What Are Birth Defects Birth defects are defined

What Are Birth Defects? 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. According to the March of Dimes, about 150, 000 babies are born with birth defects each year in the United States. The American College of Obstetricians and Gynecologists (ACOG) says that out of every 100 babies born in the United States, three have some kind of major birth defect. Birth defects can be caused by genetic, environmental, or unknown factors.

Three methods of testing for congenital defects are ultrasound, chorionic villi sampling, and amniocentesis.

Spina bifida is determined during the first trimester of pregnancy. As the embryo forms, the bones in the spinal column come together and tissue grows around the vertebrae, closing it. In the case of spina bifida, an opening remains. The size of the opening varies from almost pinpoint to several inches. Current research links the nutrient FOLIC ACID to this birth defect. It is imperative that the mother has an adequate supply of this nutrient prior to AND in the early stages of pregnancy. Oranges are a common source of this nutrient, as well as many enriched breads and cereals products. For this reason, spina bifida would be considered as having an environmental cause.

The area where the bones are not properly closed allows the cord, tissue, and/or fluids to protrude. The location of the “opening” on the spine is critical. Areas and functions below the hole are affected. Some areas above the hole may be affected as well, especially the brain, as it is connected to the spinal cord and nervous system. The top arrow points to a part of the spine that is properly closed. The bottom arrow points to an area that is improperly closed… spina bifida.

Various degrees of leg and foot deformities are found in spina bifida patients, depending on the size of the improper spinal closure. The rarest form of spina bifida is when the spinal tissue actually protrudes from the body. This only occurs in 10% of all cases.

Spina Bifida babies are at an immediate and life-long risk. Those that survive have problems ranging from mild orthopedic deformities and normal intelligence to severe physical and mental handicap. They are frequently intolerant of “latex” products. The bowel and bladder are often affected, and the use of a catheter is common.

The person with spina bifida may benefit from the use of special adaptive equipment… such as braces, walkers, carts, and wheelchairs.

The best hope for children with spina bifida may be early diagnosis and prenatal surgery to close the spine. Some repairs can be made while the fetus is still in the womb.

Marfan's syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan's syndrome may exhibit long limbs and spiderlike fingers, chest abnormalities (inversion of the septum), curvature of the spine and a particular set of facial features including a highly arched palate, and crowded, crooked teeth. The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan's syndrome is usually an inherited or genetic disorder, prospective parents with a family history of Marfan's syndrome should get genetic counseling.

It is named after it’s discoverer, Dr. Marfan. Those who have the syndrome have the unique characteristics. Do these characteristics look familiar? It is now believed that Abraham Lincoln may have had Marfan’s Syndrome. Life expectancy may be shortened by complications from the heart abnormalities.

A couple of easy diagnostic tools for Marfan Syndrome. Symptoms of Marfan Syndrome can be easily confused with other disorders.

Club foot is a birth defect of the foot and ankle. It can occur in one or both feet. Advances in medicine have been useful in the surgical correction of problems. This defect occurs in the first trimester of pregnancy… during formation.

In the individual with hydrocephalus, the fluid does not drain away properly, but accumulates. Normally within the brain there are some cavities named ventricles, where a liquid known as Cerebrospinal Fluid (CSF) is produced. The purpose of this is to protect the brain and spinal cord, acting as a shock absorber. It also carries away disposed materials. The CSF circulates from the ventricles towards a space that exists between the brain and the membranes (meninges) that surround it, from where it is "eliminated", into the blood stream. In an infant, the seams of the skull have not yet fused, so the skull gets bigger as the fluid accumulates.

This baby recovers after having surgery to install a shunt. A miniature pump called a shunt is placed in the head to remove off excess fluid.

If you look closely, you can see a scar above this baby’s ear, where surgeons opened the skull to place a shunt. Early detection and immediate treatment can minimize or even eliminate brain damage and permanent skull deformity caused by the pressure of excess fluid.

ANY consumption of alcohol during ANY time during the gestation period can damage a baby’s brain. Fetal Alcohol Syndrome (FAS) and Fetal Alcohol Effects (FAE) are growing problems in the United States. Despite the warnings posted in bars and restaurants and the increased media attention given to the perils of alcohol use during pregnancy, the rate of drinking among women of childbearing age continues to rise. The incidence of FAS may be as high as 12, 000 per year, with FAE evident in up to 36, 000 infants per year. Drinking during pregnancy affects not only the mother, but also the growing fetus. Alcohol can cause physical deformities and neurobehavioral deficits in the infant and growing child. Thus, it is not surprising that FAS is the leading cause of mental retardation and the only one that is preventable.

