Concert Genetic Testing: Prenatal Diagnosis (Prenatal and pregnancy-loss genetic testing)
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Defines medical necessity criteria and coding considerations for genetic testing during pregnancy and following pregnancy loss for fetuses at increased risk of genetic disorders; applies to providers and members within the plan.
Changed nuchal translucency requirement to 3.0 mm for Noonan spectrum testing to better align with ACOG guidelines and literature.
Removed minimum gene list for Noonan spectrum disorders/RASopathies panels.
Updated coding table: added multiple CPT/PLA/Codes (0218U; 81178-81189; 81243; 81251-81259; 81285; 81329; 81231; 81336; 81362-81363; 81401-81407) and removed some older codes.
Coverage Criteria for Prenatal and Pregnancy-Loss Genetic Testing
Coding and Billing References
| 81228 | Chromosomal microarray (example listed under CMA common billing codes) |
| 81229 | Chromosomal microarray (example listed under CMA common billing codes) |
| 81265 | Chromosomal microarray (additional related code listed) |
| 88235 | Prenatal specimen processing (listed with karyotype and CMA) |
| 0469U | SNP microarray prenatal (listed) |
| 88261 | Karyotype banding and interpretation (listed under conventional karyotype) |
| 88262 | Karyotype associated code (listed) |
| 88263 | Karyotype associated code (listed) |
| 88264 | Karyotype associated code (listed) |
| 88267 | Karyotype associated code (listed) |
| 0218U | Listed in updated policy reference table |
| 81178 | Genetic test code added |
| 81179 | Genetic test code added |
| 81180 | Genetic test code added |
| 81181 | Genetic test code added |
| 81182 | Genetic test code added |
| 81183 | Genetic test code added |
| 81184 | Genetic test code added |
| 81185 | Genetic test code added |
| 81186 | Genetic test code added |
Provider Actions, Documentation, and Prior Authorization
Prior authorization may be required for referenced genetic test codes
Certain CPT and PLA codes are referenced for billing of CMA, karyotype, exome/genome, and targeted panels; providers should follow the Health Plan's prior authorization process when ordering these tests.
Prior authorization for listed genetic test codes — align with updated coding table
Prior authorization may be required for the updated list of CPT/PLA genetic testing codes; ensure submitted authorizations and claims use the codes in the policy's updated coding table.
Prior authorization guidance — coverage uses medical necessity criteria
Coverage and prior authorization decisions are based on the policy's medical necessity criteria, but the document does not specify an exact prior authorization process or discrete authorization codes in these excerpts.
- Follow Health Plan prior authorization procedures and medical necessity criteria when requesting coverage.
Testing sequence requirement — exome only after normal karyotype/CMA
Prenatal exome sequencing will be considered only after the current pregnancy has had karyotype and/or microarray testing performed with negative or normal results.
- Documentation of prior karyotype and/or CMA results showing negative/normal findings should be available when requesting exome sequencing.
Preferred testing sequence — targeted testing or CMA before broader sequencing
When a specific single-gene disorder is suspected, molecular testing (single-gene test or targeted gene panel) should be the initial test; for fetal structural anomalies, chromosomal microarray is recommended as the primary diagnostic test before broader sequencing.
- If a specific diagnosis is suspected: order targeted single-gene testing or an appropriate gene panel first.
- If ultrasound shows structural anomalies: perform CMA as the primary diagnostic test (replacing conventional karyotype).
Step therapy — none specified in excerpts
No formal step therapy requirements are specified in the provided excerpts.
- Clinical sequencing decisions should follow the policy criteria and professional judgment rather than a defined step-therapy protocol in these excerpts.
Genetic counseling documentation required for prenatal testing
Documentation that the member received pre-test counseling regarding benefits and limitations of prenatal screening and diagnostic testing is required for prenatal CMA, karyotype, and CMA on products of conception.
- Record that counseling occurred prior to invasive testing (amniocentesis, CVS, or PUBS) or testing of POC.
Required documentation for advanced testing (pretest counseling, indication, prior results)
When ordering advanced testing (exome or genome sequencing), providers should document pretest counseling (ideally by a genetics professional), the specific clinical indication, and prior testing results.
- Document the clinical indication (e.g., fetal structural anomaly, non-immune hydrops fetalis, recurrent pregnancy loss).
- Include prior karyotype and/or CMA results showing they were non-diagnostic.
Documentation and administrative compliance — follow coverage documents and law
Providers must comply with the terms, conditions, exclusions, and limitations in the member's coverage documents and applicable state and federal requirements when seeking coverage.
- Coverage decisions are subject to evidence of coverage, certificates of coverage, plan contracts, and legal/regulatory requirements.
Indication-based denials — tests outside listed criteria may be denied
Tests performed for indications outside the policy's listed medically necessary criteria (for example, CMA or exome sequencing for non-covered indications) may be denied.
- Ensure the indication matches the policy's covered indications (e.g., fetal structural anomaly, NIHF, recurrent pregnancy loss) before ordering.
Coding and indication mismatch — updated codes may affect billing
Updates to the coding table — including addition and removal of CPT/PLA codes — may affect billing; lack of an appropriate documented indication consistent with policy criteria could trigger claim denial.
- Verify that the code billed matches the clinical indication and the policy's updated code list.
Denial risk from benefit limits — subject to contract terms and exclusions
Coverage is governed by the member's contract; claims may be denied or limited based on plan exclusions, limitations, or other benefit terms.
