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Prenatal Diagnosis

Michael Brusilov, Igal Wolman, Eran Ashwal, Gustavo Malinger, Roee Birnbaum
OBJECTIVE: to describe our two dimensional (2D) ultrasound approach to visualize the fetal secondary palate, and plot its growth curve, and to describe demonstrate its clinical implementation. METHODS: this is a two parts retrospective study. First, we measured the antero-posterior length of the bony secondary palate, from the soft to hard palate interface (SHPI) line to the alveolar ridge, blindly by two operators during routine scans of low risk fetuses, and plot a longitudinal growth curve...
November 7, 2018: Prenatal Diagnosis
Peter Benn, Sharon E Plon, Diana W Bianchi
No abstract text is available yet for this article.
November 6, 2018: Prenatal Diagnosis
Johanna Hammersen, Sigrun Wohlfart, Tamme W Goecke, Angela Köninger, Holger Stepan, Ralph Gallinat, Susan Morris, Katharina Bücher, Angus Clarke, Stephanie Wünsche, Matthias W Beckmann, Holm Schneider, Florian Faschingbauer
OBJECTIVE: In X-linked hypohidrotic ectodermal dysplasia (XLHED), dysfunction of ectodysplasin A1 (EDA1) due to EDA mutations results in malformation of hair, teeth, and sweat glands. Hypohidrosis which can cause life-threatening hyperthermia is amenable to intrauterine therapy with recombinant EDA1. This study aimed at evaluating tooth germ sonography as a non-invasive means to identify affected fetuses in pregnant carrier women. METHODS: Sonography, performed at 10 study sites between gestational weeks 18 and 28, led to the diagnosis of XLHED if fewer than six tooth germs were detected in mandible or maxilla...
November 5, 2018: Prenatal Diagnosis
Adalina Sacco, Lynn Simpson, Jan Deprest, Anna L David
AIM: To establish the provision of fetal surgery for myelomeningocele (MMC) worldwide. METHODS: Through the International Society for Prenatal Diagnosis (ISPD) Fetal Therapy Special Interest Group and the North American Fetal Therapy Network (NAFTNet), fetal therapy centres were surveyed (September 2017-June 2018) regarding availability of fetal MMC surgical repair, patient inclusion criteria, repair techniques, number of cases and outcome reporting. Responses were summarised on an interactive map on the ISPD website...
October 30, 2018: Prenatal Diagnosis
Nicholas J Wald, Jonathan Bestwick, Wayne Huttly, Jonathan Aldis, Antoni Borrell, Sandy Goodburn, Ian Mills
OBJECTIVE: To determine whether assumptions used in prenatal screening for Down syndrome in twin pregnancies are valid, and derive estimates of risk and screening performance in twin pregnancies using observed data. METHODS: Data were collected on nuchal translucency, chorionicity, pregnancy associated plasma protein-A (PAPP-A) and free ß human chorionic gonadotrophin (free ß-hCG) from 61 twin pregnancies with Down syndrome and 7,302 unaffected twin pregnancies...
October 26, 2018: Prenatal Diagnosis
S J Eschbach, A D J Ten Harkel, J M Middeldorp, F J C M Klumper, D Oepkes, E Lopriore, M C Haak
OBJECTIVE: The pathophysiology of right ventricular outflow tract obstruction (RVOTO) in twin-to-twin transfusion syndrome (TTTS) recipients is incompletely understood. We aimed to investigate the development and spectrum of RVOTO in TTTS recipients. METHODS: A prospective longitudinal cohort study was conducted between 2015 and 2017. Echocardiographic assessment was performed in recipients from TTTS diagnosis until the neonatal period. RESULTS: Prenatal RVOTO, defined as abnormal flow velocity waveforms across the pulmonary valve (PV), was diagnosed in 12...
October 26, 2018: Prenatal Diagnosis
Liesbeth Vossaert, Qun Wang, Roseen Salman, Xinming Zhuo, Chunjing Qu, David Henke, Ron Seubert, Jennifer Chow, Lance U'ren, Brennan Enright, Jackie Stilwell, Eric Kaldjian, Yaping Yang, Chad Shaw, Brynn Levy, Ronald Wapner, Amy Breman, Ignatia Van den Veyver, Arthur Beaudet
OBJECTIVE: To gather additional data on the ability to detect subchromosomal abnormalities of various sizes in single fetal cells isolated from maternal blood, using low coverage shotgun next-generation sequencing for cell-based noninvasive prenatal testing (NIPT). METHOD: Fetal trophoblasts were recovered from ~ 30 mL of maternal blood using maternal white blood cell depletion, density-based cell separation, immunofluorescence staining, and high-resolution scanning...