Facial characteristics that suggest the diagnosis of FAS.

Prenatal and/or postnatal growth delay (height and/or weight below the tenth percentile, Central nervous system (brain) involvement (conditions such as head circumference below the third percentile, intellectual impairment, learning disabilities, attention deficit/hyperactivity or other neurological abnormalities), Characteristic facial features (short eye slits, flat mid face, long/indistinct space between nose and upper lip, and thin upper lip.

Disabilities, whether physical or mental, vary widely between individuals depending on the type and amount of brain damage. What is cerebral palsy? Cerebral palsy is the name given to a condition which affects the way the brain controls the muscles of the body. This results in difficulties in movement and posture. "Cerebral" - refers to the brain "Palsy" - can mean weakness or paralysis or lack of muscle control

Causes of cerebral palsy Cerebral palsy is the most common physical disability in childhood. It is estimated 2 to 3 people out of every 1000 will have cerebral palsy. This condition is not hereditary and there is no cure. Many causes of cerebral palsy are still not known or understood. Injury or changes to the developing brain are associated with cerebral palsy. Careful monitoring during the birth process may prevent some types of brain injury. For example, it is known the developing brain can be injured by: * Exposure to certain infections such as Rubella (German Measles) in the early months of pregnancy * Reduced oxygen supply to the baby during or after birth * Exposure of an infant to severe infection shortly after birth or the first few weeks of life. * An accident in the early years of life; for example, with a near drowning or motor vehicle accident.

The vast majority of hemangiomas fall into the category of port-wine stains or small “birthmarks”, with only 15% being of the tumor variety or needing medical intervention.

To remove some protruding hemangiomas surgically would result in bleeding to death. As the blood vessels in the area die, part or all of the mass can be removed. Laser surgery has been extremely effective for hemangiomas…even removal of the “stain” variety.

Down’s Syndrome is a genetic disorder caused by an extra 21 st chromosome. The egg carries 23 chromosomes; the sperm carries 23 chromosomes; the developing embryo should have 23 PAIRS of chromosomes…with no spares! Down’s Syndrome results in mental retardation. It was once known as Mongoloidism.

Physical Characteristics: Muscle hypotonia, low muscle tone Flat facial features, a somewhat depressed nasal bridge and a small nose Upward slanted eyes, small skin folds on the inner corner of the eyes Short neck Misshaped ears White spots on the colored part of the eye Single skin crease in the palm of the hand Excess flexibility in joints Heart defects Sight and hearing problems Large and protruding tongue Fifth finger has one flexion furrow instead of two Excessive space between large and second toe

A risk factor is something that increases your chance of getting a disease or condition. Genetics: If either parent is a carrier of a specific type of Down's syndrome there is an increased risk of giving birth to a child with this type of Down's syndrome. Age: The chance of having a child with Down's syndrome increases after a woman reaches age 35. Sex: More boys are born with Down's syndrome.

Entertainer Jerry Lewis has made it his life-long mission to raise funds to find a cure for muscular dystrophy. Each year millions of dollars are collected from the traditional Labor Day television marathon. What is muscular dystrophy? Muscular dystrophy (MD) refers to a group of degenerative muscle diseases. The nine major forms of muscular dystrophy are: Duchenne, Becker, Facioscapulohumeral, Myotonic or Steinert's Disease, Limb-Girdle, Congenital, Oculopharyngeal, Distal, and Emery-Driefuss. Each of these individual forms affects only two in 10, 000 persons, but that amounts to 18 total per 10, 000, and that is not a good statistic. All forms are genetically linked. The DNA pattern prevents the body from making the necessary musclebuilding protein called dystrophine.

The symptoms common to all forms of muscular dystrophy are progressive weakness and atrophy (wasting) of skeletal muscles. Those are the muscles under voluntary control. Whether or not they are ultimately lethal (as in Duchenne muscular dystrophy when death often occurs by age 5) or relatively mild (as in facioscapulohumeral muscular dystrophy when the person lives a normal life span) is related to: Age of onset of symptoms (from neonatal to late adulthood) Muscles first and most often affected Whether or not there is involvement of the heart (different than skeletal muscle, but also a kind of muscle) or other organs Degree of functional disability resulting from symptoms Rate of progression of disease (from slow to rapid) Complications may include: Deformity, decreased ability to care for oneself, heart problems and breathing problems.

Multiple sclerosis is a central nervous system disorder marked by decreased nerve function with initial inflammation of the protective myelin nerve covering and eventual scarring. Symptoms and severity of symptoms vary widely and may progress into episodes of crisis alternating with episodes of remission.

