ModifiedCommunity Health Plan WashingtonPolicy N/A

Prenatal Cell-free DNA Testing (Coverage Criteria)

This policy defines medical necessity, investigational status, and coding implications for prenatal cell-free DNA screening (including aneuploidy, microdeletions, single-gene disorders, fetal RhD genotyping, and maternal serum screening) for pregnant members of the health plan and related provider requirements.

Policy Summary

PayerCommunity Health Plan Washington

PolicyPrenatal Cell-free DNA Testing (Coverage Criteria)

Policy CodePolicy N/A

Change TypeRevised and added criteria (title updatesRhD alternate pathway added)

Effective DateN/A

Next Review DateN/A

Key ActionDocument required pretest counseling and limit maternal serum screening to one of the listed MSS options one time per pregnancy.

SourceLink

POLICY UPDATE CHANGES

Policy titles and criteria sets were changed to use 'Prenatal Cell-free DNA Testing' and eliminate 'Non-Invasive Prenatal Screening' in line with ACMG guidance.

ACMG guidance (2022) added to Background/Rationale and informed changes to single-gene and microdeletion criteria.

Alternate criteria with coverage for fetal RhD genotyping were added.

trisomy 13,18,21primary aneuploidies screened

81422microdeletion CPT

81302-81442single-gene CPT range

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one time/pregnancyMSS frequency

ACMG 2022Guideline (ACMG)

Coverage Criteria for Prenatal Cell-free DNA Testing

Not Medically Necessary/Investigational Uses

Not Medically Necessary / Investigational Uses — the following uses of prenatal cell-free DNA (cfDNA) testing are considered investigational (not covered):

ALL of the following

Prenatal cfDNA testing to predict twin zygosity (CPT 0060U) is investigational.
Prenatal cfDNA testing for microdeletions and microduplications (CPT 81422) is investigational. Rationale: screening for a limited number of microdeletions via cfDNA has not been clinically validated; positive predictive values are low and false positive rates are higher due to low prevalence of individual microdeletion syndromes (ACOG/SMFM).
Prenatal cfDNA testing for mutations associated with single-gene disorders (CPT 81302, 81404-81408, 81442) is investigational. Rationale: insufficient evidence to establish accuracy and predictive value in the general population; not currently recommended by ACOG.
Prenatal cfDNA testing for all other indications not otherwise specified is investigational, including but not limited to testing for aneuploidies other than trisomy 13, 18, and 21.
Prenatal cfDNA testing for multiple gestation pregnancies of triplets or higher is investigational.
Prenatal cfDNA testing performed simultaneously with maternal serum screening (MSS) is investigational.
cfDNA testing on a singleton pregnancy with a known vanishing twin is investigational.
Prenatal cfDNA testing performed solely for fetal sex determination is investigational.

Indications Considered Medically Necessary

Screening for fetal trisomy 13, 18, and 21 and sex chromosome aneuploidies in singleton or twin pregnancies when no prior cfDNA screening in the current pregnancy

Screening for fetal trisomy 13, 18, and 21 and sex chromosome aneuploidies in singleton or twin pregnancies when no prior cfDNA screening in the current pregnancy:

Coverage indication: Member has a singleton or twin pregnancy

Eligible for cfDNA aneuploidy screening when no prior cfDNA performed in current pregnancy.

Coverage indication: Member has not previously had cell-free DNA screening in the current pregnancy

Prior screening in the same pregnancy precludes coverage under this indication.

Post-screening action: Positive cfDNA screening results require confirmatory diagnostic testing (e.g., karyotype, FISH, or chromosomal microarray)

cfDNA is a screening test, not diagnostic; confirmatory testing required for positive results.

Tests and Uses Considered Not Covered / Investigational

The policy explicitly lists as not covered: microdeletion/microduplication panels (CPT 81422), single-gene disorder cfDNA tests (CPTs 81302, 81404–81408, 81442), and prediction of twin zygosity (0060U). It also excludes cfDNA use for other aneuploidies beyond trisomy 13, 18, and 21, higher-order multiple gestations (triplets or greater), and simultaneous performance with maternal serum screening.

These not-covered items reflect the policy’s determination that these test types currently lack sufficient evidence of clinical validity and utility to warrant routine coverage.

Routine cfDNA screening for microdeletions and for single-gene disorders is not recommended by major specialty organizations and the policy therefore treats these uses as effectively excluded from routine coverage. ACOG/SMFM and ACOG practice advisories cite inadequate clinical validation and low positive predictive values as key reasons for not recommending these expanded screenings in general prenatal populations.

Claims for these expanded panels are likely to be denied unless there is a compelling, guideline-supported reason and documentation that meets the policy’s investigational/medical necessity thresholds.

