Results 21 to 30 of about 1,248,660 (327)

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Prenatal Diagnosis, 2020
The purpose of this study was to explore the diagnostic yield and clinical utility of trio‐based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.
Chantal Deden, K. Neveling, Dimitra Zafeiropopoulou, C. Gilissen, R. Pfundt, T. Rinne, N. de Leeuw, B. Faas, T. Gardeitchik, S. Sallevelt, A. Paulussen, S. Stevens, E. Sikkel, M. Elting, M. V. van Maarle, K. Diderich, N. Corsten‐Janssen, K. Lichtenbelt, G. Lachmeijer, L. Vissers, H. Yntema, M. Nelen, I. Feenstra, W. V. van Zelst-Stams   +23 more
semanticscholar   +1 more source

Prevalence of congenital malformations at the “les Orangers” maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies

BMC Pediatrics, 2020
Background Congenital malformations are described in about 3% of live births and 20% of stillbirths in the industrialized countries. The prevalence of congenital anomalies in developing countries, including Morocco, is not well known at the national ...
K. Forci, M. H. Alami, E. Bouaiti, M. Slaoui, A. Mdaghri Alaoui, A. Thimou Izgua   +5 more
doaj   +1 more source

Asymmetrically severe internal auditory canal hypoplasia: A case report. [PDF]

, 2020
We present a case of an otherwise healthy 20-month-old with congenital sensorineural hearing loss. CT and MR imaging demonstrated bilateral asymmetrically severe hypoplasia of the internal auditory canals and vestibulocochlear nerves.
Djalilian, Hamid R, Floriolli, David, Hasso, Anton, Martin, Jeremy W, Senturk, Cagin, Thompson, Matthew, Wishka, Christian   +6 more
core   +1 more source

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies

PLoS Medicine, 2020
Background Following a reduction in global child mortality due to communicable diseases, the relative contribution of congenital anomalies to child mortality is increasing.
S. Glinianaia, J. Morris, K. Best, M. Santoro, A. Coi, A. Armaroli, J. Rankin   +6 more
semanticscholar   +1 more source

Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13

Journal of Ultrasonography, 2021
Aim of the study: Trisomy 13 is the third most common autosomal trisomy. The following case report shows an atypical case of trisomy 13, highlighting the usefulness of 3D volume storage and reconstruction, and the necessity of careful interpretation of ...
Szymkiewicz-Dangel Joanna, Hussey Maria Magdalena   +1 more
doaj   +1 more source

Prevalence and diagnosis of congenital uterine anomalies in women with reproductive failure: a critical appraisal [PDF]

, 2008
BACKGROUND: The prevalence of congenital uterine anomalies in women with reproductive failure remains unclear, largely due to methodological bias. The aim of this review is to assess the diagnostic accuracy of different methodologies and estimate the ...
Cocksedge, K.A., Li, T-C., Saravelos, S.H.   +2 more
core   +1 more source

Preferential associated anomalies in 818 cases of microtia in South america [PDF]

, 2013
The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Castilla, Eduardo Enrique, Cox, Thimoty C., Cunningham, Michael L., Dutra, Maria da Graça, Luquetti, Daniela V., López Camelo, Jorge Santiago   +5 more
core   +3 more sources

Congenital anomalies in low- and middle-income countries: the unborn child of global surgery. [PDF]

, 2014
Surgically correctable congenital anomalies cause a substantial burden of global morbidity and mortality. These anomalies disproportionately affect children in low- and middle-income countries (LMICs) due to sociocultural, economic, and structural ...
AF Uba, AL Christianson, AR Measham, B Nandi, BC Warf, CJL Murray, D Adeyemi, D Ozgediz, D Ozgediz, D Poenaru, Diana L. Farmer, Doruk Ozgediz, DPJ Poenaru, DS Corlew, E Tefera, EE Ugiagbe, G Shah, GP Hadley, H Higashi, J Manson, J Rohana, J Sekabira, JA Salomon, JI Hoffman, KW Rattray, L Finer, L Mo-suwan, LB Chirdan, LB Chirdan, LC Nacul, M Peyvasteh, MADMS Islam, MJ Poley, MNH Toro, Nicole A. Sitkin, O Adejuyigbe, P Farmer, P Wickramasinghe, Peter Donkor, PL Bernier, S Agarwala, S Askarpour, S Bickler, S Mhando, SB Goksan, SO Ekenze, SO Ekenze, SW Bickler, SW Bickler, T Ozdogan, V Wu, VB Penchaszadeh, VK Wu, World Health Organization   +53 more
core   +3 more sources

Pattern and Factors Associated with Congenital Anomalies among Young Infants Admitted at Bugando Medical Centre, Mwanza, Tanzania. [PDF]

, 2014
Congenital anomalies or birth defects are among the leading causes of infant mortality and morbidity around the world. The impact of congenital anomalies is particularly severe in middle- and low-income countries where health care resources are limited ...
Chalya, Phillipo L, Kidenya, Benson R, Manyama, Mange, Mashuda, Florentina, Zuechner, Antke   +4 more
core   +1 more source

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

American Journal of Human Genetics, 2010
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).
David T. Miller, Margaret P. Adam, Margaret P. Adam, S. Aradhya, L. Biesecker, A. Brothman, N. Carter, D. Church, J. Crolla, E. Eichler, C. Epstein, W. Faucett, L. Feuk, J. Friedman, A. Hamosh, L. Jackson, E. B. Kaminsky, K. Kok, I. Krantz, R. Kuhn, Charles Lee, J. Ostell, C. Rosenberg, S. Scherer, N. Spinner, D. Stavropoulos, J. Tepperberg, E. Thorland, J. Vermeesch, D. Waggoner, M. Watson, C. Martin, D. Ledbetter   +32 more
semanticscholar   +1 more source