California Code of Regulations › Title 17 - Public Health › Division 1 - State Department of Health Services › Chapter 4 - Preventive Medical Service › Subchapter 9 - Testing for Heritable Disorders › Group 5 - California Prenatal Screening Program › Article 1 - Definitions › Section 6520 - Definitions

Current through Register 2024 Notice Reg. No. 28, July 12, 2024
(a) For
						the purposes of this Group, the following definitions apply:
(1) "Active Candidate" means a person who has
						received written notification from a certifying agency or board that the
						professional specialty eligibility criteria of the certifying agency or board was
						met and may take the first available certification examination, but has not been
						certified by the certifying agency or board.
(2) "Adverse Outcome Data" means the information
						required to be collected following consecutive prenatal diagnostic procedures
						performed on individuals planning to continue their pregnancies by Amniocentesis
						Practitioners, Transabdominal Chorionic Villus Sampling Practitioners, and
						Transcervical Chorionic Villus Sampling Practitioners. It must also be included in
						progress reports of Adverse Outcome Studies submitted to the Department by
						State-approved Comprehensive Prenatal Diagnosis Centers for each of their
						practitioners, under the conditions and intervals stated in the Prenatal Diagnosis
						Center Standards and Definitions 2022, incorporated by reference.
(3) "Adverse Outcome Studies" means the
						participation in the collection and reporting of Adverse Outcome Data and pregnancy
						information from consecutive prenatal diagnostic procedures performed on individuals
						planning to continue their pregnancies by Amniocentesis Practitioners,
						Transabdominal Chorionic Villus Sampling Practitioners, and Transcervical Chorionic
						Villus Sampling Practitioners, under the conditions and intervals stated in the
						Prenatal Diagnosis Center Standards and Definitions 2022, incorporated by
						reference.
(4) "Amniocentesis
						Practitioner" means a physician who has a valid California medical license and is in
						good standing with the California Medical Board, is approved by the Department to
						perform second trimester ultrasound guided amniocentesis procedures for California
						Prenatal Screening Program participants at State-approved Comprehensive and
						Satellite Prenatal Diagnosis Centers, and meets the following requirements for
						initial approval:
(A) Board Certification by the
						American Board of Obstetrics and Gynecology (ABOG) or American Osteopathic Board of
						Obstetrics and Gynecology (AOBOG), or having Active Candidate status for the next
						certification exam; and
(B) Performance
						of 25 second trimester procedures on individuals planning to continue their
						pregnancies with on-site supervision in the procedure room by an
						Obstetrician-Gynecologist experienced in ultrasound-guided amniocentesis, as defined
						in subsection 6520(a)(23); and
(C)
						Annual volume requirements for performance of amniocentesis procedures and
						participation in any required Adverse Outcome Studies, and all requirements of the
						Prenatal Diagnosis Center Standards and Definitions 2022, incorporated by
						reference.
(5) "Analyte"
						means any constituent or substance the concentration of which is related to the
						presence of a birth defect and is analyzed and reported by prenatal birth defects
						screening laboratories as part of the California Prenatal Screening Program,
						including maternal serum alpha-fetoprotein.
(6) "Applicant" means the entity applying for
						Departmental approval as a State-approved Comprehensive Prenatal Diagnosis Center,
						or to operate a State-approved Satellite Prenatal Diagnosis Center, and includes the
						individual who signs the application for approval.
(7) "Appointment Scheduler" means the staff
						person, or persons, designated by a Director of a State-approved Comprehensive
						Prenatal Diagnosis Center, and approved by the Department, as having met the
						requirements to manage appointment information for California Prenatal Screening
						Program referrals and results in the Department's Screening Information System for
						authorized follow-up services at the State-approved Comprehensive Prenatal Diagnosis
						Center and any State-approved Satellite Prenatal Diagnosis Centers.
(8) "Back-up Prenatal Diagnosis Center Contact
						Person" means the staff person designated by a Director of a State-approved
						Comprehensive Prenatal Diagnosis Center to act, in the absence of the Prenatal
						Diagnosis Center Contact Person, and after the Department advised of the absence, as
						the Prenatal Diagnosis Center Contact Person.
