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  • MEDICAL POLICY 4.01.21

    Noninvasive Prenatal Screening for Fetal Aneuploidies and

    Microdeletions Using Cell-Free Fetal DNA

    BCBSA Ref. Policy: 4.01.21

    Effective Date: Oct. 1, 2017

    Last Revised: March 9, 2018

    Replaces: N/A

    RELATED MEDICAL POLICIES:

    12.04.116 Invasive Prenatal (Fetal) Diagnostic Testing

    Select a hyperlink below to be directed to that section.

    POLICY CRITERIA | DOCUMENTATION REQUIREMENTS | CODING

    RELATED INFORMATION | EVIDENCE REVIEW | REFERENCES | APPENDIX | HISTORY

    Clicking this icon returns you to the hyperlinks menu above.

    Introduction

    Chromosomes are found in each cell and hold all of the genetic material the DNA of each

    person. Each cell usually contains 23 pairs of chromosomes, including the pair that determines

    the persons sex. Having more or fewer chromosomes known as aneuploidy results in birth

    defects. Screening for aneuploidies is recommended during pregnancy. In the past, this

    screening was typically done by examining cells from the fetus. The cells were obtained either by

    taking a sample of the placenta or the amniotic fluid surrounding the baby. Newer tests that

    require only a blood sample from the mother can be used to screen for aneuploidies. This test

    looks at pieces of the fetuss DNA thats naturally circulating in the mothers blood. This policy

    describes when this type of blood test may be medically necessary. This blood test is

    investigational unproven when its used to look for missing pieces of chromosomes that

    are too small to be seen without a microscope. Its also investigational when its used early in the

    pregnancy to look at the sex chromosomes.

    Note: The Introduction section is for your general knowledge and is not to be taken as policy coverage criteria. The

    rest of the policy uses specific words and concepts familiar to medical professionals. It is intended for

    providers. A provider can be a person, such as a doctor, nurse, psychologist, or dentist. A provider also can

    be a place where medical care is given, like a hospital, clinic, or lab. This policy informs them about when a

    service may be covered.

    https://www.premera.com/medicalpolicies/12.04.116.pdf

  • Page | 2 of 23

    Policy Coverage Criteria

    Testing Medical Necessity Trisomy 21 Nucleic acid sequencingbased testing of maternal plasma

    (MaterniT21, verifi, Harmony, Panorama) for trisomy 21

    may be considered medically necessary in women with

    singleton pregnancies undergoing screening for trisomy 21.

    Trisomy 13 and/or 18 Concurrent nucleic acid sequencingbased testing of maternal

    plasma for trisomy 13 and/or 18 may be considered medically

    necessary in women who are eligible for and are undergoing

    nucleic acid sequencingbased testing of maternal plasma for

    trisomy 21.

    Testing Investigational Trisomy 21 Nucleic acid sequencingbased testing of maternal plasma for

    trisomy 21 is considered investigational in women with twin or

    multiple pregnancies.

    Trisomy 13 and/or 18 Nucleic acid sequencingbased testing of maternal plasma for

    trisomy 13 and/or 18, other than in the situations specified

    above, is considered investigational.

    Fetal sex chromosome

    aneuploidies

    Nucleic acid sequencingbased testing of maternal plasma for

    fetal sex chromosome aneuploidies is considered

    investigational.

    Microdeletions Nucleic acid sequencing-based testing of maternal plasma for

    microdeletions is considered investigational.

    Documentation Requirements The patients medical records submitted for review for all conditions should document that

    medical necessity criteria are met. The record should include the following:

    Documentation of singleton pregnancy

    Coding

  • Page | 3 of 23

    Code Description

    CPT 0009M Fetal aneuploidy (trisomy 21 and 18) DNA sequence analysis of selected regions using

    maternal plasma, algorithm reported as a risk score for each trisomy

    81420 Fetal chromosomal aneuploidy (eg, 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

    81422 Fetal chromosomal microdeletion(s) genomic sequence analysis (eg, DiGeorge

    syndrome, Cri-du-chat syndrome), circulating cell-free fetal DNA in maternal blood

    81479 Unlisted molecular pathology procedure

    81507 Fetal aneuploidy (trisomy 21, 18, and 13) DNA sequence analysis of selected regions

    using maternal plasma, algorithm reported as a risk score for each trisomy

    81599 Unlisted chemistry procedure

    84999 Unlisted chemistry procedure

    Note: CPT codes, descriptions and materials are copyrighted by the American Medical Association (AMA). HCPCS

    codes, descriptions and materials are copyrighted by Centers for Medicare Services (CMS).

