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https://www.readbyqxmd.com/read/28737875/-intestinal-cystic-duplication-case-report
#1
Ana Herranz Barbero, Jordi Prat Ortells, M Elena Muñoz Fernández, Montserrat Castañón García-Alix, Josep Figueras Aloy
Intestinal cystic duplications are rare congenital anomalies, with an estimated incidence of approximately 1:4500 autopsies. The etiopathogenesis is uncertain. These duplications are cystic, tubular or diverticular structures lined with gastrointestinal mucosa. They share a common smooth muscle wall with the gastrointestinal tract but usually their lumens do not communicate with each other. Gastric duplication cysts represent 7-9% of the gastrointestinal tract duplication. They can be diagnosed prenatally by fetal ultrasound; magnetic resonance imaging characterizes the cyst and excludes other malformations...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28737125/taxanes-in-combination-with-platinum-derivatives-for-the-treatment-of-ovarian-cancer%C3%A2-during-pregnancy-a-literature-review%C3%A2
#2
Xiaoling Zheng, Yao Zhu, Yunchun Zhao, Shisen Feng, Caihong Zheng
Ovarian cancer is one of the most common types of solid carcinoma diagnosed during pregnancy. Taxane plus a platinum derivative is a combination therapy that is predominantly used in the treatment of ovarian cancer in non-pregnant women. Pregnancy adds various complexities to a course of treatment. In pregnant patients diagnosed with cancer during the first trimester, the risks of fetal malformations and fetal loss increase following the administration of cytotoxic drugs, and this is higher with multi-agent vs...
July 24, 2017: International Journal of Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28736088/fetopathological-examination-for-the-fetuses-with-down-syndrome-in-tunisia-epidemiological-study-and-associated-malformations
#3
Meriem Aloui, Kaouther Nasri, Nadia Ben Jemaa, Meriem Sahraoui, Aida Masmoudi, Dorra Zghal, Dalenda Chelli, Habiba Chaâbouni, Abdel Majid Ben Hamida, Soumeya Siala Gaigi, Raja Marrakchi
BACKGROUND: For Down syndrome (DS), traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. In Tunisia, the current work is the first in-depth study in epidemiology of DS from fetopathological data. AIM OF THE STUDY: The aim of this epidemiological study was to determine the impact of some feto-maternal characteristics in occurrence of DS and to search the frequency of associated congenital malformations with this syndrome...
May 8, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28733971/the-fetal-safety-of-enoxaparin-use-during-pregnancy-a-population-based-retrospective-cohort-study
#4
Meital Shlomo, Rafael Gorodischer, Sharon Daniel, Arnon Wiznitzer, Ilan Matok, Boris Fishman, Gideon Koren, Amalia Levy
INTRODUCTION: Enoxaparin is widely used during pregnancy as pregnancy is a hypercoagulable state; however, its fetal safety has scarcely been investigated. OBJECTIVE: Our study aimed to examine fetal safety following enoxaparin exposure during pregnancy. METHODS: A population-based, retrospective cohort study was performed by linking computerized databases, including the drug dispensing registries of Clalit Health Services in Israel and maternal and infant hospital records, between 1998 and 2009...
July 21, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#5
Maria Şorop-Florea, Raluca Niculina Ciurea, Mihai Ioana, Alex Emilian Stepan, George Alin Stoica, Florentina Tănase, Maria Cristina Comănescu, Marius Bogdan Novac, Ioana Drăgan, Ciprian LaurenŢiu Pătru, Roxana Cristina Drăguşin, George Lucian Zorilă, Ovidiu Marian Cărbunaru, NuŢi Daniela Oprescu, Iuliana Ceauşu, Simona Vlădăreanu, Ştefania Tudorache, Dominic Gabriel Iliescu
Perinatal autopsy remains the gold-standard procedure used to establish the fetal, neonatal or infant abnormalities. Progressively, perinatal pathology has become a specialized field with important roles of audit for fetal prenatal diagnostic tools, in parents counseling regarding future pregnancies, in scientific research, for epidemiology of congenital abnormalities and teaching. The differences between prenatal ultrasound and autopsy reports represent a strong argument for the autopsy examination following termination of pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28729012/evidence-that-children-born-at-early-term-37-38-6-7-weeks-are-at-increased-risk-for-diabetes-and-obesity-related-disorders
#6
Dorit Paz Levy, Eyal Sheiner, Tamar Wainstock, Ruslan Sergienko, Daniella Landau, Asnat Walfisch
BACKGROUND: Prematurity is known to be associated with high rates of endocrine and metabolic complications in the offspring. Early term (37 0/7-38 6/7 weeks' gestation) born offspring were also shown to exhibit long term morbidity resembling that of late preterm, in several health categories. OBJECTIVE: We aimed to determine whether early term delivery impacts on the long-term endocrine and metabolic health of the offspring. STUDY DESIGN: A population-based cohort analysis was performed, including all term singleton deliveries occurring during 1991-2013 at a single regional tertiary medical center...
