Prenatal Genetic Screening Information

Prenatal screening helps you find out how your baby is doing through pregnancy. It can check for congenital disorders (birth defects) and genetic conditions (new or inherited changes in DNA). Birth defects are physical differences with how the body works that are present before or at birth. These changes can affect any part of the body. A health care provider can detect some genetic and physical differences during pregnancy, but some can’t be detected until after birth.

Prenatal screening can be complex and confusing. Washington State Law (RCW 70.54.220) says that doctors, nurses, and midwives should provide information about prenatal screening to all pregnant persons.

There are two types of prenatal tests to assess the health of your baby: prenatal screening tests and prenatal diagnostic tests.

Prenatal cfDNA Fact Sheet for Patients (PDF)

This resource was created by the Washington State Department of Health's Prenatal Genetics Task Force to provide information and resources to patients about prenatal genetic screening, including prenatal cfDNA screening.

Make an Informed Decision

The prenatal genetic screening video series can help you understand the different screening options and decide if prenatal screening is right for you. For your convenience we have created a playlist of all eight videos. The entire series is also available in Spanish.

Screening vs. Diagnostic Tests

 
  Prenatal Screening Tests Prenatal Diagnostic Tests
What does the test detect? Assesses the risk for certain genetic or congenital conditions in the fetus Determines (to the extent possible) whether a genetic or congenital condition is present in the fetus
What type of test is it?

Minimally invasive.

An ultrasound of the fetus and/or blood draw from the mother.

More than minimally invasive.

Requires drawing fluid or tissue from the fetus or placenta.

How accurate is the test?

May not be accurate.

Tests can have higher rates of false positives.

More accurate than a prenatal screening test.

Low rates of false positives.

Conditions Detected by Prenatal Genetic Screenings

  Chromosomal Defects Neural Tube Defects Congenital Heart and other defects Carrier Screening
Screening Tests

Prenatal cfDNA (Cell-free DNA)

First trimester ultrasound for nuchal translucency (a fluid filled space behind the baby’s neck)

Maternal serum screen (a prenatal screening)

First and second trimester anatomy ultrasound

Second trimester ultrasound

Second trimester blood test (AFP)

Second trimester ultrasound Expanded carrier screening
Diagnostic Tests

Amniocentesis (a prenatal test that takes amniotic fluid from around the baby in the uterus)

Chorionic villus sampling (a prenatal test that takes a sample of tissue from the placenta to test for genetic abnormalities)

Amniocentesis Confirmatory ultrasound and fetal echocardiogram (ultrasound of the heart) Amniocentesis and confirmatory genetic testing

Resources

DOH Videos

Play individual videos below or view the whole series on our YouTube channel. View series in Spanish.

DOH Resources
Other Resources

Insurance Frequently Asked Questions for Patients

Covered Services

Is prenatal cell-free DNA screening test a covered service?

In the state of Washington, prenatal cell-free DNA screening test is generally covered for pregnant people who are considered “high-risk,” meaning they meet one or more of the following criteria:

  • over age 35 at delivery
  • previous pregnancy with chromosomal abnormalities
  • certain concerning ultrasound findings
  • abnormal serum screening

For pregnant patients of average risk, coverage varies across insurance companies and plans. Contact your insurance company for more information about what is covered under your individual plan.

If testing is not a covered service, your doctor may recommend alternate testing.

See what questions can I ask my insurance company?

Is carrier screening a covered service? What about expanded carrier screening?

Each insurance company has slightly different criteria for carrier screening. They may cover carrier screening for specific genetic conditions, particularly if you have a family history of a genetic condition or are of several high-risk ethnic groups.

For the most part, insurance companies do not consider expanded carrier screening to be “medically necessary,” or a covered service. Some providers order expanded carrier testing through companies that work directly with patients’ insurance companies to lower the cost; ask your provider if your testing will be sent to one of these labs. Otherwise, contact your insurance company for more information about what is and isn’t covered under your individual plan.

See what questions can I ask my insurance company?

Will I have to pay anything for the carrier screening tests?

If this screening test is a covered service under your insurance plan and you meet the insurance criteria, you may still pay part or all of the cost of this test.

How much you pay will depend on your remaining deductible, copay, and co-insurance, and whether the performing lab is in-network or out-of-network with your insurance.

If this testing is not a covered service under your insurance plan or you do not meet the insurance criteria, you could be responsible for the full cost of the testing.

Preauthorization Requirements

Will I need preauthorization for this testing?

Some insurance companies require preauthorization for this and other types of genetic testing, while other insurance companies do not.

Because of a recent Washington state law, some insurance companies in Washington will no longer require preauthorization for genetic testing.

Even though prior authorization may not be required, it is still important to understand your health insurance plan policy to see if testing is a covered service.

Other Frequently Asked Questions

What questions can I ask my insurance company?

Before calling, it’s important to get the procedure code (“CPT”) and diagnosis code (“ICD10”) from your provider. Here are questions to ask your insurance company:

  • Is this test/procedure covered by my insurance plan?
  • What are the criteria for coverage of testing?
  • Does this test/procedure require preauthorization?
  • What is my deductible, copay, and co-insurance? How much has been paid so far this year?
How many ultrasounds are covered by my plan?

Most insurance plans in Washington state will cover one first trimester ultrasound and a second trimester ultrasound between 16 and 22 weeks. 

If you need additional ultrasounds, we recommend calling your insurance to determine if this additional ultrasound will be covered and if there may be an associated copay or co-insurance.

Definitions

Deductible

The amount you pay for covered health care services before your insurance plan starts to pay. With a $2,000 deductible, for example, you pay the first $2,000 of covered services yourself.

After you pay your deductible, you usually pay only a copayment or coinsurance for covered services. Your insurance company pays the rest.

Copay

A fixed amount ($20, for example) you pay for a covered health care service after you've paid your deductible.

Let's say your health insurance plan's allowable cost for a doctor's office visit is $100. Your copayment for a doctor visit is $20.

  • If you've paid your deductible: You pay $20, usually at the time of the visit.
  • If you haven't met your deductible: You pay $100, the full allowable amount for the visit.

Co-insurance

The percentage of costs of a covered health care service you pay (20%, for example) after you've paid your deductible.

Let's say your health insurance plan's allowed amount for an office visit is $100 and your coinsurance is 20%.

  • If you've paid your deductible: You pay 20% of $100, or $20. The insurance company pays the rest.
  • If you haven't met your deductible: You pay the full allowed amount, $100.

Covered service

Covered service means those services, drugs, supply and equipment for which coverage benefits are available under the health care plans.

For more information, please refer to the HealthCare.gov Glossary.