keyword
MENU ▼
Read by QxMD icon Read
search

Prenatal ultrasound

keyword
https://www.readbyqxmd.com/read/28420516/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of%C3%A2-low-level-mosaic-trisomy-12-at-amniocentesis-associated-with%C3%A2-a%C3%A2-favorable-pregnancy-outcome
#1
Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of low-level mosaic trisomy 12. CASE REPORT: A 40-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+12[5]/46,XX[24] consistent with 17.2% (5/29) mosaicism for trisomy 12. Repeat amniocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XX,+12[4]/46,XX[6] consistent with 40% (4/10) mosaicism for trisomy 12. Interphase fluorescence in situ hybridization (FISH) on 112 uncultured amniocytes detected 23 cells with trisomy 12 consistent with 20...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28420511/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-concomitant-familial-small-supernumerary-marker-chromosome-derived-from-chromosome-4q-4q11-1-q13-2-and-5q13-2-microdeletion-with-no-apparent-phenotypic-abnormality
#2
Chih-Ping Chen, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Chien-Wen Yang, Chen-Chi Lee, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome 4 [sSMC(4)] derived from 4q11.1-q12 and q13.2, and 5q13.2 microdeletion with no apparent phenotypic abnormality. MATERIALS AND METHODS: A 32-year-old woman underwent amniocentesis at 21 weeks of gestation because of absent nasal bone on fetal ultrasound. Amniocentesis revealed a karyotype of 47,XX,+mar[13]/46,XX[3]. Array comparative genomic hybridization analysis on the cultured amniocytes revealed a 2...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28414187/metatropic-dysplasia-in-third-trimester-of-pregnancy-and-a-novel-causative-variant-in-the-trpv4-gene
#3
Sara Bargiacchi, Matteo Della Monica, Roberto Biagiotti, Elena Andreucci, Serena Ciabattoni, Paolo Poggi, Marco Di Maurizio, Claudio Defilippi, Ettore Cariati, Sabrina Giglio
Prenatal diagnosis of skeletal dysplasias is particularly difficult for many reasons and differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomonic for a specific disorder. The diagnosis is often made just after birth or exitus. The prenatal diagnosis of osteochondrodysplasias is based predominantly upon fetal ultrasound findings and it focuses substantially on the possible lethality of the disorder, without always being able to find a specific name for the disorder...
April 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28413694/first-neonatal-demise-with-travel-associated-zika-virus-infection-in-the-united-states-of-america
#4
Nikolaos Zacharias, Janice Whitty, Sarah Noblin, Sophia Tsakiri, Jose Garcia, Michael Covinsky, Meenakshi Bhattacharjee, David Saulino, Nina Tatevian, Sean Blackwell
Zika virus is increasingly recognized as a fetal pathogen worldwide. We describe the first case of neonatal demise with travel-associated Zika virus infection in the United States of America, including a novel prenatal ultrasound finding. A young Latina presented to our health care system in Southeast Texas for prenatal care at 23 weeks of gestation. Fetal Dandy-Walker malformation, asymmetric cerebral ventriculomegaly, single umbilical artery, hypoechoic fetal knee, dorsal foot edema, and mild polyhydramnios were noted upon initial screening prenatal sonography at 26 weeks...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28412848/proteomic-profile-of-serum-of-pregnant-women-carring-a-fetus-with-down-syndrome-using-nano-uplc-q-tof-ms-ms-technology
#5
Graciela Arelí López-Uriarte, Carlos Horacio Burciaga Flores, Víctor Manuel Torres de la Cruz, María Magdalena Medina Aguado, Viviana Maricela Gómez Puente, Liliana Nayeli Romero Gutiérrez, Laura Elia Martínez de Villarreal
INTRODUCTION: Prenatal diagnosis of Down syndrome (DS) is based on the calculated risk of maternal age, biochemical and ultrasonographic markers and recently by cfDNA. Differences in proteomic profiles may give an opportunity to find new biomarkers. OBJECTIVE: Characterize proteome of serum of mothers carrying DS fetus. MATERIAL AND METHODS: Blood serum samples of three groups of women were obtained, a) 10 non-pregnant, b) 10 pregnant with healthy fetus by ultrasound evaluation, c) 9 pregnant with DS fetus; Sample preparation was as follow: Albumin/IgG depletion, desalting, and trypsin digestion; the process was performed in nanoUPLC MS/MS...