(9) "Birth defect" means any functional or
						structural defect or genetic condition that is capable of being prenatally detected
						and for which the Department has a surveillance or screening program, including
						neural tube defects, ventral wall defects, fetal autosomal trisomies, sex chromosome
						aneuploidies, and other genetic conditions detectable by cfDNA screening.
(10) "California Prenatal Screening Program" means
						the Department's legislatively-mandated, state-wide program that includes cell-free
						DNA screening and maternal plasma and serum alpha-fetoprotein test(s) for prenatal
						screening for birth defects and authorized follow-up services for individuals with a
						screen positive test.
(11) "Cell-free
						DNA screening" means a prenatal screening test for fetal autosomal trisomies, sex
						chromosome aneuploidies, fetal sex, and other genetic conditions detectable by cfDNA
						screening performed on maternal plasma after 10 weeks 0 days of gestation.
(12) "Clinical Cytogeneticist" means a physician,
						or person holding a doctorate degree, who has California licensure as a Clinical
						Cytogeneticist and Board Certification by the American Board of Medical Genetics and
						Genomics or Canadian College of Medical Genetics in Clinical Cytogenetics.
(13) "Clinical Geneticist" means a physician who
						has a valid California medical license and is in good standing with the California
						Medical Board, and Board Certification by the American Board of Medical Genetics and
						Genomics in Clinical Genetics, or who has Active Candidate status for the next
						American Board of Medical Genetics and Genomics certification examination for
						Clinical Genetics. The physician must also be approved by the Department to provide
						consultation in person, supervise all professional services, and be responsible for
						the evaluation of work performance by reviewing and signing off on all patient
						charts for California Prenatal Screening Program participants at State-approved
						Comprehensive and Satellite Prenatal Diagnosis Centers.
(14) "Clinician" means physician, physician
						assistant, nurse midwife, nurse practitioner or any other person licensed or
						certified by the State to provide prenatal care to pregnant individuals or to
						practice medicine.
(15) "Consultative
						Sonologist" means a physician who has a valid California medical license and is in
						good standing with the California Medical Board, is approved by the Department to
						perform first or second trimester ultrasound examinations for California Prenatal
						Screening Program participants at State-approved Comprehensive and Satellite
						Prenatal Diagnosis Centers, and meets the following requirements for initial
						approval:
(A) Board certification or having Active
						Candidate status in Radiology by the American Board of Radiology or in Obstetrics
						and Gynecology by the ABOG or AOBOG; and
(B) Completion of a fellowship and supplemental
						subspecialty training in maternal/fetal medicine; clinical genetics, with an
						emphasis upon fetal medicine; or diagnostic radiology, body imaging or the
						equivalent, with an emphasis upon fetal medicine, at a facility that performs at
						least 2,000 second trimester fetal ultrasound exams a year that meet the anatomical
						guidelines of the American Institute of Ultrasound in Medicine and American College
						of Radiology for complete fetal examinations. The supplemental training must include
						at least three months of targeted fetal ultrasound examinations that involve
						high-risk obstetric imaging that include basic physics, techniques, performance, and
						interpretation followed by three months of proctoring (co-reading) by a qualified
						consultative sonologist; and
(C)
						Performance of at least 500 detailed second trimester ultrasound examinations on
						participants referred specifically for the detection of fetal abnormalities;
						and
(D) Affiliation with an ultrasound
						practice at a State-approved Comprehensive and/or Satellite Prenatal Diagnosis
						Center that is accredited by the American College of Radiology or the American
						Institute of Ultrasound in Medicine; and
(E) Annual volume requirements for performance of
						second trimester ultrasound examination procedures and all requirements of the
						Prenatal Diagnosis Center Standards and Definitions 2022, incorporated by
						reference.
(16) "Cytogenetic
						test" means a laboratory test, such as karyotyping, on amniotic fluid or chorionic
						villus samples that enables visualization of fetal chromosomes for the detection of
						abnormalities and is authorized by the Department to be ordered by a State-approved
						Comprehensive or Satellite Prenatal Diagnosis Center for California Prenatal
						Screening Program participants.
