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Fetal anomaly

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https://www.readbyqxmd.com/read/29049852/parental-experiences-of-prenatal-whole-exome-sequencing-wes-in-cases-of-ultrasound-diagnosed-fetal-structural-anomaly
#1
Elizabeth Quinlan-Jones, Sarah C Hillman, Mark D Kilby, Sheila M Greenfield
OBJECTIVE: To explore parental experiences of WES for prenatal diagnosis, and ascertain what influenced their decision-making to undergo testing. METHOD: Twelve women comprised a purposeful sample in a series of semi-structured interviews. All had received a fetal anomaly diagnosis on ultrasound. A topic guide was used, and transcripts were thematically analysed to elicit key themes. RESULTS: Five main themes (parental experiences of prenatal WES, need for information, consent/reasons for prenatal WES, sources of support for prenatal WES, and return of WES findings to families) emerged, some with multiple sub-themes...
October 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29046228/should-we-perform-in-utero-mri-on-a-fetus-at-increased-risk-of-a-brain-abnormality-if-ultrasonography-is-normal-or-shows-non-specific-findings
#2
REVIEW
P D Griffiths, C Mooney, M Bradburn, D Jarvis
There are a number of reasons why a pregnant woman might be considered to have an increased risk of carrying a fetus with a brain abnormality, but they fall broadly into two groups. First, there may be a relevant family history usually, but not always, when a fetus/child from a previous pregnancy has a developmental brain abnormality and a clinical geneticist judges that there is a risk of recurrence. Second, there may be findings in their current pregnancy that increases the risk of the fetus either having a developmental brain abnormality or accruing acquired brain pathology...
October 15, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/29044348/sonographically-abnormal-placenta-an-association-with-an-increased-risk-poor-pregnancy-outcomes
#3
W D Wan Masliza, M Y Bajuri, M R Hassan, N M Naim, A Shuhaila, S Das
BACKGROUND: The placenta is a most interesting but unfortunately often ignored and misunderstood organ. Placental abnormalities, therefore, can be an "early warning system" for fetal problems. A complete prenatal sonographic examination of the placenta is an essential component as its abnormalities can have a direct effect on fetal or maternal outcomes, obstetrical management and future fertility. OBJECTIVE: To determine whether any association exists between the finding of an increased thickness of placenta, abnormal placenta shape, placental calcification, placental lake and abnormal cord insertion site at 20-22 and 30-32 weeks gestation with an increased risk of uteroplacental complications or a poor pregnancy outcome...
September 2017: La Clinica Terapeutica
https://www.readbyqxmd.com/read/29043688/-correlation-between-prenatal-ultrasound-and-postnatal-diagnosis-of-birth-defects
#4
F J Murcia Pascual, L Delgado Cotán, V Jiménez Crespo, F Vázquez Rueda, E Rodríguez Cano, M Miño Mora, R M Paredes Esteban
OBJECTIVES: To assess the accuracy of prenatal ultrasound diagnosis and to analyze the protocol applied for congenital defects (CD) in our environment. METHODS: Descriptive study of prenatally diagnosed CD in our area between 2004-2013. Includes: total births, fetal medicine referrals (number of consultations, ultrasound, invasive techniques) anatomical and chromosomal abnormalities, confirmed diagnoses, necropsies performed, false diagnoses, absence of prenatal diagnoses, and number and reasons for abortions (VIEs)...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29042787/perinatal-and-follow-up-outcome-study-of-fetal-anomalies-with-multidisciplinary-consultation
#5
Genxia Li, Na Yang, Mingkun Xie, Yajuan Xu, Ning Han, Qi Chen, Hezhou Li, Yueli Wu, Chunhua Cheng, Yuhong Wang, Man Zhou, Bo Xia, Shuhua Guo, Shihong Cui
SYNOPSIS: The establishment of a multidisciplinary consultation system is necessary for the diagnosis of complicated fetal anomalies. PURPOSE: We aimed to investigate the incidences of different types of fetal anomalies and the influence of multidisciplinary consultation on fetal prognosis. PATIENTS AND METHODS: Multidisciplinary specialists include obstetricians, pediatricians, pediatric surgeons, and experts of ultrasound department and genetic counseling...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29041834/quality-assessment-of-the-detailed-anomaly-ultrasound-scan
#6
Athena P Souka, Athanasios Pilalis, Ioannis Papastefanou, Makarios Eleftheriadis, George Papadopoulos
OBJECTIVES: The objective of this study is to assess the quality of the views in the detailed anomaly ultrasound scan and examine the parameters that influence it. METHODS: Prospective study on singleton pregnancies examined at 20-24 weeks. Detailed views of all fetal organs were classified by the examiner as optimal/suboptimal. The duration of the examination was observed. Maternal characteristics, Fat Index (FI) (distance between the skin and the surface of the uterus), and fetal position were recorded...
