Publications by Anencephaly

Anencephaly 2007-2017

14.12.2021

Background Anencephaly is a neural tube defect (NTD) or brain disorder that results when the upper part of the neural tube does not close all the way. The neural tube is essential in forming the infant’s brain, skull, and spinal cord. The incomplete closure of the upper part of the neural tube results in a infant being born without the forebrai...

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Tricuspid Atresia 2007-2017

14.12.2021

Background Tricuspid atresia is a birth defect of the heart. The tricuspid valve controls blood flow between the two chambers on the right side of the heart (right atrium and right ventricle). Tricuspid atresia occurs when this valve forms incorrectly, or not at all. [1] A malformed, or absent tricuspid valve affects blood flow to the right ventr...

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Pulmonary Atresia 2007-2017

14.12.2021

Background Pulmonary atresia is a birth defect of the heart where the pulmonary valve fails to form. Due to this defect, blood from the right ventricle cannot get directly into the lungs from the pulmonary artery as in a normal heart. [1] In newborns with pulmonary atresia, the blood bypasses the unformed pulmonary valve through openings between ...

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Teratology of Fallot 2007-2017

14.12.2021

Background Tetralogy of Fallot (TOF) is a birth defect of the heart consisting of four components. These include: 1) a hole between the two ventricles (ventricular septal defect), 2) a narrowed pulmonary valve and pulmonary artery, 3) an enlarged aorta which overrides the ventricular septum, and 4) an abnormally thickened wall of the right ventri...

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Interrupted Aortic Arch 2007-2017

13.12.2021

Background Interrupted aortic arch (IAA) is a birth defect of the heart defined by the abnormal development of the aortic arch system during the fifth to seventh week of fetal development. Interrupted aortic arch is characterized by absence or discontinuation of a portion of the aortic arch, the main vessel that carries oxygen-rich blood away fro...

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Hypoplastic Left Heart Syndrome 2007-2017

10.12.2021

Background Hypoplastic left heart syndrome (HLHS) is a birth defect that affects the development of the left side of the heart. Hypoplastic left heart syndrome affects many components of the heart resulting in the underdevelopment of the left ventricle, mitral valve, aortic valve, and the aorta. Additionally, it is common for newborns with HLHS h...

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Double outlet right ventricle 2007-2017

10.12.2021

Background Double outlet right ventricle (DORV) is a rare congenital heart defect where the heart’s two major arteries both connect to the right ventricle. [1] The human heart has four chambers. The top chambers (the right and left atria) receive blood flowing into the heart and the bottom chambers (the right and left ventricles) pump blood out...

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Prevalence Rates 2013-2017

10.12.2021

Report and Estimated Defect Prevalence Estimates (per 10,000 live births) Defect Reports Report Prevalence (95%CI) PPV NPV Estimated Defects Defect Prevalence (95%CI) Cardiovascular   Aortic valve stenosis 14 2.5 (1.4,4.2) NA   Atrial septal defect 852 152.2 (142.2,162.8) NA   Atrioventricular septal defect 23 4.1 (2.6,6...

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Common truncus 2007-2017

10.12.2021

Background Truncus arteriosus is a birth defect of the heart that occurs when the aorta and pulmonary artery fail to separate into two distinct blood vessels. [1] This leads to oxygenated and unoxygenated blod mixing before it is pumped to the rest of the body. [2] This defect can be diagnosed during pregnancy using prenatal tests like ultrasound...

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Gastroschisis 2007-2017

10.12.2021

Background Gastroschisis, like omphalocele, is a birth defect in the abdominal wall that causes a newborn’s intestines and sometimes other organs (e.g. stomach and liver) to protrude outside of the baby’s body, usually through a hole next to the belly button. This condition occurs when the muscles that make up the baby’s abdominal wall do ...

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