July 17, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28727977/the-vanishing-twin-syndrome-two-cases-of-extreme-malformations-associated-with-vanished-twins
#7
Julia K Shinnick, Nasim Khoshnam, Sydney R Archer, Philip C Quigley, Haynes Robinson, Sarah Keene, Matthew T Santore, Sarah Hill, Binita Patel, Bahig M Shehata
Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the "vanished" fetal sac...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28722320/congenital-unilateral-renal-agenesis-prevalence-prenatal-diagnosis-associated-anomalies-data-from-two-birth-defect-registries
#8
Hélène Laurichesse Delmas, Monique Kohler, Bérénice Doray, Didier Lémery, Christine Francannet, Jocelyn Quistrebert, Cécile Marie, Isabelle Perthus
BACKGROUND: The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secondary objectives were to describe the evolution of sensitivity of prenatal diagnosis over time and the different forms of URA (isolated and associated with other malformations) detected up to 1 year...
July 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28720225/-ultrasound-screening-for-birth-defects-a-medico-economic-review
#9
C Ferrier, F Dhombres, L Guilbaud, I Durand-Zaleski, J-M Jouannic
OBJECTIVES: The systematic use of ultrasound during pregnancy aims at birth defect detection. Our objective was to assess the economic efficiency of prenatal ultrasound screening for fetal malformations. METHODS: We carried out a literature review on Medline via PubMed between 1985 and 2015, from the economic perspective of the prenatal ultrasound screening for fetal malformations. RESULTS: The literature on this subject was sparse and we selected only twelve articles presenting relevant economic data, of which only eight were proper medico-economic studies...
July 15, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/28715806/real-time-volume-contrast-imaging-in-the-a-plane-with-a-four-dimensional-electronic-probe-facilitates-the-evaluation-of-fetal-extremities-in-midtrimester-sonograms
#10
Federica Bellussi, Giuliana Simonazzi, Ginevra Salsi, Francesca Guasina, Gianluigi Pilu
OBJECTIVE: To evaluate the efficiency of real-time volume contrast imaging in the A plane (VCI-A) of fetal extremities, compared with conventional two-dimensional ultrasound (2D). METHODS: This was a randomized controlled trial of 100 patients undergoing midtrimester sonography. The fetal limbs were imaged with either 2D or VCI-A with a four-dimensional (4D) electronic probe. Time required for the examination, number of images stored, and quality of the documentation were compared...
July 18, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28714608/selective-serotonin-reuptake-inhibitors-during-pregnancy-do-we-have-now-more-definite-answers-related-to-prenatal-exposure
#11
REVIEW
Asher Ornoy, Gideon Koren
Despite extensive studies, there still seems to be uncertainty as to the possible reproductive risk of selective serotonin reuptake inhibitors (SSRIs) and selective serotonin norepinephrine reuptake inhibitors (SNRIs) in pregnancy. We, therefore, assess the current data on the risk/benefit of SSRI use in pregnancy. As the neurodevelopmental effects of SSRIs are discussed in another paper in this issue, we will not address the possible neurodevelopmental effects. Special emphasis is given to the newer, large population-based studies...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28710772/outcomes-of-conception-subsequent-to-methotrexate-treatment-for-an-unruptured-ectopic-pregnancy
#12
Ran Svirsky, Ido Ben-Ami, Matitiahu Berkovitch, Reuvit Halperin, Uri Rozovski
OBJECTIVE: To assess the risk of adverse pregnancy outcomes in subsequent pregnancies among women treated with methotrexate for ectopic pregnancy. METHODS: In a retrospective single-center study, data were assessed for women treated with methotrexate for ectopic pregnancy at Asaf Harofe Medical Center, Zerifin, Israel, between May 2004 and May 2014. RESULTS: Overall, 226 women were treated with methotrexate for ectopic pregnancy and subsequently conceived...
July 15, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28708997/vaccine-mediated-protection-against-zika-virus-induced-congenital-disease
#13
Justin M Richner, Brett W Jagger, Chao Shan, Camila R Fontes, Kimberly A Dowd, Bin Cao, Sunny Himansu, Elizabeth A Caine, Bruno T D Nunes, Daniele B A Medeiros, Antonio E Muruato, Bryant M Foreman, Huanle Luo, Tian Wang, Alan D Barrett, Scott C Weaver, Pedro F C Vasconcelos, Shannan L Rossi, Giuseppe Ciaramella, Indira U Mysorekar, Theodore C Pierson, Pei-Yong Shi, Michael S Diamond
The emergence of Zika virus (ZIKV) and its association with congenital malformations has prompted the rapid development of vaccines. Although efficacy with multiple viral vaccine platforms has been established in animals, no study has addressed protection during pregnancy. We tested in mice two vaccine platforms, a lipid nanoparticle-encapsulated modified mRNA vaccine encoding ZIKV prM and E genes and a live-attenuated ZIKV strain encoding an NS1 protein without glycosylation, for their ability to protect against transmission to the fetus...
