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fetal malformation

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https://www.readbyqxmd.com/read/28809041/complex-malformations-involving-the-fetal-body-wall-definition-and-classification-issues
#1
Julia Bijok, Diana Massalska, Anna Kucińska-Chahwan, Anna Posiewka, Alicja Ilnicka, Grzegorz Jakiel, Tomasz Roszkowski
OBJECTIVE: To analyse the sonographic features, cytogenetic results and pregnancy outcomes in complex malformations involving the body wall in a large cohort of fetuses with regard to different definitions proposed in the literature. METHOD: A retrospective study on 96 fetuses with complex malformations comprising ventral wall, craniofacial structures, limbs and umbilical cord that were evaluated between 1997 and 2015. RESULTS: The most common sonographic finding was an extensive ventral wall defect (95...
August 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28801981/pregnancy-outcomes-in-mothers-of-offspring-with-inherited-bone-marrow-failure-syndromes
#2
Neelam Giri, Helen D Reed, Pamela Stratton, Sharon A Savage, Blanche P Alter
BACKGROUND: Children with inherited bone marrow failure syndromes (IBMFSs) may be symptomatic in utero, resulting in maternal and fetal problems during the pregnancy. Subsequent pregnancies by their mothers should be considered "high risk". METHODS: We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery...
August 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28799037/three-dimensional-hdlive-imaging-of-an-umbilical-cord-cyst
#3
Eisuke Inubashiri, Naomi Nishiyama, Sayuri Tatedo, Hiina Minami, Atushi Saitou, Yukio Watanabe, Masaki Sugawara
Umbilical cord cysts (UCC) are a rare congenital malformation. Previous reports have suggested that the second- and third-trimester UCC may be associated with other structural anomalies or chromosomal abnormalities. Therefore, high-quality imaging is clinically important for the antenatal diagnosis of UCC and to conduct a precise anatomical survey of intrauterine abnormalities. There have been few reports of antenatal diagnosis of UCC with the conventional two- and three-dimensional ultrasonography. In this report, we demonstrate the novel visual depiction of UCC in utero with three-dimensional HDlive imaging, which helps substantially with prenatal diagnosis...
August 10, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28796631/endocrine-disruption-in-human-fetal-testis-explants-by-individual-and-combined-exposures-to-selected-pharmaceuticals-pesticides-and-environmental-pollutants
#4
Pierre Gaudriault, Séverine Mazaud-Guittot, Vincent Lavoué, Isabelle Coiffec, Laurianne Lesné, Nathalie Dejucq-Rainsford, Martin Scholze, Andreas Kortenkamp, Bernard Jégou
BACKGROUND: Numerous chemicals are capable of disrupting androgen production, but the possibility that they might act together to produce effects greater than those of the most effective component in the mixture has not been studied directly in human tissues. Suppression of androgen synthesis in fetal life has been associated with testis maldescent, malformations of the genitalia at birth, and poor semen quality later in life. OBJECTIVES: Our aim was to investigate whether chemicals can act together to disrupt androgen production in human fetal testis explants and to evaluate the importance of mixture effects when characterizing the hazard of individual chemicals...
August 4, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28794394/review-of-toxicity-studies-of-carbon-nanotubes
#5
Norihiro Kobayashi, Hiroto Izumi, Yasuo Morimoto
OBJECTIVE: We reviewed studies on pulmonary, reproductive, and developmental toxicity caused by carbon nanotubes (CNTs). In paricular, we analyzed how CNT exposure affects the several processes of pulmonary toxicity, including inflammation, injury, fibrosis, and pulmonary tumors. METHODS: In pulmonary toxicity, there are various processes, including inflammation, injury, fibrosis, respiratory tumor in the lungs, and biopersistence of CNTs and genotoxicity as tumor-related factors, to develop the respiratory tumor...
August 8, 2017: Journal of Occupational Health
https://www.readbyqxmd.com/read/28793177/infants-with-prenatally-diagnosed-kidney-anomalies-have-an-increased-risk-of-urinary-tract-infections
#6
Maria Rasmussen, Lone Sunde, René Frydensbjerg Andersen, Olav Bjørn Petersen, Morten Smaerup Olsen
AIM: This study estimated the urinary tract infection (UTI) risk in a nationwide cohort of infants prenatally diagnosed with parenchymal kidney anomalies compared with a comparison cohort. METHODS: A Danish population-based nationwide cohort of fetuses diagnosed with parenchymal kidney anomalies between 2007 and 2012 had previously been identified. These were compared with fetuses without kidney anomalies who were prenatally scanned the same year. Live born infants were followed from birth until the diagnosis of UTI, emigration, death or two years of age...
