.Of the patients [17.4% (4/23)] who suffered ureteral stenosis, 2 were cured after the balloon dialation of ureter, 1 needed DJ tube long-term insertion, and 1 was still followed-up. rank-sum test and exact probability test results showed that the patients who needed surgical intervention might suffer from HC later than other patients, and their incidences of viremia and ureteritis were higher, but the differences between the two groups were not statistically significant (P = 0.524, P = 0.169, and P = 0.124, respectively). The results also showed that the ureteritis incidences of the patients who suffered from ureteral stricture and needed ureteral dialation were higher than that of the other patients, and the difference between the two groups was statistically significant (P = 0.024). The patients who needed ureteral dialation suffered from HC later and their incidences of viremia was higher, but the differences between the two groups were not statistically significant (P = 0.73 and P = 0.27). HC, ureteritis and ureteral stenosis may cause hydronephrosis after HSCT. Patients may treated by

Requirements for accurately diagnosing chronic partial upper urinary tract obstruction in children with hydronephrosis

International Nuclear Information System (INIS)

Koff, Stephen A.

2008-01-01

Successful management of hydronephrosis in the newborn requires early accurate diagnosis to identify or exclude ureteropelvic junction obstruction. However, the presence of hydronephrosis does not define obstruction and displays unique behavior in the newborn. The hydronephrotic kidney usually has nearly normal differential renal function at birth, has not been subjected to progressive dilation and except for pelvocaliectasis does not often show signs of high-grade obstruction. Furthermore, severe hydronephrosis resolves spontaneously in more than 65% of newborns with differential renal function stable or improving. The diagnosis of obstruction in newborn hydronephrosis is challenging because the currently available diagnostic tests, ultrasonography and diuretic renography have demonstrated inaccuracy in diagnosing obstruction and predicting which hydronephrotic kidney will undergo deterioration if untreated. Accurate diagnosis of obstruction is possible but it requires an understanding of the uniqueness of both the pathophysiology of obstruction and the biology of the kidney and renal collecting system in this age group. We examine here the requirements for making an accurate diagnosis of obstruction in the young child with hydronephrosis. (orig.)

Requirements for accurately diagnosing chronic partial upper urinary tract obstruction in children with hydronephrosis

Energy Technology Data Exchange (ETDEWEB)

Koff, Stephen A. [Ohio State University College of Medicine, Section of Pediatric Urology, Columbus Children' s Hospital, Columbus, OH (United States)

2008-01-15

Successful management of hydronephrosis in the newborn requires early accurate diagnosis to identify or exclude ureteropelvic junction obstruction. However, the presence of hydronephrosis does not define obstruction and displays unique behavior in the newborn. The hydronephrotic kidney usually has nearly normal differential renal function at birth, has not been subjected to progressive dilation and except for pelvocaliectasis does not often show signs of high-grade obstruction. Furthermore, severe hydronephrosis resolves spontaneously in more than 65% of newborns with differential renal function stable or improving. The diagnosis of obstruction in newborn hydronephrosis is challenging because the currently available diagnostic tests, ultrasonography and diuretic renography have demonstrated inaccuracy in diagnosing obstruction and predicting which hydronephrotic kidney will undergo deterioration if untreated. Accurate diagnosis of obstruction is possible but it requires an understanding of the uniqueness of both the pathophysiology of obstruction and the biology of the kidney and renal collecting system in this age group. We examine here the requirements for making an accurate diagnosis of obstruction in the young child with hydronephrosis. (orig.)

Congenital intestinal lymphangiectasia. A case report

Directory of Open Access Journals (Sweden)

Georgios Mitsiakos

2017-12-01

Full Text Available Congenital intestinal lymphangiectasia, first described by Waldmann et al. in 1961, is a rare congenital malformation of the lymphatics, presented with generalized edema, hypoproteinemia and lymphopenia. Diagnosis is based on endoscopy findings and pathology.We present here a case of a male neonate, second child of an indigenous woman, delivered by caesarean section. Prenatally, multiple cystic abdominal masses were identified by ultrasound. The patient was treated successfully with enterectomy and anastomosis. Histopathology revealed primary intestinal lymphangiectasia with no features of malignancy.Intestinal lymphangiectasia is a rare pathology, which should be differentiated while exploring abdominal masses, hypoproteinemia and edema especially in neonates.

Is there a correlation between maternal serum TGF-β1 levels and fetal hydronephrosis?

Science.gov (United States)

Seven, Ali; Savran, Bircan; Koçak, Emel; Tok, Sermin; Yüksel, Kadriye Beril; Gözükara, İlay; Kabil Kucur, Suna

2016-01-01

We aimed to identify a noninvasive marker for clinically significant fetal uropathies. To achieve this aim, we detected TGF (transforming growth factor)-β1 serum level which rises in neonatal hydronephrosis, in pregnant patients with fetal hydronephrosis. We evaluated 44 patients, all of whom were pregnant and had a gestational age between 20 and 30 weeks. Twenty-two patients had normal maternal renal ultrasound imaging and had a fetus with fetal hydronephrosis (Group A). The remaining twenty-two patients had normal maternal and fetal renal ultrasound imaging (Group B). The maternal serum levels of TGF-β1 were measured with a sandwich enzyme-linked immunosorbent assay (ELISA) using a commercially available kit. The median value for the study group was 55.90 pg/mL (9.67 ± 574.45) and for the control group was 59.49 pg/mL (12.49 ± 402.04). There was no statistical difference in serum TGF-β1 levels between the groups (p = 0.769 - Mann-Whitney U test). In the study group, the diameter of the right renal pelvis was 5.7 mm (5.1-8.9 mm), while the diameter of left renal pelvis was 5.75 mm (5.3-10.04 mm). In our study, the circulating TGF-β1 levels were not statistically different in the fetal hydronephrosis group when compared to the controls. According to our study, TGF-β1 is not useful in the detection and follow-up of fetal hydronephrosis. We therefore require further studies involving larger groups with moderate or severe fetal hydronephrosis to detect the usefulness of the serum levels of TGF-β1 in pregnant women with fetal hydronephrosis.

PROBLEM OF DIAGNOSIS OF EARLY CONGENITAL SYPHILIS

Directory of Open Access Journals (Sweden)

G. P. Martynova

2013-01-01

Full Text Available The paper presents a case of delayed diagnosis of early congenital syphilis in a child whose mother was observed in prenatal clinic starting from the 14th week of pregnancy. The child had specific skin rash already in maternity. The child was discharged home without examination in the hospital. Only manifestations of nephritis lead to admission of the child into an inpatient hospital. Only at the age of 1 month and 23 days the child was suspected of early congenital syphilis with severe polisimptomnym, and the patient was transferred to specialized hospital. 

Isolated iliac artery aneurysms with associated hydronephrosis.

LENUS (Irish Health Repository)

O'Driscoll, D

2012-02-03

An isolated iliac artery aneurysm is where there is aneurysmal dilatation of one or more branches of the iliac system, with no associated dilatation of the aorta. Such aneurysms are rare and comprise 1% of all intra-abdominal aneurysms. The signs and symptoms of such an aneurysm are influenced by its concealed location within the bony pelvis. Awareness of these special characteristics improves the chances of early diagnosis and proper treatment before possible rupture. We present the clinical and radiological features of three such aneurysms. Ultrasound was the first imaging modality to be performed. Ipsilateral hydronephrosis was demonstrated in each case, this lead to imaging the pelvis and the correct diagnosis. We review the clinical and radiological literature and conclude that the pelvis should be imaged in all cases of unexplained hydronephrosis.

Antenatal diagnosis of the congenital craniopharyngioma

International Nuclear Information System (INIS)

Jurkiewicz, E.; Bekiesinska-Figatowska, M.; Duczkowski, M.; Grajkowska, W.; Roszkowski, M.; Czech-Kowalska, J.; Dobrzanska, A.

2010-01-01

Background: Craniopharyngioma is a rare fetal and neonatal tumor. Case Report: We report a case of a congenital craniopharyngioma diagnosed by prenatal magnetic resonance. This diagnosis was confirmed by postnatal MR imaging, neurosurgical treatment and histopathological examination. Conclusions: Outcome of neonatal craniopharyngioma is very poor, even if radical surgery is performed. The main problems are pituitary insufficiency, diabetes insipidus, and visual disturbance. (authors)

The Impact of Gestational Age at Delivery on Urologic Outcomes for the Fetus with Hydronephrosis.

Science.gov (United States)

Benjamin, Tara; Amodeo, Rhiannon R; Patil, Avinash S; Robinson, Barrett K

2016-01-01

Compare short-term urologic outcomes with delivery timing in fetuses with severe hydronephrosis. An ultrasound database was queried for severe hydronephrosis. Cases were categorized into late preterm/early term (36 0/7 - 38 6/7 weeks) and full term (39 0/7 weeks or greater) groups. Baseline characteristics were compared using standard statistical methods. Spearman's correlation analysis was performed for grade and severity of hydronephrosis on first postnatal ultrasound with gestational age at delivery. Of 589 cases, 79 (33 late preterm/early term, 46 full term) met criteria. Baseline characteristics were similar between groups. Spearman's correlation coefficients (rs) indicated that increased postnatal Society for Fetal Urology grade, rs= -0.26 (95% CI [-.48, -.002]), and severity of hydronephrosis, rs= -0.39 (95% CI [-.59, -.14]), both correlated with earlier delivery. Late preterm/early term delivery resulted in worse short-term postnatal renal outcomes. Unless otherwise indicated, delivery for fetal hydronephrosis should be deferred until 39 weeks.

Impact of Hydronephrosis on Treatment Outcome of Solitary Proximal Ureteral Stone After Extracorporeal Shock Wave Lithotripsy

Directory of Open Access Journals (Sweden)

Hsi-Lin Hsiao

2008-10-01

Full Text Available The purpose of this study was to investigate the impact of hydronephrosis on the treatment outcome of patients with a solitary proximal ureteral stone after extracorporeal shock wave lithotripsy (ESWL. A total of 182 consecutive patients who underwent ESWL for a solitary proximal ureteral stone of between 5 and 20 mm in size in our institution were included in this study. The degree of hydronephrosis was defined by renal ultrasonography. Patient data, stone size, shock wave numbers and shock wave energy were also recorded. Treatment outcome was evaluated 3 months after the first session of ESWL. In multivariate analysis, only the maximal stone length (odds ratio [OR], 0.15; 95% confidence interval [CI], 0.03–0.91; p = 0.04 and the degree of hydronephrosis (OR, 0.40; 95% CI, 0.16–0.98; p = 0.045 were significant predicting factors for stone-free status 3 months after ESWL. For stones ≤ 10 mm, the stone-free rate decreased from 80% in patients with mild hydronephrosis to 56.4% in those with moderate to severe hydro-nephrosis. For stones > 10 mm, the stone-free rate decreased further, from 65.2% in patients with mild hydronephrosis to 33.3% in those with moderate to severe hydronephrosis. In summary, patients with a solitary proximal ureteral stone and a stone > 10 mm, the treatment outcome after ESWL was not good if moderate to severe hydronephrosis was noted on ultrasonography. Alternative treatments, such as ureteroscopic lithotripsy, may be appropriate as initial treatment or after failure of one session of ESWL.

Endoscopic placement of double-J ureteric stents in children as a treatment for primary hydronephrosis.

Science.gov (United States)

Pogorelić, Zenon; Brković, Tomislava; Budimir, Dražen; Todorić, Jakov; Košuljandić, Đurđica; Jerončić, Ana; Biočić, Mihovil; Saraga, Marijan

2017-06-01

The aim of this study was to determine the efficacy and potential complications of double-J ureteric stents in the treatment of primary hydronephrosis in pediatric patients. A retrospective case-records review of 133 patients (45 girls and 88 boys) treated because of primary hydronephrosis with double-J ureteric stents, in Department of Pediatric Surgery, Split University Hospital, between December 1997 and December 2014, was performed. Success of treatment, results of follow up investigations and complications were recorded. Patients were followed up clinically and radiologically for a minimum of 2 years following stent insertion. In all, 133 endoscopic double-J ureteric stents insertions were performed. Of the total number of patients, left-sided hydronephrosis was found in 82 patients, right-sided in 38, and bilateral in 13 patients. The median age of children was 2 years (range 0-17 years). Mean hospital stay was 2 days (range 1-10 days). In primary hydronephrosis, double-J ureteric stenting alone was effective with resolution of hydronephrosis in 73% of cases (97/133 insertions). Regarding the age of the patients the highest success of 83.5% was achieved in age group 0-4 years. Success in groups 5-9 years; 10-14 years and 15-17 years were 47%; 33.5% and 0%, respectively. Several complications have been recorded: symptomatic infections, migration in the renal pelvis and bladder, progression of hydronephrosis, spontaneously prolapse of prosthesis, bleeding and perforation of the renal pelvis. A significant, decreasing trend in success rates by age of participants was observed (p hydronephrosis. Endoscopic placement of ureteric double-J stents should be considered as a first-line treatment in the management of primary hydronephrosis especially in children till 4 years of age, with success rate of 83.5% and without the need for conventional surgery. In a case of failure we are time-consuming to definitive surgery.

Management of ureteral endometriosis with hydronephrosis: Experience from a tertiary medical center.

Science.gov (United States)

Huang, Jing-Zhi; Guo, Hong-Ling; Li, Jin-Bo; Chen, Shu-Qin

2017-10-01

We report the clinical characteristics and experience of the surgical management of ureteral endometriosis in our institution. We retrospectively reviewed the data of patients with hydronephrosis resulting from ureteral endometriosis. Forty-six patients with different degrees of hydronephrosis were included in the study; 35% had urinary tract symptoms. Concomitant involvement of the ipsilateral ovary occurred in more than two-thirds of the patients. Four patients had nephrectomy, one of which involved ureterolysis because of hydronephrosis recurrence six months later. Hydronephrosis may be caused by uncommon reasons, such as ureteral endometriosis, which can even cause silent loss of renal function. Routine ultrasound scanning of the upper urinary tract for severe stages of endometriosis is very important in order to detect any potential ureteral lesions. Ureterolysis should be considered as the first surgical step, not only to avoid iatrogenic ureteral injuries but also to better evaluate ureter involvement for further procedures. To warrant tension-free and lesion-free anastomosis, it is wise to perform ureteroneocystostomy for long-term sound results. © 2017 Japan Society of Obstetrics and Gynecology.

[Social factors associated with use of prenatal care in Ecuador].

Science.gov (United States)

Sánchez-Gómez, Amaya; Cevallos, William; Grijalva, Mario J; Silva-Ayçaguer, Luis C; Tamayo, Susana; Jacobson, Jerry O; Costales, Jaime A; Jiménez-Garcia, Rodrigo; Hernández-Barrera, Valentín; Serruya, Suzanne; Riera, Celia

2016-11-01

Prenatal care is a pillar of public health, enabling access to interventions including prevention of mother-to-child transmission of HIV and congenital syphilis. This paper describes social factors related to use of prenatal care in Ecuador. In 2011 and 2012, participant clinical history and interview information was analyzed from a national probability sample of 5 998 women presenting for delivery or miscarriage services in 15 healthcare facilities in Ecuador, to estimate prevalence of HIV, syphilis, and Chagas disease, and prenatal care coverage. The study found that 94.1% of women had attended at least one prenatal visit, but that attendance at no less than four visits was 73.1%. Furthermore, lower educational level, greater number of pregnancies, occupation in the agriculture or livestock sector, and membership in ethnic indigenous, Afro-Ecuadorian, or other minority groups were factors associated with lack of use (no prenatal visits) or insufficient use of prenatal care (fewer than four visits or first visit at >20 weeks gestation) in Ecuador. These results point to persistence of marked inequalities in access to and use of prenatal health services attributable to socioeconomic factors and to the need to strengthen strategies to address them, to reach the goal of universal prenatal care coverage.

Renal denervation attenuates NADPH oxidase-mediated oxidative stress and hypertension in rats with hydronephrosis

DEFF Research Database (Denmark)

Peleli, Maria; Al-Mashhadi, Ammar; Yang, Ting

2016-01-01

Hydronephrosis is associated with development of salt-sensitive hypertension. Studies suggest that increased sympathetic nerve activity (SNA) and oxidative stress play important roles in renovascular hypertension. This study aimed to investigate the link between renal SNA and NADPH oxidase (NOX......) regulation in the development of hypertension in rats with hydronephrosis. Hydronephrosis was induced by partial unilateral ureteral obstruction (PUUO) in young rats. Sham surgery or renal denervation was performed at the same time. Blood pressure was measured during normal, high and low salt diets. Renal...

Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy.

Science.gov (United States)

Nishiyama, Kei; Imai, Takashi; Ohkubo, Kazuhiro; Sanefuji, Masafumi; Takada, Hidetoshi

2017-03-01

Mucopolysaccharidosis type II (MPS II) is caused by deficiency of lysosomal enzyme iduronate-2-sulfatase. Insufficient activity of the enzyme results in accumulation of glycosaminoglycans leading to progressive multisystem pathologies. MPS II is less likely to be complicated by kidney and urinary tract problems. We report a boy with MPS II, who developed left hydronephrosis. His hydronephrosis improved after starting enzyme replacement therapy. It was suggested that MPS II was closely associated with the pathogenesis of hydronephrosis. Copyright © 2016 Elsevier Inc. All rights reserved.

Expert surgical consensus for prenatal counseling using the Delphi method.

Science.gov (United States)

Berman, Loren; Jackson, Jordan; Miller, Kristen; Kowalski, Rebecca; Kolm, Paul; Luks, Francois I

2017-11-28

Pediatric surgeons frequently offer prenatal consultation for congenital pulmonary airway malformation (CPAM) and congenital diaphragmatic hernia (CDH); however, there is no evidence-based consensus to guide prenatal decision making and counseling for these conditions. Eliciting feedback from experts is integral to defining best practice regarding prenatal counseling and intervention. A Delphi consensus process was undertaken using a panel of pediatric surgeons identified as experts in fetal therapy to address current limitations. Areas of discrepancy in the literature on CPAM and CDH were identified and used to generate a list of content and intervention questions. Experts were invited to participate in an online Delphi survey. Items that did not reach first-round consensus were broken down into additional questions, and consensus was achieved in the second round. Fifty-four surgeons (69%) responded to at least one of the two survey rounds. During round one, consensus was reached on 54 of 89 survey questions (61%), and 45 new questions were developed. During round two, consensus was reached on 53 of 60 survey questions (88%). We determined expert consensus to establish guidelines regarding perinatal management of CPAM and CDH. Our results can help educate pediatric surgeons participating in perinatal care of these patients. V. Copyright © 2017 Elsevier Inc. All rights reserved.

Congenital toxoplasmosis.

Science.gov (United States)

Kieffer, François; Wallon, Martine

2013-01-01

Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

Resource utilization and costs associated with the diagnostic evaluation of nonrefluxing primary hydronephrosis in infants.

Science.gov (United States)

Akhavan, Ardavan; Shnorhavorian, Margarett; Garrison, Louis P; Merguerian, Paul A

2014-09-01

Long-term evaluation of postnatal nonrefluxing primary hydronephrosis presents a dilemma for urologists since most cases resolve without surgery. We report longitudinal resource utilization and costs associated with diagnostic evaluation of infants with isolated primary nonrefluxing hydronephrosis to determine the costs associated with diagnosing a surgical case, and we assess the implications using a cost-consequences analysis. A retrospective chart review was used to capture resource utilization for all patients younger than 6 months with hydronephrosis evaluated at our institution during a 5-year period. Infants with confounding urological diagnoses were excluded. Payer and societal perspectives were used. Costs were estimated from resource utilization, including radiographic imaging and clinical encounter types. Data were collected from first clinic visit until surgery or resolution or 3 years, whichever was shortest. Of 165 included patients surgical rates for hydronephrosis were 0% for grade I, 5% for grade II, 21% for grade III and 74% for grade IV. Median respective costs of identifying a single surgical case per increasing hydronephrosis grade 0 to IV were infinite, $37,600, $11,741 and $2,124 (p hydronephrosis is significantly more productive in terms of identifying patients requiring surgery vs evaluation of patients with lower grade disease. In patients with grades I and II hydronephrosis a more abbreviated diagnostic strategy than the current standard of care may be warranted. For the population in this analysis we project that a less intensive approach could save about 24% of costs. Copyright © 2014 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Autonomic control of the heart is altered in Sprague-Dawley rats with spontaneous hydronephrosis

Science.gov (United States)

Arnold, Amy C.; Shaltout, Hossam A.; Gilliam-Davis, Shea; Kock, Nancy D.

2011-01-01

The renal medulla plays an important role in cardiovascular regulation, through interactions with the autonomic nervous system. Hydronephrosis is characterized by substantial loss of renal medullary tissue. However, whether alterations in autonomic control of the heart are observed in this condition is unknown. Thus we assessed resting hemodynamics and baroreflex sensitivity (BRS) for control of heart rate in urethane/chloralose-anesthetized Sprague-Dawley rats with normal or hydronephrotic kidneys. While resting arterial pressure was similar, heart rate was higher in rats with hydronephrosis (290 ± 12 normal vs. 344 ± 11 mild/moderate vs. 355 ± 13 beats/min severe; P hydronephrosis, with no differences in measures of indirect sympathetic activity among conditions. As a secondary aim, we investigated whether autonomic dysfunction in hydronephrosis is associated with activation of the renin-angiotensin system (RAS). There were no differences in circulating angiotensin peptides among conditions, suggesting that the impaired autonomic function in hydronephrosis is independent of peripheral RAS activation. A possible site for angiotensin II-mediated BRS impairment is the solitary tract nucleus (NTS). In normal and mild/moderate hydronephrotic rats, NTS administration of the angiotensin II type 1 receptor antagonist candesartan significantly improved the BRS, suggesting that angiotensin II provides tonic suppression to the baroreflex. In contrast, angiotensin II blockade produced no significant effect in severe hydronephrosis, indicating that at least within the NTS baroreflex suppression in these animals is independent of angiotensin II. PMID:21460193

Case series of eye disorders associated with congenital eye ...

African Journals Online (AJOL)

Background: Congenital diseases are sometimes incompatible with life. Others are, but sometimes at the cost of suffering for the child and family. These abnormalities often have a rich symptomatology and interest several specialties. Ocular signs rarely help in prenatal diagnosis. After birth, the ophthalmologist may ...

Incidence of Hydronephrosis in Cervical Cancer Patients in A Tertiary Hospital Lagog, Nigeria.

Science.gov (United States)

Sowunmi, A C; Ajekigbe, A T; Alabi, A O; Popoola, A O; Fatiregun, O A; Akinyanju, A M

2015-01-01

Cervical cancer is still a global health challenge that affects women of reproductive age group and consequently causes a drawback on the social and economic stability of nations. Developing countries suffer a greater burden of the disease because of several factors such as poverty, multiple sexual partners, unbalanced diet, poor knowledge and attitude to prevention of diseases and late-presentation. The aim of this study is to evaluate the incidence of hydronephrosis in cervical cancer patients in Lagos University Teaching Hospital (LUTH), Lagos, Nigeria for the period of 3 years (2010-2012). This study is a cross sectional study carried out among cervical cancer patients seeking treatment in the Radiotherapy department of the Lagos University Teaching Hospital (LUTH), between the year 2010 and 2012, to find out the incidence of hydronephrosis using abdominopelvic ultrasonography. The incidence of hydronephrosis during the 3years period studied was 43.7%. A rise in the incidence of hydronephrosis of 5.4% in 2011 and 13.3% in 2012 was noted. The mean age of the patients was 55.5 years. 122 (56.7%) were grand multiparous and 123 (57.2%) had multiple sexual partners. An increase of 8.3% in 2011 and 9.3% in 2012 was noted in the incidence of cervical cancer cases studied. 107 (49.8%) presented at stages III and IV. Late presentation of patients is still a major challenge affecting treatment outcomes. The presence of hydronephrosis was noticed at staging, during or after treatment, resulting in the need to separate this population from current Stage IIIB classification. The presence of hydronephrosis may or may not be related to the disease and so adequate staging is important.

The ethics of abortions for fetuses with congenital abnormalities.

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Jotkowitz, Alan; Zivotofsky, Ari Z

2010-10-01

Abortion remains a highly contentious moral issue, with the debate usually framed as a battle between the fetus's right to life and the woman's right to choose. Often overlooked in this debate is the impact of the concurrent legalization of abortion and the development of new prenatal screening tests on the birth prevalence of many inherited diseases. Most proponents of abortion support abortion for fetuses with severe congenital diseases, but there has unfortunately been, in our opinion, too little debate over the moral appropriateness of abortion for much less severe congenital conditions such as Down's syndrome, deafness, and dwarfism. Due to scientific advances, we are looking at a future in which prenatal diagnosis will be safer and more accurate, raising the specter, and the concomitant ethical concerns, of wholesale abortions. Herein, we present a reframing of the abortion debate that better encompasses these conditions and offers a more nuanced position. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Clinical and prognostic value of preoperative hydronephrosis in upper tract urothelial carcinoma: a systematic review and meta-analysis

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Wang, Zhiping

2016-01-01

Background. Epidemiological studies have reported various results relating preoperative hydronephrosis to upper tract urothelial carcinoma (UTUC). However, the clinical significance and prognostic value of preoperative hydronephrosis in UTUC remains controversial. The aim of this study was to provide a comprehensive meta-analysis of the extent of the possible association between preoperative hydronephrosis and the risk of UTUC. Methods. We searched PubMed, ISI Web of Knowledge, and Embase to identify eligible studies written in English. Summary odds ratios (ORs) or hazard ratios (HRs) and 95% confidence intervals (CIs) were calculated using fixed-effects or random-effects models. Results. Nineteen relevant studies, which had a total of 5,782 UTUC patients enrolled, were selected for statistical analysis. The clinicopathological and prognostic relevance of preoperative hydronephrosis was evaluated in the UTUC patients. The results showed that all tumor stages, lymph node status and tumor location, as well as the risk of cancer-specific survival (CSS), overall survival (OS), recurrence-free survival (RFS) and metastasis-free survival (MFS) were significantly different between UTUC patients with elevated preoperative hydronephrosis and those with low preoperative hydronephrosis. High preoperative hydronephrosis indicated a poor prognosis. Additionally, significant correlations between preoperative hydronephrosis and tumor grade (high grade vs. low grade) were observed in UTUC patients; however, no significant difference was observed for tumor grading (G1 vs. G2 + G3 and G1 + G2 vs. G3). In contrast, no such correlations were evident for recurrence status or gender in UTUC patients. Conclusions. The results of this meta-analysis suggest that preoperative hydronephrosis is associated with increased risk and poor survival in UTUC patients. The presence of preoperative hydronephrosis plays an important role in the carcinogenesis and prognosis of UTUC. PMID:27366646

Preoperative hydronephrosis is associated with less decline in renal function after radical nephroureterectomy for upper tract urothelial carcinoma.

