DraftBlue Cross Blue Shield - Rhode IslandPolicy N/A

Prenatal (Fetal) Diagnostic Testing

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This policy governs coverage and prior authorization for invasive prenatal fetal molecular testing, including testing for single-gene disorders and copy number variants, under Blue Cross Blue Shield of Rhode Island Medicare Advantage and commercial products.

Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyPrenatal (Fetal) Diagnostic Testing

Policy CodePolicy N/A

Change TypeNo material change

Effective DateJan 1, 202754d

Last ReviewSep 16, 2026

Next Review DateN/A

Key ActionObtain prior authorization through the ordering physician before performing any specified IriSight prenatal test.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

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DraftBlue Cross Blue Shield - Rhode IslandPolicy N/A

Prenatal (Fetal) Diagnostic Testing

Customize your policy alerts

Sign up for all Blue Cross Blue Shield - Rhode Island policy alerts

Know when Blue Cross Blue Shield - Rhode Island releases new policies or updates existing guidance.

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Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyPrenatal (Fetal) Diagnostic Testing

Policy CodePolicy N/A

Change TypeNo material change

Effective DateJan 1, 202754d

Last ReviewSep 16, 2026

Next Review DateN/A

Key ActionObtain prior authorization through the ordering physician before performing any specified IriSight prenatal test.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

3Specified IriSight prenatal tests

3Inheritance-risk pathways

3Specified tests requiring prior authorization

Not coveredMedicare Advantage NGS coverage

Not medically necessaryCommercial NGS coverage

Medical Necessity and Product Coverage

Medical necessity for invasive single-gene prenatal testing

Invasive diagnostic prenatal fetal molecular testing may be considered medically necessary when the pregnancy is at high risk for a single-gene disorder and at least one of the following pathways applies.

At least one high-risk inheritance pathway

Autosomal dominant condition
- At least one parent has a known pathogenic variant.At least one parent
Autosomal recessive condition
- Both parents are carriers
  - Both parents are suspected to be carriers or are known to be carriers.Both parents
- Affected parent and carrier parent
  - One parent is clinically affected and the other parent is suspected to be or is a known carrier.One affected parent plus one suspected or known carrier
X-linked condition
- A parent is suspected to be or is a known carrier.At least one parent

Single-gene prenatal testing with a known familial variant

Invasive prenatal single-gene molecular testing may be considered medically necessary when a known pathogenic familial variant is being evaluated.

Known familial pathogenic variant

The fetus or family member is being evaluated for a known pathogenic familial variant associated with a single-gene disorder.
For a known pathogenic familial variant, the sensitivity and specificity of testing for the variant in other family members are expected to be very high.

Prenatal next-generation sequencing evidence limitation

The evidence is insufficient to determine that invasive prenatal next-generation sequencing improves the net health outcome.

Evidence limitation

Systematic reviews demonstrate incremental diagnostic yields of exome sequencing over chromosomal microarray, but direct outcomes data comparing management with and without next-generation sequencing are lacking; concerns also remain regarding interpretation of variants of uncertain significance and the clinical relevance of incidental findings.
The evidence is insufficient to determine improvement in net health outcome.

For Medicare Advantage Plans, next-generation sequencing used in invasive prenatal testing is not covered. This limitation applies to the use of next-generation sequencing in the invasive prenatal setting, even when other medical criteria may be met.

For Commercial Products, next-generation sequencing in invasive prenatal testing is not medically necessary because the available evidence is insufficient to determine the technology’s effects on health outcomes.

An unauthorized laboratory service will be denied as the financial liability of the participating laboratory and may not be billed to the member. Authorization and related medical-necessity documentation must be handled by the ordering physician; laboratories and third parties may not obtain authorization or participate in the authorization or appeal process on the physician’s behalf.

For self-funded groups that have excluded expanded biomarker-testing coverage related to the state mandate, certain genetic testing services may be subject to a contract exclusion. Providers must consult the applicable Benefit Booklet to determine whether the member’s plan includes customized coverage and review the related Genetic Testing Services or Proprietary Laboratory Analyses policy coding information.

For Commercial Products, next-generation sequencing in the setting of invasive prenatal testing is not medically necessary because evidence is insufficient to determine its effects on health outcomes. The ordering physician remains responsible for meeting applicable medical criteria and following the required authorization process.

Covered Prenatal Testing Indications

Autosomal dominant inheritance pathway

Invasive prenatal molecular testing may be considered medically necessary when the fetus is at high risk for an autosomal dominant single-gene condition and the applicable authorization requirements are met.

Autosomal dominant inheritance

At least one parent has a known pathogenic variant.At least one parent

X-linked inheritance pathway

Invasive prenatal molecular testing may be considered medically necessary when the fetus is at high risk for an X-linked condition and the applicable authorization requirements are met.

X-linked inheritance

A parent is suspected to be or is a known carrier.

