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Fetal malformations

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https://www.readbyqxmd.com/read/27925677/prenatal-anogenital-distance-is-shorter-in-fetuses-with-hypospadias
#1
Yinon Gilboa, Sharon Perlman, Zvi Kivilevitch, Baruch Messing, Reuven Achiron
OBJECTIVES: Recent research provides evidence that anogenital distance may serve as a novel metric to assess reproductive potential in men. In children, a shorter anogenital distance was linked with cryptorchidism, hypospadias, and micropenis. Scarce data exist in the literature regarding anogenital distance measurement in the fetus. The aim of our study was to assess whether intrauterine measurement of fetal anogenital distance could assist in the differential diagnosis of male genital anomalies...
November 28, 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#2
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27912790/fetal-malformation-in-maternal-toxoplasma-and-rubella-co-infection-in-cameroon-a-case-report
#3
Andreas Ateke Njoh, Sarah Namondo Njoh, Messang Blandine Abizou
BACKGROUND: There has been a recent increase in the number of newborns with brain malformations due to congenital infections, but the impact of these diseases remains largely under ascertained in middle-income and low-income countries. This case report presents a fetal anencephaly following maternal toxoplasma and rubella co-infection in a resource-limited setting and the challenges faced by the patient and the health care provider in the management of the condition. CASE PRESENTATION: A 25-year-old black Cameroonian woman of Bakossi origin, gravida3 para1010, presented with a positive rubella and toxoplasma immunoglobulin G serologic test at 21 weeks of pregnancy; she could not benefit from a fetal morphologic ultrasound partly because there was none at the site of her antenatal clinic and because there were accessibility constraints getting to the nearest referral hospital approximately 100 km away...
December 3, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27908214/pregnancy-and-tumor-outcomes-in-infertile-women-with-macroprolactinoma-on-cabergoline-therapy
#4
Ashu Rastogi, Sanjay K Bhadada, Anil Bhansali
Hyperprolactinemia and prolactinomas cause infertility in significant number of women. But, pregnancy may lead to post-partum remission of hyperprolactinemia. The data on pregnancy and tumor outcome in women with macroprolactinoma conceiving on Cabergoline (CAB) therapy is increasing but still less than with Bromocriptine. We studied the incidence of fetal malformations, hyperprolactinemia and tumor course after gestation in infertile women harboring macroprolactinoma, who conceived on CAB therapy during the year 2005-2015...
December 2, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27902933/the-fda-approved-drug-sofosbuvir-inhibits-zika-virus-infection
#5
Kristen M Bullard-Feibelman, Jennifer Govero, Zhe Zhu, Vanessa Salazar, Milena Veselinovic, Michael S Diamond, Brian J Geiss
The rapidly expanding Zika virus (ZIKV) epidemic has affected thousands of individuals with severe cases causing Guillain-Barré syndrome, congenital malformations, and microcephaly. Currently, there is no available vaccine or therapy to prevent or treat ZIKV infection. We evaluated whether sofosbuvir, an FDA-approved nucleotide polymerase inhibitor for the distantly related hepatitis C virus, could have antiviral activity against ZIKV infection. Cell culture studies established that sofosbuvir efficiently inhibits replication and infection of several ZIKV strains in multiple human tumor cell lines and isolated human fetal-derived neuronal stem cells...
November 27, 2016: Antiviral Research
https://www.readbyqxmd.com/read/27894129/isolated-fetal-ascites-neonatal-outcome-in-51-cases-observed-in-a-tertiary-referral-center
#6
Vincenzo Davide Catania, Alessia Muru, Marcella Pellegrino, Erika Adalgisa De Marco, Filomena Valentina Paradiso, Carlo Manzoni, Lorenzo Nanni, Lucia Masini
Introduction Prenatal detection of isolated ascites is a rare finding on ultrasound, usually suggestive of an underlying pathology that may negatively impact on the pregnancy and neonatal outcome. The purpose of the present study was to evaluate the outcome of primary isolated ascites in relation to gestational age (GA) at diagnosis. Materials and Methods Data were prospectively collected for fetuses with ascites that have been followed in our center of prenatal diagnosis and therapy from 2004 to 2014. Patients have been divided in group I when ascites was detected before the 24th week of GA and group II if it was noticed later...
November 28, 2016: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27891327/analysis-of-fetal-palate-to-assist-pre-natal-ultrasound
#7
Anjali Shastry, Yogitha Ravindranath, Roopa Ravindranath
INTRODUCTION: Cleft palate is one of the major facial congenital malformation in newborns. Pre-natal detection of this malformation is limited to detection of clefting of hard palate but isolated soft palate clefting still remains challenge for sonologists. As Indian literature is limited present study was attempted to provide dimensions and position of fetal palate by digitized images. AIM: To study dimensions, position and differences in parameters between second and third trimester fetuses...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27886392/deregulated-expression-of-ezh2-in-congenital-brainstem-disconnection
#8
P G Barth, E Aronica, S Fox, K Fluiter, M A J Weterman, A Poretti, D C Miller, E Boltshauser, B Harding, M Santi, F Baas
Congenital brainstem disconnection (CBSD) is an enigmatic embryo-fetal defect presenting as (sub)total absence of a segment between mesencephalon and lower brainstem. Rostro-caudal limits of the defect vary while the basal pons is always involved and the cerebellum is globally hypoplastic. A recent update and review[1] lists 14 cases, including 3 brain autopsy studies[1-3]. Necrosis and glial- or inflammatory reactions were absent. Inferior olivary nuclei were small or absent, pontine nuclei depleted, and the cerebellar dentate nuclei dysplastic...
