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Fetal malformations

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https://www.readbyqxmd.com/read/29149698/ectrodactyly-in-a-chinese-patient-born-to-a-mother-with-neuromyelitis-optica-spectrum-disorder
#1
Yanyu Chang, Yaqing Shu, Xiaobo Sun, Chengfang Xu, Dan He, Ling Fang, Chen Chen, Xueqiang Hu, Allan Kermode, Wei Qiu
NMOSD develops primarily in women of childbearing age, and several previous studies have shown that the disorder may increase the risk of miscarriage. However, there are no reports, to our knowledge, of fetal malformation, other than neonatal hydrocephalus, related to NMOSD. We report a 30-year-old woman who experienced recurrent neuritis and who was seropositive for AQP4-IgG. She became pregnant, and the fetus was found to have ectrodactyly. Histological analysis of the placenta showed moderate inflammatory infiltration; however, whether fetal malformation in NMOSD is related to inflammation and AQP4-IgG remains to be determined...
November 8, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29149523/amniocentesis-is-still-the-best-option-for-advanced-genomic-testing-in-case-of-fetal-malformations
#2
M C de Wit, E M Bunnik, A T J I Go, I D de Beaufort, R M W Hofstra, E A P Steegers, R J H Galjaard
No abstract text is available yet for this article.
November 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29145358/progress-in-rubella-and-congenital-rubella-syndrome-control-and-elimination-worldwide-2000-2016
#3
Gavin B Grant, Susan E Reef, Minal Patel, Jennifer K Knapp, Alya Dabbagh
Although rubella virus infection usually causes a mild fever and rash illness in children and adults, infection during pregnancy, especially during the first trimester, can result in miscarriage, fetal death, stillbirth, or infants with a constellation of congenital malformations known as congenital rubella syndrome (CRS) (1). Rubella is a leading vaccine-preventable cause of birth defects. Preventing these adverse pregnancy outcomes is the focus of rubella vaccination programs. In 2011, the World Health Organization (WHO) updated guidance on the preferred strategy for introduction of rubella-containing vaccine (RCV) into national immunization schedules and recommended an initial vaccination campaign, usually targeting children aged 9 months-14 years (1)...
November 17, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29142763/array-characterization-of-prenatally-diagnosed-15q26-microdeletion-and-2q37-1-duplication-report-of-a-new-case-with-multicystic-kidneys-and-review-of-the-literature
#4
Molka Kammoun, Wafa Slimani, Hanene Hannachi, Mohamed Bibi, Ali Saad, Soumaya Mougou-Zerelli
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142173/effect-of-dibutyltin-on-placental-and-fetal-toxicity-in-rat
#5
Satoshi Furukawa, Naho Tsuji, Yoshiyuki Kobayashi, Yoshikazu Yamagishi, Seigo Hayashi, Masayoshi Abe, Yusuke Kuroda, Masayuki Kimura, Chisato Hayakawa, Akihiko Sugiyama
In order to elucidate the effect of chorioallantoic and yolk sac placenta on the embryonic/fetal toxicity in dibutyltin dichloride (DBTCl)-exposed rats, we examined the histopathological changes and the tissue distribution of dibutyltin in the placentas and embryos. DBTCl was orally administered to the groups at doses of 0 mg/kg during gestation days (GD)s 7-9 (control group) and 20 mg/kg during GDs 7-9 (GD7-9 treated group), and GDs 10-12 (GD10-12 treated group). The total fetal mortality was increased, and malformations characterized by craniofacial dysmorphism were detected in the GD7-9 treated group...
2017: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/29136712/-long-term-outcome-and-prognostic-factors-in-pregnant-women-with-pulmonary-arterial-hypertension-associated-with-congenital-heart-disease
#6
Q T Ou, J K Lu, J Zhang, Y Chen, Q Li, J L Zhang
Objective: To investigate the perinatal outcome, risk factors and long-term outcome of pregnancy complicated with pulmonary arterial hypertension(PAH) and congenital heart diseases (CHD). Methods: Clinical data of 110 pregnant women who were diagnosed as PAH-CHD were retrospectively analyzed in the Department of Obstetrics and Gynecology and Surgical Intensive Care Unit at Beijing Anzhen Hospital from 2004 to 2013. The survival and treatment status were followed up. Results: 110 subjects consisted of 11 mild PAH, 33 moderate and 66 severe ones...