Eligibility and Prerequisites

A pregnancy may be considered at increased risk for an inherited genetic condition when there is a family history with a suggestive inheritance pattern, a previously affected pregnancy, or membership in a subpopulation with an elevated frequency of a particular autosomal recessive condition. Coverage criteria also require documentation consistent with the suspected inheritance pattern, such as a parental pathogenic variant, carrier status, or clinically affected status.

For most single-gene prenatal testing, the familial pathogenic variant must be known before testing. Invasive testing may be considered when the fetus or family member is being evaluated for a known pathogenic familial variant associated with a single-gene disorder.

Covered Codes and Test Categories

Specified IriSight prenatal testsCPTCovered

0335U	IriSight ™ Prenatal Analysis -Proband (Variantyx, Inc.)
0336U	IriSight ™ Prenatal Analysis -Comparator (Variantyx, Inc.)
0469U	IriSight ™ CNV Analysis (Variantyx Inc.)

Medically necessary whole-genome prenatal analysis codesCPTCovered

0335U

Rare diseases (constitutional/heritable disorders), whole genome sequence analysis, including small sequence changes, copy number variants, deletions, duplications, mobile element insertions, uniparental disomy (UPD), inversions, aneuploidy, mitochondrial genome sequence analysis with heteroplasmy and large deletions, short tandem repeat (STR) gene expansions, fetal sample, identification and categorization of genetic variants

0336U

Rare diseases (constitutional/heritable disorders), whole genome sequence analysis, including small sequence changes, copy number variants, deletions, duplications, mobile element insertions, uniparental disomy (UPD), inversions, aneuploidy, mitochondrial genome sequence analysis with heteroplasmy and large deletions, short tandem repeat (STR) gene expansions, blood or saliva, identification and categorization of genetic variants, each comparator genome (eg, parent)

Medically necessary fetal whole-genome and CNV analysisCPTCovered

0469U

Rare diseases (constitutional/heritable disorders), whole genome sequence analysis for chromosomal abnormalities, copy number variants, duplications/deletions, inversions, unbalanced translocations, regions of homozygosity (ROH), inheritance pattern that indicate uniparental disomy (UPD), and aneuploidy, fetal sample (amniotic fluid, chorionic villus sample, or products of conception), identification and categorization of genetic variants, diagnostic report of fetal results based on phenotype with maternal sample and paternal sample, if performed, as comparators and/or maternal cell contamination

Authorization, Documentation, and Billing Responsibilities

Prior Authorization

IriSight Proband Prior Authorization Required

Prior authorization is required for IriSight™ Prenatal Analysis – Proband before the test is performed.

CPT code 0335U

Prior Authorization

IriSight Comparator Prior Authorization Required

Prior authorization is required for IriSight™ Prenatal Analysis – Comparator before the test is performed.

CPT code 0336U

Prior Authorization

IriSight CNV Prior Authorization Required

Prior authorization is required for IriSight™ CNV Analysis before the test is performed.

Exclusions and Noncovered Services

Next-generation sequencing for invasive prenatal testing is not covered for Medicare Advantage Plans and is not medically necessary for Commercial Products because evidence is insufficient to determine effects on health outcomes. Certain genetic testing services may also be contract exclusions for self-funded groups that have excluded expanded biomarker-testing coverage related to the state mandate; consult the applicable benefit documents.

Clinical Background

Invasive prenatal diagnostic testing directly analyzes fetal tissue obtained through procedures such as chorionic villus sampling or amniocentesis. Molecular analysis may evaluate single-gene disorders, copy number variants using chromosomal microarray technology, and other genetic alterations in pregnancies at increased risk based on prenatal screening, family history, or parental carrier or disease status. Results may inform reproductive decisions, prenatal treatment, delivery planning, or pregnancy-management decisions.

Key Genetic Testing Terms

Single-gene disorder

DefinitionA genetic disorder caused by errors in a specific gene.

Typical variant typeMost single-gene disorders are caused by single-nucleotide variants.

Other typical variantsSome are caused by very small deletions or duplications.

Chromosomal microarray

DefinitionChromosomal microarray testing analyzes gains and losses of DNA across the genome.

Genomic findingsThe gains and losses are known as copy number variants (CNVs).

Examples

Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyPrenatal (Fetal) Diagnostic Testing

Policy CodePolicy N/A

Change TypeNo material change

Effective DateJan 1, 202754d

Last ReviewSep 16, 2026

Next Review DateN/A

Key ActionObtain prior authorization through the ordering physician before performing any specified IriSight prenatal test.

SourceLink

On This Page

Known pathogenic familial variant

Invasive prenatal molecular testing may be considered medically necessary for a single-gene disorder when the applicable authorization requirements are met.

Known familial pathogenic variant

A known pathogenic familial variant associated with the single-gene disorder is being evaluated.
Testing of the familial variant in other family members is expected to have very high sensitivity and specificity.