November 25, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27880967/early-prenatal-mri-of-cervical-abortive-myelocystocele-case-report-and-review-of-the-literature
#9
Giacomo Talenti, Carlo Giussani, Cecilia Parazzini, Giana Izzo, Francesco Canonico, Patrizia Vergani, Andrea Righini
Cervical abortive myelocistocele is a very rare congenital malformation. In this case report, we describe the prenatal magnetic resonance imaging (MRI) of such entity in a 20-week gestational age fetus, whose imaging features showed to be different from the only other previous prenatal report. We underscored the value of fetal MR for counseling and prognosis, especially when assessing the integrity of the spinal cord.
November 23, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27878897/minimal-immune-determinants-connect-zika-virus-human-cytomegalovirus-and-toxoplasma-gondii-to-microcephaly-related-human-proteins
#10
Guglielmo Lucchese, Darja Kanduc
Aiming at the molecular definition of the relationship(s) between prenatal infections and fetal microcephaly and using pentapeptides as minimal immune determinants, we analyzed the peptide matching between proteins from infectious agents involved in microcephalic syndromes (namely Zika virus, human Cytomegalovirus, and Toxoplasma gondii) and human proteins that, when altered, have been specifically associated with microcephaly. We report that an unexpected high number of epitopic pentapeptides (ie, 34) are common to the three fetopathogenic agents and repeatedly occur throughout an important number of microcephaly-related human proteins...
November 23, 2016: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/27878468/the-risk-of-adverse-pregnancy-outcome-after-first-trimester-exposure-to-h1-antihistamines-a-systematic-review-and-meta-analysis
#11
REVIEW
Fatma Etwel, Lauren H Faught, Michael J Rieder, Gideon Koren
INTRODUCTION: H1 antihistamines are used for the treatment of nausea and vomiting during pregnancy as well as the symptomatic relief of asthma, urticaria, allergy, and the common cold. Although they are overall felt to be safe during pregnancy, recently several studies have challenged this assumption, as millions of women are exposed to them in the first trimester. METHODS: Following the guidelines of PRISMA, a systematic review was performed to retrieve all published articles involving H1-antihistamine exposure during pregnancy...
November 22, 2016: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/27869383/-geographic-distribution-of-perinatal-mortality-due-to-congenital-malformations-in-colombia-1999-2008-an-analysis-of-vital-statistics-data
#12
Sandra Patricia Misnaza, Claudia Patricia Roncancio, Isabel Cristina Peña, Franklin Edwin Prieto
INTRODUCTION: During 2012, 13% of the deaths worldwide in children under the age of 28 days were due to congenital malformations. In Colombia, congenital malformations are the second leading cause of infant mortality. Objective: To determine the geographical distribution of extended perinatal mortality due to congenital malformations in Colombia between 1999 and 2008. Materials and methods: We conducted a cross-sectional study. We revised all death certificates issued between 1999 and 2008...
September 1, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27867946/advances-in-fetal-surgery
#13
REVIEW
Kathryn M Maselli, Andrea Badillo
Historically, the gold standard for the treatment of congenital malformations has been planned delivery at tertiary care center with attempted post-natal repair or amelioration of the lesion. Over the last few decades however, rapid advances in imaging and instrumentation technology combined with superior knowledge of fetal pathophysiology has led to the development of novel intrauterine interventions for most common fetal anomalies. Great success has already been seen the treatment of previous devastating anomalies such as myelomeningocele (MMC), congenital cystic malformations of the lung, twin-twin transfusion, and sacrococcygeal teratomas...
October 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/27859469/fraser-syndrome-features-suggestive-of-prenatal-diagnosis-in-a-review-of-38-cases
#14
Aude Tessier, Mélie Sarreau, Fanny Pelluard, Gwenaelle André, Sophie Blesson, Martine Bucourt, Pierre Dechelotte, Laurence Faivre, Thierry Frébourg, Alice Goldenberg, Valérie Goua, Corinne Jeanne-Pasquier, Fabien Guimiot, Annie Laquerriere, Nicole Laurent, Mathilde Lefebvre, Philippe Loget, Martine Maréchaud, Charlotte Mechler, Marie-Josée Perez, Jean Christophe Sabourin, Alain Verloes, Sophie Patrier, Anne-Marie Guerrot
OBJECTIVE: Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few antenatal presentations have been reported. METHOD: We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. RESULTS: Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia...
