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https://www.readbyqxmd.com/read/28934815/-the-fetal-profile-more-than-just-nt
#1
Markus Hoopmann, Karl Oliver Kagan
The midsagittal view of the fetal profile is essential in first trimester screening at 11 + 0 to 13 + 6 weeks of gestation. None of the standard sections in prenatal medicine is as well defined and undergoes such a strong quality assurance program. These requirements were recently challenged by the introduction of cell-free DNA screening. The fetal profile view was previously only needed for the appropriate measurement of the fetal nuchal translucency thickness. In recent years, it became evident that there are many more anomalies or markers for fetal defects that can be seen in this section such as spina bifida, facial clefts or retrognathia...
September 21, 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28934068/upper-limb-hemimelia-in-a-twin-pregnancy-which-was-obtained-by-an-icsi-and-pgd-in-a-woman-with-mosaic-turner-s-syndrome-and-the-prognosis
#2
Ahter Tanay Tayyar, Ahmet Tayyar, Ahmet Eser, Çetin Kılıçcı, İlter Yenidede, Selçuk Selçuk
Turner's syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The purpose of this case report is to show that even a selection of normal karyotype embryos can result in abnormalities for those with mosaic TS. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype...
September 21, 2017: Organogenesis
https://www.readbyqxmd.com/read/28930371/polyhydramnios-frequency-of-congenital-anomalies-in-relation-to-the-value-of-the-amniotic-fluid-index
#3
Jakub Kornacki, Magdalena Adamczyk, Przemysław Wirstlein, Maciej Osiński, Ewa Wender-Ożegowska
OBJECTIVES: The aims of our study were to assess the correlation between the amniotic fluid index (AFI) value and the frequency and type of fetal anomalies. MATERIAL AND METHODS: The material included 94 patients at the third trimester of pregnancy, 60 with mild polyhydramnios, 19 with moderate one, and 15 with severe one. Polyhydramnios was diagnosed if AFI was > 24 cm. All patients were divided into three groups based on the value of AFI: 1) mild polyhydramnios with AFI between 24...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28928616/chronic-antepartum-maternal-hyperoxygenation-in-a-case-of-severe-fetal-ebstein-s-anomaly-with-circular-shunt-physiology
#4
Alisa Arunamata, David M Axelrod, Katherine Bianco, Sowmya Balasubramanian, Amy Quirin, Theresa A Tacy
Perinatal mortality remains high among fetuses diagnosed with Ebstein's anomaly of the tricuspid valve. The subgroup of patients with pulmonary valve regurgitation is at particularly high risk. In the setting of pulmonary valve regurgitation, early constriction of the ductus arteriosus may be a novel perinatal management strategy to reduce systemic steal resulting from circular shunt physiology. We report the use of chronic antepartum maternal oxygen therapy for constriction of the fetal ductus arteriosus and modulation of fetal pulmonary vascular resistance in a late presentation of Ebstein's anomaly with severe tricuspid valve regurgitation, reversal of flow in the ductus arteriosus, and continuous pulmonary valve regurgitation...
September 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#5
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28915235/transamniotic-stem-cell-therapy-trascet-a-novel-strategy-for-the-prenatal-management-of-congenital-anomalies
#6
REVIEW
Dario O Fauza
Transamniotic Stem Cell Therapy, or TRASCET, is an emerging therapeutic concept for the management of congenital anomalies based on the augmentation of the biological role of select populations of stem cells that already occur in the amniotic fluid, for targeted therapeutic benefit. Amniotic fluid-derived mesenchymal stem cells (afMSCs) play a central role in the enhanced ability of the fetus to repair tissue damage. This germane recent finding constitutes the biological foundation for the use of afMSCs in TRASCET...
September 15, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28912192/mechanical-cervical-ripening-for-women-with-prolongedpregnancies-magpop-protocol-for-a-randomised-controlled-trial-of-a-silicone-double-balloon-catheter-versus-the-propess-system-for-the-slow-release-of-dinoprostone-for-cervical-ripening-of-prolonged-pregnancies
#7
Caroline Diguisto, Amélie Le Gouge, Bruno Giraudeau, Franck Perrotin
INTRODUCTION: Induction of labour for prolonged pregnancies (PP) when the cervix is unfavourable is a challenging situation. Cervical ripening by pharmacological or mechanical techniques before oxytocin administration is used to increase the likelihood of vaginal delivery. Both techniques are equally effective in achieving vaginal delivery but excessive uterine activity, which induces fetal heart rate (FHR) anomalies, is more frequent after the pharmacological intervention. We hypothesised that mechanical cervical ripening could reduce the caesarean rate for non-reassuring FHR especially in PP where fetuses are already susceptible to this...
