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Prenatal screening program

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Individuals and Families FAQ

Frequently Asked Questions on the California Prenatal Screening Program

  1. What is prenatal screening?
  2. What are birth defects and how common are they?
  3. What does the California Prenatal Screening Program do?
  4. Can you decide whether to get prenatal screening or not?
  5. What can you expect from the California Prenatal Screening Program?
  6. What birth defects are screened for?
  7. What prenatal screenings are available?
  8. How much does the California Prenatal Screening Program cost?
  9. What could your prenatal screening results be?
  10. How is prenatal screening different from diagnostic testing?
  11. What services are available after prenatal screening?
  12. What happens to your blood sample after prenatal screening?
  13. How is your privacy protected?
  14. Is "birth defect" the correct term to use?

1. What is prenatal screening?

 Some expecting parents want to know as much as they can about their fetus (developing baby) during pregnancy. Prenatal screening is a way to check on the fetus during pregnancy for genetic conditions or birth defects. 

Pregnant individuals who decide to do prenatal screening through the California Prenatal Screening Program will be asked to give two blood samples. Each sample is checked to find out if there is an increased chance the fetus has certain genetic conditions or birth defects. If prenatal screening finds an increased chance of a genetic condition​ or​ birth defect, it does not always mean that the fetus has a genetic condition or birth defect. Diagnostic testing is then needed for a clear answer. 

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2. What are birth defects and how common are they?

Genetic conditions and birth defects can affect the health and development of the fetus. Genetic conditions and birth defects sometimes happen by chance, or they may be passed down in families. Down syndrome and other genetic conditions that the PNS Program screens for in a fetus are caused by extra or missing chromosomes. Each Pregnancy has a 3 to 4 in one hundred chance for a genetic condition or birth defect.​​​

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3. What does the California Prenatal Screening Program do?

The California Prenatal Screening Program is a statewide program offered by prenatal care providers to all pregnant individuals in California. Prenatal screening uses a pregnant individual's blood samples to screen for certain genetic conditions and birth defects in their fetus. Individuals with a fetus found to have an increased chance of one of those genetic conditions​ or birth defects are offered genetic counseling and other follow-up services through state-contracted Prenatal Diagnosis Centers.

For visit the Education Resources for Individuals and Families web page​ for more information.

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4. Can you decide whether to get prenatal screening or not?

Yes. You decide if you want prenatal screening through the California Prenatal Screening Program. Your prenatal care provider should discuss this information and your choice with you early in your pregnancy. Three out of four pregnant individuals in the state choose to get prenatal screening, and one out of four choose not to. You could choose not to get prenatal screening. 

Another option is to choose prenatal diagnosis instead of prenatal screening. Your prenatal care provider may speak to you about this option. Prenatal diagnosis is speaking to a genetic counselor, getting an ultrasound exam, or diagnostic testing. without first getting prenatal screening. You can ask your prenatal care provider if prenatal diagnosis is recommended for you.

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5. What can you expect from the California Prenatal Screening Program?

DISCUSS. Your prenatal care provider will offer you prenatal screening through this program. It is not required. The prenatal screening will help you learn if your fetus has an increased chance of certain genetic conditions or birth defects. If you choose to participate in the California Prenatal Screening (PNS) Program and have Medi-Cal or private health insurance, they will cover the fees for this screening, with only a few exceptions. The fees are $344 and $85 for the screenings (as of July 2024). 

CONSENT. If you want prenatal screening, your prenatal care provider will ask you to sign consent form(s), one for each of the two screenings (cell-free DNA and maternal serum alpha-fetoprotein). Both are important because they screen for different conditions. If you do not want prenatal screening, you will need to sign the decline forms.

SCREEN. Your prenatal care provider will tell you where to go to get your blood collected for the prenatal screening(s). Blood collection may be in a laboratory or at your prenatal care provider’s office. For each screening, a staff member will take a small amount of blood from your arm and send it to a laboratory.

 COMMUNICATE. You will be contacted by your prenatal care provider’s office to let you know your cell-free DNA and maternal serum alpha-fetoprotein screening results. ​​

FOLLOW-UP SERVICES. If either screening result shows your fetus has an increased chance of one of the genetic conditions or birth defects, this does not always mean that there is one. The PNS Program will offer you follow-up services at a state-approved Prenatal Diagnosis Center, where you will first be able to speak with a genetic counselor and you will be offered a detailed ultrasound exam of your fetus. Then, you decide if you want a diagnostic test to find out if your fetus has a genetic condition or birth defect.​

The follow-up services include:

  • Genetic counseling
  • Ultrasound exam
  • Diagnostic testing: chorionic villus sampling or amniocentesis

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6. Which genetic conditions and birth defects are screened for?

The California Prenatal Screening Program can detect these four types of birth defects
  • Trisomy 21 (Down syndrome): This genetic condition causes mild to severe intellectual disabilities and serious health problems  such as heart defects.
  • Trisomy 18 (Edwards syndrome): This genetic condition causes severe intellectual disabilities and serious health problems. Most pregnancies with trisomy 18 end on their own through miscarriage.
  • Trisomy 13 (Patau syndrome): This genetic condition causes severe intellectual disabilities and serious health problems. Most pregnancies with trisomy 13 end on their own through miscarriage.
  • Turner syndrome:  This is a genetic condition that can cause mild developmental delays, learning disabilities, heart defects, and ​infertility.​
  • Klinefelter syndrome: Klinefelter syndrome, also called XXY, can cause mild ​developmental delays, learning disabilities, and infertility.​
  • Trisomy X: This genetic condition can cause mild developmental delays and learning disabilities. The signs can vary from person to person. Some people have no ​obvious signs.​​
  • XYY syndrome: XYY can cause mild developmental delays and learning disabilities. The signs can vary from person to person. Some people have no ​obvious signs.​
  • Neural tube defects: This birth defect causes problems in the development of the brain or spine, like spina bifida (open spine).​

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7. What prenatal screenings are available?