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Singla, Nirmish; Hutchinson, Ryan; Haddad, Ahmed; Sagalowsky, Arthur; Lotan, Yair; Margulis, Vitaly

2016-08-01

To compare renal function changes after radical nephroureterectomy (RNU) in patients with upper tract urothelial carcinoma (UTUC) based on the presence of preoperative hydronephrosis. Clinicopathologic data of 208 patients with UTUC treated surgically from 1998 to 2013 were compiled. Patients with bilateral disease, less than 1 month follow up, missing hydronephrosis data, or who underwent nephron-sparing approaches were excluded. Estimated glomerular filtration rate (eGFR) was calculated preoperatively, at first follow up (within 3 months) and at last follow up using the Modification of Diet in Renal Disease equation. Events were defined as new-onset stage III chronic kidney disease (CKD) or worsening of CKD stage in preexisting CKD. Kaplan-Meier event-free survival was assessed. Cox regression was performed to identify predictors of events. A total of 132 patients were analyzed, including 62 (47.0%) with hydronephrosis. Median follow up was 28.6 months. Patients with hydronephrosis had larger tumors (p = 0.045) and higher pathologic stage (p = 0.010) than those without hydronephrosis. Baseline eGFR was comparable between groups (p = 0.088). Patients without hydronephrosis experienced greater declines in eGFR following surgery (p hydronephrosis predicted lower event likelihood in the long term (univariate HR 0.54, p = 0.033), while ureteral tumor location predicted lower event likelihood in the short term (HR 0.52, p = 0.030). Patients with hydronephrosis undergoing RNU for UTUC experience less decline in renal function than those without hydronephrosis. Given the prevalence of renal dysfunction in patients with UTUC, our results may help inform preoperative counseling.

Predominant Role of Cytosolic Phospholipase A2α in Dioxin-induced Neonatal Hydronephrosis in Mice

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Yoshioka, Wataru; Kawaguchi, Tatsuya; Fujisawa, Nozomi; Aida-Yasuoka, Keiko; Shimizu, Takao; Matsumura, Fumio; Tohyama, Chiharu

2014-01-01

Hydronephrosis is a common disease characterized by dilation of the renal pelvis and calices, resulting in loss of kidney function in the most severe cases. 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) induces nonobstructive hydronephrosis in mouse neonates through upregulation of prostaglandin E2 (PGE2) synthesis pathway consisting of cyclooxygenase-2 (COX-2) and microsomal prostaglandin E synthase-1 (mPGES-1) by a yet unknown mechanism. We here studied possible involvement of cytosolic phospholipase A2α (cPLA2α) in this mechanism. To this end, we used a cPLA2α-null mouse model and found that cPLA2α has a significant role in the upregulation of the PGE2 synthesis pathway through a noncanonical pathway of aryl hydrocarbon receptor. This study is the first to demonstrate the predominant role of cPLA2α in hydronephrosis. Elucidation of the pathway leading to the onset of hydronephrosis using the TCDD-exposed mouse model will deepen our understanding of the molecular basis of nonobstructive hydronephrosis in humans. PMID:24509627

Quantitative Ultrasound for Measuring Obstructive Severity in Children with Hydronephrosis.

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Cerrolaza, Juan J; Peters, Craig A; Martin, Aaron D; Myers, Emmarie; Safdar, Nabile; Linguraru, Marius George

2016-04-01

We define sonographic biomarkers for hydronephrotic renal units that can predict the necessity of diuretic nuclear renography. We selected a cohort of 50 consecutive patients with hydronephrosis of varying severity in whom 2-dimensional sonography and diuretic mercaptoacetyltriglycine renography had been performed. A total of 131 morphological parameters were computed using quantitative image analysis algorithms. Machine learning techniques were then applied to identify ultrasound based safety thresholds that agreed with the t½ for washout. A best fit model was then derived for each threshold level of t½ that would be clinically relevant at 20, 30 and 40 minutes. Receiver operating characteristic curve analysis was performed. Sensitivity, specificity and area under the receiver operating characteristic curve were determined. Improvement obtained by the quantitative imaging method compared to the Society for Fetal Urology grading system and the hydronephrosis index was statistically verified. For the 3 thresholds considered and at 100% sensitivity the specificities of the quantitative imaging method were 94%, 70% and 74%, respectively. Corresponding area under the receiver operating characteristic curve values were 0.98, 0.94 and 0.94, respectively. Improvement obtained by the quantitative imaging method over the Society for Fetal Urology grade and hydronephrosis index was statistically significant (p hydronephrosis can identify thresholds of clinically significant washout times with 100% sensitivity to decrease the number of diuretic renograms in up to 62% of children. Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

A review of congenital lung malformations with a simplified classification system for clinical and research use.

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Seear, Michael; Townsend, Jennifer; Hoepker, Amy; Jamieson, Douglas; McFadden, Deborah; Daigneault, Patrick; Glomb, William

2017-06-01

Congenital lung abnormalities are rare malformations increasingly detected early by prenatal ultrasound. Whether management of these frequently asymptomatic lesions should be surgical or conservative is an unresolved issue. The necessary prospective studies are limited by the absence of a widely accepted practical classification system. Our aim was to develop a simple, clinically relevant system for classifying and studying congenital lung abnormalities. We based our proposed grouping on a detailed analysis of clinical, radiological, and histological data from well-documented cases, plus an extensive review of the literature. The existence of hybrid lesions and common histological findings suggested a unified embryological mechanism-possibly obstruction of developing airways with distal dysplasia. Malformations could be classified by their anatomical and pathological findings; however, a system based on the prenatal ultrasound plus initial chest X-ray findings had greater clinical relevance: Group 1-Congenital solid/cystic lung malformation, Group 2-Congenital hyperlucent lobe, Group 3-Congenital small lung. Pathological classification is academically important but is unnecessarily complex for clinical and research use. Our simple radiological-based system allows unambiguous comparison between the results of different studies and also guides the choice of necessary investigations specific to each group.

Is there a relationship between the grade of maternal hydronephrosis and birth weight of the babies?

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Coban, Soner; Biyik, Ismail; Ustunyurt, Emin; Keles, Ibrahim; Guzelsoy, Muhammed; Demirci, Hakan

2015-06-01

Mild hydronephrosis may be present in upto 90% of pregnancies. The degree of hydronephrosis was determined by maximal calyceal diameter (MCD). The aim of this study is to investigate whether there is a relationship between grade of maternal hydronephrosis and birth weight of the babies. Subjects were examined in three groups: group 1 MCD of 5-10 mm (grade I), group 2 10-15 mm (grade II) and group 3 patients >15 mm (grade III). There were 45, 30, 13 patients in the groups, respectively. Estimated fetal weight (EFW) at the time that hydronephrosis was diagnosed, birth weight and duration of pregnancy were compared. The average birth weight of the babies was not statistically different in the three groups (p > 0.05), but there was a statistically significant difference in fetal weights at the time of diagnosis (p = 0.02). The grade of maternal hydronephrosis does not affect the duration of pregnancy.

The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis

International Nuclear Information System (INIS)

Breysem, L.; Bosmans, H.; Dymarkowski, S.; Demaerel, P.; Vanbeckevoort, D.; Smet, M.; Schoubroeck, D.Van; Witters, I.; Deprest, J.; Vanhole, C.; Casaer, P.

2003-01-01

The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. (orig.)

The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis

Energy Technology Data Exchange (ETDEWEB)

Breysem, L.; Bosmans, H.; Dymarkowski, S.; Demaerel, P.; Vanbeckevoort, D.; Smet, M. [Department of Radiology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Schoubroeck, D.Van; Witters, I.; Deprest, J. [Department of Obstetrics and Gynecology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Vanhole, C.; Casaer, P. [Department of Pediatrics, University Hospitals, Herestraat 49, 3000, Leuven (Belgium)

2003-07-01

The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. (orig.)

Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations

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Chih-Ping Chen

2011-03-01

Conclusions: Prenatal diagnosis of major congenital malformations should alert one to the possibility of chromosomal abnormalities. Multiplex ligation-dependent probe amplification and aCGH have the advantage of rapid aneuploidy diagnosis of common aneuploidies in cases with major congenital malformations.

Prenatal diagnostics of congenital malformations, the most efficient way to decrease genetic consequences of Chernobyl accident; Perinatal'naya diagnostika vrozhdennykh porokov razvitiya - naibolee ehffektivnyj metod minimizatsii geneticheskikh posledstvij Chernobyl'skoj katastrofy

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Lazjuk, G I; Zatsepin, I O; Kravchuk, Zn P; Khmel, R D

2003-04-01

Long-term study of the prevalence of congenital malformations (CM) in the population of Belarus, carried out by Belarus Institute for Hereditary Diseases, showed considerably increased, from 5.6% in 1980-1985 to 7.2% in 1986-1996, frequency of the anomalies found in embryos, increased number of malformations in induced abortuses and also the growth of CM in newborns, from 5 in 1983-1985 to 7.2 in 2001, in post-Chernobyl period. The highest raise was registered in the mostly contaminated with Cs-137 areas in the first post-Chernobyl years. There are various reasons for the observed increase, but they are still not clearly understood. Nutrition imbalance (deficit of vitamins, essential amino acids and soluble selenium), physoemotional stress, hormone imbalance, alcoholism and increased level of mutations due to additional exposure of the gonads of the residents of contaminated areas of the Republic can have some impact. Positive prevalence trend of multifactorial anomalies evidences multifactorial origin of the increased prevalence of embryonal anomalies. Both, increased prevalence of CM with great contribution of dominant mutations and the peak of Down's syndrome cases, recorded in January, 1987 with maximum in Gomel region, suggest mutation component. At present, the most efficient measures to prevent the birth of malformed children are prenatal diagnostics and vitamin supplement of the couples, who plan their pregnancy, and pregnant women in the first trimester. According to the conclusion, made by WHO experts, vitamin intake can considerably reduce many CM with multifactorial origin. Positive results can be achieved only if the problem is solved by the government, when vitamins are added to flour, cereals and bread. Prenatal diagnostics with subsequent termination of pregnancy, where incurable anomalies are found, contributes greatly to the reduction of the proportion of malformed newborns, irrespective of the factors, which caused the anomalies. Thus, in Belarus

Homemade ultrasound phantom for simulation of hydronephrosis

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Ana Karine Brandao Novaes

2018-05-01

Full Text Available Abstract In this article, we describe the development of a simple and inexpensive simulation phantom as a surrogate of human hydronephrosis for the identification of urinary tract obstruction at bedside to be used in undergraduate training of medical students.

Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

DEFF Research Database (Denmark)

Winding, Louise; Loane, Maria; Wellesley, Diana

2014-01-01

). For the cases with isolated renal anomalies, 51/386 (11%) and 7/386 (2%) choose to terminate the pregnancy or resulted in an intrauterine fetal death, respectively. The prenatal detection rate was 88% in both unilateral and bilateral cases. Birth outcome differed with 92% of unilateral MCKD cases being liveborn...... MCKD are often associated with nonrenal major congenital anomalies or part of a syndrome, and only one third of bilateral MCKD cases in this study were liveborn. Prenatal detection rate of MCKD was high for both unilateral and bilateral cases. © 2014 John Wiley & Sons, Ltd....

A brief history of fetal echocardiography and its impact on the management of congenital heart disease.

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Maulik, Dev; Nanda, Navin C; Maulik, Devika; Vilchez, Gustavo

2017-12-01

Congenital heart disease (CHD), the most common congenital malformation, is associated with adverse outcome. Development of fetal echocardiography has made prenatal diagnosis of CHD a reality, and in the process revolutionized its management. This historical review briefly narrates this development over the decades focusing on the emergence of the primary modalities of fetal echocardiography comprised of the time-motion mode, two-dimensional B-mode, spectral Doppler, color Doppler, and three- and four-dimensional cardiac imaging. Collaboration between clinicians and engineers has been central to these advances. Also discussed are the accuracy and impact of fetal echocardiography on the management of CHD, and especially its role in the prenatal diagnosis of critical CHD in individualizing the management and improving the outcome. Despite these advances, most cases of CHD are not identified prenatally, emphasizing the continuing need for further technological and educational innovation and improvement. © 2017, Wiley Periodicals, Inc.

Presence of transient hydronephrosis immediately after surgery has a limited influence on renal function 1 year after ileal neobladder construction.

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Narita, Takuma; Hatakeyama, Shingo; Koie, Takuya; Hosogoe, Shogo; Matsumoto, Teppei; Soma, Osamu; Yamamoto, Hayato; Yoneyama, Tohru; Tobisawa, Yuki; Yoneyama, Takahiro; Hashimoto, Yasuhiro; Ohyama, Chikara

2017-08-31

Urinary tract obstruction and postoperative hydronephrosis are risk factor for renal function deterioration after orthotopic ileal neobladder construction. However, reports of relationship between transient hydronephrosis and renal function are limited. We assess the influence of postoperative transient hydronephrosis on renal function in patients with orthotopic ileal neobladder construction. Between January 2006 and June 2013, we performed radical cystectomy in 164 patients, and 101 received orthotopic ileal neobladder construction. This study included data available from 64 patients with 128 renal units who were enrolled retrospectively. The hydronephrosis grade of each renal unit scored 0-4. The patients were divided into 4 groups according to the grade of hydronephrosis: control, low, intermediate, and high. The grade of postoperative hydronephrosis was compared with renal function 1 month and 1 year after surgery. There were no significant differences in renal function before surgery between groups. One month after surgery, the presence of hydronephrosis was significantly associated with decreased renal function. However, 1 year after urinary diversion hydronephrosis grades were improved significantly, and renal function was comparable between groups. Postoperative hydronephrosis at 1 month had no significant influence on renal function 1 year after ileal neobladder construction. Limitations include retrospective design, short follow-up periods, and a sample composition. The presence of transient hydronephrosis immediately after surgery may have limited influence on renal function 1 year after ileal neobladder construction.

Bedside Ultrasound in the Emergency Department to Detect Hydronephrosis for the Evaluation of Suspected Ureteric Colic.

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Shrestha, R; Shakya, R M; Khan A, A

2016-01-01

Background Renal colic is a common emergency department presentation. Hydronephrosis is indirect sign of urinary obstruction which may be due to obstructing ureteric calculus and can be detected easily by bedside ultrasound with minimal training. Objective To compare the accuracy of detection of hydronephrosis performed by the emergency physician with that of radiologist's in suspected renal colic cases. Method This was a prospective observational study performed over a period of 6 months. Patients >8 years with provisional diagnosis of renal colic with both the bedside ultrasound and the formal ultrasound performed were included. Presence of hydronephrosis in both ultrasounds and size and location of ureteric stone if present in formal ultrasound was recorded. The accuracy of the emergency physician detection of hydronephrosis was determined using the scan reported by the radiologists as the "gold standard" as computed tomography was unavailable. Statistical analysis was executed using SPSS 17.0. Result Among the 111 included patients, 56.7% had ureteric stone detected in formal ultrasound. The overall sensitivity, specificity, positive predictive value and negative predictive value of bedside ultrasound performed by emergency physician for detection of hydronephrosis with that of formal ultrasound performed by radiologist was 90.8%., 78.3%, 85.5% and 85.7% respectively. Bedside ultrasound and formal ultrasound both detected hydronephrosis more often in patients with larger stones and the difference was statistically significant (p=.000). Conclusion Bedside ultrasound can be potentially used as an important tool in detecting clinically significant hydronephrosis in emergency to evaluate suspected ureteric colic. Focused training in ultrasound could greatly improve the emergency management of these patients.

Congenital malformations of pediatric surgical interest: prevalence, risk factors, and prenatal diagnosis between 2005 and 2012 in the capital city of a developing country. Bogotá, Colombia.

Science.gov (United States)

Correa, Catalina; Mallarino, Christina; Peña, Rafael; Rincón, Luis Carlos; Gracia, Gloria; Zarante, Ignacio

2014-07-01

Congenital anomalies (CAs) cause nearly one third of infant deaths worldwide. Various surveillance systems have been established, such as the Bogota Congenital Malformations Surveillance Program (BCMSP). Some CAs are of special interest to pediatric surgeons: omphalocele, gastroschisis, intestinal and esophageal atresia, anorectal malformations, vascular anomalies, diaphragmatic hernias, hypospadias and cryptorchidism. The aim of this study is to determine the prevalence of such CAs, and identify possible risk factors. Data from the BCMSP were collected between January 2005 and April 2012. CAs were classified in accordance with the ICD-10 and grouped for analysis purposes. Data on CA frequencies were obtained from the BCMSP. Association analyses were performed using the case-control methodology. 282,523 births were registered. 4682 (1.66%) had one or more CAs at birth. The prevalence of CAs requiring pediatric surgery was 1 in 1000. The most frequent CAs were vascular anomalies, hypospadias, and anorectal malformations. Exposure to external factors was significantly associated with selected CAs. 51% of selected birth defects were not diagnosed in prenatal ultrasound. This study highlights the importance of evaluating the local prevalence of congenital malformations. We propose the creation of specialized centers in Bogota to manage patients with CAs. Copyright © 2014 Elsevier Inc. All rights reserved.

Congenital Hepatic Cyst

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Aldo Recinos

2017-04-01

Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

DEFF Research Database (Denmark)

Boyd, Patricia Anne; Loane, Maria; Garne, Ester

2011-01-01

This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries ...

Evaluation of recovery in hydronephrosis using renal functional CT studies

International Nuclear Information System (INIS)

Watanabe, Kiyotaka

1985-01-01

Using renal functional CT studies, we studied 22 patients who underwent surgical treatment for unilateral hydronephrosis. The tissue-plasma ratio of contrast enhancement (TPR), which is an indicator of renal function per unit of parenchymal volume, improved after the operation. On the other hand, the renal parenchymal volume (PV) decreased in proportion to the shrinkage of the kidney. The pre and postoperative values of renal functional index (RFI), the product of the TPR and PV, showed a good correlation (r=0.928, p<0.01). Therefore, RFI values were found to be useful for assessing the recovery of hydronephrosis. (author)

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

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David Neubauer

2001-07-01

Full Text Available Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy.Conclusions. The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care.

The clinical implications of hydronephrosis and the level of ureteral obstruction in stage IIIB cervical cancer

International Nuclear Information System (INIS)

Chao, K.S. Clifford; Leung, W.-M.; Grigsby, Perry W.; Mutch, David G.; Herzog, Thomas; Perez, Carlos A.

1998-01-01

Purpose: There are two criteria for the diagnosis of Stage IIIB cervical cancer in the FIGO staging system: tumor fixation to the pelvic side wall and/or the presence of hydronephrosis due to tumor. However, we often encounter hydronephrosis without tumor fixed to the pelvic side wall or the level of ureteral obstruction not corresponding to the main tumor mass in the pelvis. The clinical implication of these phenomena remains unclear. We investigated the Stage IIIB population treated at the Mallinckrodt Institute of Radiology and hypothesized that, if hydronephrosis presents without tumor fixation to the pelvic side wall or if the level of ureteral obstruction is above the main pelvic tumor mass, it most likely resulted from external compression of ureter(s) by enlarged lymph nodes and, consequently, a worse outcome is expected. Methods and Materials: From 1959 to 1989, there were 297 patients with Stage IIIB cervical cancer who received definitive radiation therapy at the Mallinckrodt Institute of Radiology and were assessable for the presence of hydronephrosis and the level of ureteral obstruction. There were 281 patients who presented with tumor fixed to the pelvic side wall, and 62 of them were associated with concurrent hydronephrosis. An additional 16 patients presented with hydronephrosis without tumor fixation to the pelvic side wall. Among these 78 documented cases of hydronephrosis, the level of ureteral obstruction was above the true pelvis in 39 patients, and below the true pelvis in the other 39. Radiation therapy was individualized according to tumor extension and configuration; para-aortic lymph nodes were not routinely treated except in patients with clinical evidence of nodal metastasis. Results: The progression-free survival (PFS) at 5 years was 35% in 62 patients with hydronephrosis and tumor fixed to the pelvic side wall vs. 43% in 213 patients with tumor fixed to the pelvic side wall only (p 0.12). However, PFS at 5 years decreased to 23% in

Congenital abnormalities in newborns of consanguineous and nonconsanguineous parents.

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Naderi, S

1979-02-01

The aim of this study was to determine the types, patterns, and frequencies of congenital anomalies among newborns of both consanguineous and nonconsanguineous parents in southern Iran. From 9526 consecutive pregnancies observed, 9623 newborns resulted (9431 singleton and 95 sets of multiple gestation). There were 7261 newborns from nonconsanguineous parents and 2362 (24.5%) babies from consanguineous marriages. Of the total pregnancies, 1.54% resulted in malformed children (1.53% of singleton and 2.1% of multiple gestations). The incidence of congenital abnormalities in newborns of nonconsanguineous parents was 1.66% as compared to 4.02% for newborns of the consanguineous group. Major and multiple malformations were found to be slightly more common in the consanguinous group. Prematurity, prenatal mortality rate, and congenital abnormalities were more common in the consanguineous group. Probably the closer the familial relationship of the parents, the greater the chances of congenital abnormalities.

A study of the indication for conservative surgery in adult hydronephrosis based on presurgery post-contrast computed tomography (CT) finding

International Nuclear Information System (INIS)

Kawai, Noriyasu; Tsugaya, Masayuki; Sakagami, Hiroshi; Sasaki, Shoichi; Kohri, Kenjiro

1997-01-01

The cases with adult hydronephrosis are usually performed either conservative surgery or nephrectomy according to the grade of residual renal function. The residual renal function of adult hydronephrosis are usually suspected with analysis of concentration and/or clearance of the renal urine content after percutaneous nephrostomy. However, percutaneous nephrostomy is invasive and risky. On the other hand, post-contrast computed tomography (CT) is non-invasive. We studied whether post-contrast CT is available for the assessment of residual renal function of adult hydronephrosis and also studied the indication for conservative surgery of adult hydronephrosis on post-contrast CT. Conservative surgery or nephrectomy was performed in 14 patients with adult hydronephrosis in the duration from April, 1986 to March, 1995. All of 14 patients (14 kidneys) hydronephrosis were retrospectively studied of the character in the indication for conservative surgery by post-contrast CT before surgery. The indication for conservative surgery of adult hydronephrosis on post-contrast CT are well enhanced renal parenchyma exist round the kidney, even if it is very thin, and excretion of contrast medium to renal calyx are showed. It was concluded that post-contrast CT might be useful for the assessment of residual renal function of adult hydronephrosis. (author)

[Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].

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Rostol'tsev, K V; Burenkov, R A; Kuz'micheva, I A

2012-01-01

Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.

Congenital heart defects: the 10-year experience at a single center.

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Aydin, Emine; Aypar, Ebru; Oktem, Ahmet; Ozyuncu, Ozgur; Yurdakok, Murat; Guvener, Murat; Demircin, Metin; Beksac, M Sinan

2018-06-18

We aimed to evaluate congenital heart disease (CHD) cases according to EUROCAT subgroup classification that were diagnosed during the prenatal period in our center. CHDs that were prenatally diagnosed using ultrasonography and confirmed by fetal echocardiography were reviewed over a 10-year period. Subgroup classification was finalized at the post-partum period in terms of the EUROCAT guide 1.3. Congenital heart defect subtypes and obstetric outcomes (gestational week at delivery, birth weight, gender, extracardiac structural abnormalities, karyotype results if performed) were analyzed. The data of 180 cases with CHD was examined. Left ventricular outflow tract obstruction (LVOT) was the most common CHD subtype (57/180; 31.6%), which included 48, five, and four cases of hypoplastic left heart syndrome (HLHS), coarctation of the aorta, and aortic valve atresia/stenosis, respectively. Eighteen pregnancies were terminated; the most common CHD subtype among patients of terminated pregnancies was hypoplastic left heart syndrome (HLHS) (n = 7, 38.8%). The most common extracardiac malformations were a single umbilical artery, esophageal atresia, and situs inversus in our study group. Eighteen of the 96 (18.75%) neonates with CHD died during the neonatal period. The most common CHD subtype was HLHS (7/18; 38%) among the newborns who died after birth. Prenatal diagnosis of a CHD and subgroup classification is very important for clinical decision making, including prenatal management, recommendations for termination of the pregnancy, postnatal management of the patient, and for early referral to pediatric cardiology and cardiovascular surgery centers.

Noninvasive Assessment of Antenatal Hydronephrosis in Mice Reveals a Critical Role for Robo2 in Maintaining Anti-Reflux Mechanism

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Wang, Hang; Li, Qinggang; Liu, Juan; Mendelsohn, Cathy; Salant, David J.; Lu, Weining

2011-01-01

Antenatal hydronephrosis and vesicoureteral reflux (VUR) are common renal tract birth defects. We recently showed that disruption of the Robo2 gene is associated with VUR in humans and antenatal hydronephrosis in knockout mice. However, the natural history, causal relationship and developmental origins of these clinical conditions remain largely unclear. Although the hydronephrosis phenotype in Robo2 knockout mice has been attributed to the coexistence of ureteral reflux and obstruction in the same mice, this hypothesis has not been tested experimentally. Here we used noninvasive high-resolution micro-ultrasonography and pathological analysis to follow the progression of antenatal hydronephrosis in individual Robo2-deficient mice from embryo to adulthood. We found that hydronephrosis progressed continuously after birth with no spontaneous resolution. With the use of a microbubble ultrasound contrast agent and ultrasound-guided percutaneous aspiration, we demonstrated that antenatal hydronephrosis in Robo2-deficient mice is caused by high-grade VUR resulting from a dilated and incompetent ureterovesical junction rather than ureteral obstruction. We further documented Robo2 expression around the developing ureterovesical junction and identified early dilatation of ureteral orifice structures as a potential fetal origin of antenatal hydronephrosis and VUR. Our results thus demonstrate that Robo2 is crucial for the formation of a normal ureteral orifice and for the maintenance of an effective anti-reflux mechanism. This study also establishes a reproducible genetic mouse model of progressive antenatal hydronephrosis and primary high-grade VUR. PMID:21949750

Nasal glial heterotopia or congenital hemangioma? A case report.

