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 will launch its revised program. Going forward, cell-free DNA (cfDNA) will become the primary screening test for trisomy 21, trisomy 18, and trisomy 13, replacing biochemical screening for trisomies 21 and 18.

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. cfDNA screening will also give patients the option to find out the sex of the fetus.

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

The PNS Program will 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.

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

As part of the PNS Program redesign, the Genetic Disease Screening Program has contracted with the following three cfDNA laboratories only:

• Natera 
• Quest Diagnostics 
• PerkinElmer 

Any of these three laboratories that have completed the required onboarding process will be available for providers to choose in the PNS Orders Application on the CalGenetic Portal on September 19, 2022. Any laboratories that have not completed the required onboarding process by then will become an available choice for providers as quickly as possible after that.

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

Screening result communications and follow-up services will be standardized regardless of which laboratory is selected services can be provided consistently and equitably to all pregnant individuals in California. 

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

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. 

No. The PNS Program screening panel does not currently include sex chromosome abnormalities or microdeletions. 

Yes. Certain of the three state-contracted laboratories will allow providers to order additional screening tests or testing for anything not included in the PNS Program screening panel using the same blood specimen taken from a patient through the PNS Program. Even though the same blood specimen may be used, the additional screening or testing at the state-contracted laboratory will technically be independent of the PNS Program. It will require the creation of a separate test request process. The laboratory conducting those tests will bill separately for these services.

A transition period between the current biochemical and the redesigned 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 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. 

Yes, there is one more webinar scheduled for Wednesday, August 24, 12 noon to 1:30 pm, entitled, "PNS Program Changes: Provider Support and Educational/Training Materials." Pre-registration is required. Register here.

Please visit the PNS Program Webinars web page to view recordings of two previous webinars. Providers can earn CME credits for attending the webinars and filling out an evaluation survey or for watching the recorded webinars and filling out an evaluation survey.

The CalGenetic Portal is already live and 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.

All physicians and their delegates are encouraged to log into the CalGenetic Portal and set up an account now.  

A new electronic order requisition application on the CalGenetic Portal will be available when the revised PNS Program launches. cfDNA and MSAFP screening will require providers to complete electronic test orders through the Portal. 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.

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 special stationery provided at no cost. The stationery can be ordered now on the PNS Program supplies order webpage.

The PNS Program special 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 can order supplies now 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 special stationery. At revised PNS Program launch, 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 special stationery provided at no cost.  The PNS Program special 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 & Prenatal Screening (NAPS) Laboratory. In the past, the mailing label was included on the first trimester and second trimester TRFs. In the future, the PNS Program will be providing these blank MSAFP mailing labels for printing at no cost.

MSAFP blood collection kits. These include yellow-top collection tubes, bio-hazard wrappers, and plastic trays.

Note that providers can place orders now for revised PNS Program educational materials, but delivery of these materials may be delayed until closer to the program launch.

Yes. The PNS Program will post 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. 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 will be posted on the same web page.

If and when the pdf of the "cfDNA Consent and Order Form" and the "MSAFP Consent and Order Form" is used, a copy should be placed in the patient's health record and the original handed to the patient and included with their blood collection kit when blood is drawn either in your clinic, or at a specified blood collection facility. 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 patient "Decline" forms should be placed in the patient's health record.

No. 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 after the revised PNS Program launch. 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.

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. 

A clinician's delegates need to renew their registration every 90 days. Delegates are not authenticated by any external licensing body, but instead are delegated to use the CalGenetic Portal by their supervising clinician. 

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.

No, the cfDNA or MSAFP screening test results will be available only to the clinician of record (and their delegates) indicated on the respective screening order.  If a ptient started care with a different goup,  a provider will not be able to see if they already had a cfDNA or MSAFP screening test in the CalGenetic Portal.

Similar to the current MSAFP screening program, with the revised PNS Program, specific state-contracted laboratories are assigned for the MSAFP screening based on the zip code location of the provider. Providers will be able to go to the CalGenetic Portal to enter the zip code and preprint MSAFP mailing labels that can be affixed to the MSAFP blood collection kits for their patients. However, for cfDNA screening, clinicians will have a choice of the three state-contracted cfDNA laboratories (Natera, Quest, PerkinElmer). 

