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Genetics/Birth Defects

Abnormal Liver Enzymes (Liver Blood Tests)
lungs are affected, you may also have lung tests. Treatments include medicines, pulmonary rehab, and extra oxygen, if needed. Severe cases may need a lung transplant. Not smoking can prevent or delay lung symptoms. NIH: National Heart, Lung, and Blood Institute...
Clinical Trials
Ataxia-telangiectasia (AT) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children,...
Amniocentesis
A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy....
Cat Scan
Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's...
Electromyogram
Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT...
Dental Care For Babies
have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life. Centers for Disease Control and Prevention...
Annulus Support (Heart Valve Disease Treatment)
A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth...
Cat Scan
A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth...
Dental Care For Babies
Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft...
Abnormal Liver Enzymes (Liver Blood Tests)
sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses and sex organs. CF causes your...
Autism Screening And Diagnosis
Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well...
Electromyogram
Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your...
Blood Transfusion
the problem with red blood cells, and sometimes transfusions. NIH: National Library of Medicine...
Biological Therapy
Genes are the building blocks of inheritance. Passed from parent to child, they contain instructions for making proteins. If genes don't produce the right...
Amniocentesis
Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A genetic counselor meets with you to discuss...
Colon Cancer Screening
lifestyle and environment also play a role. Colon cancer is an example. Genetic tests on blood and other tissue can identify genetic disorders. NIH: National Library of Medicine...
Blood Transfusion
Hemophilia is a rare disorder in which the blood does not clot normally. It is usually inherited. Hemophilia usually occurs in males. If you have hemophilia, you...
Cat Scan
Hydrocephalus is the buildup of too much cerebrospinal fluid in the brain. Normally, this fluid cushions your brain. When you have too much, though, it puts harmful...
Annulus Support (Heart Valve Disease Treatment)
National Institute of Arthritis and Musculoskeletal and Skin Diseases...
Electromyogram
Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood....
Home Pregnancy Tests (Pregnancy Test)
the infant is born, through lab or imaging tests. There is no cure for neural tube NIH: National Institute of Child Health and Human Development...
Brachytherapy
is, treatment may include surgery to remove tumors, radiation therapy, and medicines. NIH: National Institute of Neurological Disorders...
Apgar Score
Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include Tests...
Auditory Brainstem Response (Newborn Infant Hearing Screening)
Your newborn infant has screening tests before leaving the hospital. There the baby's response to sound A skin test that measures the level of oxygen...
Dental Care For Babies
Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle...
Estrogen Replacement (Hormone Therapy)
Other treatments may include sex hormones and behavior therapy. Most people with PWS will need specialized care and supervision throughout their lives. NIH: National Institute of Child Health and Human Development...
Epilepsy Treatment
Not all medicines are safe to take when you are pregnant. Some medicines can harm your baby. That includes over-the-counter or prescription drugs, herbs,...
Blood Count (Complete Blood Count)
Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last...
Care, Prenatal
Spina bifida is a neural tube defect - a type of birth defect of the brain, spine, or spinal cord. It happens if the spinal column of the fetus doesn't close...
Electromyogram
Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary...
Care, Prenatal
paralysis sets in. Even with the best of care, children with Tay-Sachs the disease. A blood test and prenatal tests can check for the gene or the...
Epilepsy Treatment
Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow....
Brachytherapy
is important. Treatment usually involves surgery or sometimes radiation therapy. The goal is to treat growths while they...