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esophageal atresia in pregnancy

Yu Feng, Runsen Chen, Xiaonan Li, Xuming Mo
BACKGROUND: Esophageal atresia (EA) is a common birth defect that occurs with tracheoesophageal fistula (TEF), although etiological studies on EA/TEF have produced inconsistent results. METHODS: The aim of this study was to examine the association between environmental factors during pregnancy and the risk of EA/TEF in a Chinese population. Cases of isolated EA and nonisolated EA and unaffected controls were identified between July 2005 and November 2015, and face-to-face questionnaires concerning exposure to environmental factors were administered to the birth mothers of 130 cases and 400 controls...
October 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Andrés Felipe Ramirez-Botero, Harry Pachajoa
Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a four year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling...
May 20, 2016: Congenital Anomalies
Kristen M Rappazzo, Joshua L Warren, Robert E Meyer, Amy H Herring, Alison P Sanders, Naomi C Brownstein, Thomas J Luben
BACKGROUND: Birth defects are responsible for a large proportion of disability and infant mortality. Exposure to a variety of pesticides have been linked to increased risk of birth defects. METHODS: We conducted a case-control study to estimate the associations between a residence-based metric of agricultural pesticide exposure and birth defects. We linked singleton live birth records for 2003 to 2005 from the North Carolina (NC) State Center for Health Statistics to data from the NC Birth Defects Monitoring Program...
April 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Rony Sfeir, Laurent Michaud, Duyti Sharma, Florence Richard, Frédéric Gottrand
National Esophageal Atresia was created in 2008 by the National Reference Center for Esophageal Congenital Abnormalities created in 2006. Primary goal was estimation of live birth prevalence in France. A national network of surgeons and pediatricians was initiated and entire teams dealing with esophageal atresia accepted to participate in an exhaustive national register. A questionnaire was validated by a national committee and data were centralized in our center. Scientific exploitation showed that such database is useful for health authorities as for medical professionals...
December 2015: European Journal of Pediatric Surgery
N Zwink, V Choinitzki, F Baudisch, A Hölscher, T M Boemers, S Turial, R Kurz, A Heydweiller, K Keppler, A Müller, S Bagci, M Pauly, U Brokmeier, A Leutner, P Degenhardt, E Schmiedeke, S Märzheuser, S Grasshoff-Derr, S Holland-Cunz, M Palta, M Schäfer, B M Ure, M Lacher, M M Nöthen, J Schumacher, E Jenetzky, H Reutter
Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and anorectal malformations (ARM) represent the severe ends of the fore- and hindgut malformation spectra. Previous research suggests that environmental factors are implicated in their etiology. These risk factors might indicate the influence of specific etiological mechanisms on distinct developmental processes (e.g. fore- vs. hindgut malformation). The present study compared environmental factors in patients with isolated EA/TEF, isolated ARM, and the combined phenotype during the periconceptional period and the first trimester of pregnancy in order to investigate the hypothesis that fore- and hindgut malformations involve differing environmental factors...
November 6, 2015: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
Anna Springett, Diana Wellesley, Ruth Greenlees, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman, Clara Cavero-Carbonell, Melinda Csaky-Szunyogh, Elizabeth S Draper, Ester Garne, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Catherine Lynch, Carlos Matias Dias, Robert McDonnell, Vera Nelen, Mary O'Mahony, Anna Pierini, Annette Queisser-Luft, Judith Rankin, Anke Rissmann, Catherine Rounding, Sylvia Stoianova, David Tuckerz, Natalya Zymak-Zakutnia, Joan K Morris
The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births...
December 2015: American Journal of Medical Genetics. Part A
Barbara Iwańczak, Agnieszka Kosmowska-Miśków, Tatiana Jamer, Dariusz Patkowski
A case of a 4.5-year-old girl from a twin pregnancy, who was diagnosed after birth with the congenital esophageal atresia (type 3), and at the age of 4 with the potential coeliac disease. Congenital esophageal atresia was successfully treated surgically in infancy with the thoracoscopic method. The potential coeliac disease was detected in the child with a correct histopathological examination of intestinal villi and showing no enteropathy symptoms based on the presence of antibodies against tissue transglutaminase and against endomysial antibodies of smooth muscles in serum and the presence of HLA DQ2...
