Autosomal tri​somies:

1. Trisomy 21 (Down syndrome): This genetic condition causes mild to severe intellectual disabilities and serious health problems  such as heart defects.
2. 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.
3. 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.

​Birth Defect:

• Neural tube defects: This birth defect causes problems in the development of the brain or spine, like spina bifida (open spine).

Four X and Y chromosome variations:

Miscarriage is common in pregnancies when the fetus has trisomy 18, trisomy 13, or Turner syndrome. For more information, talk to your prenatal care doctor​.

II. What to 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.

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 decline forms.

Screen. Your prenatal care provider will tell you where to go to get your blood taken 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 a birth defect​.

The follow-up services include:

If you get prenatal screening through the PNS Program, the follow-up services are available to you at no additional cost

Note: Your prenatal care provider may speak to you about getting prenatal diagnosis instead of prenatal screening. If not, you can ask them if prenatal diagnosis is recommended for you.

III. Prenatal Screening and Results

Prenatal screening

During your pregnancy, you will be offered one or two 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 genetic conditions or birth defects screened for in the PNS Program. Below are the details about the two types of screening.

Understanding prenatal screening results

It is your choice whether you want prenatal screening offered by the California Prenatal Screening (PNS) Program. Your prenatal care provider will review the prenatal screening process and answer any questions you may have so you feel ready to make your decision. Your provider will give you the consent or decline forms to sign.

If you decide to have one or both screenings offered by the PNS Program, you will sign and date a separate consent form for each of the two screenings. If you decide not to have one or both screenings offered by the PNS Program, you will sign and date a separate decline form for each of the two screenings. 

If you decide not to have one or both screenings, and your provider does not give you decline forms to sign, please request that they do so. The forms are available on the PNS Program website​. Your provider should then put your signed decline form or forms in your medical record.

Here is a quick summary of key points to remember as you consider your final decision on whether you want one or both screenings offered by the PNS Program.

V. Billing and Payment for Screening

​Starting in 2024, the program fees for the two different screenings provided by the California Prenatal Screening (PNS) Program are the following:

The fees cover 1) the cost of the screening, and 2) follow-up services at a state-approved Prenatal Diagnosis Center if there is a screening result showing an increased chance of a birth defect. MediCal and private insurance must cover all program fees, with only a few exceptions for self-insured employers and out-of-state health plans.

You should provide your Medi-Cal number or insurance information at the time of your prenatal screening. The PNS Program mails a bill and an insurance information form to you to complete and return if your Medi-Cal or insurance information is not provided when the screenings are ordered. The PNS Program will not be involved in the billing of prenatal screening or testing outside of the PNS Program. Note the following:

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 and comply with this Notice of Privacy Practice.

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. This notice describes how personal and medical information about you may be used and disclosed and how you can get access to this information. Please review it carefully.

Acknowledgment and Thanks

This booklet was developed in close collaboration with patients, providers, community leaders, and staff who have generously volunteered their time to provide input and feedback into this booklet. Through the feedback, the Prenatal Screening Program has been able to design the patient booklet to be culturally and linguistically appropriate to meet the needs of California’s diverse communities. We especially want to thank the following individuals and groups for their invaluable support: