Below is a checklist providers can use for getting grounded in the PNS Program.

On September 19, 2022, the California Prenatal Screening (PNS) Program launched its revised program. Cell-free DNA (cfDNA) is now the primary screening test for trisomy 21, trisomy 18, and trisomy 13, replacing biochemical screening for trisomies 21 and 18.

cfDNA screening is available starting at 10 weeks 0 days and can be done throughout pregnancy. However, the PNS Program recommends that cfDNA screening take place from 10 weeks 0 days through 21 weeks 0 days so that all follow-up services can be available to individuals determined to be high risk. cfDNA screening also gives patients the option to find out the sex of the fetus. Providers can choose this option by checking a box when ordering screening. There is no additional cost for finding out the fetal sex.

In addition to cfDNA, maternal serum alpha fetoprotein (MSAFP) screening for neural tube defects is still offered, now from 15 weeks 0 days through 21 weeks 0 days of gestational age. 

The PNS Program continue to provide follow-up genetic counseling and diagnostic services for participants with screen-positive results for the three trisomies or neural tube defects at state-approved Prenatal Diagnosis Centers.

Within the PNS Program, providers choose to work with one of the three state-contracted labs. They are Natera, Quest Diagnostics, and Revvity. They screen for trisomy 21, trisomy 18, and trisomy 13 and neural tube defects (what is on the state’s screening panel). The revised PNS Program screening panel does not currently include sex chromosome anomalies or microdeletions. See questions and answers below for more details on this.

Another change is the expanded use of the CalGenetic Portal for ordering screening and getting results. See questions and answers below for more details on this.

An additional change is regarding nuchal transluchency ultrasound. Nuchal translucency ultrasounds are still recommended as the most accurate dating method of gestational age. However, the PNS Program no longer requires a nuchal translucency measurement to receive a preliminary risk assessment for fetal chromosomal abnormalities with a first trimester biochemical screening test. The previous policy to authorize follow-up services at a state-contracted Prenatal Diagnosis Center with a large NT > 3.0 mm, regardless of the biochemical screening result, has ended. 

However, if the cfDNA or MSAFP screening result is positive, and the patient goes to a state-contracted Prenatal Diagnosis Center and the fetus is identified to have a large NT > 3.0 mm, and the patient chooses to have an amniocentesis, the patient can choose to have a karyotype or microarray.

cfDNA screening through the revised PNS Program provides these benefits compared to biochemical screening:

1. cfDNA provides higher sensitivity and lower false-positive rates, resulting in fewer screen-positive cases referred unnecessarily for follow-up diagnostic services;
   
2. cfDNA can provide results for one additional aneuploidy (trisomy 13);
3. the gestational age window will allow screening as early as 10 weeks of gestation; and
4. prenatal providers will have a choice of more than one state-contracted cfDNA laboratory to conduct screening for patients.

Moving to cfDNA screening makes high-quality prenatal screening accessible for all pregnant individuals in California for the three most common autosomal trisomies at an affordable price.

In the PNS Program, the Genetic Disease Screening Program has contracted with the following three cfDNA laboratories only:

• Natera 
• Quest Diagnostics 
• Revvity​
  

Natera and Quest Diagnostics completed the required onboarding process and are available for providers to choose in the PNS Orders Application on the CalGenetic Portal. Revvity became an available choice for providers on March 20, 2023. See below or visit the PNS Program Information for Providers web page for specific cfDNA laboratory instructions.

Providers may send their patient samples to any of the three state-contracted cfDNA laboratories for the same program participation fee of $232.00.

Screening result communications and follow-up services will be standardized regardless of which state-contracted laboratory is selected. 

Kaiser providers should check with their internal systems to find out how ordering screening tests or result communications differs from what is summarized here.

cfDNA Labora​tory Instructions and FAQs

​Natera

• cfDNA Laboratory Instructions: Natera (PDF)
  
• cfDNA Laboratory Additional Information: Natera (PDF)
  

Quest

• cfDNA Laboratory Instructions: Quest Diagnostics (PDF)
  
• cfDNA Laboratory Additional Information: Quest Diagnostics (PDF)
  

Revvity

• cfDNA Laboratory Instructions: Revvity (PDF)
  
• cfDNA Laboratory Additional Information: Revvity (PDF)​​
  

Yes, patient can opt to have fetal sex reported. Clinicians should talk to their patient to find out if they want fetal sex disclosed. Depending on the patient’s decision, clinicians should select the appropriate checkbox when ordering a cfDNA screening test. There is no additional cost for fetal sex reporting.

