|
|
|
|
|
|
Genetic Counseling & Testing
What is a genetic counselor? Why would I see a genetic counselor? What inherited conditions suggest a consultation with a genetic counselor? What inherited diseases are most common in certain ethnic groups? What happens during a visit to a genetic counselor? What if tests show that there is a risk that we might pass on an inherited disorder? Where can I find a genetic counselor? What is a genetic counselor?A genetic counselor is a health professional specially trained to understand and interpret your genetic information and the likely genetic consequences of a pregnancy between you and your partner. Genetic counselors can help you determine if you want to pursue any genetic testing, screening, or preventative measures. A genetic counselor can help you examine and make decisions about genetic factors that might place you at higher risk for having a baby with hereditary diseases or birth defects. Genetic counselors also provide emotional support and can refer you and your family to community or state support services, if needed.Medical conditions that occur or have occurred at some time in your family can be passed on through you. Talking with a genetic counselor is often the first step toward understanding and dealing with your inherited risks. Getting this information while you are planning to get pregnant can help you prepare and make informed decisions throughout your pregnancy. Why would I want to see a genetic counselor?You may want to consider genetic counseling if you and/or your partner:
What inherited conditions suggest a consultation with a genetic counselor?You might want to talk to a genetic counselor if any of the following conditions are present on either side of your families:Achondroplasia (a form of dwarfism)** Canavan Disease* Cleft Palate Club Foot Congenital (inherited) Heart Disease Cystic Fibrosis* Diabetes Dwarfism Gaucher's Disease* Hemophilia Huntington's Chorea (a debilitating neurological condition) Mental Retardation (Fragile X Syndrome, some forms of Down Syndrome) Hydrocephalus ("water on the brain") Muscular Dystrophy Phenylketonuria Polydactylism (extra toes or fingers)** Sickle Cell disease or trait* Thalassemia* Tay-Sachs trait or disease* ** Autosomal dominant inherited pattern- only one parent has to carry the gene; the parent usually has the disease, and each child has a 50:50 chance of inheriting it *Autosomal recessive diseases- diseases that both parents carry in their genetic make-up; the child has to inherit one copy of the gene from each parent in order to get it. If a woman and her partner both carry the gene, there is a 25% chance with each pregnancy that the baby will have that disease. If only one parent carries the gene, the baby will not have the disease. What inherited diseases are most common in certain ethnic groups?Among the most common inherited diseases by ethnic group are:Sickle Cell Anemia, a blood disorder that mainly affects people of African descent Tay-Sachs Disease, a central nervous system disease that primarily affects Jewish people of Eastern European ancestry Thalassemia, a group of blood disorders that mainly affect people of Mediterranean, African, and Southern Asian descent Cystic Fibrosis, a disorder of the lungs and digestive system that mainly affects Caucasians What happens during a visit to a genetic counselor?Typically, when you go to see a genetic counselor, you will discuss background medical information about you and your partner. This may include information about your family history, your own medical history, and any previous pregnancies. Before the meeting, you can help by preparing a health family tree going back three generations. You may also be asked to bring your medical records as well as photos of any members of your family with possible genetic disorders.In some cases, the counselor may offer carrier testing, usually a blood test, to help determine if you or your partner has genes that increase the chances that you will have a child with a certain inherited disease or birth defect. After you become pregnant, there will be further genetic tests you can take to determine if your fetus has a genetic disorder. The cost of genetic counseling and testing can range from under $100 to over $2,000, depending on what tests are required, but average between $175 and $300. Some health insurance plans cover these costs, especially if your doctor recommends it. What if tests show that there is a risk that we might pass on an inherited disorder?The genetic counselor should ask about your concerns and guide you toward information on specific birth defects that will help you make informed decisions. This is a totally personal choice. Counseling enables you and your partner to educate yourselves about potential challenges and to talk through some difficult questions before a baby is even part of the equation. Counseling can also help you and your partner prepare for any medical or social needs for your baby before it is born.Where can I find a genetic counselor?Many large medical centers offer genetic counseling. Your primary health care provider can probably refer you to one. Also, this website resources to help you find a genetic counselor. Many genetic counselors become certified by the American Board of Genetic Counseling as a way to attest to their acquired knowledge and skills.What effect will all this new genetic research have on my pregnancy?The field of human genetics has seen enormous breakthroughs recently. In coming years, gene therapy -- the manipulation of genes to fight or prevent diseases -- will undoubtedly have a significant impact on the incidence (new cases) and prevalence (total cases) of genetic diseases and birth defects. The treatment or elimination of inherited diseases or birth defects could one day become a reality, but right now the field is still young.Most recent page update: 10/26/2012
Related Links
© 2013 Childbirth Connection. All rights reserved.
Childbirth Connection is a national not-for-profit organization founded in 1918 as Maternity Center Association. Our mission is to improve the quality and value of maternity care through consumer engagement and health system transformation. Childbirth Connection promotes safe, effective and satisfying evidence-based maternity care and is a voice for the needs and interests of childbearing families. |
News and Features
Listening to MothersSM III: New Mothers Speak Out (June 2013) reports on new national surveys about issues women face in the postpartum period and their views about maternity care.
Access the full report and supplementary materials  Listening to MothersSM III (May 2013) is the third national survey exploring women's experiences in pregnancy and childbirth. Commissioned by Childbirth Connection, conducted by Harris Interactive, and funded by the W.K. Kellogg Foundation, the survey polled 2,400 women who gave birth in U.S. hospitals from 2011 to 2012. Results show that medically intensive experiences are typical, and evidence-based practices are underutilized. Childbearing women need better support and knowledge to navigate their maternity care. Access the full report and supplementary materials New Report: Maternity Care and Liability Go to report and supporting materials New Report: The Cost of Having a Baby in the United States Go to report and supporting materials New Cesarean Resources: Go to Best Evidence Report Go to web pages and booklet for women 
For 95 years, Childbirth Connection has been dedicated to improving the
quality and value of maternity care for all women and their families. Learn
more about our rich history through our interactive
timeline and give
$95 for 95 in honor of
our 95th birthday. 
Childbirth Connection works to ensure that all women and babies get the best
possible maternity care. We have the collective vision and we know how to get
there, but we can't do it alone. Join the transformation
today.
The Transforming
Maternity Care website focuses on maternity care
system improvements designed to engage diverse stakeholders in quality
improvement efforts. The site offers full access to the landmark reports 2020 Vision and
Blueprint for
Action, features a Blog, and other
resources such as an Action Center, a
database of
quality improvement projects, an interactive data
center, and many more tools
for advocates and stakeholders.
Help Transform Maternity Care! |