(17)
						"Cytogenomic test" means a laboratory test, such as microarray, on amniotic fluid or
						chorionic villus samples that utilizes molecular diagnostic technology for the high
						resolution detection of fetal chromosomal abnormalities, and is authorized by the
						Department to be ordered by a State-approved Comprehensive or Satellite Prenatal
						Diagnosis Center for California Prenatal Screening Program participants.
(18) "Department" means the California Department
						of Public Health.
(19) "Diagnostic tests
						and procedures" means those additional tests, methods, examinations, or activities,
						approved by the Department to be performed consequent to a screen positive test, and
						are used to detect the presence of a birth defect of the fetus.
(20) "Director of a State-approved Comprehensive
						Prenatal Diagnosis Center" means the staff person at each State-approved
						Comprehensive Prenatal Diagnosis Center who is responsible for the supervision and
						the quality of testing, counseling, and medical care provided by all clinical
						members of that Center's staff, and all of its affiliated State-approved Satellite
						Prenatal Diagnosis Centers, and for ensuring compliance with all provisions of the
						Prenatal Diagnosis Center Standards and Definitions 2022, incorporated by
						reference.
(21) "Experienced in
						transabdominal chorionic villus sampling" means having performed at least 25 first
						trimester transabdominal chorionic villus sampling procedures on individuals
						planning to continue their pregnancies.
(22) "Experienced in transcervical chorionic
						villus sampling" means having performed at least 25 first trimester transcervical
						chorionic villus sampling procedures on individuals planning to continue their
						pregnancies.
(23) "Experienced in
						ultrasound-guided amniocentesis" means having performed at least 25 second trimester
						ultrasound-guided amniocentesis procedures on individuals planning to continue their
						pregnancies.
(24) "Fetal autosomal
						trisomies" means trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and
						trisomy 13 (Patau syndrome).
(25)
						"Follow-up services" means the procedures, services, and diagnostic and other
						approved tests meeting the standard of care as recommended by nationally recognized
						medical or genetic organizations and adopted by the Department and authorized
						consequent to a screen positive test result, and provided through State-approved
						Comprehensive and State-approved Satellite Prenatal Diagnosis Centers. Authorized
						follow-up services may include chorionic villus sampling or amniocentesis and
						related diagnostic tests, ultrasound, and genetic counseling.
(26) "Genetic Counselor" means an individual who
						has a current and valid genetic counselor license or temporary genetic counselor
						license issued by the Department and is approved by the Department to provide
						genetic counseling services for California Prenatal Screening Program participants
						at State-approved Comprehensive or Satellite Prenatal Diagnosis Centers.
(27) "Gestation" means the number of days elapsed
						since the first day of the last normal menstrual period. Gestational age may be
						calculated as the number of days from known or suspected conception plus 14 days or
						estimated by ultrasound examination and measurements or physical examination and
						measurements of a pregnant individual.
(28) "Inadequate specimen for cell-free DNA
						screening" means a blood specimen collected from a pregnant individual which is not
						suitable in quality or quantity, a blood specimen was collected before 70 days (10
						weeks 0 days), or clinical information was not documented as required for test
						result interpretation to perform valid prenatal screening for fetal autosomal
						trisomies.
(29) "Inadequate specimen for
						maternal serum alpha-fetoprotein screening" means a blood specimen collected from a
						pregnant individual which is not suitable in quality or quantity, a blood specimen
						was collected before 15 weeks 0 days (105 days) or after 21 weeks 0 days (147 days)
						of gestation, or clinical information not documented as required for test result
						interpretation to perform valid prenatal screening for neural tube defects of the
						fetus.