October 25, 2018: Prenatal Diagnosis
Han-Shin Lee, Jan E Dickinson, Jason Tan, Wendy Nembhard, Carol Bower
OBJECTIVE: To review temporal changes in perinatal management and one-year survival outcomes of cases of congenital diaphragmatic hernia (CDH) from 1996-2015 in Western Australia (WA). METHOD: Retrospective study of all cases of CDH in WA from 1996 to 2015, identified from 5 independent databases within the WA health network. Detailed information pertaining to pregnancy and survival outcomes were obtained from review of maternal and infant medical records. RESULTS: There were 215 cases of CDH with 164 diagnosed prenatally...
October 22, 2018: Prenatal Diagnosis
Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Winnie Courtens, Anne De Leener, Marjan De Rademaeker, Julie Désir, Anne Destree, Koenraad Devriendt, Annelies Dheedene, Annelies Fieuw, Erik Fransen, Jean-Stéphane Gatot, Philip Holmgren, Mauricette Jamar, Sandra Janssens, Kathelijn Keymolen, Damien Lederer, Björn Menten, Marije Meuwissen, Benoit Parmentier, Bruno Pichon, Sonia Rombout, Yves Sznajer, Ann Van Den Bogaert, Kris Van Den Bogaert, Olivier Vanakker, Joris Vermeesch, Katrien Janssens
OBJECTIVE: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs...
October 18, 2018: Prenatal Diagnosis
Vidya Rajagopalan, Jodie K Votava-Smith, Xiaowei Zhuang, Jessica Brian, Lila Marshall, Ashok Panigrahy, Lisa Paquette
OBJECTIVE: Anomalous neurological development associated with congenital heart disease (CHD) has been reported as early as third trimester of fetal development. While several studies have characterized variations in CHD neurodevelopmental outcomes in early childhood, these reports are often confounded by postnatal factors such as surgical outcome. Recent studies have focused on the comparing neurological variations between fetuses with CHD and normal controls. In this work, we present a comparison of in-utero variations in brain development between fetuses with different types of CHD, by analyzing them under categories of single ventricle versus biventricular cardiac anatomy...
October 17, 2018: Prenatal Diagnosis
Jing Lu, Daljit Singh Sahota, Liona C Poon, Yuen Ha Ting, Yvonne Kwun Yue Cheng, Yue Wang, Tak Yeung Leung
OBJECTIVE: To investigate the intraobserver and interobserver reproducibility of a novel sonographic parameter named facial maxillary angle (FMA) and to establish nomograms of FMA, inferior facial angle (IFA), frontal nasal-mental angle (FNMA), maxilla-nasion-mandible angle (MNMA), and fetal profile line (FPL) in Chinese fetuses. METHODS: In this prospective cross-sectional study, FMA, IFA, FNMA, MNMA, and FPL were measured in 592 normal fetuses between 16 and 36 gestational weeks...
October 17, 2018: Prenatal Diagnosis
S Brun, P Pennamen, A Mattuizzi, F Coatleven, M L Vuillaume, D Lacombe, B Arveiler, J Toutain, C Rooryck
OBJECTIVE: The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using Chromosomal Microarray Analysis (CMA) for fetuses presenting with isolated or associated Intrauterine Growth Restriction (IUGR). METHOD: We retrospectively included all fetuses with IUGR referred for prenatal testing and studied by rapid fluorescence in situ hybridization (FISH), karyotype and CMA. RESULTS: Among the 162 IUGR fetuses (78 associated and 84 isolated IUGR) included, 15 had an abnormal FISH result: 10 associated and five isolated fetal IUGRs...
October 17, 2018: Prenatal Diagnosis
Sandra Grau Madsen, Niels Uldbjerg, Lone Sunde, Naja Becher
OBJECTIVE: To evaluate the risk of adverse pregnancy outcome when trisomy 16 confined to the placenta is diagnosed and to identify possible prognostic markers for adverse outcomes in these pregnancies. METHOD: Registered cases (n = 49) of trisomy 16 diagnosed prenatally in Denmark from 1990-2013 were included. RESULTS: Twenty-five of the pregnancies intended to be continued had CPM16. Adverse pregnancy outcome was seen in 17 CPM16-pregnancies (68 %) ranging from mild SGA to fetal malformations and intrauterine demise...
October 17, 2018: Prenatal Diagnosis
Stefania Zampatti, Julia Mela, Cristina Peconi, Giulia Pagliaroli, Stefania Carboni, Giuseppe Barrano, Ilaria Zito, Raffaella Cascella, Gianluca Marella, Filippo Milano, Mauro Arcangeli, Carlo Caltagirone, Antonio Novelli, Emiliano Giardina
OBJECTIVE: The Duchenne/Becker muscular dystrophy carrier screening includes the evaluation of mutations in DMD gene and the most widely used analysis is the MLPA for the DMD deletions/duplications detection. The high frequency of de novo mutations permits to estimate a risk up to 20% of mosaicisms for mothers of sporadic DMD children. The purpose of this study is to evaluate alternative analytical strategy for the detection of mosaics carrier women, in order to improve the recurrence risk estimation...
