Publications by Anencephaly
Trisomy_18_2007-2020
Background Edwards syndrome, or Trisomy 18, is a condition in which an infant is born with an extra chromosome. Chromosomes are small packages of genetic material responsible for inherited traits. They determine how an infant’s body forms and grows during pregnancy and how it will function after birth. Typically, an infant has 23 pairs of chr...
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Truncus_Arteriosus_2007-2020
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 ultrasou...
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TAPVR_2007-2020
Background Total Anomalous Pulmonary Venous Return (TAPVR) is a birth defect of the heart that occurs when oxygen-rich blood from the lungs does not return normally to the left atrium, but rather to the right atrium. Babies with TAPVR usually have a hole between the right and left atrium (an atrial septal defect) that allows oxygenated and deox...
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Omphalocele_2007-2020
Background Omphalocele, like gastroschisis, is a birth defect in the abdominal wall that causes an infant’s intestines and sometimes other organs (e.g. stomach and liver) to protrude outside of their body, usually through a hole next to the belly button. Unlike gastroschisis, the organs that are pushed outside the body are covered in a thin...
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Pulmonary_Atresia_2007-2020
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 betwe...
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Single Ventricle_2007-2020
Background Single ventricle is a broad term for a group of rare congenital heart defects where only one of the two ventricles of the heart is of adequate size and function. [1] Signs and symptoms of single ventricle vary depending on the severity, but can include cyanosis (blue skin color), difficulty breathing, difficulty feeding, and letharg...
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Spina_Bifida_2007-2020
Background Spina bifida without anencephalus (hereafter referred to only as spina bifida) is a neural tube defect or brain disorder that results in an incomplete formation of the brain, spinal cord, or meninges (protective covering around the brain and spinal cord). The most serious type results in a sac of fluid protruding through an opening i...
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dTGA_2007-2020
Background Transposition of the great arteries (TGA) is a birth defect of the heart where the aorta and pulmonary arteries are transposed or reversed so that the aorta arises from the right ventricle and the pulmonary artery arise from the left ventricle. There are two forms of TGA, dextro and levo. Dextro (D-TGA) is more common and occurs when...
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Hypospadias_2007-2020
Background Hypospadias is a male birth defect in which the opening of the urethra, the tube that allows urine to drain from the bladder and exit the body, is not located on the tip of the penis. Instead the urethra opening is located somewhere along the underside of the penis. The type of hypospadias depends on the location of the opening of th...
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IAA_2007-2020
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 f...
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