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Lartizien, R; Durand, C; Blaise, S; Morand, B

2017-10-01

Nasal glial heterotopia (NGH) is a rare benign tumor of the median line. We describe the case of a child presenting a lateral nasal mass. The characteristics of the prenatal ultrasound and the postnatal clinical examination argued in favor of a congenital hemangioma (CH). The MRI performed at 6 weeks of life suggested glial heterotopia. This diagnosis was confirmed by the pathological analysis. Congenital hemangiomas and nasal glial heterotopies have similar clinical presentations. Prenatal ultrasound diagnosis between NGH and CH is difficult. Fetal MRI is not yet highly specific for these two lesions, but it can eliminate an intracerebral connection in cases of NGH. Postnatal exams are more specific. Flow on the Doppler exam is rapid for CH and slow for NGH. On MRI, these two lesions appear as a hypersignal on T2-weighted sequences, but less intense for NGH than for CH. Distinguishing between NGH and CH can be difficult. This does not have a direct incidence on treatment because it is surgical in both cases. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele

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Sanhal, Cem Y; Tokmak, Aytekin; Müftüoglu, Kamil H; Danisman, Nuri

2015-01-01

Tectocerebellar dysraphia (TCD) is an extremely rare disorder and comprises the congenital abnormalities including occipital encephalocele, aplasia and/or hypoplasia of cerebellar vermis and deformity of tectum. Only few reported cases of this entity are there in the literature. However, the diagnosis in each of the previous cases had been made after birth. We herein describe the first reported case of prenatal diagnosis for TCD in a Turkish woman. PMID:26816952

Prenatal diagnosis of Caudal Regression Syndrome : a case report

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Celikaslan Nurgul

2001-12-01

Full Text Available Abstract Background Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Case presentation We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis. Conclusion Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.

Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis

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Theofanakis, Charalampos; Theodora, Marianna; Sindos, Michail; Daskalakis, George

2017-01-01

Abstract Rationale: Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently. Patient concerns: We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation. Diagnoses: To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. Interventions: The final diagnosis is confirmed with radiological examination after the termination of pregnancy. Outcomes: Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. Lessons: The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field. PMID:29390297

Prenatal genetic counseling: future parents prefer to make decisions together, using professional advice.

NARCIS (Netherlands)

Martin, L.; Dulmen, S. van; Spelten, E.; Hutton, E.

2012-01-01

OBJECTIVES: Counseling about prenatal testing for congenital abnormalities has become an increasing part of obstetric care in the Netherlands (Wiegers and Hingstman, 2008). During the past decade many changes have taken place in medical-technical and social-cultural areas as well as in health care

Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

NARCIS (Netherlands)

Garne, E

Aim. To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations. Methods. Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six

Bird's Nest Filter Causing Symptomatic Hydronephrosis Following Transmural Penetration of the Inferior Vena Cava

International Nuclear Information System (INIS)

Stacey, C.S.; Manhire, A.R.; Rose, D.H.; Bishop, M.C.

2004-01-01

We report a case of symptomatic hydronephrosis caused by transcaval penetration of a Bird's Nest filter. Perforation of the wall of the inferior vena cava (IVC) following insertion of a caval filter is a well-recognized complication. Whilst two cases of hydronephrosis have been described with Greenfield filters, no case involving a Bird's Nest filter has been reported previously

Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformations: Evolution and Outcome

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Wei-Shiu Chen

2009-09-01

Conclusion: The outcomes of the prenatally detected CCAMs were good in our cases. If the CCAM is not complicated by hydrops fetalis, maintaining the pregnancy with continuing management seems to be a reasonable recommendation. Despite antenatal resolution of CCAM on ultrasound, postnatal examination with chest radiography and computed tomography scan is necessary.

Fetal hydronephrosis: is there hope for consensus?

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Toiviainen-Salo, Sanna; Dubois, Josee; Rypens, Francoise; Boisvert, Jacques; Perreault, Gilles; Decarie, Jean Claude; Filiatrault, Denis; Lapierre, Chantale; Miron, Marie-Claude; Bechard, Nancy [Department of Medical Imaging, Hopital Ste-Justine, 3175 Cote Ste-Catherine, H3T 1C5, Montreal, Quebec (Canada); Garel, Laurent; Grignon, Andree [Department of Medical Imaging, Hopital Ste-Justine, 3175 Cote Ste-Catherine, H3T 1C5, Montreal, Quebec (Canada); Department of Radiology, Universite de Montreal, 3175 Cote Ste-Catherine, H3T 1C5, Montreal, Quebec (Canada)

2004-07-01

This review article aims at summarizing the data regarding fetal and neonatal hydronephrosis, at correlating controversial data with the differences in the practice of obstetrical sonography from one country to another, and finally, at presenting our own criteria for fetal renal collecting system dilatation along with our own guidelines of postnatal investigation. (orig.)

Effect of provider experience on clinician-performed ultrasonography for hydronephrosis in patients with suspected renal colic.

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Herbst, Meghan K; Rosenberg, Graeme; Daniels, Brock; Gross, Cary P; Singh, Dinesh; Molinaro, Annette M; Luty, Seth; Moore, Christopher L

2014-09-01

Hydronephrosis is readily visible on ultrasonography and is a strong predictor of ureteral stones, but ultrasonography is a user-dependent technology and the test characteristics of clinician-performed ultrasonography for hydronephrosis are incompletely characterized, as is the effect of ultrasound fellowship training on predictive accuracy. We seek to determine the test characteristics of ultrasonography for detecting hydronephrosis when performed by clinicians with a wide range of experience under conditions of direct patient care. This was a prospective study of patients presenting to an academic medical center emergency department with suspected renal colic. Before computed tomography (CT) results, an emergency clinician performed bedside ultrasonography, recording the presence and degree of hydronephrosis. CT data were abstracted from the dictated radiology report by an investigator blinded to the bedside ultrasonographic results. Test characteristics of bedside ultrasonography for hydronephrosis were calculated with the CT scan as the reference standard, with test characteristics compared by clinician experience stratified into 4 levels: attending physicians with emergency ultrasound fellowship training, attending physicians without emergency ultrasound fellowship training, ultrasound experienced non-attending physician clinicians (at least 2 weeks of ultrasound training), and ultrasound inexperienced non-attending physician clinicians (physician assistants, nurse practitioners, off-service rotators, and first-year emergency medicine residents with fewer than 2 weeks of ultrasound training). There were 670 interpretable bedside ultrasonographic tests performed by 144 unique clinicians, 80.9% of which were performed by clinicians directly involved in the care of the patient. On CT, 47.5% of all subjects had hydronephrosis and 47.0% had a ureteral stone. Among all clinicians, ultrasonography had a sensitivity of 72.6% (95% confidence interval [CI] 65.4% to 78

Biomarkers and echocardiography for evaluating the improvement of the ventricular diastolic function after surgical relief of hydronephrosis.

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Yeh, Huei-Ming; Lin, Ting-Tse; Yeh, Chih-Fan; Huang, Ho-Shiang; Chang, Sheng-Nan; Lin, Jou-Wei; Tsai, Chia-Ti; Lai, Ling-Ping; Huang, Yi-You; Chu, Chun-Lin

2017-01-01

The pathophysiology of cardio-renal syndrome (CRS) is complex. Hydronephrosis caused by urolithiasis may cause cytokine release and lead to cardiac dysfunction. The aim of this study was to evaluate cardiac function changes observed in patients who received double J placement using feasible biomarkers and echocardiography. This was a prospective, single-center study. Eighty-seven patients who presented with acute unilateral hydronephrosis and received ureteroscope stone manipulation were enrolled. Echocardiography and cytokines were measured on the day of the operation and 24 hours after the procedure. Changes before and after surgery were assessed by the paired t-test and Wilcoxon test. Correlation analyses between echocardiographic diastolic indices and cytokine levels were performed using Pearson's correlation coefficients. Patients with hydronephrosis showed a higher left atrium volume index (LAVI), decreased E', and increased E/ E' ratio, which indicated diastolic dysfunction. Patients with hydronephrosis also exhibited decreased global strain rates during isovolumetric relaxation (SRIVR) and E/ SRIVR, which confirmed the diastolic dysfunction. Significant reductions in LAVI, increases in SRIVR and decreases in E/ SRIVR were observed after the operation. Biomarkers, such as TGF-β and serum NT-proBNP, were significantly decreased after surgery. In addition, a significant correlation was observed between the post-surgical decrease in TGF-β1 and increase in SRIVR. Unilateral hydronephrosis causes cardiac diastolic dysfunction, and relieving hydronephrosis could improve diastolic function. Improvements in cardiac dysfunction can be evaluated by echocardiography and measuring cytokine levels. The results of this study will inform efforts to improve the early diagnosis of CRS and prevent further deterioration of cardiac function when treating patients with hydronephrosis.

Ultrasonographi assessment of congenital adrenal masses

International Nuclear Information System (INIS)

Muro Velilla, D.; Sanguesa, C.; Alberto, C.; Lopez, A., Benlloch, C.

1996-01-01

The demonstrate the utility of ultrasound (US) in the initial assessment and follow-up of newborns with adrenal masses. A series of 21 newborns presenting adrenal mass studied on the basis of US findings, clinical assessment and biochemical data. Seven patients had congenital neuroblastoma, two had a benign tumor and twelve presented adrenal hemorrhage. Postnatal US study of the course of these patients is essential for the differential diagnosis of their lesions when not diagnosed prenatally. (Author) 20 refs

Norrie disease: first mutation report and prenatal diagnosis in an Indian family.

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Ghosh, Manju; Sharma, Shipra; Shastri, Shivaram; Arora, Sadhna; Shukla, Rashmi; Gupta, Neerja; Deka, Deepika; Kabra, Madhulika

2012-11-01

Norrie Disease (ND) is a rare X-linked recessive disorder characterised by congenital blindness due to severe retinal dysgenesis. Hearing loss and intellectual disability is present in 30-50 % cases. ND is caused by mutations in the NDP gene, located at Xp11.3. The authors describe mutation analysis of a proband with ND and subsequently prenatal diagnosis. Sequence analysis of the NDP gene revealed a hemizygous missense mutation arginine to serine in codon 41 (p.Arg41Ser) in the affected child. Mother was carrier for the mutation. In a subsequent di-chorionic di-amniotic pregnancy, the authors performed prenatal diagnosis by mutation analysis on chorionic villi sample at 11 wk of gestation. The fetuses were unaffected. This is a first mutation report and prenatal diagnosis of a familial case of Norrie disease from India. The importance of genetic testing of Norrie disease for confirmation, carrier testing, prenatal diagnosis and genetic counseling is emphasized.

Prenatal screening: current practice, new developments, ethical challenges.

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de Jong, Antina; Maya, Idit; van Lith, Jan M M

2015-01-01

Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. © 2014 John Wiley & Sons Ltd.

Delayed Presentation of Ureteropelvic Junction Obstruction and Loss of Renal Function After Initially Mild (SFU Grade 1-2) Hydronephrosis.

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Bowen, Diana K; Yerkes, Elizabeth B; Lindgren, Bruce W; Gong, Edward M; Faasse, Mark A

2015-07-01

We report 4 pediatric cases of ureteropelvic junction obstruction involving delayed progression of initially mild postnatal hydronephrosis. All 4 children became symptomatic; however, 3 already had a substantial decrement of ipsilateral kidney function by the time of diagnosis. Two of these 3 patients had previous renal scintigraphy demonstrating normal differential function. We caution that counseling regarding hydronephrosis should emphasize the importance of prompt re-evaluation for any symptoms potentially referable to delayed presentation of ureteropelvic junction obstruction, irrespective of initial hydronephrosis grade. Future studies are needed to determine the optimal follow-up regimen for conservative management of hydronephrosis. Copyright © 2015 Elsevier Inc. All rights reserved.

A pilot study using residual newborn dried blood spots to assess the potential role of cytomegalovirus and Toxoplasma gondii in the etiology of congenital hydrocephalus.

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Simeone, Regina M; Rasmussen, Sonja A; Mei, Joanne V; Dollard, Sheila C; Frias, Jaime L; Shaw, Gary M; Canfield, Mark A; Meyer, Robert E; Jones, Jeffrey L; Lorey, Fred; Honein, Margaret A

2013-07-01

Congenital hydrocephalus is a condition characterized by accumulation of cerebrospinal fluid in the ventricles of the brain. Prenatal infections are risk factors for some birth defects. This pilot study investigated whether residual dried blood spots (DBS) could be used to assess infections as risk factors for birth defects by examining the associations between prenatal infection with Toxoplasma gondii (T. gondii) or cytomegalovirus (CMV) with congenital hydrocephalus. Case-infants with hydrocephalus (N=410) were identified among live-born infants using birth defects surveillance systems in California, North Carolina, and Texas. Control-infants without birth defects were randomly selected from the same geographic areas and time periods as case-infants (N=448). We tested residual DBS from case- and control-infants for T. gondii immunoglobulin M and CMV DNA. When possible, we calculated crude odds ratios (cORs) and confidence intervals (CIs). Evidence for prenatal T. gondii infection was more common among case-infants (1.2%) than control-infants (0%; p=0.11), and evidence for prenatal CMV infection was higher among case-infants (1.5%) than control-infants (0.7%; cOR: 2.3; 95% CI: 0.48, 13.99). Prenatal infections with T. gondii and CMV occurred more often among infants with congenital hydrocephalus than control-infants, although differences were not statistically significant. This pilot study highlighted some challenges in using DBS to examine associations between certain infections and birth defects, particularly related to reduced sensitivity and specimen storage conditions. Further study with increased numbers of specimens and higher quality specimens should be considered to understand better the contribution of these infections to the occurrence of congenital hydrocephalus. Copyright © 2013 Wiley Periodicals, Inc.

Serious neonatal airway obstruction with massive congenital sublingual ranula and contralateral occurrence

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Manish M. George

2015-06-01

Conclusions: The prenatal diagnosis of congenital ranulas have been seldom reported, with no reported cases of contralateral occurrence and airway obstruction from an intraoral ranula. This rare case highlights the need for a well considered contingency plan when surgery is required for a neonatal airway at risk.

High-Grade Hydronephrosis Predicts Poor Outcomes After Radical Cystectomy in Patients with Bladder Cancer

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Kim, Dong Suk; Cho, Kang Su; Lee, Young Hoon; Cho, Nam Hoon; Oh, Young Taek; Hong, Sung Joon

2010-01-01

We examined whether the presence and severity of preoperative hydronephrosis have prognostic significance in patients who underwent radical cystectomy for transitional cell carcinoma of the bladder. The medical records of 457 patients who underwent radical cystectomy for bladder cancer between 1986 and 2005 were retrospectively reviewed. Following the Society for Fetal Urology grading system, patients were divided into low-, and high-grade hydronephrosis groups. Clinicopathologic factors asso...

Anterior urethral valves: not such a benign condition…

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Omar eCruz-Diaz

2013-11-01

Full Text Available Purpose: Anterior urethral valves (AUV is an unusual cause of congenital obstruction of the male urethra, being 15 to 30 times less common than posterior urethral valves (PUV. It has been suggested that patients with congenital anterior urethral obstruction have a better prognosis than those with PUV.The long term prognosis of anterior urethral valves is not clear in the literature. In this report we describe our experience and long-term follow up of patients with AUV.Materials and methods: We retrospectively identified 13 patients who presented with the diagnosis of AUV in our institutions between 1994 and 2012. From the 11 patients included, we evaluated the gestational age, ultrasound and voiding cystourethrogram findings, age upon valve ablation, micturition pattern, creatinine and clinical follow up.Results: Between 1994 and 2012 we evaluated 150 patients with the diagnosis of urethral valves, where 11 patients (7.3% had AUV and an adequate follow up. Mean follow up is 6.3 years. 5 patients (45.4% had pre-natal diagnosis of AUV. The most common prenatal ultrasonographic finding was bilateral hydronephrosis and distended bladder.The mean gestational age was 37.6 weeks. Postnatally, 90% had trabeculated bladder, 80% hydronephrosis and 40% renal dysplasia. The most common clinical presentation was urinary tract infection in 5 patients (45.4%.7 patients (63.6% had primary transurethral valve resection or laser ablation and 3 patients (27.2% had primary vesicostomies. One boy (9.1% had urethrostomy with urethral diverticulum excision. 2 patients (18.2% developed end-stage renal disease (ESRD.Conclusions: Early urinary tract obstruction resulted in ESRD in 18% of our patient population. In our series, the complication rate and the evolution to renal failure are high and similar to patients with PUV. In patients with AUV we recommend long-term follow up and close evaluation of patient’s bladder and renal function.

Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.

Science.gov (United States)

van der Linden, Vanessa; Pessoa, André; Dobyns, William; Barkovich, A James; Júnior, Hélio van der Linden; Filho, Epitacio Leite Rolim; Ribeiro, Erlane Marques; Leal, Mariana de Carvalho; Coimbra, Pablo Picasso de Araújo; Aragão, Maria de Fátima Viana Vasco; Verçosa, Islane; Ventura, Camila; Ramos, Regina Coeli; Cruz, Danielle Di Cavalcanti Sousa; Cordeiro, Marli Tenório; Mota, Vivian Maria Ribeiro; Dott, Mary; Hillard, Christina; Moore, Cynthia A

2016-12-02

Congenital Zika virus infection can cause microcephaly and severe brain abnormalities (1). Congenital Zika syndrome comprises a spectrum of clinical features (2); however, as is the case with most newly recognized teratogens, the earliest documented clinical presentation is expected to be the most severe. Initial descriptions of the effects of in utero Zika virus infection centered prominently on the finding of congenital microcephaly (3). To assess the possibility of clinical presentations that do not include congenital microcephaly, a retrospective assessment of 13 infants from the Brazilian states of Pernambuco and Ceará with normal head size at birth and laboratory evidence of congenital Zika virus infection was conducted. All infants had brain abnormalities on neuroimaging consistent with congenital Zika syndrome, including decreased brain volume, ventriculomegaly, subcortical calcifications, and cortical malformations. The earliest evaluation occurred on the second day of life. Among all infants, head growth was documented to have decelerated as early as 5 months of age, and 11 infants had microcephaly. These findings provide evidence that among infants with prenatal exposure to Zika virus, the absence of microcephaly at birth does not exclude congenital Zika virus infection or the presence of Zika-related brain and other abnormalities. These findings support the recommendation for comprehensive medical and developmental follow-up of infants exposed to Zika virus prenatally. Early neuroimaging might identify brain abnormalities related to congenital Zika infection even among infants with a normal head circumference (4).

Size of the unaffected kidney in children with unilateral hydronephrosis

International Nuclear Information System (INIS)

Miler, M.; Mortensson, W.

1980-01-01

Children with unilateral hydronephrosis, but without evidently decreased excretion of urographic contrast medium, generally had enlargement of the unaffected mate kidney, indicating reduced function of the hydronephrotic kidney. (Auth.)

Is voiding cystourethrogram necessary in all cases of antenatal hydronephrosis?

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M S Ansari

2009-01-01

Full Text Available Hydronephrosis is the most common genitourinary anomaly as detected on obstetric ultrasonography and the incidence of associated vesicoureteral reflux is around 10-12%. There is inconsistency in the literature regarding which child should under go a voiding cystourethrogram (VCUG in cases of antenatal hydronephrosis (AHN. Besides, there is a scarcity of prospective studies to demonstrate the risk of varying degree of AHN, associated reflux and their long-term impact on the kidneys. The present analysis suggests that children with AHN should undergo an ultrasound within the first month of life and further course of action should be decided on the basis of the individual case. Children with persistent moderate to severe AHN should undergo a VCUG and a functional study.

The Comparison of Double J Stent Insertion and Conservative Treatment Alone in Severe Pure Gestational Hydronephrosis: A Case Controlled Clinical Study

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Çeçen, Kürşat; Ülker, Kahraman

2014-01-01

Objective. Management options of gestational hydronephrosis are based on the coexisting stone disease, pyelonephritis, and renal disease. However, the management option and its consequences in the absence of a coexisting disease state are not clear. In this study we aimed to compare the effectiveness of conservative treatment and double J insertion in symptomatic pure gestational hydronephrosis. Material and Methods. The data of the women with severe pure gestational hydronephrosis over a nine-year period was collected retrospectively. The included women were grouped into two according to receiving double J stent insertion or conservative treatments. Results. Double J insertion and conservative treatment groups included 24 and 29 women, respectively. Hydronephrosis was demonstrated on the right, left, or both kidneys in 37 (70%), 13 (24%), and 3 (6%) women, respectively. None of the participants gave birth prior to the 37th week. The demographics, initial pain scores, the severity of the hydronephrosis during first admission, and pain scores one week after the interventions did not differ significantly between groups (P > 0.05). Similarly, the rates of complications, postpartum pain scores, and permanent hydronephrosis did not differ between groups (P > 0.05). Conclusion. Double J insertion in symptomatic pure gestational hydronephrosis adds no benefit to conservative treatment. PMID:24574939

The Comparison of Double J Stent Insertion and Conservative Treatment Alone in Severe Pure Gestational Hydronephrosis: A Case Controlled Clinical Study

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Kürşat Çeçen

2014-01-01

Full Text Available Objective. Management options of gestational hydronephrosis are based on the coexisting stone disease, pyelonephritis, and renal disease. However, the management option and its consequences in the absence of a coexisting disease state are not clear. In this study we aimed to compare the effectiveness of conservative treatment and double J insertion in symptomatic pure gestational hydronephrosis. Material and Methods. The data of the women with severe pure gestational hydronephrosis over a nine-year period was collected retrospectively. The included women were grouped into two according to receiving double J stent insertion or conservative treatments. Results. Double J insertion and conservative treatment groups included 24 and 29 women, respectively. Hydronephrosis was demonstrated on the right, left, or both kidneys in 37 (70%, 13 (24%, and 3 (6% women, respectively. None of the participants gave birth prior to the 37th week. The demographics, initial pain scores, the severity of the hydronephrosis during first admission, and pain scores one week after the interventions did not differ significantly between groups (P>0.05. Similarly, the rates of complications, postpartum pain scores, and permanent hydronephrosis did not differ between groups (P>0.05. Conclusion. Double J insertion in symptomatic pure gestational hydronephrosis adds no benefit to conservative treatment.

Prenatal diagnosis of Cantrell's pentalogy with conventional and three-dimensional sonography.

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León, G; Chedraui, P; San Miguel, G

2002-09-01

Omphaloceles and gastroschisis are the most common defects of the fetal anterior abdominal wall. The association of an omphalocele with an anterior thoracic wall defect could result from a variety of congenital syndromes of which Cantrell's pentalogy is the most common. For proper surgical scheduling of the neonate, early diagnosis of each of the components of this syndrome is important. The presence of a congenital intracardiac anomaly is the best predictor of neonatal mortality. We present a case of Cantrell's pentalogy diagnosed prenatally with conventional and three-dimensional sonographic imaging, and confirmed at birth. We discuss this case and the reports in the world literature.

Giant hydronephrosis in a case of ureterocele with duplex system: an entity yet not reported.

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Aeron, Ruchir; Sokhal, Ashok Kumar; Kumar, Manoj; Sankhwar, Satyanarayan

2017-08-10

Ureterocele, which is a cystic dilatation of the terminal ureter, is usually associated with the upper moiety in a case of the duplex system. Giant hydronephrosis, a rare entity, is usually due to pelviureteric junction obstruction and is usually diagnosed in infants and children. We report a unique case of a unilateral complete duplex system with ureterocele with giant hydronephrosis of the upper moiety in an adult woman presenting as an abdominal lump. To the best of our knowledge, this is the first case of giant hydronephrosis associated with ureterocele in an adult patient. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Congenital cystic lung malformations

International Nuclear Information System (INIS)

Stoever, B.; Scheer, I.; Bassir, C.; Chaoui, R.; Henrich, W.; Schwabe, M.; Wauer, R.

2006-01-01

Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

Congenital Adrenal Hyperplasia: Unresolved Issues.

Science.gov (United States)

Yau, Mabel; Khattab, Ahmed; Poppas, Dix; Ghizzoni, Lucia; New, Maria

2016-01-01

Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular genetic analysis is used to confirm the hormonal diagnosis. A high rate of genotype-phenotype disconcordance has been found in 21-hydroxylase deficiency. The goal of treatment is to replace with synthetic glucocorticoids and mineralocorticoids and suppress adrenal androgen production. The treatment of patients affected with nonclassical CAH, particularly males, remains controversial. Variable synthetic glucocorticoids are used and new modes of glucocorticoid delivery are under investigation. To improve height, growth hormone and other adjuvant therapies are employed. Long-term outcomes of genital surgery using modern techniques in females affected with classical CAH continue to be investigated. Prenatal treatment with dexamethasone is available to avoid ambiguous genitalia in these females. Although studies have shown its safety to mother and fetus, prenatal treatment is still regarded as experimental. Currently, prenatal diagnosis of CAH can only be obtained through invasive methods. Recently, the detection of cell-free fetal DNA in maternal plasma has made it possible to make this diagnosis earlier and noninvasively. © 2016 S. Karger AG, Basel.

Renal Artery Embolization - A First Line Treatment Option For End-Stage Hydronephrosis

International Nuclear Information System (INIS)

Mitra, Kakali; Prabhudesai, Vikramaditya; James, R. Lester; Jones, Robert W. A.; French, Michael E.; Cowling, Mark; West, David J.