August 9, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28783850/fetal-skeletal-lethal-dysplasia-case-report
#7
Alexandre Mello Savoldi, Maria Auxiliadora Monteiro Villar, Heloisa Novaes Machado, Juan C Llerena Júnior
The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia (SD), demand a multidisciplinary approach coordinated by an experienced physician. Based on the presentation of a case of osteogenesis imperfecta type IIA, we offer and discuss recommendations with the intention of organizing clinical and laboratory investigations aiming toward the clinical management, prognosis, and etiological diagnosis of these malformations, as well as genetic counselling to patients who wish to become pregnant...
August 7, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28782259/prenatal-assessment-of-cerebellar-vermian-lobulation-fetal-mri-with-3-tesla-post-mortem-correlation
#8
Gregor O Dovjak, Peter C Brugger, Gerlinde M Gruber, Jae W Song, Michael Weber, Georg Langs, Dieter Bettelheim, Daniela Prayer, Gregor Kasprian
OBJECTIVES: To optimize the imaging assessment of fetal hindbrain malformations, this observational MRI study aimed to provide quantitative biometric data in normal vermian development in human fetal brains in vivo. METHODS: In this retrospective, review board approved study, 78 fetuses (18-32 gestational weeks (GW)) scanned prenatally at 1.5T, and seven fetuses (16-30GW), scanned within 24 hours post-mortem at 3T,were included. All fetal brains were segmented on a T2-weighted midline sagittal slice...
August 6, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28762666/developmental-toxicity-evaluation-of-pimenta-pseudocaryophyllus-gomes-landrum-e-methyl-isoeugenol-chemotype-in-wistar-rats
#9
Bruce Soares Cardoso, Katia Borges Machado, José Realino de Paula, Joelma Abadia Marciano de Paula, Wilson de Melo Cuvinel, Vanessa Cristiane Santana Amaral
BACKGROUND: Pimenta pseudocaryophyllus (Gomes) Landrum (Myrtaceae) has been traditionally used in Brazilian folk medicine. Studies have established the botanical characterization, phytochemistry profile, and pharmacological potential of this species, including antibiotic, anxiolytic, antidepressant, antioxidant, antinociceptive, and anti-inflammatory properties. Despite its widespread use, no previous study has been conducted regarding its toxicological profile, especially during pregnancy...
August 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28758373/fetal-cerebral-ventricular-dilatation-etiopathogenic-study-of-130-observations
#10
Sihem Darouich, Lucile Boutaud, Bettina Bessières, Maryse Bonnière, Jelena Martinovic, Charlotte Mechler, Caroline Alby, Jean-Pierre Bernard, Philippe Roth, Yves Ville, Valerie Malan, Michel Vekemans, Tania Attié-Bitach, Férechté Encha-Razavi
BACKGROUND: Fetal cerebral ventricular dilatation (CVD) is a common abnormal prenatal finding that often predicts a poor prognosis. The etiology involves both genetic and nongenetic factors with diverse pathogenic mechanisms. We describe the neuropathological features of CVD in a large cohort of fetuses. The goals are to determine the physiopathological mechanisms and etiologies. METHODS: We retrospectively analyzed a series of 130 fetuses examined at the Necker University Hospital following termination of pregnancy between January 2000 and December 2014...
July 31, 2017: Birth defects research
https://www.readbyqxmd.com/read/28755531/the-role-of-ultrasound-in-the-prediction-of-birth-weight-discordance-in-twin-pregnancies-are-we-there-yet
#11
Ana Raquel Neves, Filipa Nunes, Miguel Branco, Maria do Céu Almeida, Isabel Santos Silva
OBJECTIVE: To analyze the accuracy of ultrasound prediction of birth weight discordance (BWD) and the influence of chorionicity and fetal growth restriction (FGR) on ultrasound performance. METHODS: Retrospective analysis of 176 twin pregnancies at a Portuguese tertiary center, between 2008 and 2014. Last ultrasound biometry was recorded. Cases with delivery before 24 weeks, fetal malformations, interval between last ultrasound and deliver >3 weeks, twin-to-twin transfusion syndrome and monoamniotic pregnancies were excluded...
