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Health Information For Parents
Genetic testing can help doctors look for missing or defective genes. This information helps them know if a person, their partner, or their baby is likely to have certain medical conditions.
Genetic tests are when small samples of blood or body tissues are analyzed. Many different types of body fluids and tissues can be used. The type of genetic test needed to make a diagnosis depends on which condition a doctor checks for.
For genetic testing before birth, a blood test can screen pregnant women for some disorders. To check for others, or if the screening blood test finds a possible problem, doctors may recommend amniocentesis or chorionic villus sampling:
A doctor may recommend genetic counseling or testing for any of these reasons:
Progress in genetic testing has improved how doctors diagnose and treat some illnesses. But it has limits. Genetic tests can identify a particular problem gene. But they can’t always determine how that gene will affect the person who carries it. In cystic fibrosis, for example, finding a problem gene on
number 7 can’t predict whether a child will have serious lung problems or milder respiratory symptoms.
Also, having problem genes is only part of the story. Many illnesses develop from a mix of high-risk genes and environmental things, some of which a person can control. Someone who knows they carry high-risk genes might be able to make lifestyle changes to avoid becoming sick.
Research has identified genes that put people at risk for cancer, heart disease, psychiatric disorders, and many other medical problems. The hope is to someday develop specific types of gene therapy to prevent some diseases and illnesses.
Gene therapy is being studied as a possible way to treat conditions like cystic fibrosis, cancer, and ADA deficiency (an immune deficiency), sickle cell disease, hemophilia, and thalassemia. But some patients have had severe complications while receiving gene therapy. So the research is carefully controlled.
Genetic treatments for some conditions are a long way off. But there is still great hope that many more genetic cures will be found. The Human Genome Project, completed in 2003, identified and mapped out all genes (about 25,000) carried in our human chromosomes. The map is only the start, but it’s a very hopeful beginning.
Read the basics about genetics, including how certain illnesses, or increased risks for certain illnesses, pass from generation to generation.
Genetic counselors work with people who are either planning to have a baby or are pregnant to determine whether they carry the genes for certain inherited disorders. Find out more.
Gene therapy carries the promise of cures for many diseases and for types of medical treatment most of us would not have thoughtÂ possible.
Newborn screening tests look for health conditions that aren’t apparent at birth. Find out which tests are done.
Every parent-to-be hopes for a healthy baby, but it can be hard not to worry. Find out what tests can keep you informed of your health â and your baby’s â throughout pregnancy.
Find out what tests may be offered to you during the first trimester of pregnancy.
Find out what tests may be offered to you during weeks 13 through 26 of pregnancy.
Find out what tests may be offered to you during weeks 27 through 40 of pregnancy.
Down syndrome is a condition in which extra genetic material causes delays in the way a child develops, both physically and mentally.
Some birth defects are minor and cause no problems; others cause major disabilities. Learn about the different types of birth defects, and how to help prevent them.
Epigenetics – the idea that environmental factors can change the health not only of the people who are exposed to them, but also the health of their descendants – is something we’ll be hearing more about.
Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.
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