2004-01-01

Conventionally poorly functioning hydronephrotic kidneys have been removed if they are symptomatic. In our unit, patients are offered renal artery embolization as an alternative treatment option. Patients and Methods: Fifteen patients (11 male, 4 female) with a mean age of 32.9 yr (20-51 yrs) have undergone renal artery embolization for symptomatic hydronephrosis with poor function. Mean follow-up was 64.13 weeks (range 14-200). All patients had loin pain and hydronephrosis. Twelve patients had primary pelvi-ureteric junction obstruction (PUJO). Two patients had poorly functioning hydronephrotic kidneys secondary to chronic calculous obstruction. One patient had chronic pain in an obstructed but reasonably functioning kidney following a previous pyeloplasty for PUJO which demanded intervention. Mean split function on renography was 11% (range 0-46%). Selective renal artery embolization was carried out under antibiotic cover using a 7 Fr balloon occlusion catheter and absolute alcohol, steel coils, and polyvinyl alcohol particles.Results: Nine patients developed post-embolization syndrome of self-limiting pain and pyrexia with no evidence of sepsis. One patient required readmission with this condition. One patient developed a hematoma at the puncture site. Mean hospital stay was 2.3 days. Fourteen patients are happy with the result and are completely pain free. One patient has minor discomfort but is delighted with the result. Nine patients have had follow-up ultrasound confirming resolution of the hydronephrosis. Conclusion: Renal artery embolization is an effective, safe, well-tolerated minimally invasive treatment option in end-stage hydronephrosis and we routinely offer it as an alternative to nephrectomy

[Monitoring of pregnancies exposed to drugs in France: the experience of the registries of congenital malformations].

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Doray, Bérénice

2014-01-01

Registries of congenital malformations were implemented in many industrialized countries following the drama of thalidomide. In 2013, four French registries of congenital malformations in France provide the systematic epidemiological surveillance of birth defects. All are part of international networks of registries, especially European surveillance of congenital anomalies (EUROCAT). If the development of prevention actions including prenatal diagnosis has gradually led the registries to play a key role of assessment on the impact of public health policies, one of the major roles of registries of congenital malformations remains early detection of clusters of malformations secondary to teratogenic effects. © 2014 Société Française de Pharmacologie et de Thérapeutique.

Slight Hydronephrosis in Newborns and Breast-fed Infants: Can the Presence of Vesicoureteral Reflux Be Predicted?

International Nuclear Information System (INIS)

Berrocal, T.; Pablo, T. de; Gutierrez, J.; Prieto, C.; Hoyo, M. L. del

2003-01-01

The purpose of this study was to determine the value of slight-to moderate echo graphically detected hydronephrosis in newborns and breast-fed infants that might serve as indicator for Vesicoureteral reflux (VUR), and to evaluate the necessity of performing micturating cystourethrougraphy (MCUG) in these patients. There were reviewed MCUG of 237 patients (174 boys and 63 girls between the ages of 0 and 18 months) with slight echo graphically detected hydronephrosis in order to evaluate the presence of primary VUR. Patients with secondary reflux or those that presented anomalies which made impossible an exact reflux gradind were excluded. However, normal kidneys with reflux which were contralateral to hydronephrotic kidneys were included in the study. For a statistical analysis of the data, each kidney was considered separately, thereby forming a total of 474 kidneys. Slight hydronephrosis was diagnosed when the renal pelvis anteroposterior diameter was observed to measure between 0.5 and 1.5 cm. The International Grading System was used to grade reflux during MCUG. Of the 474 kidneys evaluated, 306 showed slight hydromephrosis in the echography. Only 98 of these presented reflux (32%) (14 grade 1.50 grade II, 32 grade III and 2 grade IV). The echography was normal (i. e. hydronephrosis not present) in 52 kidneys with reflux (31%) which were contralateral to hydronephrotic kidneys, although 38 of these had reflux of grade II or higher. The echography showed slight hydronephrosis in 208 kidneys that did not have reflux during MCUG (68%). There were no significant differences in the incidence of VUR among normal or hydronephrotic kidneys. There is a poor correlation between slight hydronephrosis and presence or grade of reflux in newborns and breast-fed infants. The latter should not, therefore, be considered an indication for MCUC. (Author) 33 refs

Giant Urinary Bladder and Bilateral Giant Hydronephrosis due to Bladder Neck Obstruction: One Case Report and Literature Review

Directory of Open Access Journals (Sweden)

Mohammed Fadl Tazi

2012-01-01

Full Text Available Bilateral hydronephrosis secondary to urinary obstruction leads to a buildup of back pressure in the urinary tract and may lead to impairment of renal function. Cases of giant hydronephrosis are rare and usually contain no more than 1-2 litres of fluid in the collecting system. Here, we report a rarely seen case with giant urinary bladder and bilateral giant hydronephrosis due to bladder neck obstruction which contains 4000 mL fluid in the collecting system of the kidney mimicking an ascites in an adult male.

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

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Esmer, Aytul Corbacioglu; Sivrikoz, Tugba Sarac; Gulec, Elif Yilmaz; Sezer, Salim; Kalelioglu, Ibrahim; Has, Recep; Yuksel, Atil

2016-10-01

Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

Fetal and neonatal abnormalities due to congenital rubella syndrome: a review of literature.

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Yazigi, Alexandre; De Pecoulas, Aurelia Eldin; Vauloup-Fellous, Christelle; Grangeot-Keros, Liliane; Ayoubi, Jean-Marc; Picone, Olivier

2017-02-01

Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis. We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis. The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly. This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought.

[Congenital mucocele of the ventral face of the tongue].

Science.gov (United States)

Nohuz, E; Gallot, D; Rousset, C; Brunel, A; Albaut, M; Bayeh, S; Vendittelli, F; Laurichesse-Delmas, H; Lemery, D

2016-03-01

Congenital cystic lesions of the oral cavity are an extremely rare occurrence. Their prenatal diagnosis is essential since they can impede respiratory and swallowing functions. We describe a case that was detected prenatally and discuss its management. A 21-year-old primigravida patient who was 23 weeks pregnant was referred to our obstetrics and gynecology center after fetal ultrasonography showed a cystic lesion of the oral cavity. She had no family history of any congenital anomalies. Ultrasonography showed a male fetus with an anechoic mass measuring 21×11 mm encompassing the entire oral cavity, evoking either a mucocele or a cystic hygroma. Magnetic resonance imaging (MRI) showed a fetus with a wide-open mouth, due to a well-demarcated protruding cystic mass with no solid component, suggestive of a mucocele. A prenatal sonographically guided percutaneous needle aspiration of mucous fluid was performed at 33 gestational weeks. Although the mucocele decreased significantly in size, it nevertheless continued to expand progressively. After an uncomplicated pregnancy, the patient had spontaneous onset of labor at 39 weeks of gestation. An iterative aspiration was performed in the same manner in utero, resulting in a complete collapse of the mucocele. If needed, intubation could be considered. A 3030-g male was born by vaginal delivery, without respiratory distress. Clinical examination showed the extremely opened mouth and confirmed the presence of a large cystic mass approximately 4 cm in diameter, of sublingual origin and encompassing the entire oral cavity. The continuous protrusion of the tongue was responsible for the infant's inability to close the mouth and be breastfed. After insertion of a feeding tube, the newborn had maxillofacial surgery consisting in marsupialization of the cyst at 2 days of age. The mucocele decreased in size and the postoperative course was uneventful. No recurrence was observed at 6 months' follow-up. Congenital mucoceles of the

Trends in congenital anomalies in Europe from 1980 to 2012

Science.gov (United States)

Springett, Anna L.; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bergman, Jorieke E. H.; Csaky-Szunyogh, Melinda; Dias, Carlos; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; McDonnell, Robert; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Kurinczuk, Jennifer; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen

2018-01-01

Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003–2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation. PMID:29621304

Diagnóstico prenatal de artrogriposis múltiple congénita Prenatal diagnosis of arthrogryposis multiplex congenita

Directory of Open Access Journals (Sweden)

Ivonne Martínez Vidal

2013-03-01

Full Text Available La artrogriposis múltiple congénita puede definirse como una displasia articular sistémica, caracterizada por rigidez articular en múltiples localizaciones de forma congénita. Se presenta un caso en el que se diagnosticó prenatalmente este signo clínico, que puede tener múltiples causas subyacentes.Arthrogryposis multiplex congenita may be defined as a systemic articular dysplasia characterized by articular rigidity in a many locations of congenital origin. A case was presented in which this clinical sign was diagnosed at prenatal phase and it may have many underlying causes.

Beyond easy answers: prenatal diagnosis and counseling during pregnancy.

Science.gov (United States)

Strauss, Ronald P

2002-03-01

The advancing sophistication and availability of prenatal diagnostic technologies, such as transvaginal ultrasound, chorionic villus sampling, amniocentesis, and alpha feto-protein testing, have increased the medical capacity to detect genetic and congenital conditions during pregnancy. This paper raises many social and ethical questions about how families, craniofacial teams, and society respond when a prenatal diagnosis is made and considers the ethical and social issues around counseling, managing information, and making decisions. Ethical and sociological analysis. Implications examined on the societal, health professional, and family level. Families and health professionals often manage ambiguity, uncertainty, and complex decision making in facing a prenatal diagnosis. Embedded in parental and clinical decisions are values about children with birth defects. Families are making decisions about whether to bear or abort an affected fetus on the basis of their perceptions of the impairment and on their expectation of the burden involved for the family and the child. On a broader, societal level, pressures to conform and minimize human differences are apparent in biomedical interventions, the Human Genome Project, advertising and media images, and social pressures to normalize disabilities. How society deals with prenatal diagnosis will impact upon social values; moral, legal, and ethical perspectives; and on health policy. Prenatal diagnostic technologies raise complex ethical, family, policy, and legal issues that have broad implications for the lives of children born with special health care needs, including children with cleft lip and palate.

Neonatal congenital lung tumors - the importance of mid-second-trimester ultrasound as a diagnostic clue

International Nuclear Information System (INIS)

Waelti, Stephan L.; Garel, Laurent; Rypens, Francoise; Dubois, Josee; Dal Soglio, Dorothee; Messerli, Michael

2017-01-01

The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors. We conducted a retrospective study of 135 congenital lung lesions at a university mother and child center over a period of 10 years (2005-2015). During this time, we noted four tumors (two cystic PPBs and two FLITs) and 131 malformations. We recorded the following parameters: timing of conspicuity in utero (mid-second trimester, third trimester, or not seen prenatally), presence of symptoms at birth, prenatal and perinatal radiologic findings, and either histological diagnoses by pathology or follow-up imaging in non-operated cases. All lesions except the four tumors were detected during mid-second-trimester ultrasound. In none of the tumors was any pulmonary abnormality found on the mid-second-trimester sonogram, contrary to the developmental pulmonary abnormalities. The timing of conspicuity in utero appears to be a key feature for the differentiation between malformations and tumors. Lesions that were not visible at the mid-second-trimester ultrasound should be considered as tumor. A cystic lung lesion in the context of a normal mid-second-trimester ultrasound is highly suggestive of a cystic PPB. Differentiating the types of solid congenital lung tumors based upon imaging features is not yet feasible. (orig.)

Neonatal congenital lung tumors - the importance of mid-second-trimester ultrasound as a diagnostic clue

Energy Technology Data Exchange (ETDEWEB)

Waelti, Stephan L.; Garel, Laurent; Rypens, Francoise; Dubois, Josee [University of Montreal, Department of Medical Imaging, Sainte-Justine Hospital, Quebec (Canada); Dal Soglio, Dorothee [University of Montreal, Department of Pathology, Sainte-Justine Hospital, Quebec (Canada); Messerli, Michael [University Hospital Zurich, University of Zurich, Department of Nuclear Medicine, Zurich (Switzerland)

2017-12-15

The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors. We conducted a retrospective study of 135 congenital lung lesions at a university mother and child center over a period of 10 years (2005-2015). During this time, we noted four tumors (two cystic PPBs and two FLITs) and 131 malformations. We recorded the following parameters: timing of conspicuity in utero (mid-second trimester, third trimester, or not seen prenatally), presence of symptoms at birth, prenatal and perinatal radiologic findings, and either histological diagnoses by pathology or follow-up imaging in non-operated cases. All lesions except the four tumors were detected during mid-second-trimester ultrasound. In none of the tumors was any pulmonary abnormality found on the mid-second-trimester sonogram, contrary to the developmental pulmonary abnormalities. The timing of conspicuity in utero appears to be a key feature for the differentiation between malformations and tumors. Lesions that were not visible at the mid-second-trimester ultrasound should be considered as tumor. A cystic lung lesion in the context of a normal mid-second-trimester ultrasound is highly suggestive of a cystic PPB. Differentiating the types of solid congenital lung tumors based upon imaging features is not yet feasible. (orig.)

Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

DEFF Research Database (Denmark)

Boyle, B; Morris, J K; McConkey, R

2014-01-01

OBJECTIVE: To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome. DESIGN: Population-based prevalence study based on EUROCAT congenital anomaly registries. SETTING: Eight European countries. POPULATION: 14...

Challenges in the prenatal and post-natal diagnosis of mediastinal cystic hygroma: a case report

Directory of Open Access Journals (Sweden)

Nazir Sarfraz

2008-08-01

Full Text Available Abstract Introduction Cystic hygroma is a benign congenital neoplasm that mostly presents as a soft-tissue mass in the posterior triangle of the neck. Pure mediastinal lesions are uncommon; the vast majority are asymptomatic and are an incidental finding in adulthood. The diagnosis is often made intra- or postoperatively. Prenatal identification is exceptional and post-natal diagnosis also proves challenging. Case presentation We report one such case that was mistaken for other entities in both the prenatal and immediate post-natal period. Initial and follow-up antenatal ultrasound scans demonstrated a multicystic lesion in the left chest, and the mother was counselled about the possibility of her baby having a congenital diaphragmatic hernia. Initial post-natal chest radiographs were reported as normal. An echocardiogram and thoracic computed tomography scan confirmed a complex multiloculated cystic mediastinal mass. The working diagnoses were of a mediastinal teratoma or congenital cystic adenomatous malformation. At operation, the lesion was compressed by the left lung and was found to be close to the left phrenic nerve, which was carefully identified and preserved. After excision, histopathological examination of the mass confirmed the diagnosis of cystic hygroma. Postoperative dyspnoea was observed secondary to paradoxical movement of the left hemidiaphragm and probable left phrenic neuropraxia. This settled conservatively with excellent recovery. Conclusion Despite the fact that isolated intrathoracic cystic hygroma is a rare entity, it needs to be considered in the differential diagnosis of foetal and neonatal mediastinal masses, particularly for juxtadiaphragmatic lesions. The phrenic nerve is not identifiable on prenatal ultrasound imaging, and it is therefore understandable that a mass close to the diaphragm may be mistaken for a congenital diaphragmatic hernia because of the location, morphology and potential phrenic nerve compression

Brain lesions in congenital nystagmus as detected by computed tomography

International Nuclear Information System (INIS)

Lo, Chin-Ying

1982-01-01

Computed tomography (CT) was performed in a series of 60 cases with congenital nystagmus. The type of nystagmus was pendular in 20 and jerky in 40 cases. The age ranged from 3 months to 13 years. Abnormal CT findings of the central nervous system were detected in 31 cases (52%). There were 5 major CT findings: midline anomalies, cortical atrophy, ventricular dilatation, brain stem atrophy and low density area. The midline anomalies involved cavum septi pellucidi, cavum Vergae, cavum veli interpositi and partial agenesis of corpus callosum. The abnormal CT findings were more prominent in pendular type than in jerky type. The incidence of congenital nystagmus and positive CT findings were the same in the first and the second birth. There was a history of abnormalities during the prenatal or perinatal period in 28 out of the 60 cases (47%). This feature seemed to play a significant role in the occurrence of congenital nystagmus. The observed organic lesions in the central nervous system by CT would contribute to the elucidation of pathomechanism of congenital nystagmus. (author)

Severe hydronephrosis secondary to uterine artery pseudoaneurysm in the early second trimester of pregnancy: A case report.

Science.gov (United States)

Amano, Tsukuru; Tokoro, Shinsuke; Tsuji, Shunichiro; Inoue, Takashi; Kimura, Fuminori; Murakami, Takashi

2017-09-25

Uterine artery pseudoaneurysm (UAP) normally presents genital bleeding in the puerperal period, and severe hydronephrosis rarely presents during pregnancy. We report a rare case of severe ureteral obstruction accompanied by uterine artery pseudoaneurysm in the early second trimester of pregnancy, which was successfully treated by surgical intervention. A 42-year-old nulligravid woman who had undergone myomectomy 3 years earlier was referred to our hospital for acute left abdominal pain at the 17th week of gestation. Ultrasonography showed severe left hydronephrosis and a 6-cm mass in the parauterine space. Color Doppler ultrasonography revealed a spinning turbulent flow pattern inside the mass lesion. Contrast-enhanced computed tomography revealed the left uterine artery feeding blood flow to the mass and left ureteral obstruction by the mass. These results indicated left hydronephrosis secondary to left uterine artery pseudoaneurysm. To resolve the problem, laparotomy was performed. As uterine artery isolation was impossible, ligation of the left internal iliac artery and releasing of the ureteral obstruction were carried out. The hydronephrosis and abdominal pain promptly resolved after the surgery. Thereafter, fetal development proceeded normally in the remaining months of the pregnancy. A healthy baby was delivered through cesarean section at 36 weeks gestational age. At the cesarean section, the left lower uterine segment where the UAP had been present was not visible because of the firm adhesion in around it. Uterine artery pseudoaneurysm can cause hydronephrosis in the early second trimester of pregnancy. Ligation of the unilateral internal iliac artery is a safe and effective intervention to block the blood flow to the uterine artery pseudoaneurysm during pregnancy, when uterine artery ligation seems not possible. In the pregnancy after previous surgical procedures to the uterus, uterine artery pseudoaneurysm should be considered in the differential

Doppler sonographic renal resistance index and resistance index ratio in children and adolescents with unilateral hydronephrosis

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Brkljacic, Boris [Department of Radiology, University Hospital ' ' Dubrava' ' , Av. G. Suska 6, 10000 Zagreb (Croatia); Kuzmic, Andrea Cvitkovic; Dmitrovic, Romana [Department of Pediatric Nephrology, Children' s Hospital, Klaiceva 16, 10000 Zagreb (Croatia); Rados, Marko [Department of Radiology, University Hospital Center, Kispaticeva 12, 10000 Zagreb (Croatia); Vidjak, Vinko [Department of Radiology, University Hospital ' ' Merkur' ' , Zajceva 19, 10000 Zagreb (Croatia)

2002-11-01

The aim of this study was to evaluate Doppler renal resistance index (RI) and RI ratio (RIR) in differentiating between obstructive and nonobstructive hydronephrosis in children and adolescents. The RI and RIR were measured in 32 healthy examinees (control group) and 29 patients with unilateral hydronephrosis. Ten patients had acute obstruction caused by a ureteric stone. Seven had obstructive hydronephrosis due to uretero-pelvic junction (UPJ) obstruction. Twelve patients had nonobstructive hydronephrosis. In controls the mean RI{+-}S.D. was 0.615{+-}0.04, and RIR 1.045{+-}0.033. In children with acute obstruction RI was 0.692{+-}0.035 and RIR 1.148{+-}0.037. In UPJ obstruction RI was 0.631{+-}0.054 and RIR 1.059{+-}0.047. In nonobstructive dilatation RI was 0.61{+-}0.038 and RIR 1.043{+-}0.042. The RI and RIR differences were statistically significant between controls and patients with acute colic (p<0.01), and between patients with acute obstruction and with nonobstructive hydronephrosis (p<0.01). In detecting acute obstruction RI{>=}0.70 was found to have a 70% sensitivity and a 92% specificity. The RIR{>=}1.10 was found optimal to distinguish obstructive from nonobstructive dilatation (sensitivity 90%, specificity 83%). Both RI and RIR are significantly elevated in patients with acute obstruction. Renal Doppler seems to be useful in children and adolescents for the detection of acute renal obstruction, although it cannot differentiate chronic obstruction due to the UPJ obstruction and nonobstructive renal collecting system dilatation. (orig.)

Diagnostic accuracy of neonatal kidney ultrasound in children having antenatal hydronephrosis without ureter and bladder abnormalities.

Science.gov (United States)

Rianthavorn, Pornpimol; Limwattana, Sorawan

2015-10-01

To determine the diagnostic accuracy of anteroposterior renal pelvic diameter (APD) measurement and the society for fetal urology (SFU) grading in neonatal ultrasonography (USG) for detecting uropathy in newborns having antenatal isolated hydronephrosis (IH), characterized by hydronephrosis without ureter and bladder abnormalities, and to study time to resolution and factors predicting resolution of insignificant hydronephrosis. Ninety-six healthy newborns (129 kidneys) with IH, who underwent USG at age 7-30 days and voiding cystourethrography (VCUG) in conjunction with diuretic renography (DR) if APD > 10 mm or SFU grade 3-4 in neonatal USG, and at least a 12-month follow-up were divided into significant and insignificant hydronephrosis using the combined data of sequential USG, VCUG, and DR as the reference standard. Areas under the receiver operating characteristic plots (95 % CI) were 0.86 (0.79-0.94) versus 0.81 (0.73-0.89); p = 0.08, and 87.6 versus 79.8 % of cases were correctly classified, for APD ≥ 16 mm versus SFU grade 4, respectively. Ureteropelvic junction obstruction (UPJO) was the most common uropathy diagnosed. Of 85 kidneys with insignificant hydronephrosis, 57 underwent spontaneous resolution. The resolution rates were 24, 40, and 68 % at age 6, 12, and 24 months, respectively. APD was the only independent factor predicting resolution with the hazard ratio of 0.83 (95 % CI 0.74-0.92; p = 0.001). In IH, neonatal USG was a useful diagnostic tool to detect uropathy, mainly UPJO. Further investigation should be recommended when APD ≥ 16 mm or SFU grade 4.

Doppler sonographic renal resistance index and resistance index ratio in children and adolescents with unilateral hydronephrosis

International Nuclear Information System (INIS)

Brkljacic, Boris; Kuzmic, Andrea Cvitkovic; Dmitrovic, Romana; Rados, Marko; Vidjak, Vinko

2002-01-01

The aim of this study was to evaluate Doppler renal resistance index (RI) and RI ratio (RIR) in differentiating between obstructive and nonobstructive hydronephrosis in children and adolescents. The RI and RIR were measured in 32 healthy examinees (control group) and 29 patients with unilateral hydronephrosis. Ten patients had acute obstruction caused by a ureteric stone. Seven had obstructive hydronephrosis due to uretero-pelvic junction (UPJ) obstruction. Twelve patients had nonobstructive hydronephrosis. In controls the mean RI±S.D. was 0.615±0.04, and RIR 1.045±0.033. In children with acute obstruction RI was 0.692±0.035 and RIR 1.148±0.037. In UPJ obstruction RI was 0.631±0.054 and RIR 1.059±0.047. In nonobstructive dilatation RI was 0.61±0.038 and RIR 1.043±0.042. The RI and RIR differences were statistically significant between controls and patients with acute colic (p<0.01), and between patients with acute obstruction and with nonobstructive hydronephrosis (p<0.01). In detecting acute obstruction RI≥0.70 was found to have a 70% sensitivity and a 92% specificity. The RIR≥1.10 was found optimal to distinguish obstructive from nonobstructive dilatation (sensitivity 90%, specificity 83%). Both RI and RIR are significantly elevated in patients with acute obstruction. Renal Doppler seems to be useful in children and adolescents for the detection of acute renal obstruction, although it cannot differentiate chronic obstruction due to the UPJ obstruction and nonobstructive renal collecting system dilatation. (orig.)

Recovery of function renal post pyeloplasty, benefit of the prenatal diagnosis

International Nuclear Information System (INIS)

Baquedano, P.; Orellana, P.; Varas, J.

2002-01-01

Introduction: Prenatal detection of hydronephrosis has raised new questions upon the indications for operation. Moreover, there is controversy whether or not pyeloplasty improves renal function. Objective: to correlate improvement of the renal function after pyeloplasty with the demographic data, age of the surgery, the sex, the symptoms and the renal function initial. Materials and Methods: 58 children ( 55%). 12 kidneys improved after surgery (24,8%). The average age of surgery was 29 months. Results: Twelve kidneys improved after pyeloplasty (24%) and 46 kidney unimproved (76%). In the group with improvement of RRF after surgery the antenatal diagnosis is significantly more frequent (83%) and the age average at the moment of the surgery is smaller (4 months v/s 35 months) than the group without improvement. In the group with improvement 83% were operated before one year of age, however in the group without improvement only a 45% were operated before 1 year of age. On the contrary we don't find correlation among improvement and RRF initial. Not there was significant difference in the RRF initial in both groups. Conclusion: The improvement of renal function after pyeloplasty in the UPJ obstruction is independent of the renal function initial. Pyeloplasty improves the renal function in the group of prenatal diagnostic, improvement associated to a smaller surgical age

Posterior Urethral Valves

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Steve J. Hodges

2009-01-01

Full Text Available The most common cause of lower urinary tract obstruction in male infants is posterior urethral valves. Although the incidence has remained stable, the neonatal mortality for this disorder has improved due to early diagnosis and intensive neonatal care, thanks in part to the widespread use of prenatal ultrasound evaluations. In fact, the most common reason for the diagnosis of posterior urethral valves presently is the evaluation of infants for prenatal hydronephrosis. Since these children are often diagnosed early, the urethral obstruction can be alleviated rapidly through catheter insertion and eventual surgery, and their metabolic derangements can be normalized without delay, avoiding preventable infant mortality. Of the children that survive, however, early diagnosis has not had much effect on their long-term prognosis, as 30% still develop renal insufficiency before adolescence. A better understanding of the exact cause of the congenital obstruction of the male posterior urethra, prevention of postnatal bladder and renal injury, and the development of safe methods to treat urethral obstruction prenatally (and thereby avoiding the bladder and renal damage due to obstructive uropathy are the goals for the care of children with posterior urethral valves[1].

ACE serum level and I/D gene polymorphism in children with obstructive uropathies and other congenital anomalies of the kidney and urinary tract.