No. The revised PNS Program screening panel does not currently include sex chromosome anomalies (SCAs) or microdeletions. Providers can separately order these and other screenings, including carrier screenings, outside of the PNS Program screening panel. The PNS Program will add SCAs to its screenig panel in 2024.

Yes. Certain of the three state-contracted laboratories will allow providers to order additional screening for sex chromosome anomalies or microdeletions using the same blood specimen taken from a patient through the revised PNS Program. 

Even though the same blood specimen may be used, the additional screening at the state-contracted laboratory will technically be independent of the revised PNS Program. It will require the creation of a separate test request process. The laboratory conducting those tests will bill separately for these services.

Nuchal translucency ultrasounds are still recommended as the most accurate dating method of gestational age. However, starting September 19, 2022, the PNS Program will no longer require a nuchal translucency measurement to receive a preliminary risk assessment for fetal chromosomal abnormalities with a first trimester biochemical screening test.

The previous policy to authorize follow-up services at a state-contracted Prenatal Diagnosis Center with a large NT > 3.0 mm, regardless of the biochemical screening result, has ended.

However, if the cfDNA or MSAFP screening result is positive, and the patient goes to a state-contracted Prenatal Diagnosis Center and the fetus is identified to have a large NT > 3.0 mm, and the patient chooses to have an amniocentesis, the patient can choose to have a karyotype or microarray.

Yes. The revised PNS Program only offers cfDNA screening for singleton and twin gestations. Patients with multiples of three or more, or twin gestations with a demise, are not candidates for the PNS Program. Similarly, patients with fetal demise are not candidates for the PNS Program.

Patients that are not candidates according to the PNS Program’s cfDNA screening criteria should not participate in the PNS Program. For these patients who are not candidates for the PNS Program, their prenatal care provider may seek alternative options for the care of these patients, such as referral to a Maternal Fetal Medicine specialist.

Cell-free DNA (cfDNA) screening is now established as the most reliable and accurate prenatal screening method for the three most common autosomal aneuploidies: trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. Due to the improved screening performance of cfDNA, which includes lower false positive rates, the state decided to stop using biochemistry to screen for fetal chromosome abnormalities. Maternal serum alpha fetoprotein (MSAFP) screening will continue to be offered to screen for neural tube defects (NTDs) in the second trimester.

Yes. PNS case coordinators support prenatal screening providers with program implementation and case management. 

PNS case coordinator offices are located throughout California. Each prenatal screening provider is assigned a PNS case coordinator by zip code. The prenatal screening provider should rely on the PNS case coordinator as the primary source of information regarding the PNS Program. The PNS case coordinator’s phone number is included on every result mailer.

A PNS case coordinator will contact a provider office when there is missing or incomplete information on a screening test order or to verify information for certain results such as positives, samples drawn too early or too late, or any non-negative screening test result.

Yes. The CalGenetic Portal is live. It is accessed at https://calgenetic.cdph.ca.gov/. Providers should only use this url address and check that any previously set up bookmarks point to this address only. 

Authenticated users can already obtain secure online access to do the following:

1) View patient prenatal screening results. The PNS Program will continue to mail results but accessing them on the CalGenetic Portal is quicker and easier for providers.

2) Submit Outcome of Pregnancy forms. These data are used to evaluate screening performance, and all data requests should be now entered on the CalGenetic Portal.

3) Order Screening Tests. A new electronic order requisition application on the CalGenetic Portal is now available. The CalGenetic Portal is used to order both the cfDNA screen and the MSAFP screen. Users must select the correct screen (cfDNA or MSAFP) when submitting an order. Each screen has a different ordering process. Providers will be required to obtain a signed patient consent document for each both screening tests, which must accompany the sample sent to the testing laboratory.

All physicians and their delegates are encouraged to log into the CalGenetic Portal and set up an account now. See the next question and answer in this FAQ or visit the PNS Program Portal Resources web page for a chart on who can access the Portal.

