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  • Blue Shield of California 601 12th Street, Oakland, CA 94607

    Reproduction without authorization from Blue Shield of California is prohibited

    Medical Policy

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    4.01.21 Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA Original Policy Date: March 29, 2013 Effective Date: March 1, 2020 Section: 4.0 OB/Gyn/Reproduction Page: Page 1 of 25 Policy Statement Nucleic acid sequencing–based testing (Noninvasive Prenatal Testing or NIPT, also referred to as Noninvasive Prenatal Screening or NIPS) of a pregnant individual’s plasma to screen for trisomy 21, 18, and 13 as an alternative to the California Prenatal Screening Program or similar (see Policy Guidelines section), may be considered medically necessary in women with singleton pregnancies. Performing both the California Prenatal Screening Program (or similar) testing and NIPT during the same pregnancy is considered not medically necessary. Nucleic acid sequencing–based testing of a pregnant individual’s plasma for trisomy 21 is considered investigational in individuals with twin or multiple pregnancies. Nucleic acid sequencing–based testing of a pregnant individual’s plasma for trisomy 13 and/or 18, other than in the situations specified above, is considered investigational. Nucleic acid sequencing–based testing of a pregnant individual’s plasma for fetal sex chromosome aneuploidies is considered investigational. Nucleic acid sequencing–based testing of a pregnant individual’s plasma for microdeletions is considered investigational. Policy Guidelines Karyotyping would be necessary to exclude the possibility of a false-positive, nucleic acid sequencing–based test. Before testing, individuals should be counseled about the risk of a false- positive test. In a 2015 Committee Opinion No. 640, the American College of Obstetricians and Gynecologists (ACOG) recommended that all patients receive information on the risks and benefits of various methods of prenatal screening and diagnostic testing for fetal aneuploidies, including the option of no testing. Studies published to date on noninvasive prenatal screening for fetal aneuploidies have reported rare but occasional false-positives. False-positive findings have been found to be associated with factors including placental mosaicism, vanishing twins, and maternal malignancies. Diagnostic testing is necessary to confirm positive cell-free fetal DNA tests, and management decisions should not be based solely on the results of cell-free fetal DNA testing. ACOG further recommended that patients with indeterminate or uninterpretable (i.e., “no call”) cell-free fetal DNA test results be referred for genetic counseling and offered ultrasound evaluation and diagnostic testing because “no call” findings have been associated with an increased risk of aneuploidy. Cell-free fetal DNA screening does not assess risk of neural tube defects. Patients choosing NIPT (CPT code 81420) should continue to be offered ultrasound (usually between 11 and 14 weeks gestation; CPT code 76813) or maternal serum α-fetoprotein (AFP; CPT code 82105) screening. CPT codes 81420, 76813 and 82105 are only allowable for patients choosing the NIPT option during the course of the pregnancy.

  • 4.01.21 Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA Page 2 of 25

    Reproduction without authorization from Blue Shield of California is prohibited

    California Prenatal Screening Program The California Prenatal Screening Program (using serum analyte testing and ultrasound) must be offered to all pregnant women who reside in California. NIPT is considered an equivalent test and is offered to Blue Shield of California patients as an alternative. However, both should not be done during the same pregnancy. When multiple screening tests are performed, unless they are designed to function together (i.e., the quad test, where each of the 4 blood tests has been studied and found to be independent of the others), there is a risk of increasing the number of false-positive results with an uncertain improvement in the actual detection rate for the abnormality. An increase in false positives results in an increase in invasive diagnostic testing (i.e., Chorionic Villus Sampling or amniocentesis) that has significant independent risks from doing those procedures.17 Patients choosing the California Prenatal Screening program would not be allowed CPT code 81420 for NIPT testing during the same pregnancy (see Coding in the Policy Guidelines section for CPT codes). Genetics Nomenclature Update The Human Genome Variation Society nomenclature is used to report information on variants found in DNA and serves as an international standard in DNA diagnostics. It is being implemented for genetic testing medical evidence review updates starting in 2017 (see Table PG1). The Society’s nomenclature is recommended by the Human Variome Project, the HUman Genome Organization, and by the Human Genome Variation Society itself. The American College of Medical Genetics and Genomics and the Association for Molecular Pathology standards and guidelines for interpretation of sequence variants represent expert opinion from both organizations, in addition to the College of American Pathologists. These recommendations primarily apply to genetic tests used in clinical laboratories, including genotyping, single genes, panels, exomes, and genomes. Table PG2 shows the recommended standard terminology“pathogenic,” “likely pathogenic,” “uncertain significance,” “likely benign,” and “benign”to describe variants identified that cause Mendelian disorders. Table PG1. Nomenclature to Report on Variants Found in DNA