(30) "Interim Approval
						Amniocentesis Practitioner" means a physician who has a valid California medical
						license and is in good standing with the California Medical Board, is approved by
						the Department to perform second trimester ultrasound-guided amniocentesis
						procedures for California Prenatal Screening Program participants under the
						supervision of an Amniocentesis Practitioner at State-approved Comprehensive or
						Satellite Prenatal Diagnosis Centers, and meets the following requirements for
						initial approval:
(A) Completion of a
						Maternal-Fetal Medicine or equivalent specialized training program, or current
						participation in a Maternal-Fetal Medicine or equivalent specialized training
						program; and
(B) Performance of at least
						10 second trimester amniocentesis procedures on individuals planning to continue
						their pregnancies with on-site supervision in the procedure room by an
						Obstetrician-Gynecologist who is experienced in second trimester ultrasound-guided
						amniocentesis, as defined in subsection 6520 (a) (23), and is immediately adjacent
						to the practitioner during the procedures; and
(C) Annual volume requirements for performance of
						amniocentesis procedures, including submission of logs of supervised procedures,
						participation in any required Adverse Outcome Studies, and all requirements of the
						Prenatal Diagnosis Center Standards and Definitions 2022, incorporated by
						reference.
(31) "Interim
						Approval Transabdominal Chorionic Villus Sampling Practitioner" means a physician
						who has a valid California medical license and is in good standing with the
						California Medical Board, is approved by the Department to perform first trimester
						transabdominal chorionic villus sampling procedures for California Prenatal
						Screening Program participants under the supervision of a Transabdominal Chorionic
						Villus Sampling Practitioner at State-approved Comprehensive or Satellite Prenatal
						Diagnosis Centers, and meets the following requirements for initial approval:
(A) Completion of a Maternal-Fetal Medicine or
						equivalent specialized training program, or current participation in a
						Maternal-Fetal Medicine or equivalent specialized training program; and
(B) Performance of at least 12 first trimester
						transabdominal chorionic villus sampling procedures on individuals planning to
						continue their pregnancies with on-site supervision in the procedure room by an
						Obstetrician-Gynecologist who is experienced in transabdominal chorionic villus
						sampling, as defined in subsection 6520(a)(21), and is immediately adjacent to the
						practitioner during the procedures; and
(C) Annual volume requirements for performance of
						first trimester transabdominal chorionic villus sampling procedures, including
						submission of logs of supervised procedures, participation in any required Adverse
						Outcome Studies, and all requirements of the Prenatal Diagnosis Center Standards and
						Definitions 2022, incorporated by reference.
(32) "Interim Approval Transcervical Chorionic
						Villus Sampling Practitioner" means a physician who has a valid California medical
						license and is in good standing with the California Medical Board, is approved by
						the Department to perform first trimester transcervical chorionic villus sampling
						procedures for California Prenatal Screening Program participants under the
						supervision of a Transcervical Chorionic Villus Sampling Practitioner at
						State-approved Comprehensive or Satellite Prenatal Diagnosis Centers, and meets the
						following requirements for initial approval:
(A)
						Completion of a Maternal-Fetal Medicine or equivalent specialized training program,
						or current participation in a Maternal-Fetal Medicine or equivalent specialized
						training program; and
(B) Performance of
						at least 12 first trimester transcervical chorionic villus sampling procedures on
						individuals planning to continue their pregnancies with on-site supervision in the
						procedure room by an Obstetrician-Gynecologist who is experienced in transcervical
						chorionic villus sampling, as defined in subsection 6520 (a)(22), and is immediately
						adjacent to the practitioner during the procedures; and
(C) Annual volume requirements for performance of
						first trimester transabdominal chorionic villus sampling procedures, including
						submission of logs of supervised procedures, participation in any required Adverse
						Outcome Studies, and all requirements of the Prenatal Diagnosis Center Standards and
						Definitions 2022, incorporated by reference.
(33) "Internal Continuous Quality Improvement
						Program" means the Internal Continuous Quality Improvement Program at a
						State-approved Comprehensive Prenatal Diagnosis Center, and any State-approved
						Satellite Prenatal Diagnosis Centers, that is overseen by the Director of a
						State-approved Comprehensive Prenatal Diagnosis Center to achieve improvement goals,
						as required by the Prenatal Diagnosis Center Standards and Definitions 2022,
						incorporated by reference.
(34) "Invoice
						Liaison" means the staff person, or persons, designated by a Director of a
						State-approved Comprehensive Prenatal Diagnosis Center, and approved by the
						Department, as having met the requirements to manage invoicing in the Department's
						Screening Information System for participants services provided for California
						Prenatal Screening Program referrals at the State-approved Comprehensive Prenatal
						Diagnosis Center and any State-approved Satellite Prenatal Diagnosis
						Centers.
(35) "Maternal Serum Alpha
						Fetoprotein screening" means a prenatal screening test on maternal serum for the
						determination of risk for fetal neural tube defects between 15 weeks 0 days and 21
						weeks 0 days of gestation.
(36) "Method"
						means the instruments, devices, reagents, steps, and procedures used in a laboratory
						to measure the concentration of analytes in samples of maternal plasma or serum or
						amniotic fluid, or to perform prenatal diagnostic or other approved tests meeting
						the standard of care as recommended by nationally recognized medical or genetic
						organizations and adopted by the Department.
(37) "Patient Service Reports" means the
						electronic forms generated in the Department's Screening Information System to
						summarize of the status of the follow-up services authorized by the Department for
						California Prenatal Screening Program referrals and for the input of results of
						services provided for reimbursement of authorized follow-up services at the
						State-approved Comprehensive Prenatal Diagnosis Center and any State-approved
						Satellite Prenatal Diagnosis Centers.
(38) "Patient Service Reports Contact" means the
						staff person, or persons, designated by a Director of a State-approved Comprehensive
						Prenatal Diagnosis Center, and approved by the Department, as having met the
						requirements to enter data to complete Patient Service Reports in the Department's
						Screening Information System for California Prenatal Screening Program referrals at
						the State-approved Comprehensive Prenatal Diagnosis Center and any State-approved
						Satellite Prenatal Diagnosis Centers.
(39) "Prenatal birth defects screening laboratory"
						means a laboratory or laboratories approved by the Department to conduct prenatal
						screening for fetal autosomal trisomies, sex chromosome aneuploidies, fetal sex, and
						other genetic conditions detectable by cfDNA screening as determined by the
						Department, or prenatal screening for neural tube defects as part of state
						administered testing.
(40) "Prenatal
						Diagnosis Center Contact Person" means the staff person designated by a Director of
						a State-approved Comprehensive Prenatal Diagnosis Center as the liaison to receive
						Departmental communications and distribute this information to Prenatal Diagnosis
						Center staff. This staff person will also report to the Department any changes in
						names, schedules, addresses, or telephone and facsimile numbers; and request changes
						in staff designated to perform required functions at the State-approved
						Comprehensive Prenatal Diagnosis Center and any State-approved Satellite Prenatal
						Diagnosis Centers.
(41) "Prenatal
						screening for fetal autosomal trisomies" means a cell-free DNA screening test
						provided by a Department-approved prenatal birth defects screening laboratory (or
						laboratories) for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and
						trisomy 13 (Patau syndrome) during pregnancy after 10 weeks 0 days of
						gestation.
(42) "Prenatal screening for
						neural tube defects" means a maternal serum screening test provided by
						Department-approved prenatal birth defects screening laboratories. Serum screening
						consists of a test for maternal serum alpha-fetoprotein in the second trimester of
						pregnancy.
(43) "Prenatal screening for
						sex chromosome aneuploidies" means a cell-free DNA screening test provided by a
						Department-approved prenatal birth defects screening laboratory (or laboratories)
						for atypical number of X and/or Y-chromosomes beyond the typical female (XX) or male
						(XY) complement after 10 weeks 0 days of gestation.
(44) "Quarterly Report Contact Person" means the
						staff person designated by a Director of a State-approved Comprehensive Prenatal
						Diagnosis Center to enter prenatal diagnostic data on participants not referred
						through the California Prenatal Screening Program in the Department's Screening
						Information System at the State-approved Comprehensive Prenatal Diagnosis Center and
						any State-approved Satellite Prenatal Diagnosis Centers.
(45) "Screening Information System" means the
						computerized system used by the Department and external stakeholders for the
						management of screening data and patient service records.
(46) "Screen positive test result" means a
						cell-free DNA screening test result or maternal serum alpha-fetoprotein screening
						test result that indicates an individual has an increased risk for the targeted
						condition based on screening conducted by Department-approved prenatal birth defects
						screening laboratories and is now eligible for follow-up services through the
						California Prenatal Screening Program.