August 2015: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Monica Kumar, Laura Ray, Sudha Vemuri, Teresa A Simon
OBJECTIVE: To characterize pregnancy outcomes following maternal and paternal exposure to abatacept, using clinical trial and post-marketing data available to the manufacturer. METHODS: All confirmed cases of pregnancy with outcome data reported to the manufacturer up to September 1, 2014 were included. Sources included clinical trials, spontaneously reported (unsolicited) post-marketing cases, and the Organization of Teratology Information Specialists registry...
December 2015: Seminars in Arthritis and Rheumatism
A Šípek, V Gregor, J Horáček, A Šípek, J Klaschka, M Malý
OBJECTIVE: Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994-2009. DESIGN: Retrospective epidemiological analysis of the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. MATERIAL AND METHODS: Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used...
March 2015: Epidemiologie, Mikrobiologie, Imunologie
Nirmala Gurung, Greta Grosse, Markus Draaken, Alina C Hilger, Nuzhat Nauman, Andreas Müller, Ulrich Gembruch, Waltraut M Merz, Heiko Reutter, Michael Ludwig
Danforth's short tail (Sd) mutant mice exhibit defects of the neural tube and other abnormalities, which are similar to the human vertebral anomalies, anal atresia, cardiac defects, tracheosophageal fistula and/or esophageal atresia, renal and radial abnormalities, and limb defects (VATER/VACTERL) association, including defects of the hindgut. Sd has been shown to underlie ectopic gene expression of murine Ptf1a, which encodes pancreas-specific transcription factor 1A, due to the insertion of a retrotansposon in its 5' regulatory domain...
July 2015: Molecular Medicine Reports
V Hochart, P Verpillat, C Langlois, C Garabedian, J Bigot, V Houfflin Debarge, R Sfeir, F E Avni
OBJECTIVE: Present challenges are to improve the diagnosis rate of oesophageal atresia (OA) and evaluate as completely as possible a fetus affected by OA, specifically the type of OA and the length of the gap. Our aim was to evaluate the accuracy of fetal MR imaging (fMRI) for diagnosis of OA. METHODS: We reviewed fMRI performed because of sonographic suspicion of an OA. The signs reviewed included stomach size, "pouch sign", bowing of the trachea and visualization of the lower oesophageal lumen...
February 2015: European Radiology
Charles Garabedian, Rony Sfeir, Carole Langlois, Arnaud Bonnard, Naziha Khen-Dunlop, Thomas Gelas, Laurent Michaud, Fréderic Auber, Fréderic Gottrand, Véronique Houfflin-Debarge
OBJECTIVE: Our study aimed at (1) evaluating neonatal treatment and outcome of neonates with either a prenatal or a postnatal diagnosis of esophageal atresia (EA) and (2) analyzing the impact of prenatal diagnosis on outcome based on the type of EA. STUDY DESIGN: We conducted a population-based study using data from the French National Register for infants with EA born from 2008-2010. We compared prenatal, maternal, and neonatal characteristics among children with prenatal vs postnatal diagnosis and EA types I and III...
March 2015: American Journal of Obstetrics and Gynecology
Angela E Lin, Sergey Krikov, Tiffany Riehle-Colarusso, Jaime L Frías, John Belmont, Marlene Anderka, Tal Geva, Kelly D Getz, Lorenzo D Botto
Little is known epidemiologically about laterality defects. Using data from the National Birth Defects Prevention Study (NBDPS), a large multi-site case-control study of birth defects, we analyzed prevalence and selected characteristics in children born with laterality defects born from 1998 to 2007. We identified 517 nonsyndromic cases (378 heterotaxy, 73.1%; 139 situs inversus totalis [SIT], 26.9%) resulting in an estimated birth prevalence of 1.1 per 10,000 live births (95% confidence interval 1.0–1.2)...
October 2014: American Journal of Medical Genetics. Part A
Shaun M Kunisaki, Steven W Bruch, Ronald B Hirschl, George B Mychaliska, Marjorie C Treadwell, Arnold G Coran
The current diagnostic accuracy and perinatal outcome of fetuses with esophageal atresia (EA) continues to be debated. In this review, we report on our experience at a tertiary care fetal center with the prenatal ultrasound diagnosis of EA. Enrollment criteria included a small/absent stomach bubble with a normal or elevated amniotic fluid index between 2005 and 2013. Perinatal outcomes were analyzed and compared to postnatally diagnosed EA cases. Of the 22 fetuses evaluated, polyhydramnios occurred in 73%. Three (14%) died in utero or shortly after birth, but none had EA...