    Related Information

    This policy refers to non-invasive testing and does not apply to pregnancies with a high clinical

    suspicion of fetal microdeletions for which invasive confirmatory testing is indicated (see

    Related Policies).

    In a 2015 committee opinion, the American College of Obstetricians and Gynecologists (ACOG)

    recommends 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 non-invasive prenatal screening for fetal aneuploidies report rare

    but occasional false positives. In these studies, the actual false-positive test results were not

    always borderline; some were clearly above the assay cutoff value, and no processing or

    biological explanations for the false-positive results were reported. False-positive findings have

    been found to be associated with factors including placental mosaicism, vanishing twins, and

    maternal malignancies. In its 2015 committee opinion, ACOG recommended diagnostic testing

    to confirm positive cell-free DNA tests, and that management decisions not be based solely on

    the results of cell-free DNA testing. ACOG further recommends that patients with indeterminate

  • Page | 4 of 23

    or uninterpretable (ie, no call) cell-free 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.

    As noted in the 2015 ACOG committee opinion, cell-free DNA screening does not assess the risk

    of anomalies such as neural tube defects. Patients should continue to be offered ultrasound or

    maternal serum alpha-fetoprotein screening, regardless of the type of serum screening selected.

    In some cases, tissue samples from chorionic villous sampling (CVS) or amniocentesis may be

    insufficient for karyotyping; confirmation by specific fluorescent in situ hybridization (FISH) assay

    is acceptable for these samples.

    Evidence Review

    Background

    Fetal Aneuploidy

    Fetal chromosomal abnormalities occur in approximately 1 in 160 live births. Most fetal

    chromosomal abnormalities are aneuploidies, defined as an abnormal number of chromosomes.

    The trisomy syndromes are aneuploidies involving 3 copies of one chromosome. The most

    important risk factor for trisomy syndromes is maternal age. The approximate risk of a trisomy

    21 (T21; Down syndrome)affected birth is 1 in 1100 at age 25 to 29. The risk of a fetus with T21

    (at 16 weeks of gestation) is about 1 in 250 at age 35 and 1 in 75 at age 40.1

    T21 is the most common cause of human birth defects and provides the impetus for current

    maternal serum screening programs. Other trisomy syndromes include T18 (Edwards syndrome)

    and T13 (Patau syndrome), which are the next most common forms of fetal aneuploidy,

    although the percentage of cases surviving to birth is low and survival beyond birth is limited.

    The prevalence of these other aneuploidies is much lower than the prevalence of T21, and

    identifying them is not currently the main intent of prenatal screening programs. Also, the

    clinical implications of identifying T18 and 1T3 are unclear, because survival beyond birth is

    limited for both conditions.

  • Page | 5 of 23

    Fetal Aneuploidy Screening

    Current national guidelines recommend that all pregnant women be offered screening for fetal

    aneuploidy (referring specifically to T21, T18, and T13) before 20 weeks of gestation, regardless

    of age.2 Standard aneuploidy screening involves combinations of maternal serum markers and

    fetal ultrasound done at various stages of pregnancy. The detection rate for various

    combinations of noninvasive testing ranges from 60% to 96% when the false-positive rate is set

    at 5%. When tests indicate a high risk of a trisomy syndrome, direct karyotyping of fetal tissue

    obtained by amniocentesis or chorionic villous sampling (CVS) is required to confirm that T21 or

    another trisomy is present. Both amniocentesis and CVS are invasive procedures and have an

    associated risk of miscarriage. A new screening strategy that reduces unnecessary amniocentesis

    and CVS procedures and increases detection of T21, T18, and T13 could improve outcomes.

    Confirmation of positive noninvasive screening tests with amniocentesis or CVS is

    recommended; with more accurate t

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