Results 1 to 10 of about 2,182,083 (430)

Neonatal hearing screening [PDF]

Early Human Development, 1996
Severe congenital hearing impairment is an important handicap affecting 0.1% of live-born infants and 1%-2% of graduates of Neonatal Intensive Care Units. The prognosis for intellectual, emotional, language and speech development in the hearing-impaired child is improved when the diagnosis is made early and intervention is begun before the age of 6 ...
H.L.M. van Straaten, Anne Marie Oudesluys-Murphy, R. Bholasingh, G.A. van Zanten   +3 more
openaire   +4 more sources

Congenital Cytomegalovirus Infection: A Narrative Review of the Issues in Screening and Management From a Panel of European Experts. [PDF]

, 2020
Maternal primary and non-primary cytomegalovirus (CMV) infection during pregnancy can result in in utero transmission to the developing fetus. Congenital CMV (cCMV) can result in significant morbidity, mortality or long-term sequelae, including ...
Blázquez-Gamero, D, Delforge, M-L, Foulon, I, Lazzarotto, T, Leruez-Ville, M, Luck, S, Modrow, S   +6 more
core   +1 more source

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source

Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]

, 2018
: Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni, ARTIOLA, CRISTIANA, CARDUCCI, Carla, CARDUCCI, Claudia, D'AMICI, SIRIO, GIOVANNIELLO, TERESA, Manuela Tolve, PASQUALI, Amelia, PIZZUTI, Antonio, Vincenzo Leuzzi   +9 more
core   +1 more source

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources

Congenitally deaf children's care trajectories in the context of universal neonatal hearing screening: a qualitative study of the parental experiences [PDF]

, 2011
The objective of this study is to examine the early care trajectories of congenitally deaf children from a parental perspective, starting with universal neonatal hearing screenings.
Desnerck, Greetje, Hardonck, Stefan, Loots, Gerrit, Louckx, Fred, Sigurjonsdottir, Hanna Bjorg, Van Hove, Geert, Vankerschaver, Erwin, Vanroelen, Christophe   +7 more
core   +2 more sources

Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit. [PDF]

, 2017
ObjectiveTo evaluate the implementation of early screening for critical congenital heart defects (CCHDs) in the neonatal intensive care unit (NICU) and potential exclusion of sub-populations from universal screening.Study designProspective evaluation of ...
Allen, D, Assing, E, Axelrod, R, Blau, J, Chandra, S, Cohen, M, Fofah, O, Garg, LF, Giuliano, M, Govindaswami, B, Grazel, R, Hassinger, D, Hudome, S, Jegatheesan, P, Koppel, R, Kumar, P, Lakshminrusimha, S, Lohr, J, McClure, D, Spillane, N, Van Naarden Braun, K   +20 more
core   +2 more sources

Critical congenital heart disease screening by pulse oximetry in a neonatal intensive care unit. [PDF]

, 2014
ObjectiveCritical congenital heart disease (CCHD) screening is effective in asymptomatic late preterm and term newborn infants with a low false-positive rate (0.035%).
Carrion, V, Lakshminrusimha, S, Manja, V, Mathew, B   +3 more
core   +2 more sources

Low incidence of toxoplasma infection during pregnancy and in newborns in Sweden [PDF]

, 2001
To estimate the burden of disease due to congenital toxoplasmosis in Sweden the incidence of primary infections during pregnancy and birth prevalence of congenital toxoplasmosis in 40978 children born in two regions in Sweden was determined.
Engman, ML, Evengard, B, Forsgren, M, Gilbert, R, Ivarsson, SA, Malm, G, Petersson, K, Tear-Fahnehjelm, K, Wiklund, S   +8 more
core   +2 more sources

Transient evoked otoacoustic emissions testing for screening of sensorineural deafness in puppies [PDF]

, 2011
<p><b>Background:</b> Transient evoked otoacoustic emissions (TEOAE) are widely used for human neonatal deafness screening, but have not been reported for clinical use in dogs.</p> <p><b>Hypothesis/Objectives:< ...
Ahlstrom, Branis, De Capua, Doyle, Famula, Hall, Igarashi, Kemp, Korres, Lonsbury-Martin, Lonsbury-Martin, Lurie, Maxon, Platt, Rhodes, Schemera, Sims, Sockalingam, Strain, Strain, Strain, Strain, Ter Haar, Wilkes, Wilson, Wood   +25 more
core   +1 more source