CurrentCommunity Health Plan WashingtonPolicy N/A

V1.2025Concert Genetic Testing: Prenatal Cell-Free DNA Testing

Defines medical necessity criteria for prenatal cell-free DNA testing (cfDNA/NIPT) including aneuploidy (chromosomes 13, 18, 21, X, Y), microdeletions, single-gene disorders, maternal serum screening (MSS), and fetal RhD genotyping; lists CPT examples, investigational indications, and related guidance.

Policy Summary

PayerCommunity Health Plan Washington

PolicyV1.2025Concert Genetic Testing: Prenatal Cell-Free DNA Testing

Policy CodePolicy N/A

Change TypeRevisions to criteria sets and investigational listings

Effective DateN/A

Next Review DateN/A

Key ActionClaims for cfDNA aneuploidy testing should only be considered medically necessary if the member has NOT previously had cell-free DNA screening in the current pregnancy.

SourceLink

POLICY UPDATE CHANGES

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

Added requirement that member has NOT previously had cell-free DNA screening in the current pregnancy for aneuploidy testing.

Added coverage criteria for fetal RhD genotyping with specific conditions (RhD negative, not planning amniocentesis, RhIg shortages).

Clarified investigational status for microdeletions and single-gene disorder cfDNA testing.

1Medically Necessary Indications (primary aneuploidy panel & MSS/RhD conditions)

3Investigational Indication Categories (microdeletions, single-gene, twin zygosity)

Example CPT Codes Cited

Coverage Summary

Scope: This policy defines medical necessity criteria for prenatal cell-free DNA (cfDNA) testing used primarily to screen for common fetal aneuploidies (trisomy 21, 18, and 13) and sex chromosome aneuploidies (including fetal sex).

MSS alternative: Maternal serum screening (MSS) is an alternative prenatal screening modality and may be used as a one-time per pregnancy option (see MSS criteria).

Overall coverage stance: Coverage is mixed — cfDNA for the primary aneuploidy panel (13, 18, 21, X, Y) may be considered medically necessary under specified criteria, while expanded cfDNA indications (microdeletions, single-gene disorders, and other listed uses) are considered investigational.

Policy metadata and quick facts

Effective Date

Last Review Date2024-11-01

Next Review Date

SubjectPrenatal Cell-free DNA Testing

StatusCURRENT

Has Material Changetrue

Medical Necessity Criteria

Prenatal Cell-free DNA Testing for Chromosome 13, 18, 21, X and Y Aneuploidies

Prenatal cell-free DNA testing for 13, 18, 21, X and Y aneuploidy may be considered medically necessary when:

Medically necessary when ALL of the following are met

Pregnancy type: The member/enrollee has a singleton or twin pregnancy
CPT examples: 0327U, 81420, 81507
Prior cfDNA exclusion: The member/enrollee has NOT previously had cell-free DNA screening in the current pregnancy
Document prior cfDNA absence when claiming cfDNA aneuploidy testing

Notes: Positive or high-risk cfDNA results require confirmatory diagnostic testing (karyotype, FISH, or CMA).

Not Medically Necessary / Investigational Indications

Other investigational indications for prenatal cfDNA

Prenatal cfDNA testing is considered investigational for the following indications (any):

Investigational indications (any of the following)

Other aneuploidies: For all other aneuploidies (other than trisomy 13, 18, and 21)
Higher-order multiples: For multiple gestation pregnancies (triplets or higher)
Simultaneous MSS and cfDNA: Prenatal cell-free DNA performed simultaneously with maternal serum screening
Simultaneous independent screening approaches are not recommended

Coding

Covered / Medically Necessary ExamplesCPTCovered

0327U	Prenatal cfDNA for chromosome 13,18,21,X and Y (example test - Vasistera/Natera)
81420	Noninvasive prenatal testing (example/common code referenced)
81507	Prenatal cfDNA (Harmony example/BioReference)
81508	First trimester maternal serum screening (free or total beta-HCG and PAPP-A)
81509	Second trimester maternal serum screening (hCG, msAFP, uE3, DIA) - quad/related
81510	Second trimester maternal serum screening (component)
81511	Serum integrated screen, part 2
81512	Penta screen / integrated screens
81403	Fetal RhD NIPT (example UNITY Fetal RhD NIPT add on)
81479	Fetal RhD NIPT (example - Natera) / miscellaneous molecular pathology procedure

