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esophageal atresia in pregnancy

Musaed Mohammed Alsebayel, Faisal Abdulrahman Abaalkhail, Faisal Mohammed Alsebayel, Dema A Alissa, Ahmed Hamdan Al-Jedai, Hussien Elsiesy
BACKGROUND Mycophenolate mofetil (MMF) is one of the most commonly prescribed drugs to prevent organ transplant rejection in combination with calcineurin inhibitors and steroids. It has a different toxicity profile than tacrolimus and cyclosporine.  Gastrointestinal tract disturbances are the most common adverse effects. The use of MMF in pregnant women, however, holds great risk of miscarriage and fetal development defects such as external ear malformation, ocular anomalies, cleft lip and palate, and abnormality of distal limbs, heart, esophagus, and kidneys...
May 3, 2018: American Journal of Case Reports
Julia Ekselius, Martin Salö, Einar Arnbjörnsson, Pernilla Stenström
Background: Besides the incidence of esophageal atresia (EA) being higher in males, no other gender-specific differences in EA have been reported. The aim of this study was to search for gender-specific differences in EA. Methods: A retrospective study was conducted at a tertiary center for pediatric surgery. The medical charts of infants born with EA were reviewed. 20 girls were identified, and 20 boys were selected as matched controls with respect to concomitant malformations...
2017: Surgery Research and Practice
Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations...
August 2017: American Journal of Medical Genetics. Part A
A Weller, S Daniel, G Koren, E Lunenfeld, A Levy
OBJECTIVE: To evaluate whether exposure to clomiphene citrate (CC) for ovulation induction is associated with major malformations overall or with specific fetal anomalies. DESIGN: We conducted a population-based retrospective cohort study. Exposure was defined as CC dispension from 2 months before conception through the first month of pregnancy. SETTINGS: Four databases were combined: medication, birth, hospitalization, and terminations of pregnancy...
March 23, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
Mohamad K Abou Chaar, Mariana L Meyers, Bethany D Tucker, Henry L Galan, Kenneth W Liechty, Timothy M Crombleholme, Ahmed I Marwan
BACKGROUND: The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy...
March 18, 2017: Journal of Medical Case Reports
S Tercanli, F Prüfer
Both in routine diagnostics and detailed, highly specialized workups, major advances have been observed in many areas of ultrasound due to an increase in expertise and improved technology in recent years. This is particularly true in the case of fetal neurosonography 1 2 3 4. Malformations of the CNS together with fetal heart defects are among the most common congenital anomalies. From the embryonic phase to the late third trimester, the CNS undergoes extensive development and maturation processes. The diagnosis of CNS anomalies is therefore primarily dependent on the time at which the examination is performed and the experience of the examiner...
December 2016: Ultraschall in der Medizin
Elizabeth C Ailes, Suzanne M Gilboa, Simerpal K Gill, Cheryl S Broussard, Krista S Crider, Robert J Berry, Tonia C Carter, Charlotte A Hobbs, Julia D Interrante, Jennita Reefhuis
BACKGROUND: Previous studies noted associations between birth defects and some antibiotics (e.g., nitrofurantoin, sulfonamides) but not others (e.g., penicillins). It is unclear if previous findings were due to antibiotic use, infections, or chance. To control for potential confounding by indication, we examined associations between antibiotic use and birth defects, among women reporting urinary tract infections (UTIs). METHODS: The National Birth Defects Prevention Study is a multi-site, population-based case-control study...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Hidekazu Nishigori, Taku Obara, Toshie Nishigori, Satoshi Mizuno, Hirohito Metoki, Tetsuro Hoshiai, Zen Watanabe, Kasumi Sakurai, Mami Ishikuro, Nozomi Tatsuta, Ichiko Nishijima, Ikuma Fujiwara, Shinichi Kuriyama, Takahiro Arima, Kunihiko Nakai, Nobuo Yaegashi
We analyzed data from the Japan Environment and Children's Study (JECS), on the association between selective serotonin reuptake inhibitors (SSRI) use during pregnancy and the risk of developing of major congenital anomalies in Japan. JECS is an ongoing nationwide birth cohort study. The study includes 95 994 single pregnant women and their offspring. Among them, 172 used any SSRI up to the 12th gestational week. Crude analyses show a significantly increased incidence of upper limb, abdominal, and urogenital abnormalities...
May 2017: Congenital Anomalies
Shilpa Sharma, Ranjana Bhanot, Dipika Deka, Minu Bajpai, Devendra K Gupta
AIM: To analyze the impact of counseling on antenatal congenital surgical anomalies (ACSA). METHODS: Cases presenting with ACSA for fetal counseling and those presenting in post-natal period following diagnosis of ACSA (PACSA) for surgical opinion were analyzed for spectrum, presentation and outcome. RESULTS: 117 cases including ACSA(68);PACSA(49) were analyzed. Gestational age at diagnosis of ACSA;PACSA was 17-37;17-39 weeks (median 24;32 weeks)...
February 2017: Pediatric Surgery International
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 4-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...
November 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 2016: 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
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