July 13, 2017: Cell
https://www.readbyqxmd.com/read/28704916/three-dimensional-echocardiography-in-adult-congenital-heart-disease
#14
REVIEW
Hyun Suk Yang
Congenital heart disease (CHD) is now more common in adults than in children due to improvements in fetal echo, neonatal and pediatric care, and surgical techniques leading to dramatically increased survivability into adulthood. Adult patients with CHD, regardless of prior cardiac surgery, experience further cardiac problems or therapeutic challenges; therefore, a non-invasive, easily accessible echocardiographic examination is an essential follow-up tool. Among echocardiographic modalities, three-dimensional (3D) echocardiography provides better delineation of spatial relationships in complex cardiac geometries and more accurate volumetric information without geometric assumptions...
July 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28704852/pregnancy-and-tumor-outcomes-in-women-with-prolactinoma
#15
Bárbara Araujo, Sandra Belo, Davide Carvalho
Context Management of prolactinomas during pregnancy has always been a challenge. There is a concern about the risk of tumor growth, as well as the effects of the treatment on the developing fetus. Another issue that has been less studied is the outcome of women with prolactinoma after pregnancy and lactation. Objectives To evaluate remission of hyperprolactinaemia after pregnancy and lactation in women with prolactinoma. To describe the safety of dopamine agonists for the fetus and pregnancy outcomes. Methods A retrospective study of 32 pregnancies in women with prolactinoma was conducted in a single-centre...
July 13, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28704197/expectant-management-in-di-chorionic-pregnancies-complicated-by-discordant-anomalous-twin
#16
Paola Algeri, Francesca M Russo, Maddalena Incerti, Sabrina Cozzolino, Francesca Pelizzoni, Davido P Bernasconi, Luca Montanelli, Luca Locatelli, Patrizia Vergani
Fetal malformations are more frequent in twins than in singletons. The aim of our study was to define the influence of a malformed twin on di-chorionic pregnancy outcomes. We performed a retrospective cohort study of di-chorionic pregnancies delivered between 2000 and 2015. Exclusion criteria were: both twins affected by fetal malformations, double intra-uterine fetal death in pregnancies without fetal malformation, selective feticide and therapeutic pregnancy termination. We compared maternal and fetal outcomes of di-chorionic pregnancies not complicated by fetal malformations with pregnancies affected by a single malformed fetus with conservative management...
July 12, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28701601/an-antenatal-diagnosis-congenital-high-airway-obstruction
#17
S Miital, A Mittal, R Singal, S Singal, G Sekhon
Congenital high airway obstruction (CHAOS) is a rare lethal fetal malformation characterised by obstruction to the fetal upper airway, which can be partial or complete. Antenatal diagnosis of CHAOS is important due to recent management options. Diagnosis is made with secondary changes such as hyperechoic enlarged lungs resulting in mediastinal compression, ascites, hydrops, flattened or everted diaphragms and dilated distal airways. We reported a case of CHAOS, antenatally on ultrasonography (USG) at 20 weeks of gestation...
July 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28694214/visualization-of-migration-of-human-cortical-neurons-generated-from-induced-pluripotent-stem-cells
#18
Yohei Bamba, Yonehiro Kanemura, Hideyuki Okano, Mami Yamasaki
BACKGROUND: Neuronal migration is considered a key process in human brain development. However, direct observation of migrating human cortical neurons in the fetal brain is accompanied by ethical concerns and is a major obstacle in investigating human cortical neuronal migration. NEW METHOD: We established a novel system that enables direct visualization of migrating cortical neurons generated from human induced pluripotent stem cells (hiPSCs). RESULTS: We observed the migration of cortical neurons generated from hiPSCs derived from a control and from a patient with lissencephaly...
July 8, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28686858/a-pentanucleotide-atttc-repeat-insertion-in-the-non-coding-region-of-dab1-mapping-to-sca37-causes-spinocerebellar-ataxia
#19
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz, Angela Timóteo, Beatriz Quintáns, Guy A Rouleau, Patrizia Rizzu, Ángel Carracedo, José Bessa, Peter Heutink, Jorge Sequeiros, Maria J Sobrido, Paula Coutinho, Isabel Silveira
Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome remain difficult to reach by that technology. For autosomal-dominant spinocerebellar ataxias (SCAs), 28 genes have been identified, but only five SCAs originate from non-coding mutations. Over half of SCA-affected families, however, remain without a genetic diagnosis...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28686357/homozygous-null-variant-in-cradd-encoding-an-adaptor-protein-that-mediates-apoptosis-is-associated-with-lissencephaly
#20
Tamar Harel, Nuphar Hacohen, Avraham Shaag, Moshe Gomori, Amihood Singer, Orly Elpeleg, Vardiella Meiner
Lissencephaly is a severe malformation of cortical development, most often attributed to abnormalities in neuronal migration. It is associated with a severe prognosis including developmental delay, intellectual disability, and seizures. Lissencephaly can be reliably diagnosed during late gestation by neurosonography or fetal magnetic resonance imaging (MRI). We report two sibling male fetuses who were diagnosed with delayed cortical sulcation highly suggestive of lissencephaly during late pregnancy. After receiving genetic counseling, the parents elected to terminate the pregnancies based on the neuroradiological findings and the associated severe prognosis...
July 7, 2017: American Journal of Medical Genetics. Part A
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