October 10, 2018: Prenatal Diagnosis
Sasha Skinner, Kelly Crossley, Ben Amberg, Aidan Kashyap, Stuart Hooper, Jan A Deprest, Ryan Hodges, Philip DeKoninck
OBJECTIVE: We aim to assess the effect of partial amniotic carbon dioxide insufflation (PACI) at increasing pressures on fetal acid-base, fetal-placental perfusion and fetal membrane morphology in an ovine model. METHOD: Pregnant ewes and fetuses were instrumented under isoflurane anesthesia at 105 days gestation (term 145d) to monitor utero-placental blood flow, fetal and maternal blood pressure, heart rate and blood gas status. One group (n=6) were exposed to PACI (unheated dry CO2 ), involving 5mmHg stepwise increases in insufflation pressure (5 to 25mmHg), for 80min followed by 20min of desufflation...
October 4, 2018: Prenatal Diagnosis
Teresa Chapman, Sarah J Menashe, Megan Zare, Adam M Alessio, Gisele E Ishak
OBJECTIVE: Suspected Dandy-Walker continuum anomalies constitute a significant percentage of prenatal cases evaluated by magnetic resonance imaging (MRI). To unify the description of posterior fossa malformations, we sought to establish objective measurements for the posterior fossa in normal fetuses between 18 and 37 weeks gestation. METHODS: T2-weighted images of normal fetal brains in sagittal projection were obtained from fetal magnetic resonance (MR) studies of normal brains performed from 2009 to 2017...
October 2, 2018: Prenatal Diagnosis
Marian Kacerovsky, Barbora Vlkova, Ivana Musilova, Ctirad Andrys, Lenka Pliskova, Helena Zemlickova, Jaroslav Stranik, Petr Halada, Bo Jacobsson, Peter Celec
INTRODUCTION: We evaluated the levels of cell-free nuclear DNA (nDNA) and cell-free mitochondrial DNA (mtDNA) in the amniotic fluid supernatant from pregnancies complicated by preterm prelabor rupture of membranes (PPROM) based on evidence of microbial invasion of the amniotic cavity (MIAC) and/or intra-amniotic inflammation (IAI). MATERIAL AND METHODS: A total of 155 women with PPROM were included in this study. Amniotic fluid samples were obtained by transabdominal amniocentesis...
October 1, 2018: Prenatal Diagnosis
Allanah Howard-Bath, Alice Poulton, Jane Halliday, Lisa Hui
OBJECTIVE: To assess the impact of non-invasive prenatal testing (NIPT) on trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) in a population with >73,000 annual births. METHOD: Retrospective population-based cohort study from 1986-2016 of all women undergoing prenatal diagnosis before 25 weeks gestation in the Australian state of Victoria. Statistical significance was tested using the chi-square test for trend or proportions. RESULTS: There were 2,043,345 births and 842 SCA diagnoses from 1986-2016...
September 25, 2018: Prenatal Diagnosis
Sasha Skinner, Philip DeKoninck, Kelly Crossley, Benjamin Amberg, Jan Deprest, Stuart Hooper, Ryan Hodges
Partial amniotic carbon dioxide insufflation (PACI) involves insufflating the amniotic sac with carbon dioxide (CO2 ) and, in some cases, draining some of the amniotic fluid. The creation of a gaseous intra-amniotic compartment improves visualization, even in the presence of limited bleeding, and creates the work space required for complex fetoscopic procedures. Clinically, PACI is mostly used to perform fetoscopic myelomeningocele (MMC) repair, enabling a minimally invasive alternative to open fetal surgery...
September 20, 2018: Prenatal Diagnosis
Beth M Kline-Fath, Monica S Arroyo, Maria A Calvo-Garcia, Paul S Horn, Cameron Thomas
BACKGROUND AND PURPOSE: To examine prenatal MRI and postnatal imaging in fetuses with congenital aqueductal stenosis (CAS) to determine the frequency of association of rhombencephalosynapsis (RES) and how it may affect neonatal intensive care unit (NICU) course. MATERIALS AND METHODS: A single center IRB-approved retrospective study of children with CAS was performed. Prenatal MRI, postnatal images, and clinical data were reviewed. Statistical analysis was performed with SAS statistical software package version 9...
September 19, 2018: Prenatal Diagnosis
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