(47) "Sex chromosome aneuploidy" means an atypical
						number of X and/or Y-chromosomes beyond the typical female (XX) or male (XY)
						complement.
(48) "State-approved
						Comprehensive Prenatal Diagnosis Center" means any facility which is approved by,
						and enters a contract with, the Department to provide and be reimbursed for
						diagnostic tests and procedures for the prenatal evaluation or detection of genetic
						diseases, disorders, and birth defects of the fetus, and other authorized follow-up
						services.
(49) "State-approved Satellite
						Prenatal Diagnosis Center" means a facility that has a written agreement with a
						State-approved Comprehensive Prenatal Diagnosis Center and is approved by the
						Department to provide authorized follow-up services at a site which is not in the
						same suite as an existing State-approved Comprehensive Prenatal Diagnosis Center or
						State-approved Satellite Prenatal Diagnosis Center.
(50) "Transabdominal Chorionic Villus Sampling
						Practitioner" means a physician who has a valid California medical license and is in
						good standing with the California Medical Board, is approved by the Department to
						perform first trimester transabdominal chorionic villus sampling procedures for
						California Prenatal Screening Program participants at State-approved Comprehensive
						or Satellite Prenatal Diagnosis Centers, and meets the following requirements for
						initial approval:
(A) Board Certification by ABOG
						or AOBOG, or having Active Candidate status for the next certification examination;
						and
(B) Approval as an Amniocentesis
						Practitioner; and
i. Performance of at least 25
						first trimester transabdominal chorionic villus sampling procedures, with a minimum
						of five first trimester transabdominal chorionic villus sampling procedures
						performed on individuals referred for prenatal genetic indications and planning to
						continue their pregnancies. All procedures performed on continuing pregnancies must
						have on-site supervision in the procedure room by an Obstetrician-Gynecologist who
						is experienced in transabdominal chorionic villus sampling, as defined in subsection
						6520(a)(21); or
ii. Approval as a
						Transcervical Chorionic Villus Sampling Practitioner; or
iii. Meeting the requirements for approval as a
						Transcervical Chorionic Villus Sampling Practitioner and Amniocentesis Practitioner;
						and
(C) Annual volume of
						transabdominal chorionic villus sampling procedures, participation in any required
						Adverse Outcome Studies, and any other requirements of the Prenatal Diagnosis Center
						Standards and Definitions 2022, incorporated by reference.
(51) "Transcervical Chorionic Villus Sampling
						Practitioner" means a physician who has a valid California medical license and is
						good standing with the California Medical Board, is approved by the Department to
						perform first trimester transcervical chorionic villus sampling procedures for
						California Prenatal Screening Program participants at State-approved Comprehensive
						or Satellite Prenatal Diagnosis Centers, and meets the following requirements for
						initial approval:
(A) Board Certification by ABOG
						or AOBOG, or having Active Candidate status for the next certification examination;
						and
(B) Performance of at least 25 first
						trimester transcervical chorionic villus sampling procedures, with a minimum of five
						first trimester transcervical chorionic villus sampling procedures performed on
						individuals referred for prenatal genetic indications and planning to continue their
						pregnancies. All procedures performed on continuing pregnancies must have on-site
						supervision in the procedure room by an Obstetrician-Gynecologist who is experienced
						in transcervical chorionic villus sampling, as defined in subsection 6520(a)(22);
						and
(C) Approval as a Transabdominal
						Chorionic Villus Sampling Practitioner or meeting the requirements for approval as a
						Transabdominal Chorionic Villus Sampling Practitioner; and
(D) Annual volume of transcervical chorionic
						villus sampling procedures, participation in any required Adverse Outcome Studies,
						and any other requirements of the Prenatal Diagnosis Center Standards and
						Definitions 2022, incorporated by reference.
(52) "Ultrasound Accreditation Certificate" means
						the certification issued to an accredited ultrasound practice by the American
						Institute of Ultrasound in Medicine or the American College of Radiology.