Coding and Billing Guidance

Covered/medically necessary aneuploidy CPTsCPTCovered

0327U	Prenatal cfDNA for chromosome 13, 18, 21, X and Y (example)
81507	Prenatal cfDNA for chromosome 13, 18, 21, X and Y (example)
81420	Referenced for aneuploidy testing

Single-gene disorder CPTs and related codesCPTNot Covered

81302	Single-gene prenatal cfDNA testing (listed example)
81404	Single-gene prenatal cfDNA testing (listed example)
81405	Single-gene prenatal cfDNA testing (listed example)
81406	Single-gene prenatal cfDNA testing (listed example)
81407	Single-gene prenatal cfDNA testing (listed example)
81408	Single-gene prenatal cfDNA testing (listed example)
81442	Single-gene prenatal cfDNA testing (listed example)
0488U	UNITY Fetal Antigen NIPT (example)
0489U	UNITY Fetal Risk Screen (example)

Maternal Serum Screening (MSS) CPTsCPTCovered

81508	First trimester maternal serum screening
81509	Second trimester maternal serum screening (example)
81510	Second trimester maternal serum screening (example)
81511	Integrated/stepwise serum screening part 2
81512	Penta screen / serum integrated options

Fetal RhD genotyping CPTsCPTCovered

81403	UNITY Fetal RhD NIPT (add on) example
81479	Fetal RhD genotyping

Common ICD-10 codes referencedICD-10

O09	High-risk pregnancy codes (example ICDs referenced)
O28	Encounter for supervision of high-risk pregnancy
O30	Multiple gestation
O35	Maternal care for known or suspected fetal abnormality
Q90-Q99	Chromosomal abnormalities and genetic syndromes
Z34	Encounter for supervision of normal pregnancy
Z36.0	Encounter for antenatal screening for chromosomal anomalies
Z36.04	Encounter for antenatal screening for single-gene disorders (example)

Referenced CPT codes (examples)CPT

81405

Example code included/mentioned in policy revisions

Removed/updated CPT codesCPT

81420

Code removed from Policy Reference Table per revisions

MSS frequency

MSS one-time limitNo more than one of the listed maternal serum screening (MSS) options is allowed one time per pregnancy (first-trimester screen 81508 OR second-trimester screens 81509/81510/81511/81512 OR integrated/stepwise/contingent screening OR penta screen 81512)

Allowed MSS optionsFirst trimester screening (free or total beta-hCG and PAPP-A) — CPT 81508

Allowed MSS optionsSecond trimester screening (hCG, msAFP, uE3, and DIA) — CPTs 81509, 81510, 81511, 81512

Allowed MSS optionsIntegrated, stepwise sequential, or contingent sequential screening using the listed first- and/or second-trimester analytes — CPTs 81508/81509/81510/81511/81512

Allowed MSS options

Provider Actions, Documentation, and Counseling Requirements

Documentation Required

Avoid Duplicate / Unlinked Screening

Providers must avoid performing duplicate or unlinked prenatal screening approaches for the same pregnancy. Multiple independent screening tests (for example, a first-trimester maternal serum screen followed later by a quad screen, or performing maternal serum screening simultaneously with cell-free DNA testing) are not recommended because they increase the overall positive screening rate and can produce contradictory results.

Do not perform more than one maternal serum screening option one time per pregnancy (first-trimester, second-trimester, integrated/stepwise/contingent, or penta screen).
Do not perform maternal serum screening simultaneously with cell-free DNA (cfDNA) screening for aneuploidy.
If cfDNA screening is chosen, it should generally be the single prenatal screening approach performed; avoid sequential unlinked screening tests.
If there is clinical uncertainty or an increased-risk result, document counseling and offer diagnostic testing (CVS or amniocentesis) rather than additional unlinked screening.

Documentation Required

Counseling and Documentation Requirements

Providers should document pretest counseling that explains the benefits and limitations of the chosen screening approach, discusses alternatives (including diagnostic testing), and records the patient’s values and preferences. Posttest genetic counseling is recommended for patients with increased-risk, positive, or inconclusive/atypical screening results. When ordering cfDNA testing, the ordering clinician should ensure counseling has been provided and involve trained genetics professionals as indicated.

Eligibility Requirements

Coverage for prenatal cfDNA aneuploidy testing (chromosomes 13, 18, 21, X and Y) is restricted to members who meet specific eligibility criteria in the policy. Key eligibility requirements include that the member has a singleton or twin pregnancy and has not previously had cfDNA screening in the current pregnancy. These top-level nodes define the population in which standard aneuploidy cfDNA screening may be considered medically necessary.

