Genetic conditions and birth defects are conditions in a fetus that can cause physical changes and intellectual disabilities. They most often happen by chance and usually do not run in families. Down syndrome and other āgenetic conditionsā that the PNS Program screens for in a fetus are caused by extra or missing chromosomes. Chromosomes help the fetus develop and are found in every cell in the body.
If you decide to do prenatal screening, you will be asked to give two blood samples. Each sample is checked to find out if there is an increased chance your fetus has certain genetic conditions or birth defects. If there is an increased chance, your prenatal provider will talk with you about next steps. You decide if you want further genetic counseling and other follow-up services. They include an ultrasound exam and diagnostic testing.
Prenatal screening estimates the chances of certain genetic conditions and birth defects. If screening finds an increased chance of one, diagnostic testing is needed for a clear answer.
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.
Neural tube defects: This birth defect causes problems in the development of the brain or spine, like spina bifida (open spine).
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 birth defects.
Consent. If you want prenatal screening, your prenatal care provider will ask you to sign two consent forms, one for each of the two screenings. Both are important because they screen for different things. 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 two prenatal screenings. It may be in a laboratory or at your prenatal care providerās 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 twice by your prenatal care providerās 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 birth defects, this does not always mean that there is a birth defect. The PNS Program will offer you follow-up services at a state-approved Prenatal Diagnosis Center. First, you will be able to speak with a genetic counselor. 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 birth defect.
The follow-up services include:
- Genetic counseling
- Ultrasound exam
- Diagnostic testing: chorionic villus sampling or amniocentesis
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.
If you choose to participate in the California Prenatal Screening (PNS) Program and have Medi-Cal or private health insurance, they will cover your program fees, with only a few exceptions. If you get prenatal screening through the PNS Program, the follow-up services are available to you at no additional cost.
III. Prenatal Screening and Results
Prenatal screening
During your pregnancy, you will be offered 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 birth defects screened for in the PNS Program. 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)
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 10ā14 days.
Name of screening: Maternal serum alpha-fetoprotein (MSAFP)
What it screens for: Neural tube defects
- 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 7ā10 days.
Understanding prenatal screening results
Your screening results are specific to you and your current pregnancy. Your prenatal care provider will talk to you about your screening results.
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.
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.
See the PNS Program Getting an Unexpected Prenatal Screening Result web page for more information
Result type: āNo callā
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 āno callā 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.
IV. Consent or Decline Information
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.
- The PNS Program offers prenatal screening to identify these birth defects: trisomy 21 or Down syndrome, trisomy 18, and trisomy 13 (through cell-free DNA or cfDNA screening), and neural tube defects (through maternal serum alpha-fetoprotein or MSAFP screening). The PNS Program does not screen for birth defects other than these. It may screen for more in the future. Screening is not 100% accurate in finding birth defects.
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There are separate program fees for each of the two screenings, cfDNA screening and MSAFP screening. 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. If you do not have Medi-Cal or health insurance, or the fees are not covered, you must provide full payment.
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If a screening result shows an increased chance of a birth defect, you can talk to your provider and decide if you want follow-up services. Follow-up services include genetic counseling to learn about follow-up options, an ultrasound examination, and diagnostic testing, either chorionic villus sampling or amniocentesis. It is possible to have normal results after diagnostic testing.
- If your provider requests additional genetic screening or testing outside of the PNS Program, separate forms and fees will be required. The PNS Program will not handle the billing. Follow-up services will not be available through the PNS Program for the additional screening or testing.
V. Billing and Payment for Screening
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 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. 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.
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 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.
VI. Additional Information
Whether to support research is your choice
If you live in certain counties that participate in birth defects monitoring, after you have your blood drawn for your MSAFP screening, that blood sample is stored and might be used in research to prevent birth defects. The blood sample shall 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.
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 ānoā 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.
PNS Program Supporting Research web page.
The California Newborn Screening Program
The California Newborn Screening (NBS) Program routinely screens all newborns for over 80 serious but treatable genetic diseases. All newborns should have blood collected by a health care provider from 12 through 48 hours after birth using a small amount of blood taken from the babyās heel. For more information about newborn screening, ask your health care provider or visit
The California Newborn Screening Program web page
The environment can affect your health
We encounter chemicals and other substances in everyday life that may affect your developing fetus. Fortunately, there are steps you can take to reduce your exposure to these potentially harmful substances at home, in the workplace, and in the environment. Many Californians are unaware that a number of everyday consumer products may pose potential harm. Prospective parents should talk to their doctor and are encouraged to read more about this topic to learn about simple actions to promote a healthy pregnancy. At the University of California, San Francisco, the Program on Reproductive Health and the Environment produces
All That Matters brochures. These are nontechnical, patient-centered guides that provide tips and suggestions for avoiding toxic chemical exposure at home, in the workplace, and in the community.
PNS Program Reproductive Health web page
Whether to bank cord blood is your choice
As the delivery date approaches, expecting parents can consider the option of saving the baby's cord blood. Cord blood banking means collecting potentially life-saving stem cells from the umbilical cord and storing them for future use. Both private and public cord blood banks are available in California. Parents interested in saving their baby's cord blood should talk with their prenatal care provider by week 34 of pregnancy, or earlier. For more information on both public and private cord blood banking, visit or call:
Sexual orientation and gender identity survey
As part of a state-required data collection project, the PNS Program must ask for information on the sexual orientation and gender identity of program participants. This information is collected on a
Sexual Orientation and Gender Identity (SOGI) Survey. You are not required to complete the SOGI survey form. If you choose not to provide this information, it will not affect your participation in the PNS Program. If you choose to provide this information, it will not be traced to you or your prenatal screening test results. Pregnant individuals can complete a new form each time they become pregnant.
Sexual Orientation and Gender Identity (SOGI) Survey
VII. Notice of Privacy Practices
The California Prenatal Screening Programā 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.
Prenatal Screening Program Notice of Privacy Practices web page
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 thsi 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 Californiaās diverse communities. We especially want to thank the following individuals and groups for their invaluable support:
- Black Infant Health Program, Long Beach
- Dr. Jasmine Lai, Maternal and Fetal Medicine Specialist, Scripps Clinic, San Diego
- Ms. Linda Jones, Birth and Post-partum Doula; Co-Founder, Black Women Birthing Justice; Director, Community Collaboration, Mothers for Mothers Postpartum Justice, Bay Area
- March of Dimes, Greater Los Angeles
- Maternal and Child Health Access, Los Angeles