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Kostadinova, Emilya Stambolova; Miteva, Lyuba Dineva; Stanilova, Spaska Angelova

2017-08-01

The aim of this study was to investigate the association of an insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme (ACE) gene with serum ACE level in relation to the type and severity of malformations from congenital anomalies of the kidney and urinary tract (CAKUT) spectrum. A group of 134 Bulgarian children with CAKUT divided into four subgroups according to the leading malformation and 109 controls were genotyped by classical polymerase chain reaction. The quantitative determination of serum ACE was performed by ELISA method. A significant elevation of DD-genotype was observed in high-grade hydronephrosis compared to low-grade (43% vs. 9%). The carrying of DD-genotype was associated with higher risk for severe hydronephrosis with OR = 7.5 (95% CI: 1.242÷45.278; P = 0.028). Also, elevated serum ACE concentrations in patients with high-grade compared to low-grade hydronephrosis (237.4 ± 45 ng/mL vs 180.5 ± 64 ng/mL; P = 0.0065) were found. ACE level was significantly lower in patients with unilateral renal agenesis; hypo/dysplasia and multicystic dysplastic kidney (156.6 ± 54 ng/mL) than controls (200.6 ± 56.7 ng/mL; P = 0.005) and the remaining CAKUT subgroups. The DD genotype of I/D ACE polymorphism encodes the highest serum ACE level may be an additional genetic risk factor contributing to the severe hydronephrosis in Bulgarian patients with obstructive uropathies in contrast to other investigated categories of CAKUT malformations. © 2016 Asian Pacific Society of Nephrology.

A New Grading System for the Management of Antenatal Hydronephrosis.

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Dos Santos, Joana; Parekh, Rulan S; Piscione, Tino D; Hassouna, Tarek; Figueroa, Victor; Gonima, Paula; Vargas, Isis; Farhat, Walid; Rosenblum, Norman D

2015-10-07

Standard clinical assessments do not predict surgical intervention in patients with a moderate degree of upper tract hydronephrosis. This study investigated whether combined measures of renal calyceal dilation and anteroposterior diameter (APD) of the renal pelvis at the first postnatal ultrasound better predict surgical intervention beyond standard assessments of the APD or Society of Fetal Urology (SFU) grading system. A retrospective cohort of 348 children with antenatal hydronephrosis followed from 2003 to 2013 were studied. Using Cox regression, the risk for surgery by APD, SFU, and combined grading on the basis of the first postnatal ultrasound was calculated. The predictive capability of each grading system for surgery was determined by calculating the positive likelihood ratio (LR+). The combination of APD≥6-9 mm and diffuse caliectasis had a hazard ratio (HR) of 19.5 (95% confidence interval [95% CI], 3.94 to 96.9) versus 0.59 (95% CI, 0.05 to 6.53) for APD≥6-9 mm alone and a similar risk of 8.9 for SFU grade 3 (95% CI, 3.84 to 20.9). The combination of APD≥9-15 mm and diffuse caliectasis had an HR of 18.7 (95% CI, 4.36 to 80.4) versus 1.75 (95% CI, 0.29 to 10.5) for APD≥9-15 mm alone. The LR+ for surgery for diffuse caliectasis and APD≥6-9 mm was higher than for APD≥6-9 mm alone (HR=2.62; 95% CI, 0.87 to 7.94 versus HR=0.04; 95% CI, 0.01 to 0.32) and was higher for APD≥9-15 mm and diffuse caliectasis than APD≥9-15 mm alone (HR=2.0; 95% CI, 1.15 to 3.45 versus HR=0.14; 95% CI, 0.04 to 0.43). Both combined groups of moderate hydronephrosis (APD≥6-9 mm or ≥9-15 mm with diffuse caliectasis) had only slightly higher LR+ than SFU grade 3 (HR=1.89; 95% CI, 1.17 to 3.05). These results suggest a grading system combining APD and diffuse caliectasis distinguishes those children with moderate degrees of upper tract hydronephrosis that are at higher risk of surgery. Copyright © 2015 by the American Society of Nephrology.

Conservative/surgical treatment predictors of maternal hydronephrosis: results of a single-center retrospective non-randomized non-controlled observational study.

Science.gov (United States)

Ercil, Hakan; Arslan, Burak; Ortoglu, Ferhat; Alma, Ergun; Unal, Umut; Deniz, Mehmet Eflatun; Senturk, Aykut Bugra; Gurbuz, Zafer Gokhan

2017-08-01

To determine the parameters that may help the clinicians decide the best suitable treatment method for the pregnant women with symptomatic hydronephrosis which will be based on the easily accessible laboratory tests, monitoring methods and clinical symptoms. Digital data and documents of 246 pregnant women with symptomatic hydronephrosis who were hospitalized in our clinic between the dates of January 2011 and January 2016 were retrospectively evaluated. All patients were statistically evaluated in terms of age, symptomatic maximal anterior-posterior diameter of the renal pelvis (MADP), parity, C-reactive protein (CRP) level, white blood cell count (WBC), presence of pyuria, growth of urine culture, fever, serum urine and creatinine levels, visual analog scale (VAS) score of pre- and post-therapy and threatened preterm labor. The study includes a total of 211 pregnant women with symptomatic hydronephrosis. In the second and third trimester groups, the surgical treatment group statistically provided higher levels of CRP, WBC and VAS. Mean MADP in the second trimester of the conservative and surgical groups where symptomatic hydronephrosis was on the right side was 16.67 ± 4.67 and 28.68 ± 7.70 mm, respectively. Mean MADP in the third trimester group of the conservative and surgical groups where symptomatic hydronephrosis was on the right side was 16.96 ± 5.96 and 28.85 ± 7.64 mm, respectively. In patients with symptomatic pregnancy hydronephrosis, the likelihood of surgical treatment for CRP levels, WBC counts and VAS is high.

Claudin-4 Deficiency Results in Urothelial Hyperplasia and Lethal Hydronephrosis

Science.gov (United States)

Fujita, Harumi; Hamazaki, Yoko; Noda, Yumi; Oshima, Masanobu; Minato, Nagahiro

2012-01-01

Claudin (Cld)-4 is one of the dominant Clds expressed in the kidney and urinary tract, including selective segments of renal nephrons and the entire urothelium from the pelvis to the bladder. We generated Cldn4 −/− mice and found that these mice had increased mortality due to hydronephrosis of relatively late onset. While the renal nephrons of Cldn4 −/− mice showed a concomitant diminution of Cld8 expression at tight junction (TJ), accumulation of Cld3 at TJ was markedly enhanced in compensation and the overall TJ structure was unaffected. Nonetheless, Cldn4 −/− mice showed slightly yet significantly increased fractional excretion of Ca2+ and Cl−, suggesting a role of Cld4 in the specific reabsorption of these ions via a paracellular route. Although the urine volume tended to be increased concordantly, Cldn4 −/− mice were capable of concentrating urine normally on dehydration, with no evidence of diabetes insipidus. In the urothelium, the formation of TJs and uroplaques as well as the gross barrier function were also unaffected. However, intravenous pyelography analysis indicated retarded urine flow prior to hydronephrosis. Histological examination revealed diffuse hyperplasia and a thickening of pelvic and ureteral urothelial layers with markedly increased BrdU uptake in vivo. These results suggest that progressive hydronephrosis in Cldn4 −/− mice arises from urinary tract obstruction due to urothelial hyperplasia, and that Cld4 plays an important role in maintaining the homeostatic integrity of normal urothelium. PMID:23284964

Psychological Effect of Prenatal Diagnosis of Cleft Lip and Palate: A Systematic Review.

Science.gov (United States)

Sreejith, V P; Arun, V; Devarajan, Anooj P; Gopinath, Arjun; Sunil, Madhuri

2018-01-01

Cleft lip and/or palate is the most common congenital craniofacial anomaly. Prenatal diagnosis of the craniofacial anomalies is possible with the advent of newer imaging modalities. The identification of the defect at an early stage in the pregnancy helps the parents to be well informed and counseled regarding the treatment possibilities and outcomes of cleft lip and palate (CLP) treatment. To analyze the psychological effects of prenatal diagnosis of CLP on the parents. PubMed, Cochrane, and Google Scholar searches were made with search strings "prenatal diagnosis cleft lip palate," "antenatal diagnosis," "anomaly scan," "psychological effect cleft lip palate," and "prenatal counseling cleft lip palate." Of the results obtained, studies which evaluated the psychological aspects of parents of cleft children were further included in the study. Electronic search yielded 500 articles after duplication removal. Forty studies concentrated on the results of the scan and their implications predominantly in the diagnosis and management of cleft and other related abnormalities. Eight studies discussed the effects of prenatal diagnosis and counseling on the parents. Prenatal diagnosis enables appropriate and timely counseling of the parents by the cleft team and helps instill a sense of preparedness for the family which highly improves the quality of treatment received by the child enabling a near-to-normal quality and standard of life.

Nyre- og urinvejsabnormiteter hos småbørn

DEFF Research Database (Denmark)

Cortes, D; Lee, K; Thorup, J M

1999-01-01

abnormalities after presentry with their first urinary tract infection. The obstructive urological diagnoses: congenital hydronephrosis, congenital megaureter and posterior urethral valves made up to 57% (20/35) of the abnormalities. Nine boys were operated upon; three for unilateral hydronephrosis, two...... were diagnosed in 11 children; 55% (6/11) ultrasonographically and 45% (5/11) by examination of the external genitalia of children younger than two years of age at the time of the first diagnosed urinary tract infection....

Incidence and implications of silent hydronephrosis following percutaneous nephrolithotomy
.

Science.gov (United States)

Dagrosa, Lawrence; Moses, Rachel; Pais, Vernon M

2017-01-01

While routine renal imaging following ureteroscopy for urinary calculi has been recommended to screen for asymptomatic "silent" obstruction, the rate of silent obstruction following percutaneous nephrolithotomy (PCNL) remains poorly defined, and no consensus recommendations exist on routine postoperative imaging. At our institution, we sought to assess the incidence of silent hydronephrosis (SH), as a screen for obstruction, following PCNL. The records of all 162 patients who met study inclusion criteria were reviewed. Of this group, 112 patients presented for their scheduled renal ultrasonography 4 - 6 weeks following stent removal to screen for SH. Asymptomatic patients found to have ultrasonographic evidence of hydronephrosis were further analyzed. SH was noted in 16% (18/112) of patients. Two required subsequent ureteroscopic stone extraction (1.8%), one of which also underwent endoureterotomy for a ureteral stricture. Four patients (22%) had stable hydronephrosis and declined functional imaging, 2 patients (11%) had a known partial ureteropelvic junction obstruction and declined intervention. SH resolved spontaneously in 50% (9/18) with a mean time to resolution of 6.3 months. There was no difference in stone complexity based on Guy's stone score between groups, 2.8 (± 0.92) vs. 2.4 (± 1.03), p = 0.34. Although not statistically significant, patients with SH were more likely to have had residual stone fragments postoperatively, 39% (7/18) vs. 19% (18/94), p = 0.067. SH following, PCNL was identified in 16% of this screened population, with the majority requiring no intervention. However, SH may be attributed to residual stone or stricture, which may have been otherwise unrecognized in up to 2% of patients undergoing PCNL. Consideration should be given for routine postoperative ultrasound to screen for silent obstruction following PCNL.
.

Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study.

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Theofanakis, Charalampos; Theodora, Marianna; Sindos, Michail; Daskalakis, George

2017-12-01

Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently. We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation. To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. The final diagnosis is confirmed with radiological examination after the termination of pregnancy. Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

Hydronephrosis and pregnancy: study with Doppler echography. Hidronefrosis y embarazo: estudio mediante ecografia Doppler

Energy Technology Data Exchange (ETDEWEB)

Ripolles Gonzalez, T.R.; Ambit Capdevilla, S.; Sanguesa Nebot, C.; Lazaro, S. de; Garcia Vila, J.H.; Belloch Ugarte, V.

1993-01-01

An 18-month study was performed to establish the normal intrarenal resistance index during pregnancy, in order to determine whether it differed significantly depending on the week of gestation or the degree of hydronephrosis. For this purpose , the flow velocity waves obtained in right kidney were analyzed in a group of 112 patients on the basis of 209 explorations. The kidneys were classified as grade 0,I,II, or III according to the degree of hydronephrosis. Doppler signal sampling was carried out at the level of the corticomedullary junction. From the results of the study it can be deduced that the index of intrarenal resistance during pregnancy is similar to that of the general population, that there are no significant differences among the groups with different degree of hydronephrosis and that the index does not vary according to the different weeks of gestation. These findings suggest that, during pregnancy, a pathological resistance index in a kidney should not be attributed to the physiological changes associated with normal gestation. (Author) 21 refs.

Impact of Pretreatment Hydronephrosis on the Success Rate of Shock Wave Lithotripsy in Patients with Ureteral Stone.

Science.gov (United States)

Chang, Ki Don; Lee, Joo Yong; Park, Sung Yoon; Kang, Dong Hyuk; Lee, Hyung Ho; Cho, Kang Su

2017-09-01

To evaluate predictors of the success rate for one session of shock wave lithotripsy (SWL), focusing on the relationships between pretreatment hydronephrosis grade and one-session SWL success rates. The medical records of 1824 consecutive patients who underwent an initial session of SWL for treatment of urinary stones between 2005 and 2013 were reviewed. After exclusion, 700 patients with a single, 4-20 mm diameter radiopaque calculus were included in the study. The mean maximal stone length (MSL) and skin-to-stone distance were 9.2±3.9 and 110.8±18.9 mm, respectively. The average values for mean stone density (MSD) and stone heterogeneity index (SHI) were 707.0±272.1 and 244.9±110.1, respectively. One-session success rates were 68.4, 75.0, 75.1, 54.0, and 10.5% in patients with hydronephrosis grade 0, 1, 2, 3, and 4, respectively. Patients were classified into success or failure groups based on SWL outcome. Multivariate logistic regression analyses revealed that MSL [odds ratio (OR) 0.888, 95% confidence intervals (CI): 0.841-0.934, phydronephrosis grade (OR 0.601, 95% CI: 0.368-0.988, p=0.043) were significantly associated with one-session success. Pretreatment grades 3 or 4 hydronephrosis were associated with failure of SWL in patients with a single ureteral stone. In the presence of severe hydronephrosis, especially hydronephrosis grade 4; physicians should proceed cautiously in choosing and offering SWL as the primary treatment for ureteral stone. © Copyright: Yonsei University College of Medicine 2017

A population-based case-control study of drinking-water nitrate and congenital anomalies using Geographic Information Systems (GIS) to develop individual-level exposure estimates.

Science.gov (United States)

Holtby, Caitlin E; Guernsey, Judith R; Allen, Alexander C; Vanleeuwen, John A; Allen, Victoria M; Gordon, Robert J

2014-02-05

Animal studies and epidemiological evidence suggest an association between prenatal exposure to drinking water with elevated nitrate (NO3-N) concentrations and incidence of congenital anomalies. This study used Geographic Information Systems (GIS) to derive individual-level prenatal drinking-water nitrate exposure estimates from measured nitrate concentrations from 140 temporally monitored private wells and 6 municipal water supplies. Cases of major congenital anomalies in Kings County, Nova Scotia, Canada, between 1988 and 2006 were selected from province-wide population-based perinatal surveillance databases and matched to controls from the same databases. Unconditional multivariable logistic regression was performed to test for an association between drinking-water nitrate exposure and congenital anomalies after adjusting for clinically relevant risk factors. Employing all nitrate data there was a trend toward increased risk of congenital anomalies for increased nitrate exposure levels though this was not statistically significant. After stratification of the data by conception before or after folic acid supplementation, an increased risk of congenital anomalies for nitrate exposure of 1.5-5.56 mg/L (2.44; 1.05-5.66) and a trend toward increased risk for >5.56 mg/L (2.25; 0.92-5.52) was found. Though the study is likely underpowered, these results suggest that drinking-water nitrate exposure may contribute to increased risk of congenital anomalies at levels below the current Canadian maximum allowable concentration.

A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea--implications for management.

Science.gov (United States)

Ome, Maria; Wangnapi, Regina; Hamura, Nancy; Umbers, Alexandra J; Siba, Peter; Laman, Moses; Bolnga, John; Rogerson, Sheryle; Unger, Holger W

2013-05-07

Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery. A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21(+5) weeks' gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks' gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG. This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women's attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a fetus with severe congenital abnormalities may

Transgenic overexpression of p23 induces spontaneous hydronephrosis in mice

Science.gov (United States)

Lee, Jaehoon; Kim, Hye Jin; Moon, Jung Ah; Sung, Young Hoon; Baek, In-Jeoung; Roh, Jae-il; Ha, Na Young; Kim, Seung-Yeon; Bahk, Young Yil; Lee, Jong Eun; Yoo, Tae Hyun; Lee, Han-Woong

2011-01-01

p23 is a cochaperone of heat shock protein 90 and also interacts functionally with numerous steroid receptors and kinases. However, the in vivo roles of p23 remain unclear. To explore its in vivo function, we generated the transgenic (TG) mice ubiquitously overexpressing p23. The p23 TG mice spontaneously developed kidney abnormalities closely resembling human hydronephrosis. Consistently, kidney functions deteriorate significantly in the p23 TG mice compared to their wild-type (WT) littermates. Furthermore, the expression of target genes for aryl hydrocarbon receptor (AhR), such as cytochrome P450, family 1, subfamily A, polypeptide 1 (Cyp1A1) and cytochrome P450, family 1, subfamily B, polypeptide 1 (Cyp1B1), were induced in the kidneys of the p23 TG mice. These results indicate that the overexpression of p23 contributes to the development of hydronephrosis through the upregulation of the AhR pathway in vivo. PMID:21323770

Impact of magnetic resonance urography and ultrasonography on diagnosis and management of hydronephrosis and megaureter in paediatric patients

Directory of Open Access Journals (Sweden)

Peer Wildbrett

2012-01-01

Full Text Available Background: (1 To evaluate the diagnostic value of magnetic resonance urography (MRU in comparison with ultrasonography (US to determine the extent of upper urinary tract dilation and (2 to evaluate the impact of MRU on therapy management. Materials and Methods: From January 2005 to December 2010, paediatric patients with hydronephrosis or megaureter who underwent MRU in addition to standard work-up imaging were included. Data were retrospectively collected and analysed in comparison with the data obtained from results by US. Results: Forty-five patients with upper urinary tract dilatation were included into the study. Twenty-six patients (58% had a hydronephrosis and 19 patients (42% presented with a megaureter. Diagnosis was established in all patients by multimodulary imaging work-up including micturating cysto-urethrography, MAG3 renography, US and MRU and could be confirmed in all patients who underwent surgery (n = 28. Hydronephrosis was detected in 26 of 26 patients by US (100% sensitivity and in 25 of 26 patients (96% by MRU (Not significant (n.s.. Megaureter was detected in 17 of 19 patients (sensitivity 89% by US and in 18 of 19 patients (sensitivity 95% by MRU (n.s.. In all 45 patients, MRU had no impact on surgical or conservative management of hydronephrosis or megaureter. Conclusion: In our experience, MRU was not superior to US in detecting hydronephrosis or megaureter and had no impact on the surgical or conservative management of upper urinary tract dilation.

Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family.

Science.gov (United States)

Talebi, Farah; Ghanbari Mardasi, Farideh; Mohammadi Asl, Javad; Lashgari, Ali; Farhadi, Freidoon

2018-07-01

Norrie disease (ND) is a rare X-linked recessive disorder, which is characterized by congenital blindness and, in several cases, accompanied with mental retardation and deafness. ND is caused by mutations in NDP, located on the proximal short arm of the X chromosome (Xp11.3). The disease has been observed in many ethnic groups worldwide, however, no such case has been reported from Iran. In this study, we present the molecular analysis of two patients with ND and the subsequent prenatal diagnosis. Screening of NDP identified a hemizygous missense mutation (p.Ser133Cys) in the affected male siblings of the family. The mother was the carrier for the mutation (p.Ser133Cys). In a subsequent chorionic amniotic pregnancy, we carried out prenatal diagnosis by sequencing NDP in the chorionic villi sample at 11 weeks of gestation. The fetus was carrying the mutation and thus unaffected. This is the first mutation report and prenatal diagnosis of an Iranian family with ND, and highlights the importance of prenatal diagnostic screening of this congenital disorder and relevant genetic counseling. Copyright© by Royan Institute. All rights reserved.

Comparative study of dynamic renal scintigraphy and conventional ultrasonography for the diagnosis of hydronephrosis as a complication of urolithiasis

International Nuclear Information System (INIS)

Hadzhiyska, V.; Petrov, T.; Kostadinova, I.; Krusteva, R.; Marianovski, V.

2010-01-01

Hydronephrosis is the most common complication of the nephrolithiasis which often leads to irreversible and long lasting consequences for the kidney involved. The aim of the study is to compare the results from the Ultrasonography (US) and the Dynamic renal scintigraphy (DRS) in the diagnosis of hydronephrosis as a complication of nephro- and urolithiasis. Forty-six patients (21 male, 26 female), aged between 13 and 85 years, with mainly unilateral proved or suspected hydronephrosis are studied. All of them have history for nephro- or urolithiasis. A DRS with 99mTc-DTPA is done by using 255 MBq dose and 25 min. protocol. Diuretic test is performed in 24 (52 %) of the patients. The results from the US and the DRS are compared for all patients. The results from the comparative study show that the DRS confirm and precise the diagnosis from the US in 72% of the cases, while in the rest of them the findings from the DRS differs from the US diagnosis. In 32 % of the cases where diuretic test was performed an obstructive hydronephrosis is found. The comparative investigation provides evidence that the DRS corrects and precise the diagnosis of hydronephrosis, determined by US in significant percentage of the cases, provides additional information by using functional parameters and should be used as a basic diagnostic method for the last therapeutic decision. (authors)

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Science.gov (United States)

Knierim, Ellen; Hirata, Hiromi; Wolf, Nicole I.; Morales-Gonzalez, Susanne; Schottmann, Gudrun; Tanaka, Yu; Rudnik-Schöneborn, Sabine; Orgeur, Mickael; Zerres, Klaus; Vogt, Stefanie; van Riesen, Anne; Gill, Esther; Seifert, Franziska; Zwirner, Angelika; Kirschner, Janbernd; Goebel, Hans Hilmar; Hübner, Christoph; Stricker, Sigmar; Meierhofer, David; Stenzel, Werner; Schuelke, Markus

2016-01-01

Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. We report on recessive loss-of-function mutations in two genes (TRIP4 and ASCC1) that encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex. We used autozygosity mapping and whole-exome sequencing to search for pathogenic mutations in four families. Affected individuals presented with prenatal-onset spinal muscular atrophy (SMA), multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, and congenital bone fractures. We identified homozygous and compound-heterozygous nonsense and frameshift TRIP4 and ASCC1 mutations that led to a truncation or the entire absence of the respective proteins and cosegregated with the disease phenotype. Trip4 and Ascc1 have identical expression patterns in 17.5-day-old mouse embryos with high expression levels in the spinal cord, brain, paraspinal ganglia, thyroid, and submandibular glands. Antisense morpholino-mediated knockdown of either trip4 or ascc1 in zebrafish disrupted the highly patterned and coordinated process of α-motoneuron outgrowth and formation of myotomes and neuromuscular junctions and led to a swimming defect in the larvae. Immunoprecipitation of the ASC-1 complex consistently copurified cysteine and glycine rich protein 1 (CSRP1), a transcriptional cofactor, which is known to be involved in spinal cord regeneration upon injury in adult zebrafish. ASCC1 mutant fibroblasts downregulated genes associated with neurogenesis, neuronal migration, and pathfinding (SERPINF1, DAB1, SEMA3D, SEMA3A), as well as with bone development (TNFRSF11B, RASSF2, STC1). Our findings indicate that the dysfunction of a transcriptional coactivator complex can result in a clinical syndrome affecting the neuromuscular system. PMID:26924529

Nyre- og urinvejsabnormiteter hos småbørn

DEFF Research Database (Denmark)

Cortes, D; Lee, K; Thorup, J M

1999-01-01

abnormalities after presentry with their first urinary tract infection. The obstructive urological diagnoses: congenital hydronephrosis, congenital megaureter and posterior urethral valves made up to 57% (20/35) of the abnormalities. Nine boys were operated upon; three for unilateral hydronephrosis, two...... for posterior urethral valves, one for unilateral megaureter and three for phimosis. Two girls were treated with oestrogen for labial fusion. Urological abnormalities which were treated were found among the ultrasonographically diagnosed abnormalities, apart from phimosis and labial fusion. The frequency...

Comparisons of clinic effects between DTPA renal dynamic imaging and B-ultrasound examination in diagnosis and treatment of infantile hydronephrosis

International Nuclear Information System (INIS)

Zhang Lixia; Qi Lili; Shen Wenhua; Luo Yunxiao

2011-01-01

Objective: To study the clinic value of DTPA renal dynamic imaging in the functional evaluation of infantile hydronephrosis and clarify its application value, and lay the foundation for DTPA renal dynamic imaging in diagnosis and treatment of infantile hydronephrosis. Methods: 70 infants with hydronephrosis in our hospital whose mean age was (2.32±2.1) years (rang from 37 d to 6 years) were selected. There were 56 males and 14 females. 18 normal infants with mean age (2.66±2.01) years (rang from 41 d to 6 years, 15 males and 3 females) were selected as control group during the same period. Technetium-99m-labelled DTPA ( 99m Tc-DTPA) was taken as agent, and the dose of 99m Tc was 18.5 MBq per infant. GE Infinia SPECT was used as imaging equipment. The time-activity curve was generated in the imaging system automatically. The glomerular filtration rate (GFR) was detected by DTPA renal dynamic imaging through drawing the region of interest (ROI). Results: 83 kidneys were suffered from hydronephrosis diagnosed by B-ultrasound among 70 infant patients, while 104 abnormal kidneys were diagnosed by renal dynamic imaging. The detection rate of renal dysfunction by renal dynamic imaging was higher than that of B-ultrasound (t=7.751, P=0.005). Among 83 kidneys suffered from hydronephrosis diagnosed by B-ultrasound, the continued rising type was 56 cases (67.47% ); the parabolic type was cases (7.23% ); the high linear extension type was 14 cases (16.87% ); and the low linear extension type was 7 cases (8.43% ). The GFR value of linear extension type was lower than normal control group, the difference was significant (P<0.05), and the another three types had no significant differences compared with control group. Conclusion: For infantile hydronephrosis, DTPA renal dynamic imaging can observe not only the abnormal morphology of kidney, but also the function of split kidney; and it can provide objective basis for diagnosis and treatment of infantile hydronephrosis. (authors)

A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea – implications for management

Science.gov (United States)

2013-01-01

Background Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery. Case presentation A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21+5 weeks’ gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks’ gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG. Conclusion This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women’s attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a

Urinary NGAL, KIM-1 and L-FABP concentrations in antenatal hydronephrosis.

