Genetic Testing Gives Parents Important Information
The color of your eyes, hair, and skin are all determined by your genes, which are tiny pieces of genetic material critical for body development and function. Genes are passed from one generation to the next, controlling such traits as physical appearance, as well as the tendency toward certain diseases.
It wasn’t long ago that the birth of a baby with Down syndrome took parents completely by surprise. Today, however, because of new scientific research, many genes have been identified, including those responsible for certain disorders. These genes can now be detected through various medical examinations, called genetic testing, which can provide important information about a person’s health, or about the health of an unborn child.
What is Genetic Testing?
Genetic testing examines a person’s DNA molecules looking for mutations or the presence of certain defective genes. Genetic testing may also look for gene products like enzymes and other proteins, which may signal the presence of a particular gene.
What is Genetic Testing Used For?
Currently, genetic testing is used for five basic reasons:
- If there is a family history of one specific disease, and an individual wants to know if he/she is a carrier.
- If an individual shows symptoms of a particular genetic disorder, and a physician wants to know if he/she carries the gene for that disorder.
- Parents are concerned about passing on a genetic problem to their children, and want to be screened before becoming pregnant.
- Parents want to know if an unborn child may have a genetic disease or disorder.
- To identify a person who’s been a victim of a major accident, disaster, or war; to identify paternity; or for identification in criminal investigations.
Genetic Testing for Preventing Birth Defects
Sometimes parents who want to have a child are concerned about passing on an inherited illness. Other times they may already have a child with a genetic disease, and may wonder if their genes caused it. In these cases, genetic testing can let them know if one or both are carriers of the disease, even though they may not be showing symptoms. Such testing is called “Carrier Identification,” and includes tests for cystic fibrosis, Tay-Sachs disease, and sickle-cell anemia. Results can help parents more accurately evaluate the risks and possibly take steps to reduce them.
Prenatal Testing that Includes Genetic Testing
Genetic testing has become a common part of routine prenatal testing, and is used to determine the risk of genetic disorders at various times during pregnancy. Though genetic testing isn’t helpful in preventing birth defects, it can alert parents to the presence of a birth defect, preparing them for the additional care a child may need at birth.
Prenatal testing that involves genetic testing includes the following:
- Ultrasound: Though often used to confirm the heartbeat and detect the gender of an unborn child, ultrasounds can also scan for neck thickness, which may be an indication of Down syndrome. Combined with a blood test, the detection rate is about 90 percent.
- Newborn Screening: These tests may be performed one or more times during pregnancy, and involve taking blood from the mother and examining it for “markers” that may indicate Down syndrome, trisomy 18, neural tube birth defects, and spinal cord defects. If the screening is performed during the first and second trimesters and the results combined, the accuracy is improved. These screening tests, however, can tell parents only the risk of a genetic disease or syndrome—they can’t diagnose them for certain.
- Chorionic villus sampling (CVS): For this test, a doctor inserts a needle into the womb through the abdomen or vagina and removes a tissue sample from the placenta. This sample is then examined to identify genetic disorders. CVS is a diagnostic tests, and is typically more accurate than screening tests, though it is also more invasive.
- Amniocentesis: The doctor inserts a needle into the mother’s abdomen to retrieve a sample of amniotic fluid. This fluid is then tested for genetic abnormalities. Like CVS, amniocentesis is more accurate at detecting problems than screening.
- Cordocentesis (or Percutaneous Umbilical Cord Blodo Sampling, PUBS): The doctor inserts a needle into the umbilical cord to take a small sample of blood, which is then examined for genetic disorders like Down syndrome and other potential birth defects.
Seeking the Advice of a Genetic Counselor
Genetic testing can provide important information about the health of an unborn child, but results can also be difficult for parents to sort through. If there is a risk of Down syndrome, what steps do parents take? What if early screening shows the potential for sickle cell anemia?
A genetic counselor is a medical professional that guides parents through the process of dealing with all the complications that may arise from genetic testing. He or she can help parents more clearly understand what the results mean, and provide them with information that will help them make critical decisions. A genetic counselor can also help couples decide whether or not to undergo genetic testing prior to pregnancy, help them evaluate the risks to an unborn child, and prepare them for dealing with the challenges of raising a child with a genetic disorder.