October 2014: Pediatric Surgery International
Ana Catarina Fragoso, Leopoldo Martinez, José Estevão-Costa, Juan A Tovar
BACKGROUND: Abnormal lung development was recently described in the rat model of esophageal atresia and tracheoesophageal fistula (EA-TEF). Since in this condition the ventral-to-dorsal switch of Shh expression in the foregut is disturbed, the present study tested the hypothesis that this abnormal expression at the emergence of the tracheobronchial bud might be translated into the developing lung. METHODS: Pregnant rats received either 1.75 mg/kg i.p. adriamycin or vehicle from E7 to E9...
October 2014: Pediatric Research
Gyula Csermely, Éva Susánszky, Andrew E Czeizel, Béla Veszprémi
OBJECTIVE: In epidemiological studies at the estimation of risk factors in the origin of specified congenital abnormalities in general birth order (parity) is considered as confounder. The aim of this study was to analyze the possible association of first and high (four or more) birth order with the risk of congenital abnormalities in a population-based case-matched control data set. STUDY DESIGN: The large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities included 21,494 cases with different isolated congenital abnormality and their 34,311 matched controls...
August 2014: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Cecilia G Ethun, Sara C Fallon, Christopher I Cassady, Amy R Mehollin-Ray, Oluyinka O Olutoye, Irving J Zamora, Timothy C Lee, Stephen E Welty, Darrell L Cass
PURPOSE: The purpose of this study was to describe prenatal imaging characteristics and outcomes of fetuses with suspected esophageal atresia (EA) in order to improve prenatal diagnosis, counseling, and management. METHODS: The medical records of all patients referred to our multidisciplinary fetal center for suspected EA from January 2003 to April 2013 were reviewed retrospectively. RESULTS: Thirty-three patients were referred with a prenatal diagnosis of possible EA...
May 2014: Journal of Pediatric Surgery
Sara C Fallon, Cecilia G Ethun, Oluyinka O Olutoye, Mary L Brandt, Timothy C Lee, Stephen E Welty, Rodrigo Ruano, Darrell L Cass
BACKGROUND: Previous studies of infants with esophageal atresia (EA) suggest those diagnosed prenatally have worse outcomes because of a higher incidence of associated anomalies. The purpose of this study was to compare characteristics and outcomes of infants with EA diagnosed after fetal center evaluation to those diagnosed postnatally. METHODS: The records of all neonates treated for EA at our institution from 2002-2012 were reviewed. Infants with a prenatal diagnosis of EA were compared with those postnatally diagnosed using chi-square and Student t-test as appropriate...
July 2014: Journal of Surgical Research
C Garabedian, P Verpillat, I Czerkiewicz, C Langlois, F Muller, F Avni, J Bigot, R Sfeir, P Vaast, C Coulon, D Subtil, V Houfflin-Debarge
OBJECTIVE: Prenatal diagnosis of esophageal atresia (EA) remains a challenge. Our objective was to evaluate the combination of sonography, magnetic resonance imaging (MRI), and amniotic fluid biochemical markers in prenatal diagnosis of EA. STUDY DESIGN: A retrospective study of all cases with prenatal suspicion of EA from January 2008 to May 2013 in our regional reference center was carried out. Patients were included if all the three tests were performed. For each test, sensitivity (Se), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) were evaluated...
September 2014: Prenatal Diagnosis
Carolina M Valdez, Stephan P L Altmayer, McArthur A Barrow, Jorge A B Telles, Rosilene da S Betat, Paulo R G Zen, Rafael F M Rosa
The association between encephalocele and radial defects is considered uncommon. These features have been occasionally described separately in certain recurrent conditions such as VACTERL association, oculo-auriculo-vertebral spectrum and Edwards syndrome (trisomy 18). DK-phocomelia is a rare syndrome characterized by both findings. However, Froster-Iskenius and Meinecke [1992, Clin Dysmorphol 1: 37-41] and Kunze et al. [1992, Eur J Pediatr 151: 467-468] reported patients presenting similar malformations. We proposed, through the description of an additional case, that these last patients present the same condition and thus represent a new syndrome...
May 2014: American Journal of Medical Genetics. Part A
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