Publications by Anencephaly
Prevalence16_20
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 2.7 (1.5,4.6) NA Atrial septal defect 882 172.1 (161.0,183.9) NA Atrioventricular septal defect 21 4.1 (2.5,6....
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Anencephaly 2007-2020
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 forebr...
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anencephaly2020
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 forebr...
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Trisomy 21 2007-2015
Background Down syndrome, or Trisomy 21, is a condition in which an infant is born with an extra copy of chromosome 21. Chromosomes are small packages of genetic material responsible for inherited traits. They determine how the body forms and grows during pregnancy and how it will function after birth. Typically, an infant has 23 pairs of chromos...
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Trisomy 18 2007-2015
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 chrom...
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Hypospadias 2007-2015
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 the ...
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Hirschsprung 2007-2015
Background Hirschsprung disease (or congentital aganglionic megacolon) is a birth defect that affects the functioning of the infant’s colon (part of the large intestine) due to missing nerve cells in the muscles. These nerve cells are important for the proper movement of stool through the bowel. When nerve cells are missing from areas of the co...
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Trisomy 13 2007-2015
Background Patau syndrome, or Trisomy 13, is a condition where 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 is born with 23 pairs of c...
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Omphalocele 2007-2015
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, t...
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Fetal Alcohol Syndrome (FAS) 2007-2015
Background Fetal alcohol syndrome (FAS) falls on the most severe end of the fetal alcohol spectrum disorders (FASD), which are a group of conditions that can occur in a child whose mother drank alcohol during pregnancy.[1] Specifically, alcohol is a teratogen that causes developmental malformations in a fetus.[2] The effects of FASD can include p...
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