Understanding Birth Defects

Exploring Common Birth Defects

Cerebral palsy is not a specific birth defect but is a term to describe various medical complications that can affect a baby's brain at birth. It is very difficult to actually make the diagnosis of cerebral palsy at birth, as many times the symptoms do not present themselves until later.

There are certain birth defects that are more common than others they include: cerebral palsy, cleft lip/palate, clubfoot, congenital hip dislocation, congenital hypothyroidism, cystic fibrosis (CF), down syndrome, fetal alcohol syndrome (FAS), heart defects, muscular dystrophy (MS), neural tube defects (NTDs), phenylketonuria (PKU), sickle cell anemia, and tay-sachs disease.

Cerebral palsy is not a specific birth defect but is a term to describe various medical complications that can affect a baby's brain at birth.

It is very difficult to actually make the diagnosis of cerebral palsy at birth, as many times the symptoms do not present themselves until later. The diagnosis usually comes about when it is used to describe conditions that affect control of movement that can be attributed to some kind of brain trauma experienced at birth.

The cause of cerebral palsy is usually unknown but may include rubella, Rh disease, prematurity, or brain damage during the last trimester of pregnancy or at birth. Cerebral palsy can also occur after birth due to meningitis or head injuries.

Cleft lip/palate can happen when the tissues of the mouth, lip and palate do not form properly during fetal development. An opening between the upper lip and the nose is known as cleft lip and an opening between the roof of the mouth and the nasal cavity is known as cleft palate. Both of these defects can be surgically repaired after birth.

Clubfoot is a structural defect of the ankle blood vessels and foot bones, joints and muscles that may affect one foot or both feet. There is usually a limited range of motion and the affected foot usually points down and turn in.

The cause is unknown and treatment is a cast that is applied immediately after birth; which works 95% of the time to correct the defect. If the original casting does work, then surgery and recasting is then done in hopes of correcting the defect.

Congenital hip dislocation is when the upper end of the thighbone fails to sit inside the socket of the pelvis in the proper fashion. This can affect one or both hips. This defect tends to run in families and happens more often to girls. The baby is placed in a soft sling for 6 to 9 months to correct the defect. If it goes undetected at birth, surgery may be necessary to correct it.

Congenital hypothyroidism is when the baby's thyroid gland is absent or is underdeveloped at birth. The baby is unable to produce enough thyroid hormone which is what supports normal growth and brain development.

The baby will experience developmental delays and permanent mental retardation is the condition is not recognized and treated with oral thyroid hormone within the first few weeks of life. All newborns in the United States is now screened for this condition with a blood test done at birth.

Folic Acid Birth Defects

The advise her caregiver can give her just may save her some grief. As her pregnancy increases her joint become more laxity and there is a higher risk for strains and sprains.

Cystic fibrosis (CF) is a respiratory and digestive system disease. Symptoms are: trouble breathing, trouble digesting food, pneumonia, bulky stools and poor weight gain. This is a genetic defect. Treatment includes therapy and proper nutrition.

Down syndrome is actually a group of abnormalities, which is genetic in origin. Babies with down syndrome have an extra (third) copy of chromosome number 21 in their cells. Mental retardation, distinctive facial and other physical features are characteristic of those with this syndrome.

There can be a wide variety of severity. There may be other medical issues such as heart defects experienced by those with this disorder, which may be treated with medications or surgery.

Fetal alcohol syndrome (FAS) is characterized by slow growth, mental retardation, abnormal facial features and central nervous system problems.  There is no cure or treatment; moms avoiding alcohol as soon as they realize that they are pregnant can prevent it.

Muscular dystrophy (MS) is a term used to describe 40 different muscular diseases that involve progressive weakness and degeneration of muscle movement. This is a genetic disease and there is no cure. Treatment includes physical and respiratory therapy, and medications.

Neural tube defects (NTDs) include Spina bifida and Anencephaly and develop during the first month of pregnancy as a structural birth defect involving the brain and spinal cord. Many babies are stillborn or die soon after birth.

MTDs are multifactorial defects and may often be prevented by mothers taking adequate amounts of folic acid before and during pregnancy.

Phenylketonuria (PKU) presents with developmental delays, mental retardation and is a genetic disease because the body does not process protein correctly. There is a blood screening test done shortly after birth that detects PKU. If the child is treated promptly with a special diet mental retardation can be avoided.

Sickle cell anemia is a genetic disorder involving abnormal shape of the blood cells and results in periodic episodes of pain and chronic anemia (low blood count). Treatment includes antibiotics, blood transfusions and bone marrow transplants. Most U.S. states have a screening blood test for newborns to detect this defect.

Tay-sachs disease is a central nervous system disorder that results in blindness, dementia, paralysis, seizures, deafness and death. Symptoms develop during the first few months of life.

Better Your Health

Types of Birth Defects Explained
▫  Birth Defect-- Cerebral Palsy
▫  Birth Defect--Cleft Lip-Palate
▫  Birth Defect--Fetal Alcohol Syndrome
▫  Birth Defect--Hypoplastic Left Heart Syndrome
▫  Birth Defect--Phenylketonuria
▫  Birth Defect--Spina Bifida
▫  Birth Defects and the Fight to Prevent Them
▫  Exploring Common Birth Defects
▫  Fight Birth Defects With Good Nutrition
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