Science.gov (United States)

Noyan, Aytul; Parmaksiz, Gonul; Dursun, Hasan; Ezer, Semire Serin; Anarat, Ruksan; Cengiz, Nurcan

2015-10-01

The clinical tests currently in use for obstructive nephropathy (such as renal ultrasonography, differential radionuclide renal scans and urinary creatinine concentration data) are not efficient predictors of the subsequent clinical course. Novel and simple biomarkers are required which, if proven, could be clinically beneficial in determining if a patient is eligible for surgery or reno-protective therapy. More recently, the interest of clinicians has focused on the potential of urinary neutrophil gelatinase-associated lipocalin (uNGAL), urinary kidney injury molecule-1 (uKIM-1) and urinary liver-type fatty acid-binding proteins (uL-FABP) as biomarkers for renal function in children with hydronephrosis (HN). The purpose of this study was to investigate possible clinical applications of uNGAL, uKIM-1 and uL-FABP as beneficial non-invasive biomarkers to determine whether or not surgical intervention is required in children with HN. Renal ultrasonography and radionuclide renal scans were used as diagnostic tools to detect HN. Patients were divided into two groups based on the antero-posterior diameter of their renal pelvis and the presence of dysfunction. Group 1 included 26 children with severe HN (with dysfunction), and group 2 consisted of 36 children with mild HN (without dysfunction). Urine samples were collected from 62 children with HN and 20 healthy children. Hydronephrosis was more common in males than in females, with a male to female ratio of 9:1 in the study sample. The incidence of left kidney involvement (32 patients) was slightly higher than right kidney involvement (28 patients). Compared with controls and group 2, the ratio of uNGAL to creatinine was significantly higher in group 1 (p hydronephrosis and dysfunction had significantly increased uNGAL, and uNGAL/Cr concentrations. However, uKIM-1, uKIM-1/Cr, uL-FABP and uL-FABP/Cr concentrations were not significantly different when compared with controls. These results support the use of u

CAUSES OF NON-OPTIMAL CONSERVATIVE TREATMENT OF CONGENITAL CLUBFOOT IN CHILDREN

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V. M. Kenis

2017-01-01

Full Text Available Introduction. Ponseti method commonly accepted as the optimal approach to management of congenital clubfoot. Continuing with alternative methods should considered as malpractice. Aim: to assess causes of non-optimal treatment of congenital clubfoot in children.Materials and methods: Assessment group included 60 patients treated earlier in other clinics with non-optimal results. Control group included 60 patients treated in our clinic by Ponseti method. We used case history analysis and parents’ interviewing.Results. Family history of clubfoot and prenatal diagnosis positively influenced on the choice of Ponseti method. Primary consultancy of orthopedist and Internet search were main factors for choosing Ponseti method after birth. In contrast, the methods lead to non-optimal results chosen after maternity home and pediatricians.Conclusion. Main cause of non-optimal results of congenital clubfoot treatment is the lack of information regarding current approaches among non-orthopedic physicians, which emphasizes necessity of adequate informational support.

A holistic approach to CAKUT (Congenital Anomalies of the Kidney and Urinary Tract

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Giuseppe Masnata

2016-02-01

Full Text Available The urinary tract malformations, today called CAKUT (Congenital Anomalies of the Kidney and Urinary Tract, include a range of morphological and/or functional abnormalities of the kidney and urinary tract diseases, apart from being the main cause of renal failure in children. The frequency of these birth defects is around 2% of pregnancies and many genetic syndromes may include CAKUT: about 500 of them have been described. The CAKUT concern localized alterations at different levels of the urinary system: hydronephrosis, vesicoureteral reflux, duplex collecting system, megaureter, kidney dysplasia. In the approach to the child with CAKUT it is important to identify a population at risk, distinguishing between CAKUT with and without clinical significance, applying a tailored approach to the individual patient, avoiding unnecessary investigations and treatments.

Renal parenchymal function evaluated by scintillation camera renography before and after pyeloplasty for hydronephrosis

International Nuclear Information System (INIS)

Ahlgren, G.; Maansson, W.; White, T.

1992-01-01

Scintillation camera renography with Tc-DTPA was performed before and after pyeloplasty on 16 kidneys with urographic signs of pelviureteric obstruction causing hydronephrosis. Regional parenchymal renograms were generated, and the passage of Tc-DTPA through the parenchyma was measured and correlated to the change in separate glomerular filtration rate. Preoperative parenchymal passage of DTPA was significantly slower in kidneys with improved glomerular filtration rate after pyeloplasty than in those without such improvement. Postoperative passage of DTPA in parenchyma was almost identical with that in a reference series. This method seems to be clinically useful for evaluating cases of hydronephrosis and for predicting the outcome of pyeloplasty. (au)

Prenatal androgen exposure alters girls' responses to information indicating gender-appropriate behaviour.

Science.gov (United States)

Hines, Melissa; Pasterski, Vickie; Spencer, Debra; Neufeld, Sharon; Patalay, Praveetha; Hindmarsh, Peter C; Hughes, Ieuan A; Acerini, Carlo L

2016-02-19

Individual variability in human gender-related behaviour is influenced by many factors, including androgen exposure prenatally, as well as self-socialization and socialization by others postnatally. Many studies have looked at these types of influences in isolation, but little is known about how they work together. Here, we report that girls exposed to high concentrations of androgens prenatally, because they have the genetic condition congenital adrenal hyperplasia, show changes in processes related to self-socialization of gender-related behaviour. Specifically, they are less responsive than other girls to information that particular objects are for girls and they show reduced imitation of female models choosing particular objects. These findings suggest that prenatal androgen exposure may influence subsequent gender-related behaviours, including object (toy) choices, in part by changing processes involved in the self-socialization of gendered behaviour, rather than only by inducing permanent changes in the brain during early development. In addition, the findings suggest that some of the behavioural effects of prenatal androgen exposure might be subject to alteration by postnatal socialization processes. The findings also suggest a previously unknown influence of early androgen exposure on later processes involved in self-socialization of gender-related behaviour, and thus expand understanding of the developmental systems regulating human gender development. © 2016 The Author(s).

A Population-Based Case-Control Study of Drinking-Water Nitrate and Congenital Anomalies Using Geographic Information Systems (GIS) to Develop Individual-Level Exposure Estimates

Science.gov (United States)

Holtby, Caitlin E.; Guernsey, Judith R.; Allen, Alexander C.; VanLeeuwen, John A.; Allen, Victoria M.; Gordon, Robert J.

2014-01-01

Animal studies and epidemiological evidence suggest an association between prenatal exposure to drinking water with elevated nitrate (NO3-N) concentrations and incidence of congenital anomalies. This study used Geographic Information Systems (GIS) to derive individual-level prenatal drinking-water nitrate exposure estimates from measured nitrate concentrations from 140 temporally monitored private wells and 6 municipal water supplies. Cases of major congenital anomalies in Kings County, Nova Scotia, Canada, between 1988 and 2006 were selected from province-wide population-based perinatal surveillance databases and matched to controls from the same databases. Unconditional multivariable logistic regression was performed to test for an association between drinking-water nitrate exposure and congenital anomalies after adjusting for clinically relevant risk factors. Employing all nitrate data there was a trend toward increased risk of congenital anomalies for increased nitrate exposure levels though this was not statistically significant. After stratification of the data by conception before or after folic acid supplementation, an increased risk of congenital anomalies for nitrate exposure of 1.5–5.56 mg/L (2.44; 1.05–5.66) and a trend toward increased risk for >5.56 mg/L (2.25; 0.92–5.52) was found. Though the study is likely underpowered, these results suggest that drinking-water nitrate exposure may contribute to increased risk of congenital anomalies at levels below the current Canadian maximum allowable concentration. PMID:24503976

Investigation and identification of etiologies involved in the development of acquired hydronephrosis in aged laboratory mice with the use of high-frequency ultrasound imaging

Science.gov (United States)

Springer, Danielle A.; Allen, Michele; Hoffman, Victoria; Brinster, Lauren; Starost, Matthew F.; Bryant, Mark; Eckhaus, Michael

2014-01-01

Laboratory mice develop naturally occurring lesions that affect biomedical research. Hydronephrosis is a recognized pathologic abnormality of the mouse kidney. Acquired hydronephrosis can affect any mouse, as it is caused by any naturally occurring disease that impairs free urine flow. Many etiologies leading to this condition are of particular significance to aging mice. Non-invasive ultrasound imaging detects renal pelvic dilation, renal enlargement, and parenchymal loss for pre-mortem identification of this condition. High-frequency ultrasound transducers produce high-resolution images of small structures, ideal for detecting organ pathology in mice. Using a 40 MHz linear array transducer, we obtained high-resolution images of a diversity of pathologic lesions occurring within the abdomen of seven geriatric mice with acquired hydronephrosis that enabled a determination of the underlying etiology. Etiologies diagnosed from the imaging results include pyelonephritis, neoplasia, urolithiasis, mouse urologic syndrome, and spontaneous hydronephrosis, and were confirmed at necropsy. A retrospective review of abdominal scans from an additional 149 aging mice shows that the most common etiologies associated with acquired hydronephrosis are mouse urologic syndrome and abdominal neoplasia. This report highlights the utility of high-frequency ultrasound for surveying research mice for age-related pathology, and is the first comprehensive report of multiple cases of acquired hydronephrosis in mice. PMID:25143818

Acute gastric volvulus and congenital diaphragmatic hernia, case report and review

Directory of Open Access Journals (Sweden)

Laura Pérez-Egido

2015-01-01

Full Text Available Congenital diaphragmatic hernia (CDH is the result of the incomplete fusion and closure of the pleuroperitoneal canal during the fetal development. CDH is usually diagnosed prenatally but, if undiagnosed, the clinical presentation ranges from asymptomatic children to serious respiratory or gastrointestinal symptoms. Acute gastric volvulus associated with CDH is a rare surgical emergency in children. We report two cases of acute gastric volvulus associated with CDH and review the literature.

Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: early prenatal diagnosis at 9(+5) weeks by 3D transvaginal ultrasound and coelocentesis.

Science.gov (United States)

Tonni, Gabriele; Ventura, Alessandro; Bonasoni, Maria Paola

2009-09-01

A 27-year-old pregnant woman was diagnosed by 3D transvaginal ultrasound as carrying a fetus of 9(+5) weeks gestation affected by acrania/encephalocele (exencephaly) sequence. A 2D transvaginal ultrasound-guided aspiration of 5 mL of extra-coelomic fluid was performed under cervical block before uterine suction. Conventional cytogenetic analysis demonstrated a 92,XXXX karyotype. Transvaginal 2D ultrasound-guided coelocentesis for rapid karyotyping can be proposed to women who are near to miscarriage or in cases where a prenatal ultrasound diagnosis of congenital anomaly is performed at an early stage of development. Genetic analysis can be performed using traditional cytogenetic analysis or can be aided by fluorescence in situ hybridization (FISH). Coelocentesis may become an integral part of first trimester armamentarium and may be clinically useful in the understanding of the pathogenesis of early prenatally diagnosed congenital anomalies.

Parents' perceptions of counselling following prenatal diagnosis of congenital anomalies of the kidney and urinary tract: a qualitative study.

Science.gov (United States)

Marokakis, Sarah; Kasparian, Nadine A; Kennedy, Sean E

2017-03-01

To explore parents' experiences of counselling after prenatal diagnosis of congenital anomalies of the kidney and urinary tract. Parents of a child born between September 2012 and March 2015 with posterior urethral valves (PUV) or multicystic dysplastic kidney (MCDK) completed a semi-structured telephone interview, demographic survey, and the 21-item self-report Depression, Anxiety and Stress Scales questionnaire. Qualitative data were analysed thematically using NVivo10 software. In all, 17 parents (PUV, eight; MCDK, nine) participated (response rate 40%), and most were offered counselling during pregnancy (14/17). Parents described feelings of shock, fear and uncertainty after diagnosis, and desired early information on all aspects of their child's condition. Most participants were satisfied with the information received; however, unmet information needs relating to treatment and prognosis were identified, particularly amongst fathers and parents in the PUV group. Some parents felt relieved after counselling (12/17); however, emotional distress often persisted long after diagnosis. Parents described a need for written and web-based information resources, specialised psychological services, and parent support groups. While parents valued counselling, many continued to report unmet informational and psychological needs. Early counselling addressing topics important to parents and provision of additional resources and support services may improve parents' adjustment to their baby's diagnosis. © 2016 The Authors BJU International © 2016 BJU International Published by John Wiley & Sons Ltd.

Prenatal screening for chromosomal abnormalities in IVF patients that opted for preimplantation genetic screening/diagnosis (PGS/D): a need for revised algorithms in the era of personalized medicine.

Science.gov (United States)

Takyi, Afua; Santolaya-Forgas, Joaquin

2017-06-01

Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients.

Pulmonary surfactant protein A, B, and C mRNA and protein expression in the nitrofen-induced congenital diaphragmatic hernia rat model

NARCIS (Netherlands)

van Tuyl, Minke; Blommaart, Piet jan E.; Keijzer, Richard; Wert, Susan E.; Ruijter, Jan M.; Lamers, Wouter H.; Tibboel, Dick

2003-01-01

Neonates with congenital diaphragmatic hernia (CDH) suffer from a diaphragmatic defect, lung hypoplasia, and pulmonary hypertension, with poor lung function forming the major clinical challenge. Despite prenatal diagnosis and advanced postnatal treatment strategies, the mortality rate of CDH is

Hydronephrosis causes salt-sensitive hypertension and impaired renal concentrating ability in mice

DEFF Research Database (Denmark)

Carlström, M; Sällström, J; Skøtt, O

2007-01-01

AIM: Hypertension is a common disease in the industrialized world and approximately 5% of all cases are secondary to kidney malfunction. We have recently shown that hydronephrosis due to partial unilateral ureteral obstruction (PUUO) causes salt-sensitive hypertension in rats. The mechanisms...... are still unclear, but appear to be intrarenal and primarily located to the diseased kidney. In the present study, we have developed a model for PUUO to study if hydronephrotic mice develop salt-sensitive hypertension. METHODS: PUUO was created in 3-week-old mice (C57bl/6J). Blood pressure and heart rate...... salt-sensitive hypertension that correlated to the degree of hydronephrosis. In hydronephrotic animals, blood pressure increased from 114 +/- 1 mmHg on normal salt diet to 120 +/- 2 mmHg on high salt diet, compared with 103 +/- 1 to 104 +/- 1 in controls. Hydronephrotic animals showed increased...

Effects of gentamicin on the recovery of renal function after unilateral hydronephrosis

Energy Technology Data Exchange (ETDEWEB)

Seki, Nobumitsu [Ehime Univ., Shigenobu (Japan). School of Medicine

2002-06-01

Urinary tract infection is one of complications in hydronephrosis, and antibiotics such as gentamicin are indicated for the treatment. However, gentamicin is known to cause drug-induced nephropathy. Using a rat kidney model, we investigated the effects of gentamicin treatment on the functional recovery from unilateral hydronephrosis. Quantitative separate renal function study by means of Technetium-99m DMSA renoscintigraphy revealed that contralateral kidney was affected by the treatment right after the release of complete ureteral obstruction. Moreover, in the case of incomplete ureteral obstruction, bilateral kidneys were affected by the treatment. Morphological studies using in situ DNA3' -end labeling and immunohistochemical methods showed that regeneration in the bilateral kidney followed gentamicin treatment right after the release. These results suggest that we should take account of separate renal function failure after gentamicin administration in the perihydronephrotic periods. (author)

Congenital urethrovaginal fistula associated with imperforate hymen causing fetal urinary ascites and abdominal cystic lesions: A case report and literature review

Directory of Open Access Journals (Sweden)

Koichi Ohno

2015-02-01

Full Text Available A primipara presented to our hospital due to fetal ascites, bilateral hydronephrosis and hydrometrocolpos. The female baby had two giant abdominal cysts, a single atrium and foot polydactyly. Absence of the vaginal orifice was noticed, and the hymen was broken through; the left cyst collapsed after fluid drainage. The right cyst was punctured and drained, which improved the hydronephrosis. Contrast imaging showed medium pouring into the abdominal cavity via the uterine tube; the right cyst was a 6 × 5 cm closed cavity. Vaginal uroplania persisted even after hospital discharge. At the age of 4 years, cystoscopy showed a fistulous opening on the urethra 5 mm distal from the internal urethral orifice. A catheter inserted via the opening was found in the vagina. In our case, urine poured into the abdominal cavity through the fistula and uterine tube; following obstruction of the uterine tube, giant hydrometrocolpos and hydrosalpinx appeared. Three cases of congenital urethrovaginal fistula (CUVF with imperforate hymen have been reported. A remnant of communication between the uterovaginal primordium and urogenital sinus may be responsible for CUVF.

Prevalence of associated extracardiac malformations in the congenital heart disease population.

Science.gov (United States)

Egbe, Alexander; Uppu, Santosh; Lee, Simon; Ho, Deborah; Srivastava, Shubhika

2014-10-01

The authors hypothesized that changes in prenatal factors such as termination of pregnancy for fetal anomalies and prenatal vitamin supplementation have altered the epidemiology of patients with multiple congenital anomalies and may have had an impact on their prevalence in the current era. This study reviewed the Nationwide Inpatient Sample database from 1998 to 2008 and compared the prevalence of ECM among live births with a CHD diagnosis (case) and that among live births without a CHD diagnosis (control). For this study, 42 ECM and 10 CHD diagnoses were selected for subanalysis. Longitudinal analysis also was performed to determine temporal variation of ECM prevalence in the CHD population during the 11-year study period. The cohort in this study consisted of 97,154 patients in the case group and 12,078,482 subjects in the control group. The prevalences in the CHD population were 11.4 % for nonsyndromic congenital malformation (NSCM), 2.2 % for genetic syndrome (GS), and 13.6 % for overall extracardiac congenital malformation (ECM). The prevalences in the control group were 6.7 % for NSCM, 0.3 % for GS, and 7.0 % for ECM. The findings showed a strong association of NSCM [odds ratio (OR) 1.88; 95 % confidence interval (CI) 1.73-1.94], GS (OR 2.52; 95 % CI 2.44-2.61), and overall ECM (OR 2.01; 95 % CI 1.97-2.14) with CHD. The prevalences of GS and multiple organ system CM decreased significantly during the study period. This study was the largest and most comprehensive population-based study to evaluate the association between CHD and ECM in newborns.

Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

Energy Technology Data Exchange (ETDEWEB)

Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)

2006-04-15

Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

Prospective study of fetal hydronephrosis diagnosed by ultrasound- contribution to prevent renal damage in childhood; Estudo prospectivo da hidronefrose fetal diagnosticada por ultra-som: uma contribuicao na prevencao ao dano renal na infancia

Energy Technology Data Exchange (ETDEWEB)

Oliveira, Eduardo A.; Cabral, Antonio Carlos V.; Leite, Henrique V.; Filgueiras, Teresa F.; Oliveira, Raquel B.B.; Vilasboas, Aranai S.; Tiburcio, Arthur E.L.; Diniz, Jose Silveiro S. [Minas Gerais Univ., Belo Horizonte, MG (Brazil). Hospital de Clinicas

1998-03-01

Newborns with anomalies of the urinary tract detected by fetal echography were investigated. The purpose was to identify prevalent uropathies, clinical outcome and variables of prognostic significance in patients with fetal hydronephrosis. The patients were investigated by ultrasound, micturating cystourethrography and radionuclide imaging, after beginning of chemoprophylaxis. Renal function and urinary tract infection were also studied. Eight-three patients were included in this study, 54(65,1%) of these were boys. Postnatal predominant diagnosis were pelviureteric junction obstruction (3,3%) and multicytic kidney (15,7%). Follow-up average was 35 {+-} 2.5 months. Renal function deteriored in 8 children during follow-up. Worse prognosis was associated with prenatal diagnosis before third trimester of gestation, bilateral uropathy, oligohydrammios, abnormal palpable kidney or bladder, abnormal renal function on admission and urethral obstruction. (author) 40 refs., 3 figs.

A new phenomenon in the prenatal effects of harmful agents: total system teratogenesis

International Nuclear Information System (INIS)

Filyushkin, I.V.; Ignatov, A.N.

1997-01-01

Theoretical and experimental studies of the mechanism of induction of minor teratogenic effects were performed. Theoretical analysis of the mechanism of minor teratogenesis have utilized reliable facts, well established concepts of biomedical science, and also categories and language of the theory of complex systems. To check theoretical statement in the experiments 889 baby rats were obtained. Of them, 487 were prenatally irradiated with 2 Gy of gamma rays and 402 were nonirradiated controls. Indices of the CNS development indices of the immunity status development and indices of the endocrine development were studied along the course of postnatal development of prenatally irradiated rats comparatively to controls, with loading test also being used, such as sensitization with allogeneic protein, immobilization stress and acute irradiation. A mechanism through which prenatal exposure to radiation and any other agent affecting physical embryonic development leads to congenital CNS deficiencies is found theoretically and confirmed in animal experiment. In the frame of this mechanism, the ultimate effect of prenatal exposure to a deleterious agent is the distortion of the structure of the neuroimmunoendocrine regulation of a postnatal organism in the direction of the excessive development of is endocrine component and the (ontogenetically) successive coadaptive under development of nervous and immune components. 27 refs., 5 figs., 2 tabs

Major congenital anomalies in babies born with Down syndrome

DEFF Research Database (Denmark)

Morris, Joan K; Garne, Ester; Wellesley, Diana

2014-01-01

Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

[Postnatal diagnosis of gastric volvulus revealing congenital diaphragmatic hernia].

Science.gov (United States)

Aprahamian, A; Nouyrigat, V; Grévent, D; Hervieux, E; Chéron, G

2017-05-01

Postnatally diagnosed congenital diaphragmatic hernias (CDH) are rare and have a better prognosis than those diagnosed prenatally. Postnatal symptoms can be respiratory, digestive, or mixed. Gastric volvulus can reveal CDH. Symptoms are pain, abdominal distension, and/or vomiting. Upper gastrointestinal barium X-ray radiography provides the diagnosis. Prognosis is related to early surgical management in complicated forms with intestinal occlusion or sub-occlusion. We report on an infant who presented with vomiting, which revealed gastric volvulus associated with a CDH. Progression was favorable after surgical treatment. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Prenatal MRI in correlation with ultrasound

International Nuclear Information System (INIS)

Balev, B.; Baleva, D.; Ivanova, D.; Popova, R.

2012-01-01

Full text: Fetal MRI is an already established method in prenatal imaging, with complementary to US role. Most common considerations for fetal MRI are CNS anomalies and urogenital anomalies. Practically, the most frequent indication is ultrasonographically established ventriculomegaly. We introduce our experience in fetal MRI, presenting the distribution of pathological findings and our protocols. We have examined 33 fetuses for a 3-year period. Among these 13 cases were affected by CNS anomalies (neural tube defects, Dandy-Walker, cerebellar hypoplasia, agenesis of corpus callosum, aqueductal atresia, etc.), 11 fetuses are affected by urogenital anomalies (pieloureteral stenosis, VUR, renal agenesis, etc.), 5 with other pathology (congenital tumor, ovarian cysts, etc.) and 4 are normal fetuses. The findings in most interesting cases are reviewed; in some of them we present imaging-pathological correlation and/or follow up imaging. Main advantages of fetal MRI over US consist of acquiring objective and reproducible images, giving the opportunity of multiple expert-leveled reviews; exceptionally high detail concerning CNS-anatomy; additional confidence in excluding presence of concomitant anomalies; independence from calavarial ossification and maternal obesity. Ultrasound remains the main tool for prenatal imaging. MRI has similar sensitivity and higher specificity, thus serving as an arbitrage method and improving accuracy about outcome prognosis

Emotional and cognitive experiences during the time of diagnosis and decision-making following a prenatal diagnosis: a qualitative study of males presented with congenital heart defect in the fetus carried by their pregnant partner.

Science.gov (United States)

Carlsson, Tommy; Mattsson, Elisabet

2018-01-12

Expectant fathers consider the second-trimester obstetric ultrasound examination as an important step towards parenthood, but are ill prepared for a detection of a fetal anomaly. Inductive research is scarce concerning their experiences and needs for support. Consequently, the aim of this study was to explore the emotional and cognitive experiences, during the time of diagnosis and decision-making, among males presented with congenital heart defect in the fetus carried by their pregnant partner. Twelve expectant fathers were consecutively recruited through two tertiary referral centers for fetal cardiology in Sweden, after they had been presented with a prenatal diagnosis of congenital heart defect in the fetus carried by their pregnant partner. The respondents were interviewed via telephone, and the interviews were analyzed using inductive qualitative content analysis. The respondents experienced an intense emotional shock in connection with detection. However, they set their own needs aside to attend to the supportive needs of their pregnant partner, and stressed the importance of an informed joint decision regarding whether to continue or terminate the pregnancy. When terminating the pregnancy, they experienced a loss of a wanted child, an emotionally intense termination procedure, needs of support neglected by professionals, and worries about the risk of recurrence in future pregnancies. When continuing the pregnancy, they tried to keep a positive attitude about the coming birth, but were simultaneously worried about the postnatal situation. The findings illustrate the importance of inclusive care and adequate follow-up routines for both expectant parents following a prenatal diagnosis. This includes the initial emotional shock, the decisional process, and depending on decision reached, the termination or continuation of the pregnancy. Expectant fathers presented with a fetal anomaly need adequate follow-up routines to address worries about risk of recurrence

Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation.

Science.gov (United States)

Zanforlin Filho, Sebastião M; Guimarães Filho, Hélio A; Araujo Júnior, Edward; Pires, Cláudio R; Mattar, Rosiane; Nardozza, Luciano M M

2007-04-01

Sirenomelia sequence is a very rare congenital malformation, with incidence of around 1.5-4.2 per 100,000 births. Prenatal diagnosis of sirenomelia in the first trimester is rare; there are only five cases reported for the present, and the association of sirenomelia with acardiac malformation is even rarer. We present a rare case of sirenomelia associated with acardiac malformation detected in the first trimester through combined two-dimensional, three-dimensional and color Doppler sonographies.

Prenatal diagnosis and prevention of toxoplasmosis in pregnant women in Northern Vietnam: study protocol.