September 14, 2017: BMJ Open
https://www.readbyqxmd.com/read/28905984/fetal-intra-abdominal-umbilical-vein-aneurysm
#8
Stefano Raffaele Giannubilo, Angela Pasculli, Alessandro Cecchi, Alessandra Biagini, Andrea Ciavattini
Importance: Fetal umbilical vein aneurysm is an uncommon anomaly that accounts for approximately 4% of umbilical cord abnormalities. The rate of intrauterine fetal death is reported to be approximately 4% to 5%, higher than the background rate of 0.7% that is generally reported during pregnancy. Objective: The aim of this study was to review the pathophysiology, diagnosis, and clinical management of fetal umbilical vein aneurysm. Evidence Acquisition: Advances in high-resolution ultrasound combined with color Doppler and 3-dimensional rendering have contributed to an increased understanding of the fetal venous circulation in recent years...
September 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/28905115/clinical-application-of-snp-array-analysis-in-fetuses-with-ventricular-septal-defects-and-normal-karyotypes
#9
Fang Fu, Qiong Deng, Ting-Ying Lei, Ru Li, Xiang-Yi Jing, Xin Yang, Can Liao
PURPOSE: The present study aims to evaluate the utility of high-resolution single-nucleotide polymorphism (SNP) arrays in fetuses with ventricular septal defects (VSDs) with or without other structural anomalies but with normal karyotypes and to investigate the outcomes of cases of prenatal VSDs via clinical follow-up. METHODS: We analyzed 144 fetuses with VSDs and normal karyotypes using Affymetrix CytoScan HD arrays and the analyses were carried out a year after birth...
September 13, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28904928/prenatal-sonographic-diagnosis-of-hypoplastic-left-heart-syndrome
#10
Raghu Teja Sadineni, B Santh Kumar, N B Chander, Durga Mahita Boppana
Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. HLHS includes a wide spectrum of cardiac malformations including hypoplasia of the left ventricle, ascending aorta, hypoplasia, or atresia of the aortic and mitral valves. Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assessment of fetal anomalies have helped in understanding the spectrum and have expanded our knowledge of HLHS...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28898547/hlx-is-a-candidate-gene-for-a-pattern-of-anomalies-associated-with-congenital-diaphragmatic-hernia-short-bowel-and-asplenia
#11
Sandra A Farrell, Sandi Sodhi, Christian R Marshall, Andrea Guerin, Anne Slavotinek, Tara Paton, Karen Chong, Wilma L Sirkin, Stephen W Scherer, Félix-Antoine Bérubé-Simard, Nicolas Pilon
Isolated congenital diaphragmatic hernia is often a sporadic event with a low recurrence risk. However, underlying genetic etiologies, such as chromosome anomalies or single gene disorders, are identified in a small number of individuals. We describe two fetuses with a unique pattern of multiple congenital anomalies, including diaphragmatic hernia, short bowel and asplenia, born to first-cousin parents. Whole exome sequencing showed that both were homozygous for a missense variant, c.950A>C, predicting p...
September 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28881510/-clinical-phenotypes-of-hepatocyte-nuclear-factor-1-homeobox-b-associated-disease
#12
F Wang, Y Yao, H X Yang, C Y Shi, X X Zhang, H J Xiao, H W Zhang, B G Su, Y Q Zhang, J F Guo, J Ding
Objective: Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder. Method: Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28880692/clinical-outcome-of-pregnancies-with-the-prenatal-double-bubble-sign-a-five-year-experience-from-one-single-centre-in-mainland-china
#13
Yu Yang, Ping He, Dong-Zhi Li
The aim of this study was to describe the risk of aneuploidy, associated structural anomalies and clinical outcome in pregnancies with the prenatal double bubble sign. A retrospective study on ultrasound reports and pregnancy outcomes was performed in 71 foetuses with double bubble sign, who were examined at the Guangzhou Women and Children Medical Center during a five-year period. Forty-nine patients had the regular prenatal care since first trimester; of these, 20 had the sonographic sign before 24 weeks and the remaining 29 had the sonographic diagnosis after 24 weeks...
September 7, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28879597/prenatal-congenital-vertical-talus-rocker-bottom-foot-a-marker-for-multisystem-anomalies
#14
Eva I Rubio, Nimisha Mehta, Anna R Blask, Dorothy I Bulas
BACKGROUND: Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. OBJECTIVE: The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding...