Investigational / Not Medically NecessaryCPTNot Covered

0060U	Prenatal cfDNA testing to predict twin zygosity (investigational)
81422	Prenatal cfDNA testing for microdeletions/microduplications (investigational)
81302	Single-gene cfDNA testing (investigational)
81404	Single-gene cfDNA testing (investigational)
81405	Single-gene cfDNA testing (investigational)
81406	Single-gene cfDNA testing (investigational)
81407	Single-gene cfDNA testing (investigational)
81408	Single-gene cfDNA testing (investigational)
81442	Single-gene cfDNA panel (investigational)
0488U	UNITY Fetal Antigen NIPT (single-gene/specialty) - investigational list includes similar codes

1–10 of 11

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Common ICD-10 Example Codes Associated with TestingICD-10

O09	Supervision of high-risk pregnancy (example family)
O28	Encounter for supervision of pregnancy with suspected fetal abnormality
O30	Multiple gestation
O35	Maternal care for known or suspected fetal abnormality
Q90-Q99	Chromosomal abnormalities (congenital)
Z34	Encounter for supervision of normal pregnancy
Z36.0	Encounter for antenatal screening for chromosomal anomalies
Z36.04	Encounter for antenatal screening - single gene disorders (example usage)

Provider Actions & Billing Impact

Documentation Required

Prior cfDNA in current pregnancy must be absent

Claims for cfDNA aneuploidy testing (13/18/21/X/Y) should only be considered medically necessary if the member has NOT previously had cell-free DNA screening in the current pregnancy.

0327U
81420
81507

Documentation Required

Singleton or twin pregnancy requirement

Document pregnancy type (singleton or twin) when ordering cfDNA for chromosome 13, 18, 21, X and Y aneuploidy.

0327U
81420

Background & Evidence

Purpose: Prenatal cfDNA is a screening sequencing test performed on placental cfDNA in maternal serum to assess risk for fetal aneuploidy (trisomy 21, 18, 13) and sex chromosome aneuploidies; it does not provide a definitive diagnosis.

Confirmatory testing: When cfDNA yields a positive or high-risk result, diagnostic confirmation (karyotype, FISH, or chromosomal microarray [CMA]) is required because cfDNA can produce false positives related to factors such as placental mosaicism or a vanishing twin.

Limited evidence for expanded uses: cfDNA has expanded to include screening for microdeletions/microduplications (CPT 81422) and single-gene disorders (CPTs 81302, 81404–81408, 81442, 0488U, 0489U), but clinical validation is limited and these indications are considered investigational.

MSS one-time options: Maternal serum screening (MSS) using no more than one of the listed approaches one time per pregnancy is considered medically necessary: first trimester (free/total beta-hCG and PAPP-A; CPT 81508), second trimester (hCG, msAFP, uE3, DIA; CPTs 81509–81512), integrated/stepwise/contingent screening (combination of CPTs 81508–81512), or penta screen (CPT 81512).

Guideline / Source	Key Point
ACOG/SMFM Practice Bulletin No. 226	cfDNA is the most sensitive and specific screening test for common fetal aneuploidies but can produce false positives; cfDNA is screening not diagnostic and one screening approach should be used (counsel about false positives).
ACMG 2022 NIPS Guideline	Conditional recommendation to offer screening for 22q11.2 deletion to patients; provides general guidance to offer NIPS over traditional screening for trisomies 21, 18, and 13 in singleton and twin gestations.

Prenatal Cell-free DNA Testing: A screening test that analyzes cell-free DNA in maternal blood to determine the risk of specific fetal genetic disorders.

Singleton pregnancy: A pregnancy with one fetus.

Twin zygosity testing: Testing intended to predict monozygotic versus dizygotic twin status (used to assess genetic similarity and related pregnancy risks).

Sequencing approaches: cfDNA analysis is typically performed using massively parallel sequencing (MPS/next-generation sequencing) or single nucleotide polymorphism (SNP)-based methods.

Revision History

11/24title_revision

Multiple criteria set titles updated across document; reference table and example tests updated.

04/24policy_text_change

Removed prior counseling language; clarified prior-screening exclusion.

