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
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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
Updated EUROCAT guidelines for classification of cases with congenital anomalies
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DOI: 10.1002/bdr2.2314
Abstract: Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.… read more here.
Keywords: anomalies updated; congenital anomalies; eurocat guidelines; updated eurocat ... See more keywords
Congenital Anomalies of the Gastrointestinal Tract in Conjunction of Congenital Heart Diseases in Infants With Trisomy 21
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DOI: 10.1002/bdr2.2406
Abstract: Infants with Trisomy 21 are known to have increased incidence congenital anomalies including congenital heart diseases (CHD) and congenital gastrointestinal anomalies. It is not known if there are patterns of coexistence. read more here.
Keywords: anomalies gastrointestinal; congenital heart; congenital anomalies; heart diseases ... See more keywords
Prenatal Opioid Use Disorder and the Risk of Congenital Anomalies in Offspring: A Population‐Based Study
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DOI: 10.1002/bdr2.2456
Abstract: To examine whether prenatal opioid use disorder (OUD) diagnosis is associated with the risk of congenital anomalies (CAs) in offspring. read more here.
Keywords: use disorder; prenatal opioid; opioid use; risk congenital ... See more keywords
Association Between Socioeconomic Status and Major Congenital Anomalies: A Two‐Sample Mendelian Randomization Study
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DOI: 10.1002/bdr2.2524
Abstract: Traditional observational studies suggest that socioeconomic status (SES) may influence the risk of congenital anomalies; however, an association remains unclear due to residual confounding. This study used Mendelian randomization (MR) to explore the potential causal… read more here.
Keywords: association; congenital anomalies; mendelian randomization; socioeconomic status ... 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
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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
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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