During your pregnancy, you will be offered one or  screenings as part of the California Prenatal Screening (PNS) Program. Each screening requires you to give a blood sample. Each screening estimates the chances of your fetus having one of the birth defects screened for in the state program. If you decide to get prenatal screening, both screenings are recommended since they screen for different conditions. Below are the details about the two types of screening.

Name of screening: Cell-free DNA (cfDNA)

What it screens for: Genetic Conditions
  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Turner syndrome
  • Klinefelter syndrome
  • Trisomy X
  • XXY syndrome
When to get it: From 10 weeks to the first day of 21 weeks of pregnancy. cfDNA screening can be done after 20 weeks but the follow-up services are then more limited. Results are available in 10-14 days.

Name of screening: Maternal serum alpha-fetoprotein (MSAFP)

What it screens for: Neural tube defects (most common examples are below)
  • Open spina bifida (opening in the spine)
  • Anencephaly (missing parts of brain or skull)
When to get it: From 15 weeks through the first day of 21 weeks of pregnancy. Results are available in 7-10 days.

8. How much does the California Prenatal Screening Program cost?

Medi-Cal and private insurance must cover all program fees, with only a few exceptions for self-insured employers and out-of-state health plans. Starting in 2022, the program fees for the two different screenings provided by the California Prenatal Screening (PNS) Program are the following:
  • $232 for cell-free DNA (cfDNA) screening
  • $85 for maternal serum alpha-fetoprotein (MSAFP) screening
The cfDNA screening fee will increase to $344 on July 1, 2024.​​
The fees cover 1) the cost of the screening, and 2) follow-up services (genetic counseling, ultrasound exam, or diagnostic testing) at a state-approved Prenatal Diagnosis Center if there is a screening result showing an increased chance of a birth defect. 
Note the following:
  • The PNS Program fee does not cover blood draw charges
  • The PNS Program will pay for follow up services at a state-approved Prenatal Diagnosis Center only if prenatal screening provided through the PNS Program finds an increased chance of a birth defect in your fetus
  • The PNS Program does not pay for any other medical services after diagnostic testing 

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9. What could your prenatal screening results be?

Your screening results are specific to you and your current pregnancy. Your prenatal care provider will talk to you about your screening results.
  1. Result type: No increased chance of birth defects (most common result) - The chances of the fetus having any of the screened birth defects are low, but not zero. The PNS Program does not offer follow-up testing or services for this result. This result does not guarantee that there are no birth defects. No prenatal screening can detect 100% of birth defects.
  2. Result type: “No call” - Sometimes there is not enough genetic material in your blood, or the blood is drawn too early or too late in the pregnancy, to get a clear screening result. Your provider will communicate why you have a “no call” result and will tell you if screening can be repeated. There are a few different reasons why there would be no results, so your provider will be your guide.
  3. Result type: Increased chance of birth defects - The chances of the fetus having one of the screened birth defects are higher than usual. The PNS Program offers follow-up testing and services for this result. This result does not always mean that the fetus has a birth defect. Diagnostic testing can help find out if a birth defect exists.

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10. How is prenatal screening different from diagnostic testing?

Prenatal screening estimates the chances of certain​​ genetic conditions or  birth defects. If screening finds an increased chance of a genetic condition or birth defect, diagnostic testing is needed for a clear answer. Diagnostic testing includes chorionic villus sampling (CVS) and amniocentesis.

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11. What services are available after prenatal screening?

If screening finds an increased chance of a birth defect, diagnostic testing is needed for a clear answer. Diagnostic testing includes chorionic villus sampling (CVS) and amniocentesis.
These are the follow up services provided:
  • Genetic counseling 
  • Ultrasound exam
  • Diagnostic testing: chorionic villus sampling or amniocentesis

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12. What happens to your blood sample after prenatal screening?

What happens to your blood sample after prenatal screening depends on the choice you make if you decide to participate in MSAFP screening through the state program. You can request that your blood sample not be used for research when your prenatal care provider orders the MSAFP screening. You can do this by asking your provider to check the required box when ordering the screening. If you say “no” to using your blood sample for research, the sample will be destroyed after your screening result is complete and reported to your provider. Saying no to research will not affect your health care or screening results in any way. 

If you get your blood drawn for MSAFP screening, but do not say no to research and you live in certain counties that participate in birth defects monitoring, that blood sample is stored and might be used in research to prevent birth defects. The blood sample will be held confidential without any personal identifying information and may be released to help approved researchers study the causes of birth defects and other childhood health problems.

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13. How is your privacy protected?

The Genetic Disease Screening Program (GDSP) is defined as a health care provider under the Health Insurance Portability and Accountability Act (HIPAA). HIPAA is a federal law that created rules to protect sensitive patient health information from being disclosed without a patient's consent or knowledge. GDSP is covered under HIPAA and is required to distribute this Notice of Privacy Practice (NPP, effective as of July 2015).

The California Prenatal Screening (PNS) Program is under GDSP as part of the California Department of Public Health (CDPH). The collection and exchange of personal health information between covered providers for the purpose of treatment, payment, or health care operations with GDSP and its agents in connection with the PNS Program is permitted by HIPAA and required by state law without special authorization or business associate agreements.  Please see the Notice of Privacy Practices web page.​

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