The chart below shows access to the CalGenetic portal, by profession. Note: Delegates are all staff members, including office and medical assistants, that a licensed clinician (MD/DO) allows access to the CalGenetic Portal. 

Visit the PNS Program Portal Resources web page or CalGenetic YouTube playlist to view videos that provide step-by-step instructions for using the CalGenetic Portal to create a profile and view results for the PNS Program. The videos explain how users can do the following:

Starting September 19, 2022, providers should order both the cfDNA and MSAFP screening tests using the CalGenetic Portal. 

After a screening order is electronically submitted on the CalGenetic Portal, providers will need to print a PNS Program “Consent and Order Confirmation” for each cfDNA and MSAFP screen, respectively. The “Consent and Order Confirmation” will need to be printed on PNS Program label stationery provided at no cost. 

The stationery can be ordered now on the PNS Program supplies order web page. The PNS Program label stationery contains four peel-off unique barcode number labels that should be affixed to the required sample collection tubes and to the required paperwork for cfDNA screening and MSAFP screening orders. 

Yes. Providers should order supplies  on the PNS Program supplies order web page. The supplies available include the PNS Program label stationery, MSAFP mailing labels, and MSAFP blood collection kits.

PNS Program label stationery. Providers should order both the cfDNA and MSAFP screening tests using the CalGenetic Portal. After a screening order is electronically submitted on the CalGenetic Portal, providers will need to print a PNS Program “Consent and Order Confirmation” for each cfDNA and MSAFP screen, respectively. 

The “Consent and Order Confirmation” will need to be printed on PNS Program label stationery provided at no cost. The PNS Program label stationery contains four peel-off unique barcode number labels that should be affixed to the required sample collection tubes and to the required paperwork for cfDNA screening and MSAFP screening orders.

MSAFP mailing labels. If you do not ship your specimens to our laboratories via General Logistics Systems (GLS), you will need to preprint the USPS pre-paid MSAFP mailing label and affix it to the MSAFP blood collection kit so that it is sent to the appropriate state-contracted Newborn and Prenatal Screening (NAPS) Laboratory. 

In the past, the mailing label was included on the first trimester and second trimester TRFs. The PNS Program is now providing these blank MSAFP mailing labels for printing at no cost. Order them through our PNS Program supplies order web page as you would other supplies.

Providers that have already placed orders for MSAFP mailing labels and have yet to receive their supply should do the following in the meantime: Request an emergency packet from the PNS Program by emailing PNS@cdph.ca.gov and using the subject line, “Mailing Labels Request.”

MSAFP blood collection kits. These include yellow-top collection tubes, bio-hazard wrappers, and plastic trays. MSAFP screening requires blood to be drawn in a 3 mL serum separator tube provided in the state MSAFP blood collection kits. As before, after blood is collected from non-Kaiser patients for MSAFP screening, it should be sent to one of three NAPS (Newborn and Prenatal Screening) Laboratories. 

Note that providers can also place orders now for revised PNS Program educational materials, but delivery of these materials may be delayed by a nationwide paper shortage.

Yes. The PNS Program has posted back-up, “Consent and Order Forms” as fillable pdf files for both cfDNA and MSAFP screening on the PNS Program Information for Providers web page (see the Program Materials section). See also consent language translated into other langauges provided as a courtesy there.

Clinicians will be responsible for planning ahead by downloading and printing paper copies of the “Consent and Order Form” pdfs to use as backup forms if the CalGenetic Portal cannot be accessed. Note that patient “Decline” forms have been posted on the same web page.

If and when the pdf of the “cfDNA Consent and Order Form” or the “MSAFP Consent and Order Form” is downloaded and printed for use, a signed copy should be placed in the patient's health record and the signed original handed to the patient and included with their blood collection kit when blood is drawn either in your office or clinic, or at a specified blood collection facility. Note that clinicians need to tell patients where the closest blood collection facility is.

The patient’s blood sample and paperwork will all get shipped to the selected cfDNA laboratory. The selected laboratory performs the test and sends the screening results electronically to the PNS Program.

The signed patient “Decline” forms should be placed in the patient’s health record.

Not always. Kaiser providers should check with their internal systems to find out how ordering screening tests or result communications differs from what is summarized here.

Providers will continue to obtain results through the CalGenetic Portal. The PNS Program will also continue to send result mailers by UPS ground mail to the patients’ prenatal care provider indicated on the PNS Program order form.