Science.gov (United States)

Smit, G Suzanne A; Vu, Thi Lam Binh; Do, Trung Dung; Speybroeck, Niko; Devleesschauwer, Brecht; Padalko, Elizaveta; Roets, Ellen; Dorny, Pierre

2017-05-25

In Vietnam, no systematic prenatal toxoplasmosis screening is in place, and only few studies have assessed the prevalence and importance of this zoonotic parasite infection. In addition, no studies have been conducted to assess the risk factors associated with toxoplasmosis. This study protocol was developed to determine the seroprevalence of toxoplasmosis in pregnant women in Hanoi and Thai Binh, Northern Vietnam, and to evaluate the association with risk factors and congenital toxoplasmosis. The protocol was developed in a way that it could potentially evolve into a countrywide prenatal diagnosis and prevention program, with the main focus on primary prevention. The collaborating gynaecologists will invite eligible pregnant women attending antenatal care for the first time to participate in the study. At first consult, information about toxoplasmosis and its prevention will be provided. All participants will be asked to fill in a questionnaire, which is designed to analyse socio-demographic and biologically plausible risk factors associated with toxoplasmosis, and blood samples will be collected to determine the seroprevalence of toxoplasmosis in pregnant women. In case there is suspicion of a primary infection during pregnancy, the concerned women will be followed-up by the gynaecologists according to a predefined protocol. Every participant will be informed on her serological status, risk factors and prevention measures and is offered appropriate medical information and medical follow-up if required. The hypothesis is that congenital toxoplasmosis is an important but currently under-diagnosed public health problem in Vietnam. This study can strengthen sustainable control of toxoplasmosis in Vietnam, provide a protocol for prenatal diagnosis, boost overall awareness, improve the knowledge about toxoplasmosis prevention and can be essential for evidence-based health policy.

Comparison of Clinico-Radiological Features between Congenital Cystic Neuroblastoma and Neonatal Adrenal Hemorrhagic Pseudocyst

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Eo, Hong; Kim, Ji Hye; Jang, Kyung Mi; Yoo, So Young [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Lim, Gye Yeon [St. Mary' s Hospital Catholic University, Seoul (Korea, Republic of); Kim, Myung Joon [Severance Hospital Yonsei University, Seoul (Korea, Republic of); Kim, Ok Hwa [Ajou University Hospital, Suwon (Korea, Republic of)

2011-02-15

To evaluate the radiological and clinical findings of congenital cystic neuroblastomas as compared with those of the cystic presentation of neonatal adrenal hemorrhage. We analyzed the US (n = 52), CT (n = 24), and MR (n = 4) images as well as the medical records of 28 patients harboring congenital cystic neuroblastomas (n = 16) and neonatal adrenal hemorrhagic pseudocysts (n = 14). The history of prenatal detection, location, size, presence of outer wall enhancement, internal septations, solid portion, calcification, turbidity, vascular flow on a Doppler examination, and evolution patterns were compared in two groups of cystic lesions, by Fischer's exact test. All (100%) neuroblastomas and three (21%) of the 14 hemorrhagic pseudocysts were detected prenatally. Both groups of cystic lesions occurred more frequently on the right side; 11 of 16 (69%) for neuroblastomas and 11 of 14 (79%) for hemorrhagic pseudocysts. The size, presence of solid portion, septum, enhancement, and turbidity did not differ significantly (p > 0.05) between the two groups of cystic lesions. However, tiny calcifications (n = 3) and vascular flow on color Doppler US (n = 3) were noted in only neuroblastomas. The cystic neuroblastomas became complex solid and cystic masses, and did not disappear for up to 90 days in the three following cases, whereas 11 of the 14 (79%) hemorrhagic pseudocysts disappeared completely and the three remaining (27%) evolved to calcifications only. Although the imaging findings of two groups of cystic lesions were similar, prenatal detection, the presence of calcification on initial images, vascularity on color Doppler US, and evolution to a more complex mass may all favor neuroblastomas

Comparison of Clinico-Radiological Features between Congenital Cystic Neuroblastoma and Neonatal Adrenal Hemorrhagic Pseudocyst

International Nuclear Information System (INIS)

Eo, Hong; Kim, Ji Hye; Jang, Kyung Mi; Yoo, So Young; Lim, Gye Yeon; Kim, Myung Joon; Kim, Ok Hwa

2011-01-01

To evaluate the radiological and clinical findings of congenital cystic neuroblastomas as compared with those of the cystic presentation of neonatal adrenal hemorrhage. We analyzed the US (n = 52), CT (n = 24), and MR (n = 4) images as well as the medical records of 28 patients harboring congenital cystic neuroblastomas (n = 16) and neonatal adrenal hemorrhagic pseudocysts (n = 14). The history of prenatal detection, location, size, presence of outer wall enhancement, internal septations, solid portion, calcification, turbidity, vascular flow on a Doppler examination, and evolution patterns were compared in two groups of cystic lesions, by Fischer's exact test. All (100%) neuroblastomas and three (21%) of the 14 hemorrhagic pseudocysts were detected prenatally. Both groups of cystic lesions occurred more frequently on the right side; 11 of 16 (69%) for neuroblastomas and 11 of 14 (79%) for hemorrhagic pseudocysts. The size, presence of solid portion, septum, enhancement, and turbidity did not differ significantly (p > 0.05) between the two groups of cystic lesions. However, tiny calcifications (n = 3) and vascular flow on color Doppler US (n = 3) were noted in only neuroblastomas. The cystic neuroblastomas became complex solid and cystic masses, and did not disappear for up to 90 days in the three following cases, whereas 11 of the 14 (79%) hemorrhagic pseudocysts disappeared completely and the three remaining (27%) evolved to calcifications only. Although the imaging findings of two groups of cystic lesions were similar, prenatal detection, the presence of calcification on initial images, vascularity on color Doppler US, and evolution to a more complex mass may all favor neuroblastomas

Outcome for Fetuses with Prenatally Detected Congenital Heart Disease and Cardiac Arrhythmias in Taiwan

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Sheng-Mou Hsiao

2007-01-01

Conclusion: Outcome for fetuses with prenatally detected CHD remains poor, with the prognosis negatively influenced by the presence of complex heart defects as well as extracardiac and chromosomal anomalies. However, prognosis is good for fetuses with cardiac arrhythmia, except with long QT syndrome or hydrops fetalis.

Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects.

Science.gov (United States)

Wilson, R Douglas

2014-10-01

To provide obstetrical and genetic health care practitioners with guidelines and recommendations for prenatal screening, diagnosis, and obstetrical management of fetal open and closed neural tube defects (OCNTD). This review includes prenatal screening and diagnostic techniques currently being used for the detection of OCNTD including maternal serum alpha fetoprotein screening, ultrasound, fetal magnetic resonance imaging, and amniocentesis. To improve prenatal screening, diagnosis, and obstetrical management of OCNTD while taking into consideration patient care, efficacy, cost, and care procedures. Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in November, 2013, using appropriate controlled vocabulary and key words (e.g., prenatal screening, congenital anomalies, neural tube defects, alpha fetoprotein, ultrasound scan, magnetic resonance imaging). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English from 1977 to 2012. Searches were updated on a regular basis and incorporated in the guideline to November 30, 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. An online survey of health care practitioners was also reviewed. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table). This review will provide health care practitioners with a better understanding of the available prenatal screening methods for OCNTD and the benefits and risks associated with each technique to allow evidenced-based decisions on OCNTD screening, diagnosis, and obstetrical management.

Retroperitoneal laparoscopy management for ureteral fibroepithelial polyps causing hydronephrosis in children: a report of five cases.

Science.gov (United States)

Dai, L N; Chen, C D; Lin, X K; Wang, Y B; Xia, L G; Liu, P; Chen, X M; Li, Z R

2015-10-01

Hydronephrosis is a common disease in children and may be caused by ureteral fibroepithelial polyps (UFP). Ureteral fibroepithelial polyps are rare in children and are difficult to precisely diagnose before surgery. Surgical treatment for symptomatic UFP is recommended. At the present institution, retroperitoneal laparoscopy has been used to treat five boys with UFP since 2006. To highlight the significance of UFP as an etiological factor of hydronephrosis in children and evaluate the applicative value of retroperitoneal laparoscopy in the treatment of children with UFP. Between 2006 and 2013 five boys underwent retroperitoneal laparoscopy at the present institution. They were identified with UFP by review of the clinical database. Detailed data were collected, including: radiographic studies, gross anatomical pathology, and pathology and radiology reports. All boys had been followed up at least every 6 months. All of the boys were aged between 7 and 16 years (mean 9.8 years). The main symptoms were flank pain (all five) and hematuria (three). Radiographic examination showed that all of the boys presented with incomplete ureteral obstruction and hydronephrosis. The ureteral fibroepithelial polyps were located near the left UPJ or the left proximal ureter. All of the boys had the UFP removed: three underwent retroperitoneal laparoscopic dismembered Anderson-Hynes pyeloplasty and polypectomy, and two had retroperitoneal laparoscopic ureteral anastomosis. These polyps were all on the left side and between 15 and 35 mm in length (mean 22 mm) (Figure). All of the boys recovered well and were discharged from hospital. The postoperative histological report confirmed that the specimens were UFP. Hydronephrosis was periodically assessed by ultrasonography (using the same method as pre-surgical ultrasonography) after surgery. Mean follow-up was 33 months (range 6-58 months) and no complications were found afterwards. Ureteral fibroepithelial polyps are rare but rather

Assessment of paediatric hydronephrosis using output efficiency

International Nuclear Information System (INIS)

Saundres, C.A.B.; Choong, K.K.L.; Gruenewald, S.M.

1998-01-01

Full text: Diuretic renography is an important tool in the evaluation of paediatric hydronephrosis. Recently a newly developed parameter, output efficiency (OE) has allowed normalisation of washout according to renal function. We retrospectively reviewed the diagnostic accuracy of OE in 56 children (70 hydronephrotic kidneys). There were 16 females and 41 males (mean age 1.4 years, range 3 weeks-12 years). Diuretic renography ( 99m Tc-MAG3) was performed using i.v. volume expansion (15 mL/kg), frusemide diuresis (1mg/kg) and urethral catheterisation if VUR was present. Final diagnosis was made using surgery (n = 15) or clinical outcome (n = 42). Clinical follow up exceeded one year and included repeat MAG3 scan (n = 20), resolving hydronephrosis on ultrasound (n = 15) or percutaneous antegrade pyelogram (n = 1). Initial scans were classified as obstructed (n 13), indeterminate (n = 13) or non obstructed (n = 30) based on standard qualitative and quantitative criteria. Using a normal range of >84%, OE correctly predicted 12/13 (92%) obstructed kidneys and 44/44 non-obstructed kidneys (100%). In the indeterminate group, three kidneys developed obstruction at follow -up and 10 became non obstructed. Initial OE predicted outcome in two and four kidneys respectively. Overall, OE sensitivity and specificity were 88% and 89%. In the subgroup of patients (n = 19) with reduced differential function (<40%) the sensitivity of OE was 100% and specificity was 75%. This compares to 83% and 66% for Tl/2 in this subgroup. Therefore OE is a useful marker of renal outflow tract obstruction and maybe superior to other parameters such as Tl/2 particularly when renal function is reduced

Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21

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Ori Shen

2014-04-01

Full Text Available The aim of this study was to examine if isolated fetal ventricular septal defect (VSD is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other major anomalies, soft signs for trisomy 21 or a positive screen test for trisomy 21 were excluded. Ninety two cases formed the study group. None of the cases in the study group had trisomy 21. The upper limit of prevalence for trisomy 21 in isolated VSD is 3%. When prenatal VSD is not associated with other major anomalies, soft markers for trisomy 21 or a positive nuchal translucency or biochemical screen, a decision whether to perform genetic amniocentesis should be individualized. The currently unknown association between isolated VSD and microdeletions and microduplications should be considered when discussing this option.

Diuretic 99mTc DTPA renography in assessment of renal function and drainage in infants with antenatally detected hydronephrosis.

Science.gov (United States)

Radulović, Marija; Pucar, Dragan; Jauković, Ljiljana; Sisić, Marija; Krstić, Zoran; Ajdinović, Boris

2015-12-01

The controversy over the postnatal management of infants with antenataly detected hydronephrosis (ANH) still exists. We presented the results of diuretic 99mTc diethylenetriamine pentaacetic acid (DTPA) renography in 30 infants with the antenatal diagnosis of unilateral renal pelvic dilatation. The aim of this study was to assess the renal function determined by the pattern of drainage and split renal function (SRF) on diuretic renography and to correlate these findings with anteroposterior pelvic diameter (APD) estimated by ultrasonography. A total of 30 infants with 60 renal units (RU) (25 boys and 5 girls, median age 6.0 months, range 2-24) presented with unilateral hydronephrosis on ultrasound in the newborn period, underwent DTPA diuretic renal scintigraphy (F+15 protocol). The median APD evaluated on perinatal ultrasound was 15 mm (range 5-30). The postnatal associated clinical diagnosis were pelviureteric junction obstruction (PUJ), simple hydronephrosis, megaureter, vesicoureteral reflux (VUR) and posterior urethral valves in 11, 10, 6, 2 and 1 infant, respectively. Images and Tmax/2 after diuretic stimulation on the background subtracted renographic curves were used as the criteria for classifying the drainage as good, partial, and poor or no drainage. The SRF was calculated with the integral method. Good drainage was shown in 36/60, partial drainage in 13/60 and poor or no drainage in 11/60 RU. The SRF > 40% was observed in 55/60 RU, with no RU showing SRF lower than 23.5%. In infants with severe ANH the obstruction was not excluded in 94.1%. Diuretic renography in antenatally detected hydronephrosis should be a useful tool in postnatal follow up, especially in differentiating nonobstructive hydronephrosis from obstructive. It is also importanat to assess and monitor the SRF. Our results suggest that even in the presence of partial or no drainage, SRF may not be significantly impaired.

Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

Science.gov (United States)

Casaccia, Germana; Mobili, Luisa; Braguglia, Annabella; Santoro, Francesco; Bagolan, Pietro

2006-03-01

Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Copyright 2006 Wiley-Liss, Inc.

Prenatal detection of congenital renal malformations by fetal ultrasonographic examination : An analysis of 709,030 births in 12 European countries

NARCIS (Netherlands)

Wiesel, A.; Queisser-Luft, A.; Clementi, M.; Bianca, S.; Stoll, C.; de Walle, H.E.K.

2005-01-01

The study was performed to evaluate the prevalence of prenatal ultrasound diagnoses for renal anomalies in 20 registries of 12 European countries, and to compare the different prenatal scanning policies. Standardized data were acquired from 709,030 livebirths, stillbirths, and induced abortions

An experimental study on recovery of renal function using 99mTc DMSA scintigram after percutaneous nephrostomy in unilateral hydronephrosis

International Nuclear Information System (INIS)

Moon, Tae Yong; Nam, Sang Hwa; Park, Jong Yeon; Kim, Byung Soo

1992-01-01

Obstruction on the urinary tract eventually results in damage to the kidneys and lose of function. The questions that concern the clinician are the degree of nephron loss in that kidney and potential for recovery following the relief of obstruction. 99m Tc DMSA accumulates in tubule cells and has been proposed as a marker of the tubular mass. The authors estimated the renal uptake ratio of 99m Tc DMSA for the degree of nephron loss corresponding to duration of hydronephrosis following left ureteral ligation in 5 New Zealand white rabbits and the potential for recovery following percutaneous nephrostomy of hydronephrosis in 24 rabbits. While the renal uptake ratio of 99m Tc DMSA of the kidney with unilateral hydronephrosis following ureteral ligation reduced dramatically within 24 hour, that of the opposite healthy kidney increased, and the total renal uptake ratio was same as normal functioning kidneys before ureteral ligation. Upon ureteral release, there was no evidence of definite recovery or impairment in the experimental kidneys for 5 days. The authors conclude that a combination of ureteral release and administration of some drugs such as renal vasodilator or diuretics is an appropriate treatment for the recovery of function in unilateral hydronephrosis

Robot-assisted laparoscopic pyeloureterostomy in infants with duplex systems and upper pole hydronephrosis: Variations in double-J ureteral stenting techniques.

Science.gov (United States)

Baek, Minki; Au, Jason; Huang, Gene O; Koh, Chester J

2017-04-01

We describe our experience with robot-assisted laparoscopic (RAL) pyeloureterostomy in infants with duplex systems and upper pole hydronephrosis with an emphasis on the various double J (DJ) ureteral stent placement techniques. We used our RAL pyeloureterostomy technique in two female infants with duplex systems and upper pole hydronephrosis. For case 1, we introduced the DJ stent and placed it in the recipient lower pole ureter during the robotic operation in an antegrade fashion. For case 2, we inserted the DJ stent during retrograde pyelography prior to the robotic procedure in a retrograde fashion, and the proximal portion of the stent was placed across the anastomosis into the upper pole renal pelvis. Postoperatively, each of the patients were discharged on postoperative day 1 without complications. The postoperative renal ultrasound at 3 months demonstrated marked improvement of the right upper pole hydronephrosis in both patients. RAL pyeloureterostomy represents a minimally invasive option for upper tract reconstruction of duplex systems with upper pole hydronephrosis in infants. The DJ stent can be placed at the beginning or during the procedure. The stent can be placed in the lower pole ureter or across the anastomosis into the upper pole renal pelvis. Copyright © 2017 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities.

Science.gov (United States)

Marantz, Pablo; Sáenz Tejeira, M Mercedes; Peña, Gabriela; Segovia, Alejandra; Fustiñana, Carlos

2013-10-01

Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

Deletion of the miR-143/145 Cluster Leads to Hydronephrosis in Mice

Science.gov (United States)

Medrano, Silvia; Sequeira-Lopez, Maria Luisa S.; Gomez, R. Ariel

2015-01-01

Obstructive nephropathy, the leading cause of kidney failure in children, can be anatomic or functional. The underlying causes of functional hydronephrosis are not well understood. miRNAs, which are small noncoding RNAs, regulate gene expression at the post-transcriptional level. We found that miR-145-5p, a member of the miR-143/145 cluster that is highly expressed in smooth muscle cells of the renal vasculature, was present in the pelvicalyceal system and the ureter. To evaluate whether the miR-143/145 cluster is involved in urinary tract function we performed morphologic, functional, and gene expression studies in mice carrying a whole-body deletion of miR-143/145. miR-143/145–deficient mice developed hydronephrosis, characterized by severe papillary atrophy and dilatation of the pelvicalyceal system without obvious physical obstruction. Moreover, mutant mice showed abnormal ureteral peristalsis. The number of ureter contractions was significantly higher in miR-143/145–deficient mice. Peristalsis was replaced by incomplete, short, and more frequent contractions that failed to completely propagate in a proximal-distal direction. Microarray analysis showed 108 differentially expressed genes in ureters of miR-143/145–deficient mice. Ninety genes were up-regulated and 18 genes were down-regulated, including genes with potential regulatory roles in smooth muscle contraction and extracellular matrix-receptor interaction. We show that miR-143/145 are important for the normal peristalsis of the ureter and report an association between the expression of these miRNAs and hydronephrosis. PMID:25307343

Congenital bronchopulmonary malformation: CT histopathological correlation.

Science.gov (United States)

Kyncl, Martin; Koci, Martin; Ptackova, Lea; Hornofova, Ludmila; Ondrej, Fabian; Snajdauf, Jiri; Pychova, Marcela

2016-12-01

This study evaluated the accuracy of postnatal computed tomography (CT) imaging in the identification of congenital bronchopulmonary malformation (BPM) in comparison with histopathological analysis. CT scans of prenatally diagnosed BPMs from 24 patients with available histology were analysed retrospectively. The CT images were reviewed blinded to histological findings by two radiologists. Specific diagnosis was assigned based on predetermined criteria. The accuracy of CT was evaluated. The agreement rate in CT diagnosis between two radiologists was 100%. In 75% the lesions were located in the lower lobes. An overlap of 71% in CT and histopathological diagnoses was reached. The least matching diagnosis was type 2 CPAM. Contrast enhanced chest CT is very accurate in characterizing the BPM spectrum and provides important information on lesion type and structure.

Prenatal androgen exposure and children's aggressive behavior and activity level.

Science.gov (United States)

Spencer, Debra; Pasterski, Vickie; Neufeld, Sharon; Glover, Vivette; O'Connor, Thomas G; Hindmarsh, Peter C; Hughes, Ieuan A; Acerini, Carlo L; Hines, Melissa

2017-11-01

Some human behaviors, including aggression and activity level, differ on average for males and females. Here we report findings from two studies investigating possible relations between prenatal androgen and children's aggression and activity level. For study 1, aggression and activity level scores for 43 girls and 38 boys, aged 4 to 11years, with congenital adrenal hyperplasia (CAH, a genetic condition causing increased adrenal androgen production beginning prenatally) were compared to those of similarly-aged, unaffected relatives (41 girls, 31 boys). Girls with CAH scored higher on aggression than unaffected girls, d=0.69, and unaffected boys scored higher on activity level than unaffected girls, d=0.50. No other group differences were significant. For study 2, the relationship of amniotic fluid testosterone to aggression and activity level was investigated in typically-developing children (48 girls, 44 boys), aged 3 to 5years. Boys scored higher than girls on aggression, d=0.41, and activity level, d=0.50. However, amniotic fluid testosterone was not a significant predictor of aggression or activity level for either sex. The results of the two studies provide some support for an influence of prenatal androgen exposure on children's aggressive behavior, but not activity level. The within-sex variation in amniotic fluid testosterone may not be sufficient to allow reliable assessment of relations to aggression or activity level. Copyright © 2017 Elsevier Inc. All rights reserved.

Rupture of the renal pelvis of a ureteropelvic junction hydronephrosis after blunt abdominal trauma

International Nuclear Information System (INIS)

Ashebu, Samuel D.; Dahniya, Mohamed H.; Aduh, Prosper; Ramadan, Salwa; Bopaiah, Harini; Elshebiny, Yahaya H.

2004-01-01

In the present case report, we present the unusual occurrence of traumatic rupture of a ureteropelvic junction hydronephrosis, and discuss the potential mechanisms producing such a rupture and the management options Copyright (2004) Blackwell Publishing Asia Pty Ltd

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p- in association with congenital hypospadias and foot deformity

Directory of Open Access Journals (Sweden)

Ermis Hayri

2003-01-01

Full Text Available Abstract Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-. We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. Case Presentation A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4(p14 karyotype. Conclusion The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity

Science.gov (United States)

Aslan, Halil; Karaca, Nilay; Basaran, Seher; Ermis, Hayri; Ceylan, Yavuz

2003-01-01

Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. Case Presentation A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype. Conclusion The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome. PMID:12546710

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Science.gov (United States)

Nahar, Risha; Puri, Ratna D; Saxena, Renu; Verma, Ishwar C

2013-01-01

Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis. Copyright © 2012 Wiley Periodicals, Inc.

MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

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Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi [Dokkyo Medical University, Department of Radiology, Mibu, Shimotsuga-gun, Tochigi (Japan); Watanabe, Hiroshi [Dokkyo Medical University, Department of Obstetrics and Gynecology, Mibu (Japan); Watabe, Yoshiyuki; Suzumura, Hiroshi [Dokkyo Medical University, Department of Pediatrics, Mibu (Japan)

2008-03-15

Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

International Nuclear Information System (INIS)

Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi; Watanabe, Hiroshi; Watabe, Yoshiyuki; Suzumura, Hiroshi

2008-01-01

Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

Delayed Partial Nephrectomy for Hydronephrosis After Renal Trauma.

Science.gov (United States)

Setia, Shaan; Jackson, Jessica Nicole; Herndon, C D Anthony; Corbett, Sean T

2017-03-01

Delayed sequelae following conservative management of renal trauma in the pediatric population are uncommon. Reports of delayed operations to manage these sequelae are even less common. Here we present the case of a 16-year-old male patient who had delayed development of upper urinary tract obstruction with recurrent infections following high-grade renal trauma managed conservatively. Ultimately, he required a robotic-assisted partial nephrectomy 2 years after initial nonoperative management. This is unique as no prior studies to our knowledge have described delayed hydronephrosis and delayed partial nephrectomy over a year following renal trauma. Copyright © 2016 Elsevier Inc. All rights reserved.

Prune Belly Syndrome | Hammond | South African Medical Journal

African Journals Online (AJOL)

Two cases of prune belly syndrome in Black infants are presented. The prune belly syndrome, or congenital absence of abdominal muscles, is accompanied by hydro-ureter, hydronephrosis, megalocystis and usually undescended testes. Other associated congenital defects occur, of which orthopaedic defects appear to be ...

Gestational and congenital syphilis: maternal, neonatal characteristics and outcome of cases

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Larissa Gramazio Soares

Full Text Available Abstract Objectives: to describe the occurrence of gestational and congenital syphilis in Guarapuava-PR, according to maternal, neonatal characteristics and outcome of cases. Methods: cross-sectional study, retrospective, held in Guarapuava/PR, with secondary data collected in the laboratory of clinical analyses and information system of Compulsory Notification, collected between October 2015 and August/2016, the variables were described through absolute and relative frequencies. Results: of the 40 newborn (NB children ofpregnant women with syphilis, 30.0% had congenital syphilis. The variables that were associated with were: gestational quarter of positive examination (p=0.008, number of antenatal consultations (p=0.041, gestational risk stratification (p= 0.041 and treatment of partner (p<0.001. The variables that were associated with the occurrence of congenital syphilis were: risk classification at birth (p=0.004 and examination VDRL in the peripheral blood of the NB (p=0.004. Conclusions: reinforcing prenatal, with the early capture of the pregnant woman by basic care, expansion of the diagnostic coverage and timely and adequate treatment of the pregnant woman and partner, as a prophylactic measure of a possible reinfection.

