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Prenatal ultrasound

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https://www.readbyqxmd.com/read/28812464/congenital-diaphragmatic-hernia-with-liver-herniation-into-the-pericardial-sac-in-a-30-week-gestation-infant
#1
Nisha Patel, Christina Sollinger, Carl T D'Angio, Jeffrey M Vinocur, Kate G Ackerman, Philip J Katzman
Anterior diaphragmatic defects with pericardial involvement are extremely rare and diagnostically challenging entities encountered perinatally. While a majority of diaphragmatic defects occur in isolation, others are associated with multiple defects forming a complex of syndromes such as Pentalogy of Cantrell. Liver herniation into the pericardial sac poses a particular challenge and can mimic a pericardial tumor on prenatal ultrasound, yielding a different management course. The following case is an unusual presentation of a 30-week gestation female with an anterior midline diaphragmatic defect with liver herniation mimicking as a pericardial tumor, diagnosed at time of autopsy...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812458/congenital-cystic-lung-lesions-evolution-from-in-utero-detection-to-pathology-diagnosis-a-multidisciplinary-approach
#2
Steven Hardee, Lea Tuzovic, Cicero T Silva, Robert A Cowles, Joshua Copel, Raffaella A Morotti
Congenital cystic lung lesions are a group of rare pathologies that are usually diagnosed in the prenatal period. The majority of these lesions are diagnosed at pathology examination as congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestration (BPS). These lesions are typically managed by surgical intervention within the first year of life and have an excellent prognosis. We examined the evolution of imaging appearances from prenatal diagnosis to postnatal work-up of these lesions and correlate imaging and pathological findings...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28810634/misdiagnosis-of-a-cloacal-exstrophy-variant-as-urorectal-septum-malformation-in-a-fetus-by-ultrasound-a-case-report
#3
Yang-Qing Xu, Xiao-Hong Yang, Xin-Lin Chen, Xiu-Qiin Ji, Sheng Zhao
Cloacal exstrophy variants are comprised of a wide range of characteristics, of which there are four primary features, including omphalocele, bladder exstrophy, an imperforate anus and spina bifida. The existing literature regarding the differential diagnosis from alternative urinary diseases prenatally are limited. If the bladder is present, defects in the ventral wall may not be visualized with prenatal ultrasound in certain conditions, including oligohydramnios, and differential diagnosis from urorectal septum malformation sequence is a challenge...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28810181/screening-performance-for-callosal-agenesis-in-prenatal-life-single-center-study
#4
Hubert Huras, Magdalena Nowak, Izabela Herman-Sucharska, Malgorzata Radon-Pokracka, Agnieszka Nocun, Marcin Wiechec
OBJECTIVES: 1) To analyze screening performance of second trimester scan for ACC, 2) to evaluate the agreement between ultrasound and MRI and 3) to compare prenatal and postnatal diagnosis. METHODS: It was a prospective observational study. All patients with fetuses suspected of ACC were referred to prenatal MRI (pMRI). RESULTS: One subject was not confirmed by pMRI with the diagnosis of ACC. This case demonstrated partial ACC in neonatal MRI (nMRI)...
August 1, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28805624/prenatal-diagnosis-of-a-sporadic-apert-syndrome-by-3-d-ultrasound-and-3-d-helical-computerized-tomography
#5
Yan-Zhu Wang, Horng-Der Tsai, Charles Tsung-Che Hsieh
No abstract text is available yet for this article.
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805618/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-21q11-2-q21-1-and-a-literature-review
#6
Chih-Ping Chen, Ming Chen, Chia-Hsun Wu, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Shun-Ping Chang, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of 21q11.2-q21.1. CASE REPORT: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar [18]/46,XX [4]. The parental karyotypes were normal...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805617/molecular-cytogenetic-characterization-of-a-duplication-of-15q24-2-q26-2-associated-with-anencephaly-and-neural-tube-defect
#7
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chen-Chi Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect (NTD). CASE REPORT: A 35-year-old pregnant woman was found to have a fetus with anencephaly by prenatal ultrasound at 12 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with anencephaly. Cytogenetic analysis of the cultured placental tissues revealed a karyotype of 46,XX,dup(15) (q24...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#8
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#9
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28801976/implications-of-fetoplacental-mosaicism-on-cell-free-dna-testing-for-sex-chromosome-aneuploidies
#10
Francesca Romana Grati, Komal Bajaj, Valentina Zanatta, Francesca Malvestiti, Barbara Malvestiti, Livia Marcato, Beatrice Grimi, Federico Maggi, Giuseppe Simoni, Susan J Gross, Jose Ferreira
OBJECTIVE: The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the i) false positive/negative rates (FPR/FNR) of cfDNA testing consequent to feto-placental mosaicism for any sex chromosome anomaly (SCA) ii) positive (PPV) and negative predictive values (NPV) of a high- and low-risk cfDNA result for any SCA. METHOD: Retrospective analysis of 67030 chorionic villus sampling (CVS) karyotypes, including feto-placental mosaicism cases...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28795424/going-with-the-flow-an-aid-in-detecting-and-differentiating-bronchopulmonary-sequestrations-and-hybrid-lesions
#11
Edward R Oliver, Suzanne E DeBari, Mariann M Giannone, Jennifer E Pogoriler, Ann M Johnson, Steven C Horii, Juliana S Gebb, Lori J Howell, N Scott Adzick, Beverly G Coleman
OBJECTIVES: To assess the ability of prenatal ultrasound (US) in identifying systemic feeding arteries in bronchopulmonary sequestrations and hybrid lesions and report the ability of US in classifying bronchopulmonary sequestrations as intralobar or extralobar. METHODS: Institutional Review Board-approved radiology and clinical database searches from 2008 to 2015 were performed for prenatal lung lesions with final diagnoses of bronchopulmonary sequestrations or hybrid lesions...
