Genetic Testing

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

Prenatal Diagnosis Center

San Francisco, CA

415-600-6000

Cedars-Sinai

Prenatal Diagnosis Center

Los Angeles, CA

310-423-3277

UC San Diego

Fetal Care & Genetics Center

La Jolla, CA

858-657-7200

UCSF Medical Center

Prenatal Diagnostic Center

San Francisco, CA

415-476-4080

COLORADO 

Children’s Hospital

Genetic Counseling

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

Prenatal Genetics

West Hartford, CT

860-523-6464

Yale University School of Medicine

Prenatal Diagnosis

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

Genetic Counseling

Newark, DE

302-319-5680

FLORIDA

Shands at the University of Florida

Obstetrical Care

Gainsville, FL

352-265-0943

South Florida Perinatal Medicine

Special Services

South Miami, FL

305-669-9521

GEORGIA 

Emory Healthcare

Genetic Testing and Pregnancy

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

Perinatal Services

Boise, ID

208-381-3088

ILLINOIS

Rush University Medical Center

Genetic Disorder Diagnosis and Care

Chicago, IL

312-942-6298

INDIANA

Bloomington Hospital

Bloomington Genetics Clinic

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

Genetic Counseling Center

Lexington, KY

859-260-4419

St. Elizabeth Healthcare

Maternal-Fetal Center

Edgewood, KY

859-301-2445

MAINE

Eastern Maine Medical Center

Genetics Program

Bangor, ME

877-366-3662 x7559

Maine Medical Center

Barbara Bush Children’s Hospital, Division of Genetics

Portland, ME

207-828-8226

Mercy Hospital

Genetic Testing

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

Genetic Testing

Boston, MA

617-355-6000

Massachusetts General Hospital

Genetics

Boston, MA

617-726-1742

MICHIGAN

SequenomCMM Center for Molecular Medicine

Prenatal Care

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

Genetic Testing

Jackson, MS

888-815-2205

MISSOURI

Barnes Jewish Hospital

High Risk Pregnancy Services

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

Genetic Services

Helena, MT

800-447-6614

NEBRASKA

The Nebraska Medical Center

Genetic Testing

Omaha, NE

800-922-0000

NEW HAMPSHIRE

Dartmouth-Hitchcock

Prenatal Testing and Genetic Counseling

Lebanon, NH

603-650-5000

NEW JERSEY

Monmouth Medical Center

Genetic Counseling

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

Perinatal Center

New York, NY

212-746-2841

Women Gynecology and Childbirth Associates, P.C.

Genetic Testing

Rochester, NY

575-244-3430

NORTH CAROLINA

University of North Carolina

Reproductive Genetics

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

Genetic Counseling

Oklahoma City, OK

405-748-4726

OREGON

OHSU Center for Women’s Health

Perinatology Services

Portland, OR

503-494-8311

Women’s Care

Genetic Medicine

Eugene, OR

541-686-2922

PENNSYLVANIA

Maternal Fetal Medicine

State-of-the-Art Services

Harrisburg, PA

717-231-8472

Penn Medicine

Genetic Counseling

Philadelphia, PA

800-789-7366

RHODE ISLAND

Brown Alpert Medical School

Prenatal Diagnosis Center

Providence, RI

401-274-1100

Women and Infants’ Hospital

Prenatal Diagnosis Center

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

General Genetics

Sioux Falls, South Dakota

800-850-0064

TENNESSEE

Baptist Memorial Hospital for Women

Women’s Health Center

Memphis, TN

901-226-0810

The University of Tennessee Medical Center

Clinical Genetic Services

Knoxville, TN

877-882-2737

TEXAS

Baylor College of Medicine

Prenatal Genetics Clinic

Houston, TX

713-798-1090

Children’s Medical Center

Genetics

Dallas, TX

214-456-2357

Texas Tech University Health Services Center

Obstetrics & Gynecology

Amarillo, TX

806-354-5600

UTAH

Intermountain Health Care

Genetic Testing

Salt Lake City, UT

801-408-8957

The University of Utah

Obstetrics & Gynecology

Salt Lake City, UT

801-581-7647

VERMONT

University of Vermont

Vermont Regional Genetics Center

Burlington, VT

802-847-4310

VIRGINIA

Mountain View Midwives

Genetic Screening

Charlottesville, VA

434-962-0148

WASHINGTON

Seattle Children’s Hospital

Prenatal Diagnosis and Treatment

Seattle, WA

866-987-2000

WISCONSIN

Medical College of Wisconsin

Maternal Fetal Care Center

Milwaukee, WI

414-805-6624

CANADA

Health Genetic Center Corp.

Prenatal Genetics Center

Toronto, ON

1-866-362-0577