Some babies survive pregnancy, but are born with serious problems that threaten their health or even their lives. These problems are called birth defects. There are hundreds of types of birth defects, each with its won set of symptoms. Some are so mild that no one would ever know the child has a birth defect. Others can result in severe lifelong disabilities or even death. Approximately 150,000 babies around the workld are born each year with birth a birth defect.

Some birth defects cause an abnormality in the structure of the body. For example, an affected baby might have a misshapen foot or an extra or missing finger. Other birth defects cause one or more systems of the body to not function properly, blindness, deafness, and mental retardation are examples.

Not all birth defects are apparent at birth. Sometimes the abnormality isn't discovered until months or even years have passed.

Cerebral Palsy

Description - Cerebral palsy is a general term for a variety of problems of the motor system. The symptoms can include lack of coordination, stiffness, jerkiness, difficulty with speech, and paralysis.

Causes - Cerebral palsy results from damage to the brain before, during, or shortly after birth. The causes vary.

Detection - The symptoms usually appear during the first year of life. The child usually does not develop motor skills as quickly as other babies.

Treatment - The damage caused to the brain is irreversible. However, physical therapy, speech therapy, surgery, and medication can often lessen the effects of this damage.

Cleft Lip and/or Cleft Palate

Description - A gap in the upper lip or palate ( the roof of the mouth) causes problems with eating, swallowing, speech, and appearance.

Causes - Condition may be caused by hereditary or environmental environment factors or both.

Detection - Both cleft lip and cleft palate are apparent at birth. They can often be detected by ultrasound before birth.

Treatment - Surgery corrects the gap and helps eliminate the problems associated with it.

Cystic Fibrosis

Description - Cystic fibrosis (CF) affects the respiratory and digestive systems. Many with CF die before reaching adulthood, although treatment now allows sufferers wit the condition to live longer than in the past.

Cause - It is far more likely to affect Caucasians than African or Asian Americans, CF is caused by inheriting detective recessive genes from both parents.

Detection - Symptoms include very salty sweat and a cough that doesn't go away. Blood test can identify carriers of the gene and sweat tests can diagnose an affected child.

Treatment - There is no known cure. Those with CF can be helped through special diets, lung exercises, and therapies and medication to treat symptoms.

Down Syndrome -

Description - A group of problems that may include among other conditions, mental retardation, problems of the heart, blood, and digestive system. And poor muscle tone.

Cause- Down syndrome is caused by the presence of an extra chromosome 21.

Detection - It can be detected in a fetus by aminocentesis or chronic villi sampling, or after birth by a blood test.

Treatment - Treatment includes therapy, special educational assistance, and in some cases corrective surgery. The earlier treatment begins, the better for the child.

Muscular Dystrophy

Description - There are many different types of muscular dystrophy ; all involve a progressive weakness and shrinking of the muscles. The most common form begins between the ages of two and six.

Causes - Most types of muscular dystrophy are hereditary. The most common form is transmitted by female carriers of the gene but affects only males.

Detection - The disease is recognized once symptoms appear. Genetic counselling can identify carriers.

Treatment - There is no known cure. Physical therapy can minimize the disabilities.


Description - PKY (phenylketonuria) is a condition in which the body is unable to process and use a specific protein that is present in nearly all foods. Brain damage and mental retardation can result.

Cause - A child with PKU inherits defective recessive genes from both parents.

Detection - Newborns are tested for PKU, as required by law in all states.

Treatment - There is no known cure for PKU , If it is diagnoses early, a special diet can reduce or prevent brain damage.

Sickle Cell Anemia

Description - Malformed red blood cells interfere with the supply of oxygen to all parts of the body. The symptoms include tiredness, lack of appetite, and pain. Sickle cell anemia can lead to early death.

Cause - Sickle cell anemia is caused by inheriting defective recessive genes from both parents. African Americans are more likely to have this condition than any other group.

Detection - Amniocenteses or chorionic villi sampling can identify sickle cell anemia in a fetus. Genetic counselling can identify parents who carry the gene. Blood tests can show the presence of the condition after birth.

Treatment - There is no known cure for sickle cell anemia. Medication can treat the symptoms.

Spina Bifida and Hydrocephalus

Description - In spina bifida, an incompletely formed spinal cord may lead to stiff joints. Difficulty moving legs, partial paralysis, and problems with the kidneys and urinary tract. Seventy of every 100 children with spina bifida also have hydrocephalus, in which an excess of fluid surround the brain.

Causes - The problem seems to be caused by a combination of hereditary and environmental factors. Taking a folic acid supplement during pregnancy may help reduce incidence.

Detection - Spina bifida is apparent at birth. Hydrocephalus is indicated by overly rapid growth of the head. Tests of the mother's blood, amniocentesis, and ultrasound can reveal suspected cases in a fetus.

Treatment - Corrective surgery, physical therapy, and special schooling can minimize disabilities caused by spina bifida. Hydrocephalus can be helped by surgically implanting a stunt that relieves the fluid that has built up.

Tay Sachs Disease

Description - Babies born with Tay Sachs disease lack a certain chemical in their blood that makes their bodies unable to process anduse certain fats in the brain and nerve cells. The condition leads to severe brain damage and to death, usually by the age of four.

Cause - Tay Sachs disease is caused by inheriting defective recessive genes from both parents. It is common in families of eastern European Jewish descent.

Detection - Amniocentesis or chorionic villi sampling can identify Tay Sachs disease in a fetus. Blood tests can identify those who carry the defective gene and can test for the condition after birth.

Treatment - There is no known cure for this disease. Treatment consists of doing everything possible to make the child comfortable.