August 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28793177/infants-with-prenatally-diagnosed-kidney-anomalies-have-an-increased-risk-of-urinary-tract-infections
#12
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/28791262/clinical-characteristics-of-pregnancies-complicated-by-congenital-myotonic-dystrophy
#13
Cheonga Yee, Suk-Joo Choi, Soo-Young Oh, Chang-Seok Ki, Cheong-Rae Roh, Jong-Hwa Kim
OBJECTIVE: Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate the clinical characteristics of pregnancies complicated by congenital myotonic dystrophy in our institution. METHODS: We have reviewed 11 paired cases of neonates diagnosed with congenital myotonic dystrophy and their mothers between July 2004 and May 2014, with clinical features including maternal history of infertility, prenatal ultrasonographic findings, and neonatal outcomes...
July 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28790549/genetic-counseling-and-prenatal-diagnosis-of-triploidy-during-the-second-trimester-of-pregnancy
#14
Milenko Kolarski, Begzudin Ahmetovic, Maja Beres, Radomir Topic, Vedran Nikic, Ivana Kavecan, Semin Sabic
INTRODUCTION: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks', 1 in 30,000 at 16 weeks', and 1 in 250,000 at 20 weeks' gestation. CASE REPORT: We present a case of second-trimester triploidy diagnosed prenataly at our center...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28780216/neuroimaging-findings-of-congenital-toxoplasmosis-cytomegalovirus-and-zika-virus-infections-a-comparison-of-three-cases
#15
Heron Werner, Pedro Daltro, Tatiana Fazecas, Mohammad Zare Mehrjardi, Edward Araujo Júnior
OBJECTIVE: Toxoplasmosis, cytomegalovirus (CMV), and Zika virus (ZIKV) are among the common infectious agents that may infect the fetuses vertically. Clinical presentations of these congenital infections overlap significantly, and it is usually impossible to determine the causative agent clinically. The objective was the comparison of neuroimaging findings in three fetuses who underwent intrauterine infection by toxoplasmosis, CMV, and ZIKV. METHODS: Three confirmed cases of congenital toxoplasmosis, CMV, and ZIKV infections were included in the study over 7 months prospectively...
August 2, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28768058/prenatal-influence-of-congenital-heart-defects-on-trajectories-of-cortical-folding-of-the-fetal-brain-using-three-dimensional-ultrasound
#16
Irene V Koning, Anne W van Graafeiland, Irene A L Groenenberg, Sofie C Husen, Attie T J I Go, Jeroen Dudink, Sten P Willemsen, Jerome M J Cornette, Régine P M Steegers-Theunissen
OBJECTIVE: To investigate the prenatal influence of congenital heart defects (CHD) on trajectories of fetal cortical folding using three-dimensional ultrasound (3D-US). METHOD: We included 20 CHD fetuses and 193 controls for studying the fetal brain at 22, 26 and 32 weeks gestational age (GA). The Sylvian, insula and parieto-occipital fissure (POF) depths were measured using 3D-US and reliability was evaluated. Doppler indices of the umbilical artery and middle cerebral artery were measured to calculate the cerebro-placental ratio (CPR)...
August 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28764564/neonatal-renal-cystic-diseases
#17
Anshika Khare, Vinod Krishnappa, Deepak Kumar, Rupesh Raina
PURPOSE: Neonatal renal cystic diseases have a great impact on the morbidity and mortality of the affected neonates and infants. A good insight into the pathophysiology, diagnosis and treatment options of various neonatal renal cystic diseases aid in early diagnosis and intervention, thereby preventing complications. METHODS: PubMed search was done for articles on "neonatal renal cystic diseases" and relevant publications including reviews were considered for our article...
August 2, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28754280/-prenatal-diagnosis-and-management-of-two-cases-of-bilateral-ureteroceles-on-simplex-ureters
#18
H Ben Hamouda, H Bouchahda, S Ghanmi, S Wannes, H Soua, H Hamza, M Belghith, A Nouri, M T Sfar
Ureterocele is a rare urologic disorder characterized by pseudocystic dilatation of the terminal submucosal ureter. Most cases of ureteroceles are associated with complete ureteral duplicity and ureterohydronephrosis, whereas ureteroceles on simplex ureters are rarer. The authors report two cases of bilateral ureteroceles on simplex ureters diagnosed prenatally at 30 and 32weeks gestation. Fetal ultrasound had revealed bilateral ureterohydronephrosis. The delivery was made at term and renal function was normal at birth...
July 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28753736/can-quantity-of-amniotic-fluid-reliably-predict-postnatal-renal-function-in-boys-with-posterior-urethral-valves-a-decision-curve-analysis
#19
Luke Harper, Alice Waubant, Julien Vignes, Sara Amat, Eric Dobremez, Yan Lefevre, Cyril Ferdynus
OBJECTIVE: Prenatal management of male fetuses with suspected posterior urethral valves depends on reliable markers for postnatal long-term renal function. Whether ultrasound parameters, including the presence or absence of oligohydramnios, are reliable remains the subject of debate. We decided to evaluate the reliability of quantity of amniotic fluid to predict postnatal renal function using decision curve analysis (DCA), a method for evaluating the clinical utility of a diagnostic test...
July 28, 2017: Prenatal Diagnosis
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
#20
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
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