Providers should contact their patients with their screening results.

Yes. Clinicians and their delegates should place orders only for the patients for whom they are responsible for providing prenatal care.

Clinicians do not need to renew their registration for the CalGenetic Portal. Their license is authenticated every time they log into CalGenetic Portal. 

Delegates are staff members, including office and medical assistants, that a licensed clinician (MD/DO) allows access to the CalGenetic Portal. Delegates generally do not have a professional license and therefore do not go through IDEAL verification on the CalGenetic Portal.

Staff, including office and medical assistants, can order screening tests on behalf of a physician or osteopath if they work for them. The staff member must be added as a delegate by the clinician on the CalGenetic Portal, and the clinician must indicate that the delegate can order screening tests in the CalGenetic Portal.

No. Currently, there is no integration with EPIC given the diversity of institutions across the state and electronic platforms. Clinicians will need to use the CalGenetic Portal to submit orders and obtain results for cfDNA and MSAFP prenatal screening. In the future the program is interested in partnering with large health care systems to better integrate PNS Program screening orders with electronic medical record systems.

Yes. The cfDNA or MSAFP screening test results will available through the Results Application on CalGenetic Portal. However, prenatal providers must have the PNS Program form number of the original order and the patient’s date of birth to retrieve results on the Results Application in the CalGenetic Portal. Results are available online for one year from the date of blood collection.

Using the Orders Application in the CalGenetic Portal has the following benefits:

• Licensed providers and delegated staff can keep track of specimens.
• Clinicians and delegated staff review updates on specimen status (e.g., “specimen received” and “specimen results”) on the orders inventory page.
• Clinicians and delegated staff navigate to results directly from the orders page.
• Clinicians and delegated staff will not have to wait to receive paper mailers to obtain results.
• Order submission takes less time with the copy and paste function: Order information that was submitted for one screening test (i.e., cfDNA) can be copied and used to submit the next screening test (i.e, MSAFP) for the same patient.
• Orders can be drafted before a patient’s arrival, and the order will remain in “draft” status until the order is ready to be submitted.
• Ordering providers can easily update their profile information, especially their address which is where result mailers are sent.

Yes. Delegates are staff members, including genetic counselors, office assistants, and medical assistants, that a licensed clinician (MD/DO) allows access to the CalGenetic Portal. 

Staff, including genetic counselors, and office and medical assistants, can order screening tests on behalf of a physician or osteopath if they work for them. The staff member must be added as a delegate by the clinician on the CalGenetic Portal, and the clinician must indicate that the delegate can order screening tests in the CalGenetic Portal.

Genetic counselors can also authenticate through the CalGenetic Portal based on their own license to view screening test results, but must create an additional account and become a delegate to order screening tests. When they are registered as a delegate, genetic counselors will need to use an email address other than the one they used in the CalGenetic Portal account that is tied to their own license. The Genetic Disease Screening Program hopes to remedy this situation soon.

The electronic Orders Application in the CalGenetic Portal shows the status for an order being processed. The status will be one of the following: “Draft,” “Submitted,” “Not received,” “Specimen Received,” “Specimen Processed,” and “Result Available.” 

Orders can be drafted before a patient’s arrival, and the order will remain in “Draft” status until the order is ready to be submitted. Once submitted, the status is changed to “Submitted,” and then, “Not Received,” which means it has not yet arrived at the designated lab. After it is received at the lab, the status changes to “Specimen Received” and then subsequently, “Specimen Processed,” and lastly, “Result Available.”

Results should be available for viewing in the CalGenetic Portal 10–14 days from original blood draw date. If you cannot view results within that time frame, please contact your regional case coordinator office to get your patient’s result.

If a provider gets a message when registering as a user in the CalGenetic Portal that says “License Already in Use,” it means that the license number is already linked to an account (possibly staff in the same clinic are using it).

A new self-service CalGenetic Portal feature allows a provider to unlink their license number from a previous account and create a new account linked to that license, without losing access to screening test orders and results, facility information, and delegate information.

Please see this recording from the PNS Program January 25, 2023 webinar addressing managing delegates and the new unlinking feature. See the Unlink License and Linking Orders Step-by-step Guide (PDF) for more details on how to use this feature.