July 29, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28755466/hypospadias-intrauterine-growth-restriction-and-abnormalities-of-the-placenta
#12
M Hassan Toufaily, Drucilla J Roberts, Marie-Noel Westgate, Anne-Therese Hunt, Lewis B Holmes
BACKGROUND: Hypospadias is more common among male infants with growth restriction, defined as a birth weight less than the 10(th) centile, than in infants with a normal birth weight. Intrauterine growth retardation (IUGR) has been associated, also, with abnormalities of the placenta, such as maternal vascular malperfusion. In a consecutive sample of newborn infants, the association between hypospadias, IUGR and abnormalities of the placenta could be analyzed. METHODS: Affected infants were identified among 289,365 liveborn and stillborn infants in the Active Malformations Surveillance Program between 1972 and 2012...
July 29, 2017: Birth defects research
https://www.readbyqxmd.com/read/28753246/outcome-of-prenatally-diagnosed-congenital-lung-anomalies-in-the-north-of-england-a-review-of-228-cases-to-aid-in-prenatal-counselling
#13
Lesley Walker, Kelly Cohen, Judith Rankin, David Crabbe
OBJECTIVE: To describe data on congenital lung anomalies identified on antenatal ultrasound from two centres in the North of England. METHOD: This retrospective case series includes all cases notified to the Northern Congenital Abnormality Survey (NorCAS) from 1990 - 2010 and to Leeds Regional Fetal Medicine Unit (LFMU) 2000 - 2015. RESULTS: There were a total of 228 cases, 101 from NorCAS and 127 from LFMU. 85% were unilateral congenital pulmonary airway malformation (CPAMs), 2% bilateral CPAMs and 11% bronchopulmonary sequestrations...
July 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28749478/molecular-autopsy-in-maternal-fetal-medicine
#14
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Zain Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed Kurdi, Mais Hashem, Tarfa Alshidi, Eman Al-Obeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El-Akouri, Mariam Al Mulla, Tawfeg Ben-Omran, Matthias Pergande, Sebahattin Cirak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S Alkuraya
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%)...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28741114/-fetal-autopsies-relic-or-still-a%C3%A2-gold-standard
#15
J Andruszkow, W Weichert, T Braunschweig, R Knüchel-Clarke, F Erlmeier
BACKGROUND: Fetal autopsy rates are decreasing in Western countries although post-mortem examinations render important information for the parents concerning the cause of abortion and risk of recurrence in future pregnancies. OBJECTIVE: The intention of the presented study was to analyze the development of fetal autopsies in Germany during the last decade and to review accessible information obtained by fetal autopsy. MATERIAL AND METHODS: Reports of fetal autopsies conducted in two German university Institutes of pathology between 2005 and 2014 were evaluated retrospectively...
July 24, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28739361/gender-affects-long-term-neurologic%C3%A2-outcome-of-neonates
#16
Amir Freud, Eyal Sheiner, Tamar Wainstock, Daniella Landau, Asnat Walfisch
OBJECTIVE: We evaluated the possible association between fetal gender and long-term pediatric neurological morbidity. METHODS: We performed a population-based retrospective cohort analysis comparing the risk of long-term neurological morbidity (up to age 18 years) of children born during the years 1991 to 2013 according to their gender. Neurological morbidity evaluated included hospitalizations in childhood involving pervasive developmental disorder, obstructive sleep apnea, cerebral palsy, epilepsy, and infantile spasms and disorders of eating as recorded in the hospital files...
April 24, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28739257/lack-of-epithelial-ppar%C3%AE-causes-cystic-adenomatoid-malformations-in-mouse-fetal-lung
#17
Jung-Hwan Kim, Satoshi Yamaori, Tomotaka Tanabe, Mitsuhiro Takagi, Tsutomu Matsubara, Minoru Okamoto, Shioko Kimura, Frank J Gonzalez
Peroxisome proliferator-activated receptor-γ (PPARγ) plays an important role in lipid and glucose metabolism. In this study, the function of PPARγ on lung development was investigated. Lung-specific Pparg conditional knockout mice (Pparg(ΔLuEpC)) were developed using Cre-Lox system. Pparg(ΔLuEpC) mice showed abnormal lung development with enlarged airspaces and followed by increase of apoptotic cells at E14.5 to E18.5. Gene analysis revealed that expression of Pmaip1, a gene related to apoptosis, was significantly increased while expression of Retnla, a gene related to anti-apoptosis, was dramatically decreased in the fetal lung (E14...
July 21, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28737875/-intestinal-cystic-duplication-case-report
#18
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
#19
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
#20
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
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