    Previous Updated Definition Mutation Disease-associated

    variant Disease-associated change in the DNA sequence

    Variant Change in the DNA sequence Familial variant Disease-associated variant identified in a proband for use in

    subsequent targeted genetic testing in first-degree relatives Table PG2. ACMG-AMP Standards and Guidelines for Variant Classification

    Variant Classification Definition Pathogenic Disease-causing change in the DNA sequence Likely pathogenic Likely disease-causing change in the DNA sequence Variant of uncertain significance Change in DNA sequence with uncertain effects on disease Likely benign Likely benign change in the DNA sequence Benign Benign change in the DNA sequence

    ACMG: American College of Medical Genetics and Genomics; AMP: Association for Molecular Pathology. Genetic Counseling Experts recommend formal genetic counseling for patients who are at risk for inherited disorders and who wish to undergo genetic testing. Interpreting the results of genetic tests and understanding risk factors can be difficult for some patients; genetic counseling helps individuals understand the impact of genetic testing, including the possible effects the test results could have on the individual or their family members. It should be noted that genetic counseling may alter the utilization of genetic testing substantially and may reduce inappropriate testing; further, genetic counseling should be performed by an individual with experience and expertise in genetic medicine and genetic testing methods.

  • 4.01.21 Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA Page 3 of 25

    Reproduction without authorization from Blue Shield of California is prohibited

    Coding If the test is run as a genomic sequence analysis panel that includes analysis of all 3 chromosomes and does not involve an algorithmic analysis, the following code is available:

    • 81420: Fetal chromosomal aneuploidy (e.g., trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis of chromosomes 13, 18, and 21

    Effective October 1, 2019, there is a new CPT PLA code that represents First Trimester Screen| Fß SM:

    • 0124U: Fetal congenital abnormalities, biochemical assays of 3 analytes (free beta-hCG, PAPP-A, AFP), time-resolved fluorescence immunoassay, maternal dried-blood spot, algorithm reported as risk scores for fetal trisomies 13/18 and 21

    Effective October 1, 2019, there is a new CPT PLA code that represents Maternal Fetal Screen | T1 SM:

    • 0125U: Fetal congenital abnormalities and perinatal complications, biochemical assays of 5 analytes (free beta-hCG, PAPP-A, AFP, placental growth factor, and inhibin-A), time- resolved fluorescence immunoassay, maternal serum, algorithm reported as risk scores for fetal trisomies 13/18, 21, and preeclampsia

    Effective October 1, 2019, there is a new CPT PLA code that represents Maternal Fetal Screen | T1 + Y Chromosome SM:

    • 0126U: Fetal congenital abnormalities and perinatal complications, biochemical assays of 5 analytes (free beta-hCG, PAPP-A, AFP, placental growth factor, and inhibin-A), time- resolved fluorescence immunoassay, includes qualitative assessment of Y chromosome in cell-free fetal DNA, maternal serum and plasma, predictive algorithm reported as a risk scores for fetal trisomies 13/18, 21, and preeclampsia

    There is a specific MAAA CPT code for the Ariosa Diagnostics Harmony™ Prenatal Test:

    • 81507: Fetal aneuploidy (trisomy 21, 18, and 13) DNA sequence analysis of selected regions using maternal plasma,