Note that there is currently a defect that is affecting the “Unlink License” functionality in Firefox so please use Google Chrome or Microsoft Edge if you are experiencing issues.

The screenshot below shows how the providers can give permission to a delegate (any office staff) to place orders and view results. This video also shows how to add or update delegates (see the timestamp at 3:26).

As the provider is adding or updating a delegate, they can select by checking the facilities for which they want them to place the orders. To reach the relevant screen in the CalGenetic Portal, please follow the below steps:

• Login to CalGenetic Portal
• Click on “PNS Results” or “PNS Orders” from the dashboard
• Click on the user name in the header and navigate to provider profile
• Add facility 
• Add/update delegate
  
• If the delegate already exists, click on the delegate name in the grid. A single delegate can now be associated with multiple providers.

Changing fetal sex disclosure from “no” to “yes” after placing an order:

All pregnant individuals in California can participate and receive cfDNA and MSAFP screening through the PNS Program regardless of age or risk. See the most recent ACOG bulletin covering prenatal screening, ACOG Practice Bulletin 226: Screening for Fetal Chromosomal Abnormalities. (Obstet Gynecol, Vol 136, No 4, October, 2020). 

It states that “Prenatal genetic screening (serum screening with or without nuchal translucency [NT] ultrasound or cell free DNA screening) should be discussed and offered to all pregnant patients regardless of age or risk for chromosomal abnormality.” 

The PNS Program makes cfDNA screening for trisomy 13, trisomy 18, and trisomy 21 available to all pregnant individuals regardless of age or risk. 

If the cfDNA laboratory cannot provide a definitive result, the result mailer will explain the specific patient result. In some cases, a redraw will be recommended. Screening test failures due to low fetal fraction will be eligible for redraw if the patient’s gestational age is less than 18 weeks; if the gestational age is 18 weeks or greater, the patient will be eligible for a redraw or referral for counseling, ultrasound and diagnostic testing at a state-contracted Prenatal Diagnosis Center.

Yes. See below for the laboratory-specific instructions for each respective state-contracted cfDNA. These instructions are also posted on the PNS Program Information for Providers web page (see the Program Materials section).

cfDNA Labora​tory Instru​ctions and FAQs

​Natera

• cfDNA Laboratory Instructions: Natera (PDF)
  
• cfDNA Laboratory Additional Information: Natera (PDF)
  

Quest

• cfDNA Laboratory Instructions: Quest Diagnostics (PDF)
  
• cfDNA Laboratory Additional Information: Quest Diagnostics (PDF)
  

Revvity

• cfDNA Laboratory Instructions: Revvity (PDF)
  
• cfDNA Laboratory Additional Information: Revvity (PDF)​
  

These documents include laboratory-specific instructions, where to send patients for cfDNA blood collection, and how individual provider offices can obtain cfDNA blood collection kits, prepare samples, and ship samples.

These directions are also posted on the PNS Program Portal Resources web page and will be on the CalGenetic Portal resource page at program launch.

Yes. The prenatal screening test with a screen positive result must be done through the PNS Program, and the patient must meet screening criteria for follow-up services, in order for the patient to be eligible for PNS Program follow-up services.

Yes.

cfDNA screening will be available starting at 10 weeks 0 days and can be done throughout pregnancy. However, the PNS Program recommends that cfDNA screening take place from 10 weeks 0 days through 21 weeks 0 days so that all follow-up services can be available to individuals determined to be high risk.

Each of the state-contracted labs provide comparable screening performance with respect to screening for the three most common fetal autosomal trisomies (trisomy 21, trisomy 18 and trisomy 13). However, the process for obtaining screening for patients is different for each lab.  

For Natera, providers will need to order blood collection kits and can draw blood in their own office or send the patient to a Natera contracted draw station.  

For Quest Diagnostics, patients can be sent directly to one of their 400+ Patient Service Centers.  

Please visit our PNS Program Information for Providers web page to see the laboratory-specific instructions for ordering cfDNA screening. Please also review the “additional Information” document for each laboratory, which provides more specific details for each laboratory.

Please see this list of Reference List on cfDNA Screening (PDF) that was created as part of the April 18, 2022, webinar on the Clinical Overview of cfDNA Screening. Please visit the PNS Program Webi​nars web page to view the recording of that and other program change webinars.