Magnetic resonance imaging of the fetus in congenital intrathoracic disorders: preliminary observations

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Liu Xiang; Ashtari, M.; Leonidas, J.C. [Dept. of Radiology, Schneider Children' s Hospital, Long Island Jewish Medical Center, NY (United States); Chan Ying [Fetal-Maternal Medicine, Schneider Children' s Hospital, Long Island Jewish Medical Center, and the Albert Einstein College of Medicine, NY (United States)

2001-06-01

Background and objective. Advances in magnetic resonance imaging (MRI) provide high-quality images of the intrathoracic organs. We studied the ability of MRI to define spatial relationships of the fetal lungs and measured lung volume in two cases of congenital diaphragmatic hernia (CDH), one of severe oligohydramnios secondary to bilateral cystic renal dysplasia and one case of prenatal chylothorax. Patients and methods. We performed pelvic MRI using single-shot fast spin echo (SSFSE) pulse sequence in four pregnant women referred because of abnormal prenatal ultrasound (US) findings associated with pulmonary hypoplasia. Results. The exact anatomic position of the contents of the hernia in CDH, including the position of the liver, was better defined with MRI. Pleural effusions were identified as well as the renal abnormality in the case of oligohydramnios. Lung volume was measured and the degree of pulmonary hypoplasia was quantified in every case. Lung-to-thorax ratio was calculated in the case of fetal chylothorax. Conclusion. Ongoing work suggests that MRI can provide additional detailed quantitative information in prenatal disorders associated with fetal lung compression and resulting hypoplasia. Correlation of fetal lung volume with postnatal management and outcome may affect prognosis in these cases. (orig.)

Magnetic resonance imaging of the fetus in congenital intrathoracic disorders: preliminary observations

International Nuclear Information System (INIS)

Liu Xiang; Ashtari, M.; Leonidas, J.C.; Chan Ying

2001-01-01

Background and objective. Advances in magnetic resonance imaging (MRI) provide high-quality images of the intrathoracic organs. We studied the ability of MRI to define spatial relationships of the fetal lungs and measured lung volume in two cases of congenital diaphragmatic hernia (CDH), one of severe oligohydramnios secondary to bilateral cystic renal dysplasia and one case of prenatal chylothorax. Patients and methods. We performed pelvic MRI using single-shot fast spin echo (SSFSE) pulse sequence in four pregnant women referred because of abnormal prenatal ultrasound (US) findings associated with pulmonary hypoplasia. Results. The exact anatomic position of the contents of the hernia in CDH, including the position of the liver, was better defined with MRI. Pleural effusions were identified as well as the renal abnormality in the case of oligohydramnios. Lung volume was measured and the degree of pulmonary hypoplasia was quantified in every case. Lung-to-thorax ratio was calculated in the case of fetal chylothorax. Conclusion. Ongoing work suggests that MRI can provide additional detailed quantitative information in prenatal disorders associated with fetal lung compression and resulting hypoplasia. Correlation of fetal lung volume with postnatal management and outcome may affect prognosis in these cases. (orig.)

Prenatal Diagnosis

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Ozge Ozalp Yuregir

2012-02-01

Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

The role of color and power Doppler ultrasound in the prenatal diagnosis of sirenomelia.

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Patel, S; Suchet, I

2004-11-01

Sirenomelia is a rare congenital abnormality characterized by a variety of anomalies involving the lower limbs, severe oligohydramnios, bilateral renal agenesis, anorectal atresia and aberrant fetal vasculature. The prenatal diagnosis and differentiation from isolated bilateral renal agenesis is severely limited by the accompanying oligohydramnios that hinders visualization of fetal anatomy. We present three prospectively assessed cases of sirenomelia, two of which had bilateral renal agenesis, and all of which had a single umbilical artery derived from the aberrant vasculature that accompanies the syndrome.

Magnetic resonance urography in the assessment of hydronephrosis and hydroureter in children

International Nuclear Information System (INIS)

Hadjidekov, V.

2011-01-01

MR urography is a new, modern modality for evaluation of various urological abnormalities in children. The goal of this article is to describe the role of MR urography in the assessment of hydronephrosis and hydroureters. MRU is most commonly applied to the evaluation of hydronephrosis and provides valuable insight into a wide range of obstructive uropathies. In our study we investigate 96 children with suspected abnormalities of the upper urinary tract. Using static and excretory MRU we obtain both morphological and functional information by means of different sequences with or without injection of gadolinium. MR urography is promising diagnostic method of wide spectrum of pathological conditions affecting the urinary tract with potential to revolutionize uroradiology imaging in children. It integrates exquisite anatomical information with a variety of functional data and avoids ionizing radiation. MRU is increasingly employed as a problem solver when conventional imaging studies remain inconclusive and overcomes a lot of their limitations with the potential to become in the future leading modality to diagnose diseases of the kidney especially in newborns and children. (authors)

An experimental study on recovery of renal function using {sup 99m}Tc DMSA scintigram after percutaneous nephrostomy in unilateral hydronephrosis

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Moon, Tae Yong; Nam, Sang Hwa; Park, Jong Yeon; Kim, Byung Soo [College of Medicine, Pusan National University, Pusan (Korea, Republic of)

1992-07-15

Obstruction on the urinary tract eventually results in damage to the kidneys and lose of function. The questions that concern the clinician are the degree of nephron loss in that kidney and potential for recovery following the relief of obstruction. {sup 99m}Tc DMSA accumulates in tubule cells and has been proposed as a marker of the tubular mass. The authors estimated the renal uptake ratio of {sup 99m}Tc DMSA for the degree of nephron loss corresponding to duration of hydronephrosis following left ureteral ligation in 5 New Zealand white rabbits and the potential for recovery following percutaneous nephrostomy of hydronephrosis in 24 rabbits. While the renal uptake ratio of {sup 99m}Tc DMSA of the kidney with unilateral hydronephrosis following ureteral ligation reduced dramatically within 24 hour, that of the opposite healthy kidney increased, and the total renal uptake ratio was same as normal functioning kidneys before ureteral ligation. Upon ureteral release, there was no evidence of definite recovery or impairment in the experimental kidneys for 5 days. The authors conclude that a combination of ureteral release and administration of some drugs such as renal vasodilator or diuretics is an appropriate treatment for the recovery of function in unilateral hydronephrosis.

Fetal adrenal gland enlargement - prenatal and postnatal management.

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Lackova, Eliska; Cunderlik, Anton; Ticha, Lubica; Gabor, Maria

2017-11-01

The enlargement of suprarenal gland is related to preterm birth and the birth weight. The ultrasound measurement of fetal adrenal gland volume may identify women at risk for impending preterm birth. The aim of our study was to investigate the newborns in the region of western Slovakia followed up due to suprarenal gland enlargement. To set the ratio of prenatally diagnosed suprarenal gland enlargment, postnatal managment and treatment and interventions. The newborns with congenital adrenal hyperplasia were excluded. We have analyzed 6 years of medical records of all cases from the western Slovakia region of suprarenal gland enlargement encountered to 1st Pediatric Department, Children's University Hospital Bratislava Republic in the time period of January 2010 to Janurary 2016. The diagnosis of suprarenal gland enlargement was set by ultrasound examination performed on the 4th postnatal day as an overall screening test. Newborns with positive laboratory screening on congenital adrenal hyperplasia (CAH) were excluded from our study. We analyzed the origin of surarenal gland enlargement, gestation week on the due date, the birth weight and other comorbidities and genetic pathologies in newborns with the enlarged suprarenal glands. There were 6 newborns followed up due to suprarenal gland enlargement. All of the patients had diagnosed the adrenal haemorrhage. Adrenal lesions like adrenal cysts or neuroblastomas were not confirmed. All of the adrenal enlargements were benign with no need of other medical or surgical intervention. None of the newborn patients had other genetic abnormalities, mineral or hormonal imbalances, problems with arterial pressure or haemodynamic instability. All of the patients underwent at least 5 prenatal ultrasound tests and at least 2 postnatal ultrasound measurements. The avarage birth weight was 3030 grams (2700 grams - to 3750 grams). The avarage birth lenght was 50 cm (47 centimeter to 53 cm).The average gestation week (gw) on due date

Robot-assisted "Santosh-Post Graduate Institute tubularized flap pyelovesicostomy" in a solitary functioning kidney with giant hydronephrosis: A minimally invasive salvage procedure.

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Kumar, Santosh; Singh, Shivanshu; Kumar, Navneet

2016-03-01

We describe a case of a solitary functioning kidney with giant hydronephrosis secondary to ureteropelvic junction obstruction in a young girl who underwent successful robot-assisted tubularized flap pyelovesicostomy. The aim of this report was to highlight the feasibility and efficacy of this technique in salvaging such renal moieties and to present a brief review of the surgical options available for the management of giant hydronephrosis.

Sclerotherapy for a simple renal cyst causing hydronephrosis: A case report

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Kang, Ji Hun; Park, Sang Woo; Chang, Il Soo; Hwang, Jin Ho; Jung, Sung Il [Dept. Radiology, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul (Korea, Republic of)

2017-05-15

A simple renal cyst usually remains asymptomatic and requires no invasive treatment. Occasionally, however, some cysts may cause pain, hematuria, hypertension, or obstruction of the collecting system. We describe a case of a 50-year-old man who presented with hydronephrosis caused by an ipsilateral simple renal cyst without any stone or significant mass in the urinary system. The patient was eventually treated successfully with sclerotherapy.

Screening for congenital malformations by ultrasonography in the general population of pregnant women

DEFF Research Database (Denmark)

Tabor, Ann; Zdravkovic, Milica; Perslev, Annette

2003-01-01

. Fetuses with a prenatally undetected malformation were more often examined by more than one sonographer than fetuses without congenital malformations. Workload or monotony did not seem to affect the efficacy of screening. There was a trend towards a lower detection rate at midday and when most......OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were...... malformations were detected in 100 fetuses or infants, corresponding to an incidence of 1.3%. The prenatal DR was 60%. High maternal body mass index (BMI) was associated with a lower DR, while the presence of twins, the gestational age at time of screening and the sonographer's level of experience were not...

Radiological evaluation with Doppler sonography and multidetector CT angiography in congenital hepatic arteriovenous malformation in a newborn

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Adaletli, Ibrahim; Kurugoglu, Sebuh; Kilic, Fahrettin [Istanbul University, Department of Radiology, Cerrahpasa Medical Faculty (Turkey); Senyuz, Osman F. [Istanbul University, Department of Paediatric Surgery, Cerrahpasa Medical Faculty (Turkey); Dervisoglu, Sergulen [Istanbul University, Department of Pathology, Cerrahpasa Medical Faculty (Turkey)

2006-11-15

Although hepatic arteriovenous malformations are rarely reported, they frequently have life-threatening complications such as cardiac failure and are associated with a high mortality rate. Consequently, accurate prenatal and early postnatal diagnosis is important and therapeutic procedures depend on the imaging features. We report the early postnatal sonographic, Doppler sonographic, multidetector CT and CT angiography findings of a congenital hepatic arteriovenous malformation in a newborn. (orig.)

Radiological evaluation with Doppler sonography and multidetector CT angiography in congenital hepatic arteriovenous malformation in a newborn

International Nuclear Information System (INIS)

Adaletli, Ibrahim; Kurugoglu, Sebuh; Kilic, Fahrettin; Senyuz, Osman F.; Dervisoglu, Sergulen

2006-01-01

Although hepatic arteriovenous malformations are rarely reported, they frequently have life-threatening complications such as cardiac failure and are associated with a high mortality rate. Consequently, accurate prenatal and early postnatal diagnosis is important and therapeutic procedures depend on the imaging features. We report the early postnatal sonographic, Doppler sonographic, multidetector CT and CT angiography findings of a congenital hepatic arteriovenous malformation in a newborn. (orig.)

[Prevalence of birth defects according to the level of care in two hospitals, Cali, Colombia, 2012-2013].

Science.gov (United States)

Pachajoa, Harry; Villota, Vania A; Cruz, Luz Marina; Ariza, Yoseth

2015-01-01

Birth defects are morphologic alterations diagnosed prenatal or postnatally. Surveillance systems have been used to estimate the prevalence in high complexity care centers; however, the variation of the prevalence among different complexity care centers remains unknown. To compare the prevalence of birth defects among two different complexity care centers in Cali, Colombia. A descriptive hospital-based study following the methodology of the Latin American Collaborative Study of Congenital Malformations was conducted during 20 months in a medium complexity hospital and a high complexity hospital. During the study period, 7,140 births were attended of which 225 had at least one birth defect. The prevalence of these was of 1.7% (IC95% 1.3-2.0) and 7.4% (IC95% 6.2-8.7) for the medium complexity hospital and the high complexity hospital, respectively. The highest frequencies for the high complexity care center were: ventricular septal defect, 10%; congenital hydronephrosis, 7%; abdominal wall defects, 6%, and hydrocephalus, 5%, while for the medium complexity were: polydactyly, 15%; preauricular skin tags, 8%; congenital talipes equino varus, 7%, and hemangioma, 6%. The prevalence of birth defects among different complexity care centers varies in quantity, type and severity of the anomaly diagnosed. The surveillance of birth defects is a useful tool for any level of care. It allows estimating more accurately the prevalence of the city, as well being a base for the planning and targeting of resources according to the prevalence of different congenital defects.

The roles of serum and urinary carbohydrate antigen 19-9 in the management of patients with antenatal hydronephrosis.

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Atar, Arda; Oktar, Tayfun; Kucukgergin, Canan; Kalelioglu, Ibrahim; Seckin, Sule; Ander, Haluk; Ziylan, Orhan; Kadioglu, Teoman Cem

2015-06-01

Serum carbohydrate antigen (CA) 19-9 has been clinically applied as a valuable tumor marker for pancreatic and gastrointestinal carcinoma. CA 19-9 is expressed in normal excretory epithelium tissues. Increased CA 19-9 has also been observed in uroepithelial tumors as well as in nonmalignant conditions including hydronephrosis secondary to ureteral stones. The purpose of this article is to evaluate the role of urinary CA 19-9 as a non-invasive biomarker in the postnatal differentiation of obstructive and non-obstructive hydronephrosis in patients with unilateral antenatal hydronephrosis. Infants with isolated renal pelvic dilatation, defined as the presence of anteroposterior pelvic diameter (APPD) equal to or greater than 7 mm based on antenatal ultrasound after 28 weeks' gestation, underwent systematic investigation for uropathies and were prospectively followed up. The pyeloplasty group consisted of 17 patients with ureteropelvic junction (UPJ) obstruction who had undergone pyeloplasty. The non-obstructive dilatation (NOD) group consisted of 17 patients with non-obstructive hydronephrosis, and the control group consisted of 21 healthy children. Commercial enzyme-linked immunosorbent assay (ELISA) kits were used to measure the urinary and serum CA 19-9 levels. In both hydronephrosis groups (pyeloplasty and non-obstructive dilatation), the correlations between urinary and serum CA 19-9 levels with the anteroposterior pelvic diameter measured at the third trimester and the postnatal initial evaluation and differential renal function were investigated. The initial median urinary CA 19-9 levels were significantly greater in children who underwent pyeloplasty than in both the non-obstructive hydronephrosis (143 ± 38 vs. 68 ± 23, respectively; p = 0.007) and the healthy control groups (143 ± 38 vs. 13 ± 3, respectively; p = 0.001) (Figure). Three months after surgery, the urinary CA 19-9 levels had decreased significantly according to the preoperative levels in the

[Glomerular changes in the contralateral kidney in the rat with experimental hydronephrosis].

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Castillo Bernabéu, R; Gázquez Ortiz, A; Bonillo Morales, A; Sierra Planas, M A; Ocaña Losa, J M; Romanos Lezcano, A

1985-10-31

We have studied under optic and electronmicroscopes the alterations of glomeruli in contralateral kidneys of rats with experimental hydronephrosis. Forty-eight Wistar rats, divided into two groups (control and experimental) were used. They were sacrificed 3, 6, 9 and 12 days after ureteral obstruction. There was a slight hypertrophy of glomeruli and hiperplasia of other components accompanied by a increased development of podocytes.

Left atrial isomerism associated with asplenia: prenatal echocardiographic detection of complex congenital cardiac malformations

NARCIS (Netherlands)

Stewart, P. A.; Becker, A. E.; Wladimiroff, J. W.; Essed, C. E.

1984-01-01

Complex congenital heart disease with suspected isomerism of the atria was diagnosed in two fetuses of 20 and 29 weeks' gestation using two-dimensional and M-mode scanning techniques. The first pregnancy was terminated at 21 weeks' gestation and stillbirth occurred at 31 weeks' gestation in the

Use of renal resistive index and semi-rigid ureteroscopy for managing symptomatic persistent hydronephrosis during pregnancy.

Science.gov (United States)

Atar, Murat; Bozkurt, Yasar; Soylemez, Haluk; Penbegul, Necmettin; Sancaktutar, Ahmet Ali; Bodakci, Mehmet Nuri; Hatipoglu, Namik Kemal; Hamidi, Cihad; Ozler, Ali

2012-01-01

The aim of this study was to evaluate the use of Doppler ultrasonography (DUS) and semi-rigid ureteroscopy (URS) for managing symptomatic persistent hydronephrosis during pregnancy. The study included 19 pregnant patients with unilateral symptomatic persistent hydronephrosis. All pregnant patients were assessed with conventional ultrasonography (US) followed by DUS for both kidneys. The mean patient age was 26 years (range 19-40), and the gestational period was 24 weeks (range 16-33). There was a significantly higher mean resistive index in the kidneys with ureteral obstruction than in the contralateral normal kidneys. Spinal anesthesia was performed on 18 patients, while general anesthesia was performed on 1 patient. Endoscopically stones were found in 17 patients (89.5%), while no stone was found in 2 patients (10.5%). The stones were fragmented by holmium laser and retracted with forceps. After lithotripsy, a ureteral JJ stent was inserted in 8 of 17 (47%) patients with ureteral stones. Intraoperatively, there were no obstetric complications, while ureteral perforation was seen in one patient. Two patients are still pregnant at the time of this writing, and 17 babies were born normally. Both RI and ΔRI increase in unilateral symptomatic persistent hydronephrosis during pregnancy. Semi-rigid URS can be used successfully for diagnosis and treatment in these patients. Copyright © 2012 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.

Situs anomalies on prenatal MRI

International Nuclear Information System (INIS)

Nemec, Stefan F.; Brugger, Peter C.; Nemec, Ursula; Bettelheim, Dieter; Kasprian, Gregor; Amann, Gabriele; Rimoin, David L.; Graham, John M.; Prayer, Daniela

2012-01-01

Objective: Situs anomalies refer to an abnormal organ arrangement, which may be associated with severe errors of development. Due regard being given to prenatal magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US), this study sought to demonstrate the in utero visualization of situs anomalies on MRI, compared to US. Materials and methods: This retrospective study included 12 fetuses with situs anomalies depicted on fetal MRI using prenatal US as a comparison modality. With an MRI standard protocol, the whole fetus was assessed for anomalies, with regard to the position and morphology of the following structures: heart; venous drainage and aorta; stomach and intestines; liver and gallbladder; and the presence and number of spleens. Results: Situs inversus totalis was found in 3/12 fetuses; situs inversus with levocardia in 1/12 fetuses; situs inversus abdominis in 2/12 fetuses; situs ambiguous with polysplenia in 3/12 fetuses, and with asplenia in 2/12 fetuses; and isolated dextrocardia in 1/12 fetuses. Congenital heart defects (CHDs), vascular anomalies, and intestinal malrotations were the most frequent associated malformations. In 5/12 cases, the US and MRI diagnoses were concordant. Compared to US, in 7/12 cases, additional MRI findings specified the situs anomaly, but CHDs were only partially visualized in six cases. Conclusions: Our initial MRI results demonstrate the visualization of situs anomalies and associated malformations in utero, which may provide important information for perinatal management. Using a standard protocol, MRI may identify additional findings, compared to US, which confirm and specify the situs anomaly, but, with limited MRI visualization of fetal CHDs.

Extrinsic ureteropelvic junction obstruction from a crossing renal vessel: demography and imaging

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Rooks, V.J.; Lebowitz, R.L. [Children' s Hospital and Harvard Medical School, Dept. of Radiology, Boston, MA (United States)

2001-02-01

Background. The increase in the use of prenatal ultrasound has revolutionized the detection of hydronephrosis and has had an unanticipated consequence. Objective. To describe the new demographics of symptomatic ureteropelvic junction (UPJ) obstruction and the characteristic imaging findings, when the obstruction is extrinsic, from a crossing renal vessel. Materials and methods. From a uroradiology database (1994 through 1999) we identified children with surgically corrected UPJ obstruction from intrinsic and extrinsic causes. Results. One hundred children had symptomatic UPJ obstruction treated by surgery. In 51 (49 %), obstruction was due to a crossing vessel. One hundred and one had UPJ obstruction detected by prenatal sonography. Only 11 (11 %) were due to a vessel. Two clinical and imaging findings were strongly suggestive of obstruction from a vessel: (1) in 5 of the 100 children the symptoms (pain, nausea, and vomiting) were intermittent. Only when symptoms were present were there hydronephrosis and obstruction; (2) in 51 of the 100 children a short segment of ureter, just below the UPJ, was filled with contrast or urine (on renal sonography, intravenous urography, or retrograde/antegrade ureterography). Conclusions. Extrinsic UPJ obstruction caused by a vessel is an uncommon cause of obstruction when all patients are considered. However, in symptomatic older patients whose hydronephrosis was not first identified on prenatal sonography, a vessel was the cause of obstruction in one-half. (orig.)

Group prenatal care.

Science.gov (United States)

Mazzoni, Sara E; Carter, Ebony B

2017-06-01

Patients participating in group prenatal care gather together with women of similar gestational ages and 2 providers who cofacilitate an educational session after a brief medical assessment. The model was first described in the 1990s by a midwife for low-risk patients and is now practiced by midwives and physicians for both low-risk patients and some high-risk patients, such as those with diabetes. The majority of literature on group prenatal care uses CenteringPregnancy, the most popular model. The first randomized controlled trial of CenteringPregnancy showed that it reduced the risk of preterm birth in low-risk women. However, recent meta-analyses have shown similar rates of preterm birth, low birthweight, and neonatal intensive care unit admission between women participating in group prenatal care and individual prenatal care. There may be subgroups, such as African Americans, who benefit from this type of prenatal care with significantly lower rates of preterm birth. Group prenatal care seems to result in increased patient satisfaction and knowledge and use of postpartum family planning as well as improved weight gain parameters. The literature is inconclusive regarding breast-feeding, stress, depression, and positive health behaviors, although it is theorized that group prenatal care positively affects these outcomes. It is unclear whether group prenatal care results in cost savings, although it may in large-volume practices if each group consists of approximately 8-10 women. Group prenatal care requires a significant paradigm shift. It can be difficult to implement and sustain. More randomized trials are needed to ascertain the true benefits of the model, best practices for implementation, and subgroups who may benefit most from this innovative way to provide prenatal care. In short, group prenatal care is an innovative and promising model with comparable pregnancy outcomes to individual prenatal care in the general population and improved outcomes in some

A mouse strain less responsive to dioxin-induced prostaglandin E2 synthesis is resistant to the onset of neonatal hydronephrosis.

Science.gov (United States)

Aida-Yasuoka, Keiko; Yoshioka, Wataru; Kawaguchi, Tatsuya; Ohsako, Seiichiroh; Tohyama, Chiharu

2014-10-01

Dioxin is a ubiquitous environmental pollutant that induces toxicity when bound to the aryl hydrocarbon receptor (AhR). Significant differences in susceptibility of mouse strains to dioxin toxicity are largely accounted for by the dissociation constant of binding to dioxins of AhR subtypes encoded by different alleles. We showed that cyclooxygenase-2 (COX-2) and microsomal prostaglandin E synthase-1 (mPGES-1), components of a prostanoid synthesis pathway, play essential roles in the onset of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) induced hydronephrosis of neonatal mice. Although C57BL/6J and BALB/cA mice harbor AhR receptors highly responsive to TCDD, they were found by chance to differ significantly in the incidence of TCDD-induced hydronephrosis. Therefore, the goal of the present study was to determine the molecular basis of this difference in susceptibility to TCDD toxicity. For this purpose, we administered C57BL/6J and BALB/cA dams' TCDD at an oral dose of 15 or 80 μg/kg on postnatal day (PND) 1 to expose pups to TCDD via lactation, and the pups' kidneys were collected on PND 7. The incidence of hydronephrosis in C57BL/6J pups (64%) was greater than in BALB/cA pups (0%, p hydronephrosis in these mouse strains paralleled the levels of renal mPGES-1 mRNA and early growth response 1 (Egr-1) that modulates mPGES-1 gene expression, as well as PGE2 concentrations in urine. Although these mouse strains possess AhR alleles tightly bound to TCDD, their difference in incidence and severity of hydronephrosis can be explained, in part, by differences in the expression of mPGES-1 and Egr-1. © The Author 2014. Published by Oxford University Press on behalf of the Society of Toxicology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Fetal lung volume in congenital diaphragmatic hernia: association of prenatal MR imaging findings with postnatal chronic lung disease.

Science.gov (United States)

Debus, Angelika; Hagelstein, Claudia; Kilian, A Kristina; Weiss, Christel; Schönberg, Stefan O; Schaible, Thomas; Neff, K Wolfgang; Büsing, Karen A

2013-03-01

To assess whether chronic lung disease (CLD) in surviving infants with congenital diaphragmatic hernia (CDH) is associated with lung hypoplasia on the basis of the results of antenatal observed-to-expected fetal lung volume (FLV) ratio measurement at magnetic resonance (MR) imaging. The study received approval from the institutional review board, with waiver of informed consent for this retrospective review from patients who had previously given informed consent for prospective studies. The ratio of observed to expected FLV at MR imaging was calculated in 172 fetuses with CDH. At postpartum day 28, the need for supplemental oxygen implicated the diagnosis of CLD. At day 56, patients with CLD were assigned to one of three groups-those with mild, moderate, or severe CLD-according to their demand for oxygen. Logistic regression analysis was used to assess the prognostic value of the individual observed-to-expected FLV ratio for association with postnatal development of CLD. Children with CLD were found to have significantly smaller observed-to-expected FLV ratios at MR imaging than infants without CLD (P CLD revealed significant differences in observed-to-expected FLV ratio between patients with mild CLD and those with moderate (P = .012) or severe (P = .007) CLD. For an observed-to-expected FLV ratio of 5%, 99% of patients with CDH developed CLD, compared with less than 5% of fetuses with an observed-to-expected FLV ratio of 50%. Perinatally, development and grade of CLD were further influenced by the need for extracorporeal membrane oxygenation (ECMO) (P CLD in surviving infants with CDH is associated with the prenatally determined observed-to-expected FLV ratio. Early neonatal therapeutic decisions can additionally be based on this ratio. Perinatally, ECMO requirement and gestational age at delivery are useful in further improving the estimated probability of CLD.