Other eligibility or exclusion considerations referenced in the policy include higher-order multiples (triplets or greater), vanishing twin status, and simultaneous use of maternal serum screening, each of which impacts coverage determination per the stated criteria.

There are no additional, separate top-level family-history or prior-testing requirement nodes specified in this policy window beyond the aneuploidy criterion that the member must not have previously had cfDNA screening in the current pregnancy. The policy refers to the General Approach to Genetic and Molecular Testing for situations involving known familial variants or other specific genetic-testing pathways.

Clinicians should consult the full policy and related genetics guidance when considering testing related to a known familial variant or other nonroutine indications, as those scenarios may require separate documentation and justification.

Note that the policy’s eligibility framework emphasizes prior testing history: for routine aneuploidy cfDNA coverage, the patient must not have already received cfDNA screening during the current pregnancy. Policy revisions clarified this requirement and updated related criteria language to align with current guideline recommendations.

Providers should document prior testing status in the medical record to support coverage decisions and prior authorization requests when applicable.

Definitions

Prenatal Cell-free DNA Testing

Definition (most actionable)Prenatal Cell-free DNA Testing (cfDNA/NIPT) is a screening test that analyzes traces of cell-free DNA in maternal blood to determine the risk of specific fetal genetic disorders; sequencing approaches include massively parallel sequencing (MPS) and SNP-based methods

Test purposeUsed primarily to screen for common fetal aneuploidies (trisomy 21, 18, 13) and sex chromosome aneuploidies; it is a screening—not diagnostic—test

MethodologiesTwo general sequencing approaches: massively parallel sequencing (next-generation sequencing) and single nucleotide polymorphism (SNP) methods

Singleton pregnancy

Definition (most actionable)Singleton pregnancy — a pregnancy with one fetus

Relevance

Background and Rationale

Prenatal cell-free DNA (cfDNA) testing analyzes cell-free placental DNA circulating in maternal blood to assess the risk of fetal chromosomal abnormalities. It is primarily used to screen for the common autosomal trisomies—trisomy 21, trisomy 18, and trisomy 13—and can also detect sex chromosome aneuploidies and fetal sex. cfDNA is a screening test, not diagnostic; positive or high-risk screening results should be confirmed with diagnostic testing such as karyotype, FISH, or chromosomal microarray.

The clinical performance of cfDNA can be affected by factors including placental mosaicism, a vanishing twin, or maternal conditions (for example, certain genetic findings or malignancy). While cfDNA technology has expanded to include microdeletions, microduplications, single-gene disorder screening, and twin zygosity prediction, these expanded applications remain areas of ongoing research and are treated cautiously by the policy due to limited validation and outcome data.

Revision History and Policy Changes

2024-11titles_and_criteria_updated

Multiple sections (aneuploidy, microdeletions, single-gene disorders, MSS, RhD) were retitled to 'Prenatal Cell‑free DNA Testing' and criteria sets updated to align with ACMG guidance.

2024-04coding_and_prior_auth_update

Policy reference table and coding were updated with adjustments to specific procedure codes (e.g., removal of 81420 and mention/inclusion of 81405) and prior authorization requirements aligned to the updated coding table.

2024-03

Policy Summary

PayerCommunity Health Plan Washington

PolicyPrenatal Cell-free DNA Testing (Coverage Criteria)

Policy CodePolicy N/A

Change TypeRevised and added criteria (title updatesRhD alternate pathway added)

Effective DateN/A

Next Review DateN/A

Key ActionDocument required pretest counseling and limit maternal serum screening to one of the listed MSS options one time per pregnancy.

SourceLink

On This Page

Screening for common fetal aneuploidies (chromosomes 13, 18, 21, X, Y)

Screening for common fetal aneuploidies (chromosomes 13, 18, 21, X, Y):

Offering screening: cfDNA screening for common aneuploidies should be presented and offered to all pregnant women as part of prenatal screening optionsper ACOG practice bulletin

ACOG Practice Bulletin No. 226 recommends offering screening to all pregnant women regardless of maternal age or risk.

Guideline context: ACMG 2022 guidance provides conditional recommendations for offering some expanded screening (e.g., 22q11.2) in shared decision-making contextsper ACMG 2022 guideline

ACMG conditional recommendation for offering certain microdeletion screening after counseling.

Fetal RhD genotyping when maternal RhD negative, not planning amniocentesis, and RhIg shortages in practice setting (applies to CPTs 81403 and 81479)

Fetal RhD genotyping coverage in specific contexts:

RhD genotyping alternate pathway: Member is pregnant AND member is confirmed RhD negative AND member is not planning amniocentesis AND the member's practice setting is experiencing RhIg shortages

Applies to CPTs 81403 and 81479; supported by ACOG practice advisory to prioritize RhIg during shortages (March 2024).