- Review the member's evidence of coverage and plan contract for applicable exclusions or limits before ordering testing.
Professional judgment reminder — policy not medical advice
The policy does not constitute medical advice; providers are expected to exercise professional medical judgment and remain responsible for clinical decisions.
- Use the policy as a guideline for coverage, not a substitute for clinical judgment.
Shared decision-making and counseling recommendation
Testing decisions should be made jointly by the patient (mother/parents) and the treating clinician; shared decision-making and genetic counseling are strongly recommended.
- Ensure counseling is provided and that the patient participates in testing decisions.
Pretest counseling ideally by genetics professional (ACMG/ACOG alignment)
Pretest counseling for complex prenatal testing is ideally provided by a genetics professional; obstetric clinicians should counsel patients on testing options but genetics expertise is preferred for pretest counseling.
- Laboratories offering prenatal ES should provide rapid turnaround times and counseling pathways; post-test counseling by genetics professionals is recommended.
Ordering provider scope — no specialist-only restriction stated
No ordering-provider specialty restriction is stated; providers retain independent judgment and may order tests consistent with the policy and clinical indications.
- Ensure orders include required documentation and meet policy criteria regardless of ordering provider specialty.
Eligibility Requirements and Preconditions
Eligibility criteria for each test are set out in the specific coverage sections above (e.g., prenatal CMA, prenatal karyotype, prenatal exome, targeted panels). Top‑level, cross‑test eligibility nodes are not defined separately in this policy; instead, eligibility is determined by meeting the individual test‑specific criteria.
When considering advanced prenatal or pregnancy‑loss testing, the policy references clinical context such as a history of a previous affected pregnancy or relevant family history as pertinent to risk assessment. Documentation of prior pregnancy outcomes and family history may influence test selection and medical necessity determinations.
The policy language was revised to emphasize consideration of a history of a previous affected pregnancy or family history when evaluating need for genetic testing; this wording clarifies that prior affected pregnancies are an important eligibility consideration for some single‑gene and recurrence‑risk evaluations.
Eligibility requirements referenced elsewhere in the policy (for example, counseling requirements and procedure‑specific criteria) should be reviewed in those sections; elements such as documented pre‑test counseling and the clinical indication for testing are required for prenatal CMA, karyotype, and CMA on products of conception.
For prenatal exome sequencing, the policy requires that standard cytogenetic testing such as conventional karyotype and/or chromosomal microarray be performed with negative or normal results before exome sequencing is considered, consistent with ACMG guidance and the policy's sequencing requirements.
The policy states that for use of exome sequencing in the evaluation of fetal anomalies, standard CMA and karyotype should have failed to yield a diagnosis prior to considering exome sequencing. This aligns with professional guidance that recommends a stepwise approach beginning with cytogenetic testing.
Additional eligibility considerations referenced across sections include documentation of pre‑test counseling, the specific clinical indication (e.g., fetal structural anomaly, non‑immune hydrops fetalis, recurrent pregnancy loss), and prior testing results. These elements should be present in the medical record when requesting advanced or sequencing‑based tests.
Definitions and Key Terms
Tests and Uses Not Covered
The policy explicitly states that prenatal genome sequencing (WGS) is not supported for any indications covered by this document, and routine use of WGS/ES outside of research or clinical trial settings is not recommended pending additional validation and peer‑reviewed evidence.
Routine application of WES/WGS for prenatal diagnosis outside clinical trials or outside the narrow clinical scenarios described in this policy is not supported. Professional guidance (ACOG/SMFM) cautions against routine use until sufficient validation studies and peer‑reviewed data are available.
This policy does not list additional explicit test exclusions beyond the not‑medically‑necessary statements; coverage remains subject to the member's benefit documents, applicable state and federal law, and plan‑level administrative policies.
Background and Evidence Summary
Genetic testing in pregnancy can identify fetal chromosomal and genetic disorders and may be used after pregnancy loss to attempt to determine etiology. Decisions about prenatal diagnostic testing or testing after pregnancy loss should be made jointly by the mother/parents and treating clinician, and genetic counseling is strongly recommended to facilitate informed decision‑making.
The literature and guidelines cited in the policy provide examples of clinical indications where sequencing or targeted panels have demonstrated diagnostic yield, including skeletal dysplasias, RASopathies/Noonan spectrum disorders, and non‑immune hydrops fetalis (NIHF). These conditions are discussed in the policy rationale and supporting references as contexts where targeted or sequencing tests may be appropriate.
Policy Revision History and Changes
Changed nuchal translucency (NT) threshold for Noonan spectrum/RASopathy testing to ≥3.0 mm to better align with ACOG guidelines and published literature.
Removed the minimum gene list requirement for Noonan spectrum disorders/RASopathies panels (policy now recommends broad NGS rasopathy panels when suspected).
Updated policy reference table and coding: added multiple CPT/PLA codes (including 0218U; 81178–81189; 81243; 81251–81259; 81285; 81329; 81231; 81336; 81362–81363; 81401–81407) and removed older codes (e.g., 81271, 81274).
Selected bibliographic references supporting the policy include guideline and primary literature sources such as Krakow et al. (skeletal dysplasia guidelines), ACMG points‑to‑consider on fetal exome sequencing, Stuurman et al. (RASopathies), Zhou et al. (WGS in fetal structural anomalies), Scocchia et al. (NGS panels in skeletal dysplasia), and Al‑Kouatly et al. (meta‑analysis of ES in NIHF). Approximately a dozen references are cited to underpin coverage recommendations.
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