October 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29037557/prenatal-diagnosis-of-isochromosome-20q-in-a-fetus-with-vertebral-anomaly-and-rocker-bottom-feet
#7
Aline Receveur, Sophie Brisset, Jelena Martinovic, Anne Bazin, Laurence Lhomann, Claire Colmant, Dominique Pineau, Valérie Gautier, Lucie Tosca, Gérard Tachdjian
OBJECTIVE: Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We describe a new prenatal case of i(20q) with fetal malformations. MATERIALS AND METHODS: We also observed a discrepancy between uncultured and cultured amniotic fluid cells by using conventional cytogenetic, fluorescence in situ hybridization and array-SNP analysis...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037169/left-ventricular-non-compaction-cardiomyopathy-with-coronary-artery-anomaly-complicated-by-ventricular-tachycardia
#8
Gustav Mattsson, Abdullah Baroudi, Hoshmand Tawfiq, Peter Magnusson
BACKGROUND: Non-compaction cardiomyopathy (NCCM) is characterized by prominent trabeculations, deep intertrabecular recesses, and a thick non-compacted endocardial myocardium. Prevalence in the general population remains unclear, but echocardiography series report 0.05%. During fetal development muscle fibers and trabeculae should compact into a solid myocardium and when this fails, NCCM occurs. The condition is genetic, even though acquired forms have been described. Worsening myocardial dysfunction may lead to heart failure and/or arrhythmias...
October 16, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29033614/fusion-of-lower-limbs-with-severe-urogenital-malformation-in-a-newborn-a-rare-congenital-clinical-syndrome-case-report
#9
Fatemah Al Hadhoud, Abeer H Kamal, Abdulmohsen Al Anjari, Michael Fe Diejomaoh
BACKGROUND: Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. CASE REPORT: Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29032167/evaluation-of-embryotoxic-and-teratogenic-effects-of-the-oil-extracted-from-caryocar-brasiliense-cambess-pulp-in-rats
#10
Giseli Karenina Traesel, Fernando Freitas de Lima, Ariany Carvalho Dos Santos, Roosevelt Isaias Carvalho Souza, Daniela Torres Cantadori, Carlos Roberto Kretschmer, Vinicius João Navarini, Silvia Aparecida Oesterreich
The objective of this study was to evaluate the maternal, embryotoxic and teratogenic effects of Caryocar brasiliense pulp oil (OPCB), oil widely used in Brazilian cuisine and traditional medicine. Pregnant Wistar female rats were used in this study for three treatment groups (250, 500 and 1000 mg/kg/day) and a control group. The OPCB was administered orally throughout the period of organogenesis of females (6th until the 15th day of gestation). The pregnant females were gross necropsied on d20, followed by maternal and fetus examination, to evaluate the teratogenicity, reproductive and developmental performance of OPCB...
October 12, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/29031020/fetal-mri-lower-acceptance-by-women-in-research-vs-clinical-setting
#11
Bloeme J van der Knoop, Roland J Vermeulen, Jonathan I M L Verbeke, Lourens R Pistorius, Johanna I P de Vries
AIM: To determine acceptance of pregnant women to undergo fetal magnetic resonance imaging (MRI) examination in research and clinical setting. METHODS: A prospective study included a research group [part of a study comparing brain ultrasound (US) to MRI in fetuses at risk for acquired brain damage] and a clinical group [fetuses with suspected (brain) anomalies after structural US examination] from 2011 to 2014. All women were advised to use sedatives. MRI declinations, use of sedation, MRI duration and imaging quality were compared between both groups...
October 14, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29020780/-selective-feticide-in-monochorionic-twin-pregnancies-with%C3%A2-discordant-fetal-anomalies-management-and-outcome
#12
J Vojtěch, L Hašlík, R Pock, K Běhávková, K Macková, P Hanulíková, H Heřman, L Krofta
OBJECTIVE: To analyze results and outcome after selective feticide for discordant anomalies in monochorionic twins. DESIGN: Prospective cohort study. SETTING: Fetal medicine center, Institute for the Care of Mother and Child, Praha. METHODS: Analysis of outcome of monochorionic pregnancies after intrauterine surgery for structural abnormalities between January 2013 and June 2016. RESULTS: We performed 13 intrauterine operations in monochorionic twins with structural anomalies during the period...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/29017665/folic-acid-effect-on-artemether-induced-cardiac-anomalies-in-mice-embryos
#13
Muhammad Shahid Akhtar, Mohammad Tahir
OBJECTIVE: To determine the role of folic acid in preventing the adverse effects of artemether, on fetal heart in Albino mice. STUDY DESIGN: Experimental study. PLACE AND DURATION OF STUDY: Department of Anatomy, University of Health Sciences, Lahore, from July 2011 to January 2012. METHODOLOGY: Eighteen pregnant Albino mice were randomly divided into three groups A, B, and C of six mice each. The control group Awas treated with intramuscular injection of solvent arachis oil 10...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29016512/trial-of-labor-compared-with-cesarean-delivery-in-superobese-women
#14
Jennifer L Grasch, Jennifer L Thompson, J Michael Newton, Amy W Zhai, Sarah S Osmundson
OBJECTIVE: To examine whether labor compared with planned cesarean delivery is associated with increased maternal and neonatal morbidity. METHODS: We conducted a retrospective cohort study of all women with body mass indexes (BMIs) at delivery of 50 or greater delivering a live fetus at 34 weeks of gestation of greater between January 1, 2008, and December 31, 2015. Pregnancies with multiple gestations and major fetal anomalies were excluded. The primary outcome was a composite of maternal and neonatal morbidity and was estimated to be 50% in superobese women based on institutional data...