Though MS is not directly inherited, there is a genetic link. However, 80% of people with MS do not have it in their family. Women are twice as likely to develop MS as men. The average of onset is 20 to 40 years old. MS becomes more common among populations further from the equator. It is also more common among Caucasians, especially those of Northern Europe ancestry. There is no cure for MS; only drug and exercise therapy to treat symptoms. Symptoms might include numbness or tingling, decreased motor coordination, unusual fatigue, visual changes, spasticity, slurred speech, muscle weakness, bowel and bladder issues, sexual functioning issues, sensitivity to heat, paralysis, and cognitive problems. This birth defect differs from many others because it is not present at birth. However, a genetic predisposition for developing the disease IS!

During the first trimester of pregnancy the two sides of the mouth and lip area grow together. A combination of genetic and environmental factors sometimes interfere with this development, and a cleft results. Clefts often involve the lip, the roof of the mouth (hard palate) or the soft tissue in the back of the mouth (soft palate).

In addition to needing plastic surgery to repair the opening, these children may have problems with their feeding and their teeth, their hearing, their speech, and their psychological development as they grow up. Medical and technology advances have been invaluable in the treatment of the cleft lip and palate. Clefts occur 1 time in 1, 000 births in Caucasians, more often in Asians and Native Americans, and less often in African Americans.

People who have CF produce abnormally thick, sticky mucus, which clogs the lungs and leads to recurring lung and sinus infections and difficulty breathing. Reduced oxygen in the blood also leads to a characteristic rounding and enlargement of the nail bed in the fingers and toes, called clubbing. Those with the disease may also develop a barrel-shaped chest as a result of their increased work to breathe. These repeated infections often lead to fleshy growths inside the nose, called nasal polyps. The thick mucus also obstructs the ducts of the pancreas, preventing digestive enzymes from reaching the intestines. So those with CF do not absorb nutrients from their food well, and they eliminate nondigested food through the bowel, resulting in very large stools. Because so little food is absorbed, those with CF have difficulty gaining and maintaining weight, despite a healthy appetite and diet.

Cystic Fibrosis is a genetic disorder, with over 95% of all cases diagnosed in Caucasians. One out of every 31 men and women possess an abnormal copy of the CF gene. If the child inherits one abnormal copy of the CF gene from it’s mother and one from it’s father, then they will suffer from cystic fibrosis. It occurs in 1 out of 2500 births. Most victims of cystic fibrosis succumb to the disease before age 30. This mother pounds on her daughter’s chest several times a day in order to dislodge thick mucous from lung sacs and give some breathing relief.

Dwarfism is a genetic/genetic linked disorder. All forms of dwarfism are characterized by small stature. The overwhelming majority of these individuals enjoy normal intelligence, normal life spans, and reasonably good health. Medical problems are often linked to orthopedic complications. In most forms of dwarfism, only the long bones are shortened. This produces a body image that is quite disproportionate. Dwarfs, men and women, rarely grow over 4’ 10” tall.

The terms dwarf and midget often invite bias, and the term “little people” is preferred today. Little people have organized into national and international groups, sharing information and addressing issues of concern. Sizes of clothing and furnishings present constant problems, as well as car air bags. One form of dwarfism is caused by pituitary dysfunction. Not enough growth hormones are produced. Diagnosis is often not made for several years and it is difficult to pinpoint which hormones are deficient. These dwarfs have body parts in normal proportion, and used to be called midgets.

Sickle cell anemia is an inherited blood disorder. In sickle cell anemia, the body produces an abnormal form of hemoglobin. Hemoglobin, a protein responsible for transporting oxygen to all parts of the body, is a component of red blood cells. NORMAL ABNORMAL Named after this cutting tool… a sickle. Sickle cell disease, also called sickle cell anemia, primarily affects people of African descent, but also occurs in some people of Mediterranean, Middle Eastern and East Indian origin. Among blacks, one newborn in 375 develops the disease.

Symptoms often appear after the child reaches the age of six months. One of the first signs is painful swelling of the hands or the feet or both. The child may cry frequently and not eat much. The whites of the eyes may appear yellow. The tongue, lips, and palms may be paler than normal. Children showing these symptoms should be taken to a hospital, where a blood test can show if the problem is sickle-cell anemia. When sickled cells clog blood vessels, pain most commonly affects the joints. A severe crisis can also disrupt the work of the brain, the lungs, the heart, the kidneys, and the spleen—sometimes with fatal consequences. Leg ulcers in the ankle region may persist for years. Children risk seizures or strokes. Those with sickle-cell anemia are especially prone to infectious diseases, since the disorder weakens natural defenses. Infection is a common cause of death.

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