CurrentNeighborhood Health Plan of Rhode IslandPolicy N/A

Circulating cell-free DNA (ccfDNA) aneuploidy testing — Coverage criteria

Defines coverage, prior authorization, and clinical guidance for ccfDNA aneuploidy screening in pregnancy for Neighborhood Health Plan of Rhode Island members across specified lines of business.

Policy Summary

PayerNeighborhood Health Plan of Rhode Island

PolicyCirculating cell-free DNA (ccfDNA) aneuploidy testing — Coverage criteria

Policy CodePolicy N/A

Change TypeMinor review — no material changes

Effective DateN/A

Next Review DateFeb 12, 2025

Key ActionObtain prior authorization before ordering ccfDNA testing and document pre- and post-test genetic counseling.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

Singleton or twinGestations supported for coverage

>2 fetusesNot covered

Prior authAuthorization requirement

02/12/25Policy last review

Microdeletions not recommendedScope limitation

Trek Health ingests and normalizes Transparency in Coverage data and payer policy updates to give provider organizations a clear view of how commercial reimbursement behaves across markets, payers, and services. Our platform transforms raw payer disclosures into structured intelligence that supports contract evaluation, payer negotiations, and service line strategy. By combining market benchmarks with ongoing policy visibility, Trek helps teams identify variability, risk, and opportunity in commercial reimbursement. The result is faster insight, stronger negotiating positions, and more informed financial decisions.

Coverage Criteria for ccfDNA Screening

Coverage criteria — ccfDNA screening

Covered when ALL of the following are met:

Gestation: Pregnancy is singleton or twin (gestations of greater than two fetuses are excluded).

Requests for testing for gestations >2 fetuses will be denied.

Authorization: Prior authorization is obtained before ccfDNA testing.

Genetic counseling: Appropriate pre- and post-test genetic counseling is provided and documented in accordance with ACOG/SMFM guidance.

Documentation should include counseling and, if applicable, referral for diagnostic testing for positive, indeterminate, inadequate, or not reported results.

Coverage for circulating cell-free DNA (ccfDNA) aneuploidy screening is limited to singleton or twin pregnancies. Requests for testing in gestations of >2 fetuses are not covered and will be denied. The policy also excludes coverage for the Extended Family Planning (EFP) line of business per plan rules.

Prior authorization is required before ccfDNA testing is performed; providers should obtain authorization in advance to avoid claim denials.

ccfDNA testing for single-gene disorders is not covered. This policy also states that routine screening for microdeletions with ccfDNA is not recommended and therefore is not supported as a covered indication.

Because ccfDNA is intended as a screening modality for common aneuploidies, use of the test outside those validated indications (for example, single-gene disorder screening or routine microdeletion panels) is not within the scope of coverage.

A negative ccfDNA result does not guarantee an unaffected pregnancy. Cell-free DNA screening does not detect all genetic anomalies or abnormalities, and a negative screen should not be interpreted as definitive.

Patients with positive, indeterminate, inadequate, or not-reported ccfDNA results — and patients with fetal anomalies — should be offered definitive diagnostic testing. Recommended diagnostic procedures to confirm suspected aneuploidy are chorionic villus sampling (CVS) in the first trimester or amniocentesis in the second trimester.

Provider Requirements and Prior Authorization

Prior Authorization

Prior Authorization Required

Prior authorization is required for circulating cell-free DNA (ccfDNA) aneuploidy testing. Submit a prior authorization request with clinical indication and relevant documentation prior to testing.

Applies to ccfDNA testing for singleton and twin pregnancies only
Requests for gestations >2 fetuses will be denied (not covered)

Step Therapy

Step Therapy / Diagnostic Confirmation

No step therapy is required for ccfDNA testing. Diagnostic confirmation with invasive testing (chorionic villus sampling or amniocentesis) is recommended for patients with positive, indeterminate, inadequate, or not reported ccfDNA results or when fetal anomalies are identified.

No prerequisite tests required prior to authorizing ccfDNA screening
Diagnostic confirmation recommended: CVS (first trimester) or amniocentesis (second trimester)

Background and Rationale

Circulating cell-free DNA (ccfDNA) screening analyzes fetal DNA fragments present in maternal blood to screen for common fetal aneuploidies including Trisomy 21, Trisomy 13, and Trisomy 18. ACOG and SMFM recommend that ccfDNA screening be offered to all appropriate singleton or twin pregnancies with documented pre- and post-test genetic counseling.

ccfDNA is a screening test with high sensitivity and specificity for the listed trisomies but is not diagnostic. Positive or indeterminate screening results should prompt discussion of and offer of diagnostic testing (CVS or amniocentesis). The test is not currently recommended for gestations of greater than two fetuses.

Definitions

Definition — ccfDNA testing (maternal blood-based screening)

TermCirculating cell-free DNA (ccfDNA)

Short descriptionMaternal blood–based screening that analyzes fetal DNA fragments in maternal circulation to screen for common fetal aneuploidies (Trisomy 21, Trisomy 13, Trisomy 18)

Intended useScreening for fetal chromosomal abnormalities in pregnancy (recommended to be offered to all singleton or twin pregnancies with appropriate pre- and post-test genetic counseling)

LimitationsDoes not detect all genetic anomalies; negative results do not guarantee an unaffected pregnancy; routine microdeletion screening not recommended

Coverage caveatNot covered for gestations of greater than two fetuses; single-gene disorder testing with ccfDNA is not covered

Policy Summary

PayerNeighborhood Health Plan of Rhode Island

PolicyCirculating cell-free DNA (ccfDNA) aneuploidy testing — Coverage criteria

Policy CodePolicy N/A

Change TypeMinor review — no material changes

Effective DateN/A

Next Review DateFeb 12, 2025

Key ActionObtain prior authorization before ordering ccfDNA testing and document pre- and post-test genetic counseling.

SourceLink

On This Page

Documentation Required

Genetic Counseling and Follow-up Documentation

Document that pre- and post-test genetic counseling was provided and include counseling notes in the prior authorization submission and medical record. For positive, indeterminate, inadequate, or not reported results, document counseling on the recommendation for diagnostic testing and recommended follow-up actions.

Include evidence of pre-test counseling in the chart and prior authorization request
Document post-test counseling and discussion of recommended confirmatory testing and referral to maternal-fetal medicine or genetics as appropriate
Record follow-up plan for inadequate or not reported results

Denial Risk

Gestations of >2 Fetuses — Not Covered

Requests for ccfDNA testing in pregnancies with more than two fetuses are not covered and will be denied.

Denial applies to any request specifying >2 fetuses

Definition — Diagnostic testing (CVS, amniocentesis)

TermDiagnostic testing (CVS, amniocentesis)

Short descriptionDefinitive invasive procedures to confirm aneuploidy: chorionic villus sampling (CVS) in the first trimester or amniocentesis in the second trimester

When indicatedOffered to patients with positive, indeterminate, inadequate, not reported ccfDNA results, or with fetal anomalies

RisksThese definitive procedures carry a risk of fetal harm or pregnancy loss

Confirmation guidanceIf ccfDNA is positive, diagnostic testing is recommended; if ccfDNA is negative, diagnostic testing generally not required to confirm negative status