October 6, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28993650/development-of-a-machine-learning-algorithm-to-classify-drugs-of-unknown-fetal-effect
#15
Mary Regina Boland, Fernanda Polubriaginof, Nicholas P Tatonetti
Many drugs commonly prescribed during pregnancy lack a fetal safety recommendation - called FDA 'category C' drugs. This study aims to classify these drugs into harmful and safe categories using knowledge gained from chemoinformatics (i.e., pharmacological similarity with drugs of known fetal effect) and empirical data (i.e., derived from Electronic Health Records). Our fetal loss cohort contains 14,922 affected and 33,043 unaffected pregnancies and our congenital anomalies cohort contains 5,658 affected and 31,240 unaffected infants...
October 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28992728/use-of-ex-utero-intrapartum-treatment-procedure-in-fetal-neck-and-high-airway-anomalies-report-of-four-clinical-cases
#16
Jakub Kornacki, Jarosław Szydłowski, Jana Skrzypczak, Małgorzata Szczepańska, Marcin Rajewski, Agnieszka Koziołek, Michał Gaca, Ewa Wender-Ozegowska
We have presented four different cases of fetal neck or airway pathology which were indications for ex utero intrapartum treatment (EXIT), at our department. In three cases of fetal neck tumors, the primary precise antenatal diagnoses of tumors were confirmed after birth. The airways of all three fetuses were properly secured during EXIT by laryngologist. All these newborns survived. In the fourth case, a primary, antenatal diagnosis of congenital high airway obstruction syndrome due to severe trachea obstruction was not confirmed after birth...
October 9, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28992718/advanced-maternal-age-and-risk-of-nonchromosomal-anomalies-data-from-a-tertiary-referral-hospital-in-turkey
#17
Berfin Okmen Ozkan, Nadiye Köroğlu, Lale Susan Turkgeldi, Berna Aslan Cetin, Halil Aslan
To determine if there is a relationship between nonchromosomal fetal anomalies of various organ systems and advanced maternal age.
October 9, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28992716/the-short-term-effect-of-smoking-on-fetal-ecg
#18
István Péterfi, Lóránd Kellényi, Lehel Péterfi, András Szilágyi
BACKGROUND: The number of women who smoke during pregnancy is significant even today. The harmful effects of smoking during peregnancy are well-known but there are no data on the effects of smoking on fetal electrocardiography (ECG). The lack of data is in connection with the difficulties of recording fetal ECG through the maternal abdomen. The study aimed to evaluate the direct effects of smoking on the fetal electrocardiography (ECG) during the third trimester of pregnancy. METHOD: Third trimester pregnant women who were not able to give up the harmful passion of smoking despite repeated attempts of persuasion were recruited in the study on voluntary basis...
October 9, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28981935/-application-of-array-comparative-genomic-hybridization-analysis-for-fetuses-with-growth-anomalies
#19
Lin Wang, Xiaobin Wang, Na Cai, Bin He, Qiuhua Wu, Wei Li, Liping Zhang, Xiaoping Ma, Rong Qiang
OBJECTIVE: To explore the genetic etiology for fetuses featuring intrauterine growth anomalies using array-based comparative genomic hybridization (aCGH). METHODS: Forty-nine fetuses were enrolled in this study. Genomic DNA of the abortive tissues was analyzed with aCGH. RESULTS: Fourteen (28.6%) samples were found with chromosomal aberrations, which included 8 chromosomal aneuploidies and 6 micro-aberrations (4 with known clinical pathogenecity and 2 with unknown clinical significance)...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28980329/a-case-of-prenatally-diagnosed-limited-dorsal-myeloschisis-with-good-prognosis
#20
Anne Sophie Lafitte, Marie Blouet, Frédérique Belloy, Alin Borha, Guillaume Benoist
Diagnosis of fetal spinal dysraphism is a challenge. It is difficult to distinguish between a meningocele, myelomeningocele, and a recently described entity called limited dorsal myeloschisis (LDM). Although myelomeningocele is associated with a poor prognosis, LDM can have a good outcome. We present a case of prenatally diagnosed LDM. Because sonographic examination revealed a round, cystic, septated cervical mass without associated cerebral anomalies, the lesion was initially considered an isolated meningocele...
October 5, 2017: Journal of Clinical Ultrasound: JCU
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