New Follow-up Service Introduced by the California Prenatal Screening Program Non-Invasive Prenatal Testing (NIPT, NPT) NIPT: Non-invasive prenatal testing uses cell free fetal DNA from the plasma of pregnant women to screen for fetal aneuploidy Authorized if the case is Screen Positive for Down syndrome (T21), Trisomy 18 (T18), or Large NT when referred in the First Trimester or Second Trimester Will be offered at State-approved Prenatal Diagnosis Centers (PDCs) beginning November 4, 2013 Invasive prenatal options offered for confirmatory testing or inconclusive results California Department of Public Health 1

Other Changes With the CA Prenatal Screening Program Label “Had CVS” on the Case Summary screen will change to “Had CVS/Amnio/NIPT” Label “Had CVS” on the PDC Summary printout will change to “Had CVS/Amnio/NIPT” Genetic Counselors will need to confirm with all patients if they had successful results from a CVS/Amnio/NIPT prior to PDC follow-up services If ‘Yes”, the Genetic Counselor must contact a Case Coordinator and only the genetic counseling is authorized California Department of Public Health 2

If “Had CVS/Amnio/NIPT” identified during genetic counseling, check box on PSR-Genetic Counseling screen California Department of Public Health 3

Services offered for Screen Positive for Down syndrome, Trisomy 18 or Large NT referrals in First Trimester As of November 4, 2013, all referrals to Prenatal Diagnosis Centers that are Screen Positive for T21, T18, or Large NT will be authorized for Genetic Counseling (GC), NIPT (NPT), or Chorionic Villus Sampling (CVS) and Karyotyping (K) California Department of Public Health 4

Cases Referred Screen for Screen Positive for Down syndrome, Trisomy 18 or Large NT referrals in First Trimester California Department of Public Health 5

Services offered for Screen Positive for T21, T18 or Large NT referrals that rollover from First to Second Trimester As of November 4, 2013, all referrals to Prenatal Diagnosis Centers that are Screen Positive for T21, T18, or Large NT in the First Trimester and have Genetic Counseling in the First Trimester and then roll into the second trimester at 15 weeks 0 days will be authorized for Modified Genetic Counseling (GC1), NIPT (NPT), Ultrasound (2US), or Amniocentesis (AM) and Karyotyping (KA) and AF-AFP (AF) California Department of Public Health 6

Cases Referred Screen for Screen Positive for T21, T18 or Large NT referrals that rollover from First to Second Trimester California Department of Public Health 7

Services offered for Screen Positive for T21, T18 or Large NT referrals in Second Trimester As of November 4, 2013, all referrals to Prenatal Diagnosis Centers that are Screen Positive for T21, T18, or Large NT in the Second Trimester will be authorized for Genetic Counseling (GC), NIPT (NPT), Ultrasound (2US), or Amniocentesis (AM) and Karyotyping (KA) California Department of Public Health 8

Cases Referred Screen for Screen Positive for T21, T18 or Large NT referrals in Second Trimester California Department of Public Health 9

New PSR Screen: “Enter PSR-NIPT” A NIPT Service Status must be entered whenever NIPT is authorized. The Service Statuses are: Provided Declined Not Indicated Not Authorized Specimen Unable to be Analyzed California Department of Public Health 10

New PSR Screen: “Enter PSR-NIPT” California Department of Public Health 11

New PSR Screen: “Enter PSR-NIPT” The following information must be entered on the “Enter PSR-NIPT” screen for each NIPT when the Service Status is entered as “Provided “ or “Specimen Unable to be Analyzed”: Laboratory Name Blood Draw Date NIPT Result Date If specimen unable to be analyzed, select reason: Administrative Reason – Test Not Performed Low Fetal Fraction Technical Reason – Result Not Reported California Department of Public Health 12