September 6, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28879450/estimation-of-neonatal-outcome-artery-ph-value-according-to-ctg-interpretation-of-the-last-60%C3%A2-min-before-delivery-a-retrospective-study-can-the-outcome-ph-value-be-predicted
#15
S Kundu, E Kuehnle, C Schippert, J von Ehr, P Hillemanns, Ismini Staboulidou
PURPOSE: The aim of this study was to analyze whether the umbilical artery pH value can be estimated throughout CTG assessment 60 min prior to delivery and if the estimated umbilical artery pH value correlates with the actual one. This includes analysis of correlation between CTG trace classification and actual umbilical artery pH value. Intra-and interobserver agreement and the impact of professional experience on visual analysis of fetal heart rate tracing were evaluated. METHODS: This was a retrospective study...
September 6, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28876490/fetal-intra-abdominal-umbilical-vein-varix-a-retrospective-cohort-study-systematic-review-of-the-literature-and-meta-analysis
#16
REVIEW
E di Pasquo, M Kuleva, N O'Gorman, Y Ville, L J Salomon
OBJECTIVES: To investigate the outcome of fetuses with intra-abdominal umbilical vein varix (FIUVV) METHODS: A retrospective cohort study of cases of FIUVV was carried out. Information retrieved included gestational age and diameter of the umbilical varix at diagnosis, increasing in varix diameter, associated ultrasound and chromosomal anomalies and pregnancy outcome. A systematic review and a meta-analysis of the existing literature were performed to assess the incidence of chromosomal anomalies, Small for Gestational Age (SGA) infants and Intra-Uterine Fetal Demise (IUFD) and to pool relative risk (OR) estimates on the relationship between the presence of associated additional ultrasound anomalies and the occurrence of these outcomes...
September 6, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28869276/amniocentesis-and-chorionic-villus-sampling-for-prenatal-diagnosis
#17
REVIEW
Zarko Alfirevic, Kate Navaratnam, Faris Mujezinovic
BACKGROUND: During pregnancy, fetal cells suitable for genetic testing can be obtained from amniotic fluid by amniocentesis (AC), placental tissue by chorionic villus sampling (CVS), or fetal blood. A major disadvantage of second trimester amniocentesis is that the results are available relatively late in pregnancy (after 16 weeks' gestation). Earlier alternatives are chorionic villus sampling (CVS) and early amniocentesis, which can be performed in the first trimester of pregnancy. OBJECTIVES: The objective of this review was to compare the safety and accuracy of all types of AC (i...
September 4, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28864560/delayed-diagnosis-and-management-of-second-trimester-abdominal-pregnancy
#18
Katherine Tucker, Neha Rani Bhardwaj, Elizabeth Clark, Eve Espey
Second trimester abdominal ectopic pregnancies are rare and life threatening. Early diagnosis and treatment are paramount in reducing maternal morbidity and mortality. We describe an unusually late diagnosis of abdominal pregnancy despite multiple ultrasounds beginning in early pregnancy. A 28-year-old G2P1001 sought pregnancy termination at 22 weeks' gestation after fetal anomalies were noted on an 18-week ultrasound during evaluation for elevated maternal serum alfa-fetoprotein. Due to abortion restrictions in her home state, she travelled over 500 miles for abortion care...
September 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28859766/no-348-joint-sogc-ccmg-guideline-update-on-prenatal-screening-for-fetal-aneuploidy-fetal-anomalies-and-adverse-pregnancy-outcomes
#19
Francois Audibert, Isabelle De Bie, Jo-Ann Johnson, Nanette Okun, R Douglas Wilson, Christine Armour, David Chitayat, Raymond Kim
OBJECTIVE: To review the available prenatal screening options in light of the recent technical advances and to provide an update of previous guidelines in the field of prenatal screening. INTENDED USERS: Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal fetal medicine specialists, geneticists, and radiologists. TARGET POPULATION: All pregnant women receiving counselling and providing informed consent for prenatal screening...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28859338/human-brain-abnormalities-associated-with-prenatal-alcohol-exposure-and-fetal-alcohol-spectrum-disorder
#20
Jessica S Jarmasz, Duaa A Basalah, Albert E Chudley, Marc R Del Bigio
Fetal alcohol spectrum disorder (FASD) is a common neurodevelopmental problem, but neuropathologic descriptions are rare and focused on the extreme abnormalities. We conducted a retrospective survey (1980-2016) of autopsies on 174 individuals with prenatal alcohol exposure or an FASD diagnosis. Epidemiologic details and neuropathologic findings were categorized into 5 age groups. Alcohol exposure was difficult to quantify. When documented, almost all mothers smoked tobacco, many abused other substances, and prenatal care was poor or nonexistent...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
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