April 16, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28412669/measurement-of-frontal-lobe-volume-and-thalamic-volume-in-fetuses-with-congenital-heart-disease-at-different-gestational-weeks-using-three-dimensional-ultra-sonography-and-its-clinical-value
#6
Zhu Li-Fei, Liu Hong-Xiong, H E Ying
Our study aimed to investigate the measurement of frontal lobe volume and thalamic volume in fetuses with congenital heart disease (CHD) at different gestational weeks using three dimensional (3-D) ultrasonography and its clinical value. Then, 238 pregnant women who received obstetric ultrasonography in ultrasound department of Internal Medicine of our hospital were enrolled between March 2013 to April 2014. In this study, 85 fetuses were diagnosed to develop CHD by prenatal fetal echocardiography, and the other 153 fetuses were normal...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28409863/the-influence-of-snp-based-chromosomal-microarray-and-nipt-on-the-diagnostic-yield-in-10-000-fetuses-with-and-without-fetal-ultrasound-anomalies
#7
Malgorzata I Srebniak, Maarten F C M Knapen, Marike Polak, Marieke Joosten, Karin E M Diderich, Lutgarde C P Govaerts, Marjan Boter, Joan N R Kromosoeto, Daniella Aloysia C M van Hassel, Gido Huijbregts, Wilfred F J van Ijcken, Roger Heydanus, Anneke Dijkman, Toon Toolenaar, Femke A T de Vries, Jeroen Knijnenburg, Attie T J I Go, Robert-Jan H Galjaard, Diane Van Opstal
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and non-invasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy...
April 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28407631/a-longitudinal-study-on-fetal-weight-estimation-at-third-trimester-of-pregnancy-comparison-of-magnetic-resonance-imaging-and-2-d-ultrasound-predictions
#8
Caroline Kadji, Mieke M Cannie, Morgane Van Wettere, Elisa Bevilacqua, Vivien Dütemeyer, Brigitte Strizek, Joe Khalifé, Xin Kang, Jacques C Jani
OBJECTIVE: To prospectively compare magnetic resonance (MR) estimation of fetal weight (MR-EFW) performed at third trimester with ultrasound (US) estimation of fetal weight (US-EFW) and actual birth weight, and to evaluate factors influencing fetal growth rate near term. METHODS: US-EFW and MR-EFW were calculated at a median of 33.0 and 37.7 weeks of gestation in 37 fetuses and plotted on curve centiles to predict birth weights at 39.3 weeks of gestation. The median absolute relative errors for predicted US-EFW and MR-EFW were calculated...
April 14, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28405085/giant-cystic-umbilical-cord-associated-with-patent-urachus-and-intrauterine-fetal-demise
#9
Kira Brooks, Joseph Guileyardo, Don Le, Jesy Joykutty
True cystic structures within the umbilical cord are rare, and when they persist into the second and third trimester, they are often associated with an abnormal karyotype or other developmental abnormalities. Clinically significant pseudocysts resulting from massive edema of the umbilical cord have been associated with a congenitally patent urachus. We present a case of intrauterine fetal demise at 28 weeks' gestation in which cystic dilatation of the umbilical cord was diagnosed prenatally by ultrasound imaging...
April 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28403928/-prenatal-diagnosis-of-neural-tube-defects-correlation-between-prenatal-and-postnatal-data
#10
L Matuszewski, E Perdriolle-Galet, I Clerc-Urmès, P Bach-Segura, O Klein, J P Masutti, O Morel
OBJECTIVES: Neural tube defects (NTD) are congenital anomalies that can cause significant neurological long-term disabilities. Theses malformations are accessible to prenatal diagnosis and quite recently, to in utero repair for some myelomeningoceles. The aim of this study was to analyse the correlation between prenatal and postnatal examinations. MATERIALS AND METHODS: A descriptive retrospective monocentric study has been conducted between January 2004 and December 2014 in a tertiary care maternity...
