The Prevalence and Clinical Significance of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.31626
Abstract: Key Points Question What is the prevalence and importance of congenital anomalies of the kidney and urinary tract (CAKUT) in preterm infants? Findings In this cohort study of 409 704 infants born at 23 to 33… read more here.
Keywords: urinary tract; preterm infants; kidney urinary; congenital anomalies ... See more keywords
Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina
Sign Up to like & getrecommendations! Published in 2019 at "Birth Defects Research"
DOI: 10.1002/bdr2.1472
Abstract: In Argentina, birth defects are a leading cause of infant deaths. In 2009, the National Network for Congenital Anomalies of Argentina (RENAC) was established as a hospital‐based surveillance system of major structural birth defects. To… read more here.
Keywords: national network; congenital anomalies; quality; anomalies argentina ... See more keywords
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights
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DOI: 10.1002/bdr2.2003
Abstract: About 20%–30% of children with birth defects have multiple major birth defects in more than one organ system, often referred to as multiple congenital anomalies (MCAs). Evaluating the patterns of MCAs can provide clues to… read more here.
Keywords: birth defects; birth; multiple congenital; congenital anomalies ... See more keywords
Early pregnancy vitamin D status and risk of select congenital anomalies in the National Birth Defects Prevention Study
Sign Up to like & getrecommendations! Published in 2022 at "Birth Defects Research"
DOI: 10.1002/bdr2.2101
Abstract: Vitamin D deficiency is associated with adverse pregnancy events. However, its role in the etiology of congenital anomalies remains unclear. We examined the association between vitamin D status, measured through prepregnancy diet, UV exposure, season… read more here.
Keywords: birth defects; vitamin; vitamin status; pregnancy ... See more keywords
Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23025
Abstract: While congenital anomalies of the kidney and urinary tract (CAKUT) constitute one‐third of all congenital malformations, the mechanisms underlying their development are poorly understood. Some studies have reported an association between CAKUT and copy number… read more here.
Keywords: congenital anomalies; urinary tract; copy number; kidney urinary ... See more keywords
Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24441
Abstract: Array‐based genomic analysis is a gold standard for the detection of copy number variations (CNVs) as an important source of benign as well as pathogenic variations in humans. The introduction of chromosomal microarray (CMA) has… read more here.
Keywords: neurodevelopmental disorders; microarray postnatal; postnatal diagnosis; chromosomal microarray ... See more keywords
Patient preferences for prenatal testing and termination of pregnancy for congenital anomalies and genetic diseases in Ethiopia
Sign Up to like & getrecommendations! Published in 2019 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5472
Abstract: As prenatal diagnostic services expand throughout low‐income countries, an important consideration is the appropriateness of these services for patients. In these countries, services now include prenatal ultrasound and occasionally genetic testing. To assess patient interest,… read more here.
Keywords: congenital anomalies; anomalies genetic; prenatal testing; testing termination ... See more keywords
Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases.
Sign Up to like & getrecommendations! Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-67144-4_18
Abstract: Congenital anomalies (CA) represent an important fraction of rare diseases, due to the critical role of non-genetic factors in their pathogenesis. CA are the main group of rare diseases in which primary prevention measures will… read more here.
Keywords: congenital anomalies; toxicants maternal; primary prevention; health ... See more keywords
Congenital Anomalies: Cluster Detection and Investigation.
Sign Up to like & getrecommendations! Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-67144-4_29
Abstract: This work summarizes the main aspects to be considered around birth defects (or congenital anomalies) clusters. Most birth defects (BD), considered individually, fall into the definition of rare diseases (RD), according to their low frequency.… read more here.
Keywords: cluster detection; congenital anomalies; anomalies cluster; detection investigation ... See more keywords
Various congenital anomalies of the inferior vena cava: review of cross-sectional imaging findings and report of a new variant
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DOI: 10.1007/s00261-017-1430-y
Abstract: The inferior vena cava (IVC) is an important structure receiving a large amount of venous return and is associated with various congenital disorders. Advances in diagnostic imaging and its increasing accessibility have led to an… read more here.
Keywords: congenital anomalies; vena cava; inferior vena; various congenital ... See more keywords
Congenital anomalies of the limbs in mythology and antiquity
Sign Up to like & getrecommendations! Published in 2018 at "International Orthopaedics"
DOI: 10.1007/s00264-018-3776-3
Abstract: Congenital anomalies of the limbs have been observed since ancient human civilizations, capturing the imagination of ancient physicians and people. The knowledge of the era could not possibly theorize on the biologic aspects of these… read more here.
Keywords: congenital anomalies; limbs mythology; mythology antiquity; anomalies limbs ... See more keywords