All pregnant individuals in California can participate and receive cfDNA and MSAFP screening through the California 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.” In accordance with the ACOG guideline noted above, the California Prenatal Screening Program will make cfDNA screening available for trisomy 13, trisomy 18, and trisomy 21 to all pregnant individuals regardless of age or risk starting on September 19, 2022. 

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. Laboratory-specific instructions for each respective state-contracted cfDNA will be provided on the PNS Program Information for Providers web page. They will include laboratory-specific instructions,  where to send patients for cfDNA blood collection, or how individual provider offices can obtain cfDNA blood collection kits, prepare samples, and ship samples.

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

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.  

Our 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, will end with the new cfDNA prenatal screening program. 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.  

Prenatal screening for twins will be provided through the revised PNS Program. Pregnancies with more than two fetuses are not eligible for prenatal screening through the revised PNS Program.

Fetal reduction or fetal demise will make a patient ineligible for prenatal screening through the revised PNS Program. A list of all conditions that would make a patient ineligible for screening is provided on the CalGenetic Portal and is displayed when a provider begins the screening orders process.

For MSAFP screening, the state will continue to supply complete MSAFP blood collection kits, which include yellow-top collection tubes, bio-hazard wrappers, and plastic trays.

What is different? 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 & Prenatal Screening (NAPS) Laboratory. In the past, the mailing label was included on the first trimester and second trimester TRFs. In the future, the PNS Program will be providing these blank MSAFP mailing labels for printing at no cost.

You can order the mailing labels using the same mechanism you currently use to order PNS Program supplies. Please note that there is no special printer required to print the new labels. You can use any ink jet or laser jet.

At go live on September 19, 2022, the PNS Program participation fee for each screening test will be posted on the PNS Program website. The PNS Program participation fee is for comprehensive screening and follow-up, meaning that if a patient has a positive screening result, the fee will cover all follow-up services including genetic counseling, ultrasound, and diagnostic testing.

Per state regulations, 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. Patients are directly billed if they do not have insurance or if their insurance is affected by these exception categories and won't cover fees.

The PNS Program invoices the $232 PNS Program fee for the cfDNA screening to the patient’s insurance company

Information about the three-webinar PNS Program Changes webinar series is found on the PNS Program Webinars web page. This web page allows for webinar registration, viewing past webinar recordings, filling out CME evaluation surveys for live or recorded webinars, learning about how to get CME credits, and who can earn them. The three webinars are below.

Recorded Webinar 1: cfDNA Screening: A Clinical Overview, from April 18, 2022.

Recorded Webinar 2: California Prenatal Screening Program Changes: What To Expect, from July 26, 2022.

Upcoming Webinar 3: California Prenatal Screening Program Changes: Provider Support and Education/Training Materials, Wednesday, August 24, 2022, 12:00-1:30PM. Register here

Bookmark the PNS Program Information for Providers web page. It is the web page that has links to the CalGenetic Portal and every resource and PNS program web page providers will need to access after the revised PNS Program launch.

To receive notices of PNS Program changes electronically before the new program launch, providers and other can sign-up to receive the PNS Program e-Newsletter. Providers or delegates who register on the CalGenetic Portal will also receive the e-newsletter.

Education Resourcesfor Individuals and Families webpage will have all patient materials for the revised PNS Program before program launch. 

The PNS Program will provide extensive, revised patient educational materials so that patients will be properly informed about the benefits and limitations of screening versus diagnostic testing. They include the following:

Education Resources for Healthcare Providers webpage will have all provider materials for the revised PNS Program before program launch. 

In addition to this FAQ; the PNS Program website; the PNS Program e-newsletter, along with monthly program change update e-mail blasts; and the PNS Program Changes webinar series; the following educational materials will be made available:

Up to 500 California prenatal care providers will obtain access to the Perinatal Quality Foundation's Genetic Education Modules (GEM), using a unique code provided by the California Prenatal Screening Program. The unique code is CDPH1234.

Perinatal Quality Foundation (PQF) is a non-profit foundation. The GEM modules include state of the art education materials on cell-free (cfDNA) screening, as well as a variety of provider training materials, videos, and tools relating to prenatal genetic testing.

The unique code will give a California provider free access to the GEM modules until year end 2022. It will also provide the opportunity to earn up to 3.5 CME credits for $40. Visit the CDPH Partnership with Perinatal Quality Foundation web page for more information and instructions.