Genetic Testing Facilities
Though prenatal testing that includes genetic testing has become routine in most healthcare facilities, there are certain ones that specialize in genetics and can offer parents high quality, comprehensive genetic information on themselves and their unborn children. Following are a few of those facilities
ALABAMA
UAB Medicine
Prenatal Genetic Counseling and Testing
Birmingham, AL
800-UAB-8816
ARIZONA
The Fetal & Women’s Center of Arizona
Diagnostic and Screening Tests
Glendale, AZ
602-942-6800
CALIFORNIA
California Pacific Medical Center
San Francisco, CA
415-600-6000
Cedars-Sinai
Los Angeles, CA
310-423-3277
UC San Diego
La Jolla, CA
858-657-7200
UCSF Medical Center
San Francisco, CA
415-476-4080
COLORADO
Children’s Hospital
Aurora, CO
720-777-1234
University of Colorado Hospital
Genetic Testing & Genetic Counseling
Aurora, CO
720-848-0000
CONNECTICUT
CT Fertility
First Trimester Prenatal Genetic Screening
Bridgeport, CT
203-373-1200
University of Connecticut Health Center
West Hartford, CT
860-523-6464
Yale University School of Medicine
New Haven, CT
203-785-2661
DELAWARE
Bayhealth Medical Center
Bayhealth Maternal Fetal Medicine Associates Services
Dover, DE
302-674-4700
Delaware Center for Maternal-Fetal Medicine
Newark, DE
302-319-5680
FLORIDA
Shands at the University of Florida
Gainsville, FL
352-265-0943
South Florida Perinatal Medicine
South Miami, FL
305-669-9521
GEORGIA
Emory Healthcare
Atlanta, GA
404-712-2000
HAWAII
Kapi’olani Medical Center for Women & Children
Fetal Diagnostic Center & Genetic Counseling
Honolulu, HI
808-983-8559
IDAHO
St. Luke’s Maternal Fetal Medicine
Boise, ID
208-381-3088
ILLINOIS
Rush University Medical Center
Genetic Disorder Diagnosis and Care
Chicago, IL
312-942-6298
INDIANA
Bloomington Hospital
Bloomington, IN
812-336-6821
IOWA
Iowa Department of Public Health
Iowa Neonatal Metabloic Screening Program
Des Moines, IA
515-281-7689
KENTUCKY
Central Baptist Hospital
Lexington, KY
859-260-4419
St. Elizabeth Healthcare
Edgewood, KY
859-301-2445
MAINE
Eastern Maine Medical Center
Bangor, ME
877-366-3662 x7559
Maine Medical Center
Barbara Bush Children’s Hospital, Division of Genetics
Portland, ME
207-828-8226
Mercy Hospital
Portland, ME
207-879-3000
MARYLAND
Franklin Square Hospital Center
The Maternal-Fetal Medicine Center
Baltimore, MD
888-74-OBTLC
Gene D DNA Diagnostic Experts
Prenatal Genetic Testing Services
Gaithersburg, MD
301-519-2100
Johns Hopkins Medicine
Prenatal Diagnosis and Treatment Center
Baltimore, MD
410-955-3091
MASSACHUSETTS
Children’s Hospital Boston
Boston, MA
617-355-6000
Massachusetts General Hospital
Boston, MA
617-726-1742
MICHIGAN
SequenomCMM Center for Molecular Medicine
Grand Rapids, MI
877-821-7266
MINNESOTA
Hennipin County Medical Center
Clinical Genetic Counseling Services
Minneapolis, MN
612-873-3000
MISSIPPI
University of Mississippi Health Care
Jackson, MS
888-815-2205
MISSOURI
Barnes Jewish Hospital
St. Louis, MO
314-867-3627
Washington University Medical Center
Obstetrics and Gynecology/Ultrasound and Genetic Diagnosis
St. Louis, MO
314-454-8181
MONTANA
Shodair Children’s Hospital
Helena, MT
800-447-6614
NEBRASKA
The Nebraska Medical Center
Omaha, NE
800-922-0000
NEW HAMPSHIRE
Dartmouth-Hitchcock
Prenatal Testing and Genetic Counseling
Lebanon, NH
603-650-5000
NEW JERSEY
Monmouth Medical Center
Long Branch, NJ
732-923-6526
Saint Peter’s University Hospital
Institute for Genetic Medicine
New Brunswick, NJ
732-745-6659
NEW YORK
Montefiore Medical Center
Reproductive Genetics & Prenatal Genetic Testing
New York, NY
718-405-8200
St. Luke’s Roosevelt Hospital Center
Department of Obstetrics & Gynecology
New York, NY
212-523-BABY
Weill Cornell Medical College
New York, NY
212-746-2841
Women Gynecology and Childbirth Associates, P.C.
Rochester, NY
575-244-3430
NORTH CAROLINA
University of North Carolina
Chapel Hill, NC
919-843-6094
OHIO
Cincinnati Children’s
Molecular Genetics Laboratory Services
Cincinatti, OH
800-344-2462
OKLAHOMA
The Perinatal Center of Oklahoma
Oklahoma City, OK
405-748-4726
OREGON
OHSU Center for Women’s Health
Portland, OR
503-494-8311
Women’s Care
Eugene, OR
541-686-2922
PENNSYLVANIA
Maternal Fetal Medicine
Harrisburg, PA
717-231-8472
Penn Medicine
Philadelphia, PA
800-789-7366
RHODE ISLAND
Brown Alpert Medical School
Providence, RI
401-274-1100
Women and Infants’ Hospital
Providence, RI
401-453-7510
SOUTH CAROLINA
MUSC Health Women’s Services
Genetic Counseling and Prenatal Genetic Testing
Charleston, SC
843-792-1414
SOUTH DAKOTA
Sanford Children’s Specialty Clinic
Sioux Falls, South Dakota
800-850-0064
TENNESSEE
Baptist Memorial Hospital for Women
Memphis, TN
901-226-0810
The University of Tennessee Medical Center
Knoxville, TN
877-882-2737
TEXAS
Baylor College of Medicine
Houston, TX
713-798-1090
Children’s Medical Center
Dallas, TX
214-456-2357
Texas Tech University Health Services Center
Amarillo, TX
806-354-5600
UTAH
Intermountain Health Care
Salt Lake City, UT
801-408-8957
The University of Utah
Salt Lake City, UT
801-581-7647
VERMONT
University of Vermont
Vermont Regional Genetics Center
Burlington, VT
802-847-4310
VIRGINIA
Mountain View Midwives
Charlottesville, VA
434-962-0148
WASHINGTON
Seattle Children’s Hospital
Prenatal Diagnosis and Treatment
Seattle, WA
866-987-2000
WISCONSIN
Medical College of Wisconsin
Milwaukee, WI
414-805-6624
CANADA
Health Genetic Center Corp.
Toronto, ON
1-866-362-0577
