Treating Birth Defects

About 150,000 babies are born in the United States each year with birth defects. There is a wide range of birth defects, from mild to severe, and they can be inherited or caused by something in the environment. In many cases, the cause is unknown. Often, doctors can detect a birth defect when they do prenatal tests.

Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth. These abnormalities lead to mental or physical disabilities or are fatal. There are more than 4,000 different known birth defects ranging from minor to serious, and although many of them can be treated or cured, they are the leading cause of death in the first year of life.

Common Birth Defects

Neural tube defects (NTD's) occur in the first month of pregnancy when the structure that develops into the brain and spinal cord is forming. Normally, this structure folds into a tube by the 29th day after conception. When the tube doesn't close completely, the baby has an NTD; many babies with these defects are stillborn or die soon after birth. The two most common forms of NTD's are:

• Spina bifida, which happens when the spinal column doesn't close completely around the spinal cord. It ranges from mild to severe and can be associated with loss of bladder and bowel function, paralysis, and, in some cases, death.
• Anencephaly, which occurs in three out of 10,000 births, involves the lack of development of parts of the brain.

Heart defects occur when any of the parts of the heart fail to develop properly. They include:

• Atrial and ventricular septal defects, which are holes in the walls that separate the heart into left and right sides.
• Patent ductus arteriosus, which is present when the tubular blood channel that allows the blood to bypass the lungs while the baby is in the womb doesn't close after birth.
• Aortic or pulmonary valve stenosis, which is a narrowing of the valves that allow blood to flow from the heart to the lungs and other parts of the body.
• Coarctation of the aorta, which is a narrowing of the aorta, the major blood vessel carrying blood from the heart to the rest of the body.
• Transposition of the great arteries, which is the reversal of the connections of the aorta and the pulmonary artery with the heart.
• Hypoplastic left heart system, which is when the side of the heart that pumps blood to the body is underdeveloped or nonexistent.
• Tetralogy of Fallot, which is a combination of four heart defects that involves restriction in the flow of blood to the lungs.

Cerebral palsy usually isn't detected until weeks to months after birth, depending on the severity of the condition. The term actually refers to a group of conditions affecting control of movement and caused by brain damage. People with cerebral palsy have difficulty controlling the motions their muscles make - which muscles and how severely they are impaired varies from person to person. About 70% of people with cerebral palsy also have other disabilities, most often mental retardation. Some children may have trouble walking; others may not be able to swallow or speak. Cerebral palsy occurs in two to six of every 1,000 births; about 10,000 children born in the United States each year develop cerebral palsy.

Congenital hip dislocation occurs when the round upper end of the thighbone doesn't sit inside the socket of the pelvis properly. This can happen in one or both hips. It happens in about one or two in 1,000 births, more often in girls, and tends to run in families, although the exact cause is unknown. Usually it is detected at birth and treated immediately by placing the baby in a soft sling for 6 to 9 months. If it's not recognized and treated early, surgery may be necessary.

Congenital hypothyroidism, which occurs in about one in 3,000 to 4,000 births, results when the baby's thyroid gland (located in the front of the neck) is absent or underdeveloped at birth. This causes the infant to be unable to produce adequate amounts of thyroid hormone, which is important for supporting normal growth and brain development. Developmental delay and permanent mental retardation can result if the condition is not recognized and treated (with oral thyroid hormone) within the first few weeks of life. Because of this, every state in the United States and most other developed countries routinely screen all newborns for the condition with a blood test performed shortly after birth.

Cystic fibrosis (CF) is a disease mainly affecting the respiratory and digestive systems. An inability to carry chloride (one of the chemicals in table and body salts) from the cells that line organs such as the lungs and pancreas to their outer surfaces causes the body to produce a thick, sticky mucus. Children with CF can have trouble breathing and digesting food; symptoms include chronic respiratory problems and pneumonia, bulky stools, and poor weight gain. Treatment includes therapy to control infections and maintain lung function and adequate nutrition.

Gastrointestinal defects are structural defects that can occur at any point along the gastrointestinal tract, which is made up of the esophagus, stomach, small and large intestines, rectum, and anus. The incomplete or abnormal development of any of these organs can cause obstructions or blockages that can lead to swallowing difficulties, vomiting, and problems with bowel movements. Some of these defects are:

• esophageal atresia, or incomplete development of the esophagus
• diaphragmatic hernia, a defect in the layer of muscle separating the chest from the abdomen that allows some of the abdominal organs to protrude up into the chest
• pyloric stenosis, a condition in which the muscular wall of the passage carrying food from the stomach to the small intestine is abnormally thick and the passage narrow, forcing food back out through the esophagus (vomiting)
• Hirschsprung's disease, in which a section of the large intestine is missing the nerves that control its contractions, resulting in severe constipation and sometimes bowel obstruction
• gastroschisis and omphalocele are defects in the abdominal wall allowing the intestine and other abdominal organs to protrude
• anal atresia involves lack of or incomplete development of the anus, causing it to be absent or smaller than it should be, often with the opening in the wrong place
• biliary atresia, in which the bile-carrying ducts in the liver either didn't develop or developed abnormally

Home : Autism Spectrum Disorders : Traumatic Brain Injury : Pediatric Spinal Cord Injury : Neuromuscular Disorders : Wound Care Management

Cerebral Palsy : Pediatric Physical Therapy : Developmental Evaluation : Pediatric Respiratory Therapy : Birth Defects : Pediatric Speech Therapy

Pediatric Neuropsychiatry : Medical Specialty Care : Orthopedic Rehabilitation : Pediatric Occupational Therapy : Neurological Rehabilitation : Pulmonary Medicine Program : Therapeutic Infusion Therapy : Gastroenterology Program : Pediatric Physical Rehabilitation : Contact Us

Copyright 2008. Pediatric Specialty Care Association. All Rights Reserved.

Website Development by Axcension, Inc.