March 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28403926/prenatal-microarray-comparative-genomic-hybridization-experience-from-the-two-first-years-of-activity-at-the-lyon-university-hospital
#11
L Pons, M Till, E Alix, C Abel, D Boggio, A Bordes, J Caloone, F C Raskin, N Chatron, M-P Cordier, A Fichez, A Labalme, C Lajeunesse, É Liaras, M Massoud, J Miribel, E Ollagnon, C Schluth-Bolard, A Vichier-Cerf, P Edery, J Attia, C Huissoud, R C Rudigoz, J Massardier, P Gaucherand, D Sanlaville
OBJECTIVES: This study aims to describe how microarray comparative genomic hybridization (aCGH) has shifted to become a prenatal diagnosis tool at the Lyon university-hospital. MATERIALS AND METHODS: This retrospective study included all patients who were referred in the 3 pluridisciplinary centers for prenatal diagnosis of the Lyon university-hospital and who received a prenatal aCGH between June 2013 and June 2015. aCGH was systematically performed in parallel with a karyotype, using the PréCytoNEM array design...
March 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28403187/effectiveness-of-advertising-availability-of-prenatal-ultrasound-on-uptake-of-antenatal-care-in-rural-uganda-a-cluster-randomized-trial
#12
RANDOMIZED CONTROLLED TRIAL
William Cherniak, Geoffrey Anguyo, Christopher Meaney, Ling Yuan Kong, Isabelle Malhame, Romina Pace, Sumeet Sodhi, Michael Silverman
In rural Uganda pregnant women often lack access to health services, do not attend antenatal care, and tend to utilize traditional healers/birth attendants. We hypothesized that receiving a message advertising that "you will be able to see your baby by ultrasound" would motivate rural Ugandan women who otherwise might use a traditional birth attendant to attend antenatal care, and that those women would subsequently be more satisfied with care. A cluster randomized trial was conducted across eight rural sub-counties in southwestern Uganda...
2017: PloS One
https://www.readbyqxmd.com/read/28402981/prenatal-nonvisualization-of-the-gallbladder-a-diagnostic-and-prognostic-dilemma
#13
Aina Ruiz, Ana Robles, Francisca Salva, Ana Filgueira, Cristina Díaz, Miquel Juan, Albert Tubau
INTRODUCTION: Nonvisualization of the fetal gallbladder has been associated with benign conditions such as isolated gallbladder agenesis or severe diseases such as biliary atresia (BA). Recently, gamma-glutamyl transpeptidase (GGTP) fetal blood levels were reported as useful after 22 weeks. OBJECTIVE: To determine the contribution of fetal blood GGTP levels after 22 weeks, based on 2 cases. Case 1: 20+4-week secundipara, with subcutaneous edema and pleural effusion...
April 13, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28400306/-can-3d-power-doppler-indices-improve-the-prenatal-diagnosis-of-a-potentially-morbidly-adherent-placenta-in-patients-with-placenta-previa
#14
Ziad A Haidar, Ramesha Papanna, Baha M Sibai, Nina Tatevian, Oscar A Viteri, Patricia C Vowels, Sean C Blackwell, Kenneth J Moise
BACKGROUND: Traditionally, 2D ultrasound parameters have been used for the diagnosis of a suspected morbidly adherent placenta (MAP) previa. More objective techniques have not been well studied yet. OBJECTIVE: To determine the ability of prenatal 3D power Doppler analysis of flow and vascular indices to predict the morbidly adherent placenta (MAP) objectively. METHODS: Prospective cohort study was performed in women between 28-32 weeks with known placenta previa...