RhD genotyping in alloimmunized patients: cfDNA fetal RHD genotyping may be used as an alternative in alloimmunized patients who decline amniocentesis

ACOG clinical practice update (Aug 2024) supports use among alloimmunized patients.

Fetal RhD genotyping in contexts such as RhIg shortages or alloimmunized patients

Fetal RhD genotyping may be reasonable in the following contexts:

RhD genotyping contexts: To prioritize RhIg allocation during RhIg shortages OR as an alternative tool for fetal RHD testing among alloimmunized patients who decline amniocentesis

Supported by ACOG practice advisory (March 2024) and clinical practice update (Aug 2024).

Penta screen (hCG, msAFP, uE3, DIA, ITA) — CPT 81512

Positive Predictive Value concern

PPV concern (most actionable)Positive predictive value for microdeletions and single-gene cfDNA screening is low due to the very low prevalence of individual targets, resulting in higher false-positive rates — consider investigative status and requirement for confirmatory diagnostic testing

Microdeletion PPV evidenceStudies validating microdeletion analysis via NIPS show low PPV and higher false positive rates, likely because of low prevalence of targeted syndromes (e.g., 22q11.2)

Counseling implicationPretest counseling should include discussion of limited PPV for rare conditions and impact of low prevalence on test performance

Posttest actionIncreased-risk or inconclusive results for rare targets should prompt posttest genetic counseling and confirmatory diagnostic testing before any irreversible action

Pretest counseling must include: test purpose, benefits/limitations, false-positive/false-negative risk, possible need for confirmatory diagnostic testing, and alternatives (including no testing).
Document that the patient’s preferences and informed choice were discussed and recorded in the medical record.
Arrange posttest genetic counseling for any positive, increased-risk, or inconclusive results; involve a genetic counselor or other knowledgeable provider.

Denial Risk

Investigational Indications and Denial Risk

Certain cfDNA testing indications are investigational and may be denied. Examples include microdeletion screening, single-gene disorder screening via cfDNA, twin zygosity testing alone (0060U) in many contexts, and cfDNA for other aneuploidies beyond 13, 18, and 21. These tests have limited clinical validation and low positive predictive values which may not improve health outcomes.

Do not rely on microdeletion or single-gene cfDNA results for definitive management; confirmatory diagnostic testing is required for any actionable result.
Twin zygosity (0060U) may be investigational for some indications—verify policy coding and coverage before ordering.

Eligibility and screening recommendations (e.g., cfDNA preferred for singleton and twin gestations per guidelines) often distinguish singleton from multiple gestations

ContrastDifferent test performance and guideline recommendations apply for twin or higher-order multiple pregnancies versus singleton pregnancies

Twin zygosity testing

Definition (most actionable)Twin zygosity testing — testing to predict monozygotic (genetically identical) versus dizygotic twin status; monozygotic twins have higher risk for complications such as twin–twin transfusion syndrome (TTTS)

Clinical implicationsZygosity information may affect assessment of chorionicity and pregnancy risk; limited data exist on the impact of zygosity assignment on outcomes and costs

Policy stancePrenatal cfDNA to predict twin zygosity is listed as investigational (not covered) in this policy due to insufficient evidence

Pretest counseling

Definition (most actionable)Pretest counseling — a discussion with the patient of benefits, limitations, alternatives (including diagnostic testing or declining testing), and the patient's values and preferences prior to cfDNA screening

ContentShould include explanation of false-positive/false-negative risks, potential causes of discordant results (e.g., placental mosaicism, vanishing twin), and whether extended panels are offered

Provider guidanceProviders should present cfDNA screening in the context of other prenatal screening and diagnostic options and involve trained genetics professionals when indicated

Posttest genetic counseling

Definition (most actionable)Posttest genetic counseling — counseling by a knowledgeable provider (e.g., genetic counselor) for patients with increased-risk, inconclusive, or atypical cfDNA results, including discussion of confirmatory diagnostic testing

When indicatedRecommended for patients with increased-risk or inconclusive results from cfDNA screening; confirmatory diagnostic testing may be indicated

AimEnsure patients understand screening limitations and avoid irreversible decisions based solely on cfDNA results

added_alternate_coverage_pathway

An alternate coverage pathway was added allowing fetal RHD genotyping via cfDNA to prioritize RhIg use during documented RhIg shortages.

2024-08expanded_guidance_for_alloimmunized_patientsLatest

ACOG clinical practice update supported use of cfDNA for fetal RHD genotyping as an alternative for alloimmunized patients who decline amniocentesis; policy added alternate criteria reflecting this guidance.