Medical Dictionary
A Medical Dictionary of Medical Terminology
  

chorionic

Prenatal Testing

Prenatal testing provides information about your baby's health before he or she is born. Some routine tests during pregnancy also check on your health. At your first prenatal visit, your health care provider will test for a number of things, including problems with your blood, signs of infections, and whether you are immune to rubella (German measles) and chickenpox.

Throughout your pregnancy, your health care provider may suggest a number of other tests, too. Some tests are suggested for all women, such as screenings for gestational diabetes, Down syndrome, and HIV. Other tests might be offered based on your:

There are two types of tests:

It is your choice whether or not to get the prenatal tests. You and your health care provider can discuss the risks and benefits of the tests, and what kind of information the tests can give you. Then you can decide which ones are right for you.

Dept. of Health and Human Services Office on Women's Health

Spinal Muscular Atrophy

What is spinal muscular atrophy (SMA)?

Spinal muscular atrophy (SMA) is a group of genetic diseases that damages and kills motor neurons. Motor neurons are a type of nerve cell in the spinal cord and lower part of the brain. They control movement in your arms, legs, face, chest, throat, and tongue.

As the motor neurons die off, your muscles start to weaken and atrophy (waste away). The muscle damage gets worse over time and can affect speaking, walking, swallowing, and breathing.

What are the types of spinal muscular atrophy (SMA) and what are their symptoms?

There are different types of SMA. They are based on how serious the disease is and when the symptoms start:

What causes spinal muscular atrophy (SMA)?

Most types of SMA are caused by a change in the SMN1 gene. This gene is responsible for making a protein that the motor neurons need to be healthy and to function. But when part of the SMN1 gene is missing or abnormal, there isn't enough protein for the motor neurons. This causes the motor neurons to die off.

Most people have two copies of the SM1 gene - one from each parent. SMA normally only happens when both copies have the gene change. If only one copy has the change, there usually aren't any symptoms. But that gene could be passed down from parent to child.

Some of the less common types of SMA may be caused by changes in other genes.

How is spinal muscular atrophy (SMA) diagnosed?

Your health care provider may use many tools to diagnose SMA:

Parents who have a family history of SMA may want to do a prenatal test to check to see whether their baby has an SMN1 gene change. An amniocentesis or in some cases a chorionic villi sampling (CVS) is used to get the sample for testing.

In some states, genetic testing for SMA is part of newborn screening tests.

What are the treatments for spinal muscular atrophy (SMA)?

There is no cure for SMA. Treatments can help manage symptoms and prevent complications. They may include:

NIH: National Institute of Neurological Disorders and Stroke

Popular Medical Dictionary Searches: Ibuprofen  Aspirin  Dementia  Breast Cancer  Fibrosis  Headache  Mesothelioma  Migraine

Medical Dictionary is a free resource to look up medical terms. Trademarks belong to their respective owners.
Copyright 1999 - 2024 Medical Dictionary Inc. All Rights Reserved. Privacy Policy. Medical Disclaimer.