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https://www.readbyqxmd.com/read/28544620/phenotyping-cardiac-and-structural-birth-defects-in-fetal-and-newborn-mice
#1
REVIEW
Xiaoqin Liu, Andrew J Kim, William Reynolds, Yijen Wu, Cecilia W Lo
Mouse models are invaluable for investigating the developmental etiology and molecular pathogenesis of structural birth defects. While this has been deployed for studying a wide spectrum of birth defects, mice are particularly valuable for modeling congenital heart disease, given they have the same four-chamber cardiac anatomy as in humans. We have developed the use of noninvasive fetal ultrasound together with micro-computed tomography (micro-CT) imaging for high throughput phenotyping of mice for congenital heart defects (CHD) and other developmental anomalies...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544538/cornelia-de-lange-syndrome-to-diagnose-or-not-to-diagnose-in-utero
#2
REVIEW
Laura Avagliano, Gaetano Pietro Bulfamante, Valentina Massa
Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28542585/highly-efficient-maternal-fetal-zika-virus-transmission-in-pregnant-rhesus-macaques
#3
Sydney M Nguyen, Kathleen M Antony, Dawn M Dudley, Sarah Kohn, Heather A Simmons, Bryce Wolfe, M Shahriar Salamat, Leandro B C Teixeira, Gregory J Wiepz, Troy H Thoong, Matthew T Aliota, Andrea M Weiler, Gabrielle L Barry, Kim L Weisgrau, Logan J Vosler, Mariel S Mohns, Meghan E Breitbach, Laurel M Stewart, Mustafa N Rasheed, Christina M Newman, Michael E Graham, Oliver E Wieben, Patrick A Turski, Kevin M Johnson, Jennifer Post, Jennifer M Hayes, Nancy Schultz-Darken, Michele L Schotzko, Josh A Eudailey, Sallie R Permar, Eva G Rakasz, Emma L Mohr, Saverio Capuano, Alice F Tarantal, Jorge E Osorio, Shelby L O'Connor, Thomas C Friedrich, David H O'Connor, Thaddeus G Golos
Infection with Zika virus (ZIKV) is associated with human congenital fetal anomalies. To model fetal outcomes in nonhuman primates, we administered Asian-lineage ZIKV subcutaneously to four pregnant rhesus macaques. While non-pregnant animals in a previous study contemporary with the current report clear viremia within 10-12 days, maternal viremia was prolonged in 3 of 4 pregnancies. Fetal head growth velocity in the last month of gestation determined by ultrasound assessment of head circumference was decreased in comparison with biparietal diameter and femur length within each fetus, both within normal range...
May 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28539259/congenital-anomalies-in-tunisia-frequency-and-risk-factors
#4
Meriem Aloui, Kaouther Nasri, Abdel Majid Ben Hamida, Raja Marrakchi, Soumeya Siala Gaïgi
BACKGROUND: Despite the high risk of recurrence of congenital malformations, there are no well-accepted preventive measures in developing countries like Tunisia. It is recommended that thorough epidemiological studies of congenital anomalies in this country are needed. The aim of this study is to assess the frequency and types of congenital anomalies in Tunisia and research some risk factors associated with occurrence of these anomalies. METHODS: In this retrospective study, all the fetuses who were autopsied during 21 years period from February 1991 to December 2011 (N=9678) at service of embryofetopathology in the Center of Maternity and Neonatology of Tunis (CMNT) were studied...
May 21, 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28536688/isolated-fetal-lymphatic-malformation-of-the-thigh-prenatal-diagnosis-and-follow-up
#5
Huseyin Durukan, İlay Gözükara, Murside Cevikoglu, Talat Umut Kutlu Dilek
Fetal lymphatic malformation can be found in different parts of the fetal body. It occurs most frequently in the nuchal and axillary region and less frequently in the abdomen or inguinal areas. Lymphatic malformation has been associated with fetal aneuploidy, hydrops fetalis, structural malformations, and intrauterine fetal death. A 31-year-old gravida 3, para 2 woman was admitted to our hospital at 22 weeks of gestation (confirmed by ultrasonographic examination). The fetus was alive, and had a mass derived from the left inguinal region extending to the anterior left leg with fluid-filled cavities about 3-5 cm in size...
January 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28534929/teratogens-a-public-health-issue-a-brazilian-overview
#6
Thiago Mazzu-Nascimento, Débora Gusmão Melo, Giorgio Gianini Morbioli, Emanuel Carrilho, Fernanda Sales Luiz Vianna, André Anjos da Silva, Lavinia Schuler-Faccini
Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of 2,175), and the average cost of hospitalizations (annual cost of $7,758)...
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28532280/trends-and-characteristics-of-fetal-and-neonatal-mortality-due-to-congenital-anomalies-colombia-1999-2008
#7
Claudia Patricia Roncancio, Sandra Patricia Misnaza, Isabel Cristina Peña, Franklyn Edwin Prieto, Michael J Cannon, Diana Valencia
OBJECTIVE: To describe fetal and neonatal mortality due to congenital anomalies in Colombia. METHODS: We analyzed all fetal and neonatal deaths due to a congenital anomaly registered with the Colombian vital statistics system during 1999-2008. RESULTS: The registry included 213,293 fetal deaths and 7,216,727 live births. Of the live births, 77,738 (1.08%) resulted in neonatal deaths. Congenital anomalies were responsible for 7321 fetal deaths (3...
