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National Perinatal Statistics |
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Descriptions of Leading Categories of Birth Defects
The economic costs of medical conditions, such as birth defects are often discussed without a full understanding of how these conditions affect the lives of the infants born with them and the impact on their families and communities. Cerebral palsy and the birth defects included in the cost analysis were selected on the basis of their clinical significance and their broad representation of organ systems. (REF: Waitzman, et al - Inquiry) The following provides a brief description of these conditions.
Nervous System
Cerebral palsy: Any of various non-progressive disorders characterized by impairment of voluntary movement, resulting from maldevelopment of the brain or damage to it prenatally, during birth, or at any time up to the age of about 16 years. May be accompanied by other abnormalities of brain function, such as mental retardation.
Spina bifida:A malformation of vertebrae, involving malformation and protrusion of the spinal cord and spinal nerve roots. The degree of consequent disability depends largely on the extent and exact location of the spinal cord malformation(s).
Cardiovascular
Truncus arteriosus: Presence of a large, single arterial vessel at the top of the heart, from which the aortic arch and the pulmonary and coronary arteries originate. Infants with excessive blood flow to the lungs often die within the first year of life.
Single ventricle: Structural abnormality of the main pumping part of the heart, which is normally divided into two ventricles with separate outflow vessels. Congestive heart failure and inadequate oxygenation of the body during infancy are common, usually resulting in death.
Transposition/double outlet right ventricle: A heart malformation in which both the aorta and pulmonary artery arise entirely from the right ventricle, resulting in inadequate oxygenation of the body that may be mild in early infancy. Heart failure, chronic respiratory infections and growth retardation are common complications. Without surgery, survival beyond childhood is unlikely.
Tetralogy of Fallot: A combination of four heart defects, keeping some blood from getting to the lungs for oxygen. Signs and symptoms usually develop in the first 6 months of life and accentuate over 1-3 years. Heart murmurs are characteristic and cyanosis eventually results in the clubbing of fingers and toes. New surgical techniques allow early repair of this defect, so that most affected babies have near normal lifespans.
Alimentary Tract
Cleft lip or palate: A split through the lip, the roof of the mouth (hard palate) or soft tissue in the back of the mouth (soft palate), resulting from failure of these structures to close normally during early fetal development.
Stenosis or atresia of small intestine: Malformation causing narrowing or complete obstruction of the small bowel, with abdominal distention, vomiting and retention of stool.
Genitourinary
Renal agenesis: Absence of one or both kidneys. If one kidney is missing, the prognosis is good unless there are other complications. If both kidneys are absent, death occurs shortly after birth.
Urinary Obstruction: Includes a variety of malformations that obstruct the passage of urine.
Musculoskeletal
Lower-limb/Upper-limb reduction: Any malformation(s) involving underdeveloped or missing bones and cartilages (and adjacent soft tissues) of the thigh, lower leg, and/or foot (lower-limb) or the upper arm, forearm, and/or hand (upper-limb).
Abdominal Wall
Omphalocele: Malformation in which abdominal organs (such as intestine and liver), enclosed in a transparent sac, protrude through an enlargement of the opening at which the umbilical cord enters the abdomen. May be associated with more serious abnormalities.
Gastroschisis: Off-center split in the abdominal wall, through which abdominal organs protrude (not contained in a sac). Seldom associated with other abnormalities.
Chromosomal Abnormality
Down syndrome: A variable combination of birth defects including mental retardation and characteristic facial features. About 40 percent of babies with this condition also have congenital heart defects, and many have some visual and hearing impairment and/or various other health problems.
Other
Diaphragmatic hernia: Protrusion of intestine and often other abdominal organs through a gap in the diaphragm and into the chest, where they may cramp lung development during fetal life. If lung development is adequate, surgical repair of the hernia is uncomplicated, and other abnormalities do not coexist, outlook is a normal lifespan without disability.
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