Whole-genome sequencing and related fetal genomic analysis

Whole-genome sequencing and related fetal genomic analysis may be considered medically necessary when the medical criteria in the policy are met.

Covered fetal genomic analysis

One of the specified codes
- CPT code 0335U: whole-genome sequence analysis of a fetal sample for rare constitutional or heritable disorders, including small sequence changes, copy number variants, deletions, duplications, mobile element insertions, uniparental disomy, inversions, aneuploidy, mitochondrial genome findings, short tandem repeat gene expansions, and identification and categorization of genetic variants.
- CPT code 0336U: whole-genome sequence analysis of blood or saliva from each comparator genome, such as a parent, for rare constitutional or heritable disorders and identification and categorization of genetic variants.
- CPT code 0469U: fetal-sample whole-genome sequence analysis for chromosomal abnormalities, copy number variants, duplications or deletions, inversions, unbalanced translocations, regions of homozygosity, inheritance patterns indicating uniparental disomy, and aneuploidy, with a fetal diagnostic report based on phenotype and maternal and paternal samples, if performed, as comparators and/or for maternal cell contamination.

Documentation Required

Ordering Physician Documentation Responsibility

The ordering physician is responsible for submitting documentation demonstrating clinical appropriateness and meeting applicable medical criteria for prior authorization.

Submit the required clinical-appropriateness documentation through the ordering physician.

Note

Verify Member-Specific Benefits

Benefits may vary by group and contract. Verify coverage under the member’s applicable Benefit Booklet, Evidence of Coverage, or Subscriber Agreement.

Confirm member-specific benefits and coverage before ordering the test.

Documentation Required

Use an Appropriately Regulated Laboratory or Test

Use a test with the applicable regulatory status: an FDA-cleared or FDA-approved test, or testing performed in an appropriately regulated high-complexity CLIA-certified laboratory, as applicable.

Laboratory-developed tests must meet applicable CLIA standards.
Laboratories offering laboratory-developed tests must be licensed by CLIA for high-complexity testing.

Denial Risk

Unauthorized Laboratory Service

If a participating laboratory provides a laboratory service that was not authorized, the service will be denied as the financial liability of the participating laboratory and may not be billed to the member.

Unauthorized services are not billable to the member.

Denial Risk

Product-Specific NGS Exclusion

The ordering physician must meet the applicable medical criteria. For Medicare Advantage, invasive prenatal next-generation sequencing is not covered; for Commercial Products, it is not medically necessary because evidence is insufficient to determine its effect on health outcomes.

Applies to the use of next-generation sequencing in invasive prenatal testing.

Denial Risk

Improper Authorization Assistance

Laboratories, laboratory representatives, and third parties with a relationship to a laboratory may not obtain authorization on behalf of the ordering physician or facilitate any portion of the authorization process or a subsequent appeal, including preparation of clinical-appropriateness documentation.

Violation of this policy may result in severe action, up to and including termination from the BCBSRI provider network.

Billing Rule

Only the Ordering Physician May Handle Authorization

Only the ordering physician may participate in prior authorization, appeals, or other administrative processes related to prior authorization or medical necessity.

Laboratories may not handle authorization, appeals, or related administrative processes on the ordering physician’s behalf.

A deletion reflects missing genomic material; a duplication reflects additional genomic material at a location.

Variant of uncertain significance

DefinitionA copy number variant that has not been adequately identified, reported, represented in databases, or associated with a known disease-causing gene.

Evidence limitationThe CNV may not have been previously identified in a laboratory's patient population or reported in the medical literature.

Database limitationThe CNV may not be found in publicly available databases.

Gene association limitationThe CNV may not involve a known disease-causing gene.

Invasive prenatal testing

DefinitionDirect testing of fetal tissue obtained through an invasive prenatal procedure.

Chorionic villus samplingChorionic villus sampling (CVS) collects placental cells derived from the same fertilized egg as the fetus.

AmniocentesisAmniocentesis removes a small sample of fluid surrounding the fetus that contains cells shed primarily from fetal tissues and the amnion.

Variant of uncertain significance

DefinitionA variant whose clinical significance remains uncertain.

Phenotype relationshipThe variant's relationship to the patient's phenotype has not yet been established.

Clinical interpretationAvailable evidence does not yet establish whether the variant explains the patient's clinical findings.

Laboratory-developed test

DefinitionA test developed and validated in-house by a clinical laboratory.

How it is offeredThe test is marketed as a laboratory service rather than as an FDA-cleared or FDA-approved test.

Laboratory requirementThe laboratory offering the test must be licensed under CLIA for high-complexity testing.

Single-gene (Mendelian) disorder

DefinitionA disorder caused primarily by a pathogenic variant in a single gene.

Inheritance patternsMendelian disorders may be inherited through autosomal dominant, autosomal recessive, X-linked dominant, or X-linked recessive transmission.

Prenatal testing considerationFor most single-gene disorders, prenatal testing requires knowledge of the familial variant.