New PSR Screen: “Enter PSR-NIPT” In the NIPT Results section, the following information must be entered on the “Enter PSR-NIPT” screen if the Service Status is selected as “Provided”: Result for T21 (Positive, Negative, or No Result) Result for T18 (Positive, Negative, or No Result) Result for T13 (Positive, Negative, or No Result) Analysis for Sex Chromosomes (Not Abnormal, XX, XY, XO, XXX, XYY, XXY, No Result, Not Analyzed, Other Sex Chromosome Aneuploidy) California Department of Public Health 13

Other Radio Buttons on the “Enter PSR-NPT” screen Add To Grid: Add new NIPT Service record. Update: Update NIPT Service record. Cancel: Cancels current operation of Adding/Updating NIPT Service. Edit: Select the record for Editing. Delete: Delete PSR Service record. Save: Saves the data, runs the validation (inconsistencies) checks and displays feedback to the user. Back: Cancels the transaction and navigates back to previous page. Next: Navigates to next page in navigation. California Department of Public Health 14

Screen Validations on the “Enter PSR-NIPT” screen If the “Laboratory Name” field is left as "Select“, screen validation will show “Enter Laboratory Name. If Laboratory Name is not listed, please call GDSP” If Blood Draw Date is less than or equal to accession date, screen validation will show “Blood Draw Date cannot be less than or equal to accession date“ If NIPT Result Date is less than or equal to accession date, screen validation will show “NIPT Result Date cannot be less than or equal to accession date“ If NIPT Result Date is less than or equal to Blood Draw Date, screen validation will show “NIPT Result Date cannot be less than or equal to Blood Draw Date" California Department of Public Health 15

Screen Validations on the “Enter PSR-NIPT” screen If the NIPT Service Status is selected as "Specimen unable to be analyzed" and the “If specimen unable to be analyzed, select reason” field is left as "Select“, screen validation will show “If specimen unable to be analyzed, select reason“ If NIPT Service Status is selected as "Specimen unable to be analyzed,“ and a reason is selected, NIPT remains authorized and additional NIPT tests and Service Statuses may be entered in cases of redraws. Other follow-up services also remain authorized. California Department of Public Health 16

Screen Validations on the “Enter PSR-NIPT” screen If NIPT Service Status is selected as “Provided” and: If no result is selected for T21, screen validation will show "Select a T21 result“ If no result is selected for T18, screen validation will show "Select a T18 result“ If no result is selected for T13, screen validation will show "Select a T13 result“ If no result is selected for "Analysis for Sex Chromosomes“, screen validation will show "Select a result for Sex Chromosomes" California Department of Public Health 17

Screen Validations on the “Enter PSR-NIPT” screen If NIPT Services = "Provided" AND result status is "No Result" for T21, T18 and T13, screen validation will show "At least one of T21, T18, T13 result must be marked as Positive or Negative when NIPT Service status is selected as Provided“ When user attempts to add an NIPT result with a Blood Draw Date the same as any one of previous results in the grid, screen validation will show "A blood draw with this date has already been entered." When an NIPT result is being added with a Service Status other than "Specimen unable to be analyzed" and the same Status already exists for one of the previous results, screen validation will show "This status already exists for NIPT Service" California Department of Public Health 18

Screen Validations on the “Enter PSR-NIPT” screen Screen validation will show "NIPT service cannot be provided because (CVS or Amnio) is already provided." when CVS or Amnio has already been marked as “Provided” and user tries to mark NIPT as “Provided”. SIS shall not show validation if NIPT has been specially authorized. Screen validation will show "CVS service cannot be provided because NIPT is already provided." on PSR-CVS screen when the NIPT service has already been marked as "Provided" or "Not Authorized" and user tries to mark CVS service as “Provided”. SIS shall not show validation if CVS service is specially authorized. Screen validation will show “Amnio service cannot be provided because NIPT is already provided." on PSR-Amnio screen when the NIPT service has already been marked as "Provided" or "Not Authorized" and user tries to mark Amnio service as “Provided”. SIS shall not show validation if Amnio service is specially authorized. California Department of Public Health 19