November 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29135270/-effectiveness-of-prenatal-ultrasound-in-fetal-and-neonatal-malformations-and-examination-of-difficulty-and-uncertainty-factors
#7
Fanni Rebeka Erős, Artúr Beke
INTRODUCTION AND AIM: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations. METHOD: We have processed the prenatal sonographic and postnatal clinical details of 1867 inborn abnormalities in 1200 fetuses over a 7-year period. RESULTS: The mean maternal age upon delivery/abortion was 29.96 ± 5.88 years. In 671 cases, the pregnancy concluded in delivery with a mean gestational age of 35...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29113511/analysis-of-the-clinical-outcomes-of-fetal-bowel-dilatation-combined-with-other-abnormal-ultrasonographic-features
#8
Suting Xu, Wei Zhong, Zhuanxing Shen, Changping Dai, Huimin Xia, Qiansi Guan, Lihua Bai, Jiakang Yu
OBJECTIVES: To explore the significance of fetal bowel dilatation combined with other abnormal ultrasound features in the diagnosis of gastrointestinal malformation. METHODS: A retrospective study of fetuses with bowel dilatation was performed, from August 2012 to October 2015. All the cases were identified from the ultrasound database and all observations of the relationship of prenatal abnormal abdominal ultrasound features and intestinal malformation were performed through the infancy stage...
November 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29112520/maternal-diabetes-mellitus-and-genital-anomalies-in-male-offspring-a-nationwide-cohort-study-in-two-nordic-countries
#9
Linn Håkonsen Arendt, Morten Søndergaard Lindhard, Tine Brink Henriksen, Jørn Olsen, Sven Cnattingius, Gunnar Petersson, Erik Thorlund Parner, Cecilia Høst Ramlau-Hansen
BACKGROUND: Diabetes in pregnancy has been associated with an increased risk of congenital malformations overall, but studies on genital anomalies in boys are conflicting and possible causal mechanisms are not well understood. Previous studies have mainly assessed pre-gestational and gestational diabetes in combination. Yet considering the vulnerable time windows for the genital anomalies, associations could well differ between types of diabetes and between the two genital anomalies and we therefore aimed to study this further...
November 6, 2017: Epidemiology
https://www.readbyqxmd.com/read/29102110/fetopathic-effects-of-experimental-schmallenberg-virus-infection-in-pregnant-goats
#10
Eve Laloy, Emmanuel Bréard, Sascha Trapp, Nathalie Pozzi, Mickaël Riou, Céline Barc, Sylvain Breton, Rémi Delaunay, Nathalie Cordonnier, Sophie Chateau-Joubert, Didier Crochet, Julie Gouzil, Typhaine Hébert, Maxime Raimbourg, Cyril Viarouge, Damien Vitour, Benoît Durand, Claire Ponsart, Stéphan Zientara
Schmallenberg virus (SBV) is an emerging virus responsible for congenital malformations in the offspring of domestic ruminants. It is speculated that infection of pregnant dams may also lead to a significant number of unrecognized fetal losses during the early period of gestation. To assess the pathogenic effects of SBV infection of goats in early pregnancy, we inoculated dams at day 28 or 42 of gestation and followed the animals until day 55 of gestation. Viremia in the absence of clinical signs was detected in all virus-inoculated goats...
November 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/29099873/assessing-zika-virus-replication-and-the-development-of-zika-specific-antibodies-after-a-mid-gestation-viral-challenge-in-guinea-pigs
#11
Craig J Bierle, Claudia Fernández-Alarcón, Nelmary Hernandez-Alvarado, Jason C Zabeli, Bradley C Janus, Dira S Putri, Mark R Schleiss
Primary Zika virus (ZIKV) infections that occur during pregnancy can cause spontaneous abortion and profoundly disrupt fetal development. While the full range of developmental abnormalities associated with congenital Zika syndrome is not yet known, severe cases of the syndrome can present with microcephaly, extensive neurologic and ocular damage, and pronounced joint malformations. Animal models that accurately recapitulate congenital Zika syndrome are urgently needed for vaccine development and for the study of ZIKV pathogenesis...
2017: PloS One
https://www.readbyqxmd.com/read/29097239/studies-on-the-environmental-fate-ecotoxicology-and-toxicology-of-2-methyl-1-3-propanediol
#12
REVIEW
J Fowles, C Lewis, E Rushton
2-methyl 1,3-propandiol (MPD) is a low molecular weight, colorless glycol used in polymer and coating applications. The log Kow of -0.6 suggests partitioning to aqueous phases with a low concern for possible bioaccumulation. MPD was found to be inherently biodegradable. Ecotoxicological results in several aquatic and terrestrial species found no significant hazard potential. MPD is rapidly absorbed via the oral and dermal routes, metabolized to 3-hydroxybutyrate, and excreted in urine with a half-life of 3...
October 28, 2017: Regulatory Toxicology and Pharmacology: RTP
https://www.readbyqxmd.com/read/29080015/expression-of-xenobiotic-biomarkers-cyp1-family-in-preputial-tissue-of-patients-with-hypospadias-and-phimosis-and-its-association-with-dna-methylation-level-of-srd5a2-minimal-promoter
#13
Seiichiroh Ohsako, Toshiki Aiba, Mami Miyado, Maki Fukami, Tsutomu Ogata, Yutaro Hayashi, Kentaro Mizuno, Yoshiyuki Kojima
Several epidemiological studies have suggested that the incidence of male reproductive organ malformations, including hypospadias or cryptorchidism, has increased due to fetal-stage exposure to environmental pollutants. However, the association of chemical exposure with the expression of target regulatory genes in the tissues of patients has not yet been reported. Because experimental approaches or clinical trials in human studies are limited, especially those using fetal and/or infants, it is difficult to obtain clear physiological evidence of mechanisms underlying male reproductive malformations...