03/23coding_specified

81403 and 81479 specified; investigational for other indications.

Policy Summary

PayerCommunity Health Plan Washington

PolicyV1.2025Concert Genetic Testing: Prenatal Cell-Free DNA Testing

Policy CodePolicy N/A

Change TypeRevisions to criteria sets and investigational listings

Effective DateN/A

Next Review DateN/A

Key ActionClaims for cfDNA aneuploidy testing should only be considered medically necessary if the member has NOT previously had cell-free DNA screening in the current pregnancy.

SourceLink

On This Page

See Overview and Coding Implications

Maternal Serum Screening (MSS)

Maternal serum screening for aneuploidy using no more than one of the following one time per pregnancy is considered medically necessary:

One-time per pregnancy (choose one)

First trimester screening (free or total beta-HCG and PAPP-A)
CPT 81508
Second trimester screening (hCG, msAFP, uE3, and DIA)
CPT 81509, 81510, 81511, 81512
Integrated/Sequential screening: Integrated, stepwise sequential, or contingent sequential screening
CPT 81508, 81509, 81510, 81511, 81512
Penta screen (hCG, msAFP, uE3, DIA, ITA)
CPT 81512

Coding notes: Use no more than one MSS option per pregnancy; simultaneous independent screening approaches are not recommended.

See ACOG guidance

Prenatal Cell-Free DNA Testing for Fetal RhD Genotyping

Prenatal cell-free DNA testing for fetal RhD genotyping is considered medically necessary when ALL of the following are met:

RhD genotyping medical necessity

Pregnant: The member is pregnant
RhD negative: The member is confirmed to be RhD negative
No planned amniocentesis: The member is not planning to undergo amniocentesis
RhIg shortages context: The member's practice setting is experiencing RhIg shortages
Use of cfDNA to prioritize RhIg during shortages is reasonable per ACOG

Investigational for other indications: Prenatal cell-free DNA testing for fetal RhD genotyping is investigational for all other indications

CPT 81403, 81479

Vanishing twin: Use on a singleton pregnancy with a known vanishing twin

Vanishing twin may lead to false-positive results

Fetal sex determination only: For the sole purpose of fetal sex determination

ACMG/ACOG discourage sex determination screening without clinical indication

Multiple gestation exclusions note: Twin zygosity testing (0060U), microdeletion testing (81422), single-gene cfDNA tests, and multiple gestations >= triplets have separate investigational criteria

See related investigational sections

Twin zygosity testing

Prenatal cell-free DNA testing to predict twin zygosity (CPT 0060U) is considered investigational.

Twin zygosity investigational: Prenatal cell-free DNA testing to predict twin zygosity is considered investigational

CPT 0060U

Prenatal Cell-free DNA Testing for Microdeletions and Microduplications

Prenatal cell-free DNA testing for microdeletions and microduplications (CPT 81422) is considered investigational.

Microdeletions/microduplications investigational: Prenatal cell-free DNA testing for microdeletions and microduplications is considered investigational

CPT 81422; low PPV and insufficient evidence to improve outcomes

Prenatal Cell-free DNA Testing for Single-gene Disorders

Prenatal cell-free DNA testing for mutations associated with single-gene disorders is considered investigational.

Single-gene cfDNA investigational: Prenatal cell-free DNA testing for mutations associated with single-gene disorders is considered investigational

CPT examples: 81302, 81404, 81405, 81406, 81407, 81408, 81442, 0488U, 0489U

Documentation Required

RhD genotyping contextual requirements

For fetal RhD genotyping (81403, 81479) document that the member is pregnant, is confirmed RhD negative, is not planning to undergo amniocentesis, and that the practice setting is experiencing RhIg shortages.

81403
81479

Denial Risk

Investigational indications denied

Claims for cfDNA testing for microdeletions, single-gene disorders, twin zygosity, multiple gestations (triplets or higher), use with a vanishing twin, simultaneous maternal serum screening and cfDNA, or testing solely to determine fetal sex are considered investigational and may be denied.

0060U
81422
81302
81404
81405
81406
81407
81408
81442
0488U
0489U

2024-11-01investigational_clarificationLatest

Microdeletions (81422) and single-gene panels/codes listed as investigational.