Birth Defect descriptions
Tracking Birth Defects FAQ
Efforts to choose which birth defects to track were made by the Environmental Public Health Tracking Birth Defects Content Workgroup. The twelve birth defects selected below by the workgroup are part of the National Birth Defects Prevention Network's annual report, which means that states are already collecting this birth defects data.
Anencephaly
Anencephaly is a fatal birth defect that happens when the
neural tube does not fully close at the top. As a result, the skull and
brain do not form properly. Babies with anencephaly die before or shortly after
birth. Learn more about
anencephaly at the Centers
for Disease Control and Prevention. (Source: CDC)
Spina Bifida (without Anencephaly)
Spina bifida occurs within the first few weeks of pregnancy, often before a woman knows she is pregnant. It happens when the spine and back bones do not close all the way. When this happens, the spinal cord and back bones do not form as they should. A sac of fluid comes through an opening in the baby's back. Much of the time, part of the spinal cord is in this sac and it is damaged. Most children born with
Spina bifida live full lives, though they often have lifelong disabilities and need many surgeries.
Learn more about spina bifida at the
Centers for Disease Control and Prevention. (Source: CDC).
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Hypoplastic Left Heart Syndrome
Hypoplastic left heart is a combination of defects that results in a left ventricle (the heart's main pumping chamber) that is too small to support life. This defect is the most common cause of death from congenital heart disease. However, over the past 20 years, survival rates have dramatically improved with new surgical procedures and, less frequently, heart transplants. The long-term outlook for children with this heart defect remains uncertain. (Source: March of Dimes)
Learn more about Hypoplastic Left
Heart at the
March of Dimes
and the American Heart Association.
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Tetralogy of Fallot
Tetralogy of Fallot is a combination of four heart defects that keeps some blood from getting to the lungs. As a result, the blood that is pumped to the body may not have enough oxygen. Affected babies have episodes of cyanosis and may grow poorly. This defect is usually surgically repaired at around 3 to 6 months of age. Most affected children live normal or near-normal lives. (Source: March of Dimes)
Learn more about Hypoplastic Left
Heart at the
March of Dimes
and the American Heart Association.
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Transposition of the Great Arteries
Transposition of the great arteries occurs when the positions of the two major arteries leaving the heart are reversed, so that each arises from the wrong pumping chamber. Affected newborns suffer from severe cyanosis due to a lack of oxygen in the blood. Recent surgical advances make it possible to correct this otherwise lethal defect in the newborn period. (Source: March of Dimes)
Learn more about Hypoplastic Left
Heart at the
March of Dimes
and the American Heart Association.
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Cleft Lip with or without Cleft Palate
A cleft lip is an opening in the upper lip. The opening
in the lip can be a small slit in the lip or a large opening that goes
through the lip into the nose. A cleft palate is an opening in the roof of
the mouth, called the palate. A cleft palate can occur when the two
sides of the palate do not come together correctly. Learn more about
cleft lips
at the Centers
for Disease Control and Prevention.
(Source:
CDC)
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Cleft Palate without Cleft Lip
A cleft palate is an opening in the roof of the mouth, called the palate. A cleft palate can occur when the two sides of the palate do not come together correctly.
Learn more about cleft palates
at the Centers
for Disease Control and Prevention.
(Source:
CDC)
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Hypospadias
Hypospadias is a fairly common defect found in male babies. In babies with hypospadias,
the opening of the urethra (where urine comes out) is not at the tip of the
penis but on the underside. Treatment depends on how far away from the tip
the opening is and can involve complex surgery. Learn more about
hypospadias at the
Centers for Disease Control and Prevention. (Source: CDC).
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Gastroschisis
Gastroschisis is a type of hernia. Hernia means "rupture."
Babies with this condition have a hole in the abdominal wall, usually on the
right side of the umbilical cord. The child's intestines can be easily seen.
Learn more about gastroschisis
at the
National Library of Medicine
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Upper Limit Deficiencies
Upper limb birth defects are when part of the arm or hand are missing or do not develop correctly. It could involve a problem with underdeveloped or missing bones, cartilage or muscles. Learn more about Hypoplastic Left
Heart at the
March of Dimes (Source: March of Dimes)
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Lower Limb Deficiencies
Lower limb birth defects are when part of the leg or foot are missing or do not develop correctly. It could involve a problem with underdeveloped or missing bones, cartilage or muscles. Learn more about Hypoplastic Left
Heart at the
March of Dimes. (Source: March of Dimes)
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Down Syndrome (Trisomy 21)
Down syndrome is a chromosomal disorder that includes a
combination of birth defects. Affected individuals have some degree of
mental retardation, characteristic facial features and, often, heart defects
and other health problems. The severity of these problems varies greatly
among affected individuals. Learn more about Hypoplastic Left
Heart at the
March of Dimes.
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