May 22, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28531808/prenatal-diagnosis-of-biliary-atresia-a-case-series
#8
O Shen, H Y Sela, H Nagar, R Rabinowitz, E Jacobovich, D Chen, E Granot
BACKGROUND: Biliary atresia is a progressive disease presenting with jaundice, and is the most common indication for liver transplantation in the pediatric population. Prenatal series have yielded conflicting results concerning a possible association between BA and prenatal nonvisualization of the gallbladder. AIMS: This retrospective case series was performed to assess the association between biliary atresia, prenatal nonvisualization of the gallbladder and other sonographic signs...
May 19, 2017: Early Human Development
https://www.readbyqxmd.com/read/28526449/predictors-of-vaginal-delivery-in-medically-indicated-early-preterm-induction-of-labor
#9
Rachel A Sievert, Spencer G Kuper, Victoria C Jauk, Melissa Parrish, Joseph R Biggio, Lorie M Harper
BACKGROUND: When delivery is indicated prior to 34 weeks, many providers perform a cesarean delivery (CD) rather than induce labor based on perceptions of a high failure rate. Given the morbidity of CD, an accurate estimate of the success rate and factors associated with success in preterm induction of labor (IOL) is important in management decisions. OBJECTIVE: We sought to develop a prediction model for successful induction of labor in preterm patients using factors known at the time the decision is made to deliver...
May 16, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28523762/a-retrospective-study-of-cytogenetic-results-from-amniotic-fluid-in-5328-fetuses-with-abnormal-obstetric-sonographic-findings
#10
Shuo Zhang, Caixia Lei, Junping Wu, Haiyan Sun, Yuezhou Yang, Yueping Zhang, Xiaoxi Sun
OBJECTIVES: The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes. METHODS: We conducted a retrospective study of 5328 fetuses with abnormal sonographic findings in the first or second trimester enrolled from October 1998 and September 2015. Cytogenetic results from amniotic fluid were obtained in all of these pregnancies...
May 19, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28521326/the-yield-of-abdominal-ultrasound-in-the-evaluation-of-elevated-liver-enzymes-during-the-second-and-the-third-trimester-of-pregnancy
#11
Aya Mohr-Sasson, Eyal Schiff, Ramy Rahamim Suday, Zehava Hayman, Yeruham Kleinbaum, Anat Kalter-Farber, Roy Mashiach, Yoav Yinon, Moti Dulitzki, Eyal Sivan, Shali Mazaki-Tovi
AIMS: To determine the clinical yield of abdominal ultrasound in the evaluation of elevated liver enzymes (ELEs) in the second and the third trimester of pregnancy. METHODS: A retrospective cohort study including all pregnant women admitted to a single tertiary care center was conducted between April 2011 and January 2015 with ELE. Inclusion criteria included gestational age above 24 weeks and ELEs, abdominal ultrasound report, and live fetus. Exclusion criteria included known maternal liver disease, structural or chromosomal fetal anomalies, and positive serology for viral hepatitis...
May 19, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/28520518/arrested-development-infantile-hemangioma-and-the-stem-cell-teratogenic-hypothesis
#12
Shaghayegh Harbi, Hannah Park, Michael Gregory, Peter Lopez, Luis Chiriboga, Paolo Mignatti
BACKGROUND: Early-life programming is defined by the adaptive changes made by the fetus in response to an adverse in utero environment. Infantile hemangioma (IH), a vascular anomaly, is the most common tumor of infancy. Here we take IH as the tumor model to propose the stem cell teratogenic hypothesis of tumorigenesis and the potential involvement of the immune system. OBJECTIVES: Teratogenic agents include chemicals, heavy metals, pathogens, and ionizing radiation...
May 18, 2017: Lymphatic Research and Biology
https://www.readbyqxmd.com/read/28516216/the-role-of-intrauterine-magnetic-resonance-in-the-management-of-myelomenigocele
#13
Denise Trigubo, Mercedes Negri, Rosana Mabel Salvatico, Gustavo Leguizamón
OBJECTIVE: To assess the role of magnetic resonance imaging (MRI) in the management of myelomenigocele. BACKGROUND: Spinal dysraphism or neural tube defects (NTD) encompass a heterogeneous group of congenital spinal anomalies that result from the defective closure of the neural tube early in gestation. Myelomeningocele is the most common type of NTD that is compatible with life, with high survival rates but lifelong physical impairments. CONCLUSION: MRI is an important adjunct to ultrasound in assessing NTD, as it pertains to pre-surgical planning and perinatal management...
