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University of California San Francisco
Patient Education

FAQ: Prenatal Tests

  • What types of tests are available?
  • What if a screening test is positive?
  • Who should consider diagnostic testing?
  • What if a diagnostic test is positive?
  • Will health insurance cover testing?

What types of tests are available?

There are several options for both screening and diagnostic testing of the fetus. Screening tests have been designed to identify women who are at increased risk of having a baby with a birth defect. These tests have no risks of miscarriage, but cannot determine with certainty whether a fetus is affected. Diagnostic tests are extremely accurate at identifying certain abnormalities in the fetus, but carry a small (generally less than 1 percent) risk of miscarriage.

At UCSF, we offer options for both screening and diagnostic testing.

What if a screening test is positive?

If you have positive results on a screening test, you can discuss what this means with a genetic counselor. Options for further diagnostic testing will be explained. The decision as to whether to have invasive genetic testing is up to you.

Who should consider diagnostic testing?

There are certain guidelines regarding who might benefit from genetic counseling and prenatal testing. These include:

  • Women who will be 35 or older on their due date
  • Couples who have a child or other close relative with a birth defect
  • Pregnant women with abnormal results from a screening test designed to estimate the risk of certain birth defect
  • Pregnant women who have other concerns about the health of the fetus
  • Couples with one or both partners who carry an inherited disease such as Tay-Sachs, sickle cell anemia or cystic fibrosis.
  • Pregnant women who have been exposed to agents, such as medications, that may be harmful to the fetus
  • Women who have undergone an ultrasound test that has found abnormalities in the fetus

What if a diagnostic test is positive?

If the diagnostic test finds a genetic abnormality, the significance of such results should be discussed with experts familiar with the condition, including a medical geneticist and a genetic counselor, as well as your own doctor. Medical geneticists and genetic counselors are available at the UCSF Prenatal Diagnostic Center. Referrals and support information are available for all decisions.

Will health insurance cover testing?

Most insurance plans cover prenatal testing, especially for women over 35 years of age. You may need a referral from your primary care physician or health plan for your health insurance to cover the services. Our office staff is available to assist you with insurance questions.

UCSF Health medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.

Related clinics

Prenatal Diagnostic Center

See all five of our Northern California locations and learn more about the program.

(415) 353-3400

Related Conditions

  • Pregnancy

Recommended reading

FAQ: Amniocentesis

Amniocentesis is a prenatal diagnostic test that can detect significant chromosome problems. Find frequently asked questions regarding Amniocentesis here.

FAQ: Ashkenazi Jewish Carrier Testing

Screening is offered for eleven genetic disorders which are more common in individuals of Ashkenazi Jewish descent. Learn more and book an appointment here.

FAQ: Carrier Testing for Cystic Fibrosis

Cystic fibrosis (CF) is one of the most common life threatening genetic diseases, affecting approximately 1 out of 3,300 people. Find more info and FAQs here.

FAQ: Carrier Testing for Fragile X Syndrome

Fragile X syndrome is the most common cause of inherited intellectual disability, affecting approximately 1 in 3,600 males and 1 in 6,000 females. Learn more here.

FAQ: Carrier Testing for Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a genetic disease that results in progressive muscle weakness and paralysis. Learn more and find FAQs here.

FAQ: Cell-Free DNA Screening

Cell-free DNA screening is a test that can help detect pregnancies with Down syndrome. Learn more and find answers to FAQs.

FAQ: Chorionic Villus Sampling (CVS)

Like amniocentesis, chorionic villus sampling (CVS) can detect significant chromosome problems, such as Down syndrome. Learn more and find FAQs about CVS here.

FAQ: Choroid Plexus Cysts

The presence of isolated choroid plexus cysts (CPCs) on a second trimester ultrasound is a common cause of anxiety. Find frequently asked questions about CPCs.

FAQ: Genetic Carrier Screening

Carrier screening is an optional test to learn about genetic conditions that may affect a pregnancy. Learn more and find FAQs here.

FAQ: Prenatal Screening Tests

Prenatal screening tests can identify women at high risk for having a baby with certain types of genetic disorders or birth defects. Learn more here.

Did you know?

In 1981, UCSF's Gail Martin co-discovered embryonic stem cells in mice and coined the term "embryonic stem cell." Today, our stem cell center is one of the largest in the U.S., and our researchers there are developing new treatment strategies for a broad range of disorders, including heart disease, diabetes, neurological conditions and cancer.

Learn more
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