October 27, 2017: Archives of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/29073690/fetal-valproate-syndrome-still-a-problem-today
#14
Katharina Wiedemann, Tanja Stüber, Monika Rehn, Eric Frieauff
Introduction Fetal exposition to valproate can lead to a cluster of facial dysmorphism, congenital anomalies and neurodevelopmental retardation. Case Report In this report we describe 2 cases of fetal valproate syndrome. In the first case, the gravida had a valproate medication before and during pregnancy with additional folic acid. She delivered a male premature infant at 25+2 weeks of gestation due to preterm labor and rupture of the membranes. Physical examination showed even in the premature infant typical signs of fetal valproate syndrome with trigonocephaly, epicanthal folds, broad root of the nose, low-set ears, thin upper lip and anteverted nares...
October 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/29072954/fetal-vascular-malperfusion
#15
REVIEW
Amer Heider
CONTEXT: - Fetal vascular malperfusion, also known as fetal thrombotic vasculopathy, remains an underrecognized pathologic finding and should be noted during placental evaluation. OBJECTIVE: - To review histologic findings, gain familiarity with the updated terminology, and to recognize important clinical associations with this entity. DATA SOURCES: - University of Michigan cases, PubMed search, multiple review articles including recent placental workshop group consensus statement, and selected book chapters...
November 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29069552/-i-xenopus-i-embryos-to-study-fetal-alcohol-syndrome-a-model-for-environmental-teratogenesis
#16
Abraham Fainsod, Hadas Kot-Leibovich
Vertebrate model systems are central to characterize the outcomes of ethanol exposure and the etiology of Fetal Alcohol Spectrum Disorder (FASD), taking advantage of their genetic and morphological closeness and similarity to humans. We discuss the contribution of amphibian embryos to FASD research, focusing on <i>Xenopus</i> embryos. The <i>Xenopus</i> experimental system is characterized by external development and accessibility throughout embryogenesis, large clutch sizes, gene and protein activity manipulation, transgenesis and genome editing, convenient chemical treatment, explants and conjugates and many other experimental approaches...
October 25, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29061174/de-novo-chromosome-7q36-1q36-2-triplication-in-a-child-with-developmental-delay-growth-failure-distinctive-facial-features-and-multiple-congenital-anomalies-a-case-report
#17
Muna A Al Dhaibani, Diane Allingham-Hawkins, Ayman W El-Hattab
BACKGROUND: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29057694/early-unexpected-diagnosis-of-fetal-life-limiting-malformation-antenatal-palliative-care-and-parental-decision
#18
Federico Mariona, Marianne Burnett, Melody Zoma, Janice Blake, Hanna Khouri
INTRODUCTION: Conjoined twins are an infrequent occurrence in obstetric practice. Live-conjoined twins on a late preterm triplet pregnancy is an even rarer event. OBJECTIVE: The objective of this study is to emphasize the critical importance of perinatal palliative care and non-directive parental counseling, informed decision making and respect for autonomy following full disclosure of findings, fetal life-limiting diagnosis, treatment alternatives, maternal-fetal potential complications, and most likely perinatal outcomes...
November 2, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29057434/early-vesico-amniotic-shunting-does-it-change-the-prognosis-in-fetal-lower-urinary-tract-obstruction-diagnosed-in-the-first-trimester
#19
Marzena Dębska, Piotr Kretowicz, Anna Olędzka, Piotr Gastoł, Joanna Dangel, Małgorzata Świątkowska-Freund, Romuald Dębski
OBJECTIVES: The aim of the study was to assess the outcome of vesico-amniotic shunting performed before 16 weeks of pregnancy in fetuses with severe megacystis diagnosed in the first trimester of pregnancy. MATERIAL AND METHODS: Between January 2008 and October 2012 severe megacystis with the bladder length > 15 mm was diagnosed in 17 fetuses. The procedure of early vesico-amniotic shunting (VAS) was offered to 8 patients with presumably isolated LUTO. The procedure of VAS was performed in 6 fetuses...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/29055477/pregnancy-in-multiple-sclerosis-a-portuguese-cohort-study
#20
Joana Jesus-Ribeiro, Inês Correia, Ana Inês Martins, Manuel Fonseca, Inês Marques, Sónia Batista, Carla Nunes, Carmo Macário, Maria Céu Almeida, Lívia Sousa
BACKGROUND: Pregnancy in Multiple Sclerosis (MS) has been a controversial issue, without international standardized treatment recommendations. The goal of our study was to evaluate the clinical course of MS during pregnancy and the respective therapeutic options, obstetrical outcomes and breastfeeding data. METHODS: This was a retrospective study including women with a diagnosis of relapsing-remitting MS at least one year before pregnancy. Three periods were evaluated: one year prior to pregnancy, pregnancy and one year postpartum...
October 2017: Multiple Sclerosis and related Disorders
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