Below is a checklist providers can use to prepare for program changes. This checklist is dynamic and information will be updated, so please plan return visits closer to program launch.

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 PerkinElmer (coming online later). 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 revised PNS Program, the Genetic Disease Screening Program has contracted with the following three cfDNA laboratories only:

• Natera 
• Quest Diagnostics 
• PerkinElmer 

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. PerKinElmer will become an available choice for providers as quickly as possible. 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 Laboratory Instructions

• cfDNA Laboratory Instructions: Natera (PDF)
  
• cfDNA Laboratory Additional Information: Natera (PDF)
  
• cfDNA Laboratory Instructions: Quest Diagnostics (PDF)
  
• cfDNA Laboratory Additional Information: Quest Diagnostics (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 or microdeletions. The most recent American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin indicated that cfDNA is the most sensitive and specific screening for “the common fetal aneuploidies (trisomies 21, 18, 13)” and the ACOG guidance did not include sex chromosome anomalies or microdeletions in its summary of recommendations.   

Providers can order these and other screenings, including carrier screenings, that are not part of the PNS Program screening panel at their discretion at any laboratory. 

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, 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.

No. 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. 

This is consistent with the guidance established by ACOG (American College of Obstetricians and Gynecologists) and the ACMG (American College of Medical Genetics), which are the professional associations that the state uses to define the current standard of care. 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 will continue to 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.

A transition period between the biochemical and the revised PNS Program using cfDNA screening for detection of chromosomal abnormalities will run from September 19 through November 28, 2022. The purpose of the transition period is to give patients that have had first trimester biochemical screening a chance to complete second trimester biochemical screening, after the revised PNS Program starts. ​The last day for patients to get second trimester biochemical blood draw for integrated screening results will be November 28, 2022.

The final day for ordering first trimester biochemical screening using the current PNS Program is September 18, 2022. These orders can be made using the existing paper first trimester Test Request Form (TRF). 

For these patients only, providers can submit a second trimester paper TRF through November 28, 2022, to order a serum integrated or sequential integrated screening test. The second sample used in the integrated screening will allow those patients to obtain a revised chromosome risk assessment, as well as a risk assessment for neural tube defects.

For all other patients, providers will order screening tests using the CalGenetic Portal or by downloading and printing back-up, fillable PDF order forms if absolutely necessary.

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 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. 

Providers that have already placed orders and have yet to receive their supply of PNS Program label stationery should do the following:

• Request an emergency packet (25 sheets) from the PNS Program by emailing PNS@cdph.ca.gov and using the subject line, "Stationery Request."
• ·Use a regular (8.5 x 11) sheet of paper when printing the confirmations. A temporary workaround has been developed with our cfDNA-contacted labs so that specimens can still be processed. For MSAFP screening, specimen processing time could be delayed.

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.

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.

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.”

It can take anywhere from 5 to 10 business days for cfDNA specimens to be displayed as the “Result Available” status on the Orders Application in the CalGenetic Portal. For MSAFP, it can take anywhere from 3 to 5 business days for a specimen to be displayed as “Result Available.”

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). When this happens, the provider must email PNS@cdph.ca.gov in order to de-link the email address from the first account so that they can register using their own license number. Once the account has been de-linked, and they've registered in the CalGenetic Portal, they'll be able to make clinic staff delegates on the new account. The training videos on the Resource page of the CalGenetic Portal provide details on how to add/remove delegates, how delegates initially log in to the CalGenetic Portal, and how delegates can place orders and view results.

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.