May 17, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28514021/an-update-systematic-review-of-fetal-death-congenital-anomalies-and-fertility-disorders-among-health-care-workers
#14
REVIEW
Charline Warembourg, Sylvaine Cordier, Ronan Garlantézec
BACKGROUND: Health care workers (HCWs) are occupationally exposed to various hazards, some associated with adverse pregnancy outcomes in previous reviews. This systematic review aims at synthesizing the recent literature on occupational exposures among HCWs related to fetal death, congenital anomalies, and fertility disorders. METHODS: We searched the Medline database from 2000 to 2015 for articles about all potential occupational exposures of women and men working in this sector...
June 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/28510072/fetal-ventriculomegaly-diagnosis-treatment-and-future-directions
#15
Jared M Pisapia, Saurabh Sinha, Deborah M Zarnow, Mark P Johnson, Gregory G Heuer
Fetal ventriculomegaly (VM) refers to the enlargement of the cerebral ventricles in utero. It is associated with the postnatal diagnosis of hydrocephalus. VM is clinically diagnosed on ultrasound and is defined as an atrial diameter greater than 10 mm. Because of the anatomic detailed seen with advanced imaging, VM is often further characterized by fetal magnetic resonance imaging (MRI). Fetal VM is a heterogeneous condition with various etiologies and a wide range of neurodevelopmental outcomes. These outcomes are heavily dependent on the presence or absence of associated anomalies and the direct cause of the ventriculomegaly rather than on the absolute degree of VM...
May 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28509324/three-dimensional-neurosonography-a-novel-field-in-fetal-medicine
#16
Michał Lipa, Ritsuko Kimata Pooh, Mirosław Wielgoś
Neurosonography is a promising technique for prenatal diagnosis, combining features of ultrasound imaging with fetal neurology. The brain is a three-dimensional structure, therefore observing brain structure in the three basic planes (sagittal, coronal and axial) is mandatory. The anterior fontanelle and sagittal suture may serve as acoustic ultrasound windows in the transvaginal brain scan, allowing to obtain high-resolution neuroimages of the intracranial structures. Furthermore, three-dimensional (3D) ultrasound combined with the transvaginal brain approach provides detailed and sophisticated neuroimages...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28509319/investigation-of-cesarean-sections-at-konya-training-and-research-hospital-obstetrics-and-gynecology-department-between-2010-and-2015
#17
Zeynep Ozturk Inal, Hasan Ali Inal, Hasan Kucukkendirci, Ayla Sargin Oruc
OBJECTIVE: Analysis of the annual distribution of cesarean sections and indications between 2010 and 2015 in our clinic. MATERIAL AND METHODS: Medical records of 10,437 cesarean section patients from a total number of 24,283 deliveries performed at Department of Obstetrics and Gynecology between 2010-2015 were evaluated retrospectively. The indications for Cesarean section were analyzed and compared based on years. RESULTS: The lowest cesarean section rate was 18...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28502747/chicken-egg-fetal-liver-dna-and-histopathologic-effects-of-structurally-diverse-carcinogens-and-non-carcinogens
#18
M J Iatropoulos, T Kobets, J-D Duan, K D Brunnemann, E Vock, U Deschl, G M Williams
Chicken egg fetal livers were evaluated for histopathological changes produced by four genotoxic hepatocarcinogens: 2-acetylaminofluorene (AAF), aflatoxin B1 (AFB1), benzo[a]pyrene (BaP), diethylnitrosamine (DEN); four structurally related non- or weakly- carcinogenic comparators: fluorene (FLU), aflatoxin B2 (AFB2), benzo[e]pyrene (BeP), N-nitrosodiethanolamine (NDELA); two epigenetic hepatocarcinogens: clofibric acid (CFA), phenobarbital (PB); and the non-carcinogen, D-mannitol (MAN). CFA, PB and MAN were also assessed for formation of DNA adducts using the (32)P nucleotide postlabeling (NPL) assay and for DNA breaks using the comet assay...
May 11, 2017: Experimental and Toxicologic Pathology: Official Journal of the Gesellschaft Für Toxikologische Pathologie
https://www.readbyqxmd.com/read/28497000/what-is-the-teratogenic-risk-of-mycophenolate
#19
Ranjit I Kylat
Mycophenolate is often used in the management of systemic lupus erythematosus. It has often been associated with significant fetal embryopathy, including fetal loss and multiple anomalies. The Food and Drug Administration has directed that women should be counseled regarding this prior to initiating treatment with this drug. Isolated total anomalous pulmonary venous return (TAPVR) is a rare association seen with its use in pregnancy.
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28495245/massive-parallel-sequencing-identifies-rapsn-and-pdha1-mutations-causing-fetal-akinesia-deformation-sequence
#20
Lore Winters, Evelien Van Hoof, Luc De Catte, Kris Van Den Bogaert, Thomy de Ravel, Liesbeth De Waele, Anniek Corveleyn, Jeroen Breckpot
INTRODUCTION: Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC/FADS in a diagnostic setting. METHODS: An in-house developed disease-associated gene panel was conducted in two unrelated fetuses with FADS...
April 26, 2017: European Journal of Paediatric Neurology: EJPN
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