April 8, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28399525/prognosis-of-isolated-first-trimester-fetal-megacystis-with-spontaneous-resolution
#15
Noémie Girard, Benjamin Viaris de Lesegno, Paul Bussière, Catherine Egoroff, Anne-Gaël Cordier, Alexandra Benachi
OBJECTIVE: Fetal megacystis has a poor prognosis. During the first trimester, it is frequently associated with chromosomal abnormalities or multiple malformations, but can also be isolated and resolve spontaneously. In this study, our main objective was to determine the fetal and pediatric prognosis in this particular situation. METHODS: This was a retrospective multicenter study. We describe the cases referred to our fetal medicine centers and also cases previously reported in the international literature...
April 12, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28397721/ultrasonographic-characteristics-of-cortical-sulcus-development-in-the-human-fetus-between-18-and-41-weeks-of-gestation
#16
Xi Chen, Sheng-Li Li, Guo-Yang Luo, Errol R Norwitz, Shu-Yuan Ouyang, Hua-Xuan Wen, Ying Yuan, Xiao-Xian Tian, Jia-Min He
BACKGROUND: Fetal brain development is a complicated process that continues throughout pregnancy. Fetal sulcus development has typical morphological features. Assessment of fetal sulcus development to understand the cortical maturation and development by prenatal ultrasound has become widespread. This study aimed to explore a reliable method to assess cortical sulcus and to describe the normal sonographic features of cortical sulcus development in the human fetus between 18 and 41 weeks of gestation...
April 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28397548/pre-natal-diagnosis-of-thalassaemia-in-sri-lanka-a-ten-year-review
#17
Kalinga Khemal Nanayakkara, Undugodage Ganganath Rodrigo, Kuda Liyanage Nandika Perera, Chinthani Deepthi Nanayakkara
Thalassaemia is the commonest monogenic disease in Sri Lanka, affecting over 3500 children and half-a-million thalassaemia carriers. This is a review of 82 amniocenteses performed from 2006 to 2016, in the largest prenatal diagnoses study for thalassaemia carried out in Sri Lanka. Amniocenteses were performed between 11 and 12 weeks of ultrasonically confirmed gestation, on mothers with previous thalassaemia major children pregnant for the second time and nulliparous thalassaemia trait women married to trait partners...
April 11, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28397377/yield-of-a-12-13-week-scan-for-the-early-diagnosis-of-fetal-congenital-anomalies-in-the-cell-free-dna-era
#18
M J A Kenkhuis, M Bakker, F Bardi, F Fontanella, M K Bakker, H Fleurke-Rozema, C M Bilardo
OBJECTIVE: Aim of the study was to assess the percentage and type of anomalies (structural and chromosomal) that can be detected at an early scan performed at 12-13 weeks' gestation, as opposed to the present screening policy (20 -week scan). METHODS: Sonographers accredited for the nuchal translucency (NT) measurement were asked, after additional training, to participate into the study. The early scans were performed according to a protocol, in six ultrasound practices and 2 referral centers in the Northeast of the Netherlands...
April 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28397227/-prenatal-diagnosis-and-follow-up-of-a-case-with-lowe-syndrome-caused-by-interstitial-deletion-of-xq25-26
#19
Xiangyu Zhu, Jie Li, Tong Ru, Ruifang Zhu, Chenyan Dai, Wanjun Wang, Yali Hu
OBJECTIVE: To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing. METHODS: Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397213/-analysis-of-genome-wide-copy-number-variations-among-fetuses-with-abnormalities-detected-by-prenatal-ultrasouography
#20
Ke Wu, Shaohua Tang, Chong Chen, Huanzheng Li, Lili Zhou, Jianxin Lyu
OBJECTIVE: To explore the genetic etiology of fetal abnormalities detected by prenatal ultrasound through single nucleotide polymorphism (SNP array) analysis. METHODS: Two hundred and eight fetuses were tested with SNP array and conventional karyotyping. Complex copy number variations (CNVs) were verified with fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and quantitative fluorescence polymerase chain reaction (QF-PCR)...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
keyword
keyword
19100
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"