Inconsistency Messages on the “Enter PSR-NIPT” screen When the "CVS/Amnio/NIPT" checkbox is checked on the Case Summary screen but "CVS/Amnio/NIPT" checkbox is not checked on PSR - Genetic Counseling screen, the inconsistency will show "The patient's interpretation factor(s) changed during counseling. The Case Coordinator Center was informed of the change in weight, or maternal age, or smoking, or insulin dependent diabetes, or number of fetuses or gestational age, or race or ethnicity or CVS/Amnio/NIPT. Please indicate this interpretation factor change on the patient service report (PSR). If an error was made, contact the Case Coordinator Center." When the "CVS/Amnio/NIPT" checkbox is checked on the PSR - Genetic Counseling screen but the "CVS/Amnio/NIPT" checkbox is not checked on the Case Summary screen, the inconsistency will show "CVS/Amnio/NIPT changed during counseling. Contact GDSP." California Department of Public Health 20

Inconsistency Messages on the “Enter PSR-NIPT” screen If the NIPT provided date (Blood Draw Date) is before the Genetic Counseling date, the inconsistency will show "Ultrasound or amniocentesis or NIPT service was provided on a date before the genetic counseling provided date." If the NIPT provided date (Blood Draw Date) is before the 2nd Trimester ultrasound (2US) date, the inconsistency will show "Ultrasound date after amniocentesis or NIPT date. Send to GDB a copy of interpretation factors and documentation of with whom and when the factors were verified with patient." If NIPT provided date (Blood draw date) is after the 2nd Trimester ultrasound (2US) and both NIPT service status and 2nd Trimester ultrasound (2US) service status is marked as "Provided" and case gets reinterpreted to anything other than Positive, the inconsistency will show "NIPT Provided, but interpretation changed during ultrasound." California Department of Public Health 21

PSR Main Page California Department of Public Health 22

Special Authorization for Positive or Inconclusive NIPT Results A special authorization for CVS or amniocentesis and karyotyping may be requested if the NIPT has a positive result for T21, T18, T13, and/or sex chromosome aneuploidies A special authorization for CVS or amniocentesis and karyotyping may be requested if the NIPT is inconclusive for T21, T18, and/or T13 Full genetic counseling, modified genetic counseling, and an additional ultrasound will not be authorized A special authorization for follow-up genetic counseling may be requested if the patient has CVS or amniocentesis through the Program and the karyotype report diagnosis is Down syndrome Contact GDSP, not a Case Coordinator, for the special authorization in advance of providing any requested service California Department of Public Health 23

History of Special Authorization Screen California Department of Public Health 24

PSR Status Screen California Department of Public Health 25

Service History Screen California Department of Public Health 26

Service Rendered Screen California Department of Public Health 27

Module Summary Scenarios California Department of Public Health ReferralAppointment StatusPSR Navigation 1.1 st T Screen Positive T21 →Kept →GC “Provided” → NIPT “Provided” → CVS “Declined → Preg Status 2.1 st T Screen Positive T18 →1 st T Appt Kept → Kept → GC “Provided” → NIPT “Declined” → CVS “Declined” → GC1 “Provided” → 2US “Provided” → Amnio “Provided” → Add Karyotype & AFAFP results → Preg Status 28

Module Summary Scenarios California Department of Public Health ReferralAppointment StatusPSR Navigation 3.1 st T Screen Positive Large NT → Roll-over and seen in the second trimester 1 st T Appt Kept → Kept → GC “Provided” → NIPT “Declined” → CVS “Declined” → Change NIPT from “Declined” to “Provided” using Update button → GC1 “Provided” → 2US “Provided” → Amnio “Declined” → Preg Status 29

Module Summary Scenarios California Department of Public Health ReferralAppointment StatusPSR Navigation 4.2 nd T Screen Positive T21 →Kept →GC “Provided” → Check ‘CVS/Amnio/NIPT’ interpretation factor change box if patient had one of these services outside of the Program → NIPT “Not Indicated” → 2US “Not Indicated” → Amnio “Not Indicated” → Preg Status 30

Questions? Contact: Sara Goldman, MPH Chief, Program Standards and Quality Assurance Branch Genetic Disease Screening Program (510) California Department of Public Health 31