November 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27858152/effect-of-elevated-estradiol-levels-on-the-hcg-administration-day-on-ivf-pregnancy-and-birth-outcomes-in-the-long-gnrh-agonist-protocol-analysis-of-3393-cycles
#15
Meimei Wang, Cuifang Hao, Hongchu Bao, Xin Huang, Zhenteng Liu, Wei Zhang, Fenghua Li
INTRODUCTION: This retrospective study aimed to evaluate the association between elevated serum estradiol (E 2) levels on the human chorionic gonadotrophin (hCG) administration day and in vitro fertilization (IVF) pregnancy and birth outcomes in the long GnRH-agonist protocol. METHODS: This study analyzed the data of 3393 infertile women who underwent initial fresh IVF. The patients were categorized into high and low E 2 groups based on their serum E 2 levels on the hCG day...
November 17, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27848393/comparison-of-rat-and-rabbit-embryo-fetal-developmental-toxicity-data-for-379-pharmaceuticals-on-the-nature-and-severity-of-developmental-effects
#16
Peter T Theunissen, Sonja Beken, Bruce K Beyer, William J Breslin, Gregg D Cappon, Connie L Chen, Gary Chmielewski, Luc De Schaepdrijver, Brian Enright, Jennifer E Foreman, Wafa Harrouk, Kok-Wah Hew, Alan M Hoberman, Julia Y Hui, Thomas B Knudsen, Susan B Laffan, Susan L Makris, Matt Martin, Mary Ellen McNerney, Christine L Siezen, Dinesh J Stanislaus, Jane Stewart, Kary E Thompson, Belen Tornesi, Jan Willem Van der Laan, Gerhard F Weinbauer, Sandra Wood, Aldert H Piersma
Regulatory non-clinical safety testing of human pharmaceuticals typically requires embryo-fetal developmental toxicity (EFDT) testing in two species (one rodent and one non-rodent). The question has been raised whether under some conditions EFDT testing could be limited to one species, or whether the testing in a second species could be decided on a case-by-case basis. As part of a consortium initiative, we built and queried a database of 379 compounds with EFDT studies (in both rat and rabbit animal models) conducted for marketed and non-marketed pharmaceuticals for their potential for adverse developmental and maternal outcomes, including EFDT incidence and the nature and severity of adverse findings...
November 2016: Critical Reviews in Toxicology
https://www.readbyqxmd.com/read/27843868/lethal-multiple-pterygium-syndrome
#17
Tulika Joshi, Nazia Nagori Noor, Moolraj Kural, Amita Tripathi
The multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case of lethal multiple pterygium syndrome.
April 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/27836377/-prevention-of-spontaneous-preterm-birth-excluding-preterm-premature-rupture-of-membranes-guidelines-for-clinical-practice%C3%A2-%C3%A2-text-of-the-guidelines-short-text
#18
L Sentilhes, M-V Sénat, P-Y Ancel, E Azria, G Benoist, J Blanc, G Brabant, F Bretelle, S Brun, M Doret, C Ducroux-Schouwey, A Evrard, G Kayem, E Maisonneuve, L Marcellin, S Marret, N Mottet, S Paysant, D Riethmuller, P Rozenberg, T Schmitz, H Torchin, B Langer
OBJECTIVES: To determine the measures to prevent spontaneous preterm birth (excluding preterm premature rupture of membranes)and its consequences. MATERIALS AND METHODS: The PubMed database, the Cochrane Library and the recommendations from the French and foreign obstetrical societies or colleges have been consulted. RESULTS: In France, premature birth concerns 60,000 neonates every year (7.4 %), half of them are delivered after spontaneous onset of labor...
November 8, 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
https://www.readbyqxmd.com/read/27834764/vascular-ring-diagnosis-and-management-notable-trends-over-25-years
#19
William N Evans, Ruben J Acherman, Michael L Ciccolo, Sergio A Carrillo, Gary A Mayman, Carlos F Luna, Robert C Rollins, William J Castillo, Humberto Restrepo
BACKGROUND: Vascular rings (VRs) are recognized as uncommon but not rare cardiovascular malformations. METHODS: We analyzed data from all patients born in Southern Nevada, who underwent diagnosis and management of VR from 1990 to 2015, RESULTS: From 1990 to 2015, a total of 92 patients were diagnosed prenatally and postnatally. Of the 92 patients, 73 (79%) had right aortic arch and aberrant left subclavian artery (RAA-ALS) with a left ductus arteriosus or ligamentum, 17 (19%) had a double aortic arch (DAA), and 2 (2%) had a pulmonary artery sling...
November 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27832451/expression-data-analysis-for-the-identification-of-potential-biomarker-of-pregnancy-associated-breast-cancer
#20
Raja Rajeswary Thanmalagan, Leimarembi Devi Naorem, Amouda Venkatesan
Breast cancer affects every 1 of 3000 pregnant women or in the first post-partum year is referred as Pregnancy Associated Breast Cancer (PABC) in mid 30s. Even-though rare disease, classified under hormone receptor negative status which metastasis quickly to other parts by extra cellular matrix degradation. Hence it is important to find an optimal treatment option for a PABC patient. Also additional care should be taken to choose the drug; in order to avoid fetal malformation and post-partum stage side-effects...
November 10, 2016: Pathology Oncology Research: POR
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