Community Health Plan Washington prenatal testing Policy Update

Coverage Criteria

inv-01: CMA for Prenatal Diagnosis

Chromosomal microarray analysis (CMA) for prenatal diagnosis via amniocentesis, CVS, or PUBS may be considered medically necessary when:

CMA prenatal necessity: A. The member/enrollee has received counseling regarding the benefits and limitations of prenatal screening and diagnostic testing (including chromosome microarray via amniocentesis, CVS, or PUBS).

CMA is investigational for all other indications.

inv-02: Conventional Karyotype for Prenatal Diagnosis

Conventional karyotype analysis for prenatal diagnosis via amniocentesis, CVS, or PUBS may be considered medically necessary when:

Karyotype prenatal necessity: A. The member/enrollee has received counseling regarding the benefits and limitations of prenatal screening and diagnostic testing (including karyotyping via amniocentesis, CVS, or PUBS).

Karyotype is investigational for all other indications; note recommending CMA as primary test when fetus has major structural abnormalities on ultrasound.

inv-03: CMA for Pregnancy Loss (POC)

Chromosomal microarray analysis (CMA) on products of conception (POC) may be considered medically necessary as an alternative to conventional karyotype analysis when:

CMA POC necessity: A. The member/enrollee meets one of the following: (1) history of recurrent pregnancy loss OR (2) pregnancy loss at or greater than 20 weeks of gestation (e.g., IUFD or stillbirth); AND B. The member/enrollee has received counseling regarding the benefits and limitations of chromosome microarray analysis on products of conception.gestational age >= 20 weeks or recurrent loss definition applies

CMA on POC is investigational for other indications.

inv-04: Conventional Karyotype for Pregnancy Loss (POC)

Conventional karyotype analysis on products of conception (POC) may be considered medically necessary when:

Karyotype POC necessity: A. The member/enrollee has a history of recurrent pregnancy loss (defined as two or more failed clinical pregnancies).

Karyotype on POC is investigational for other indications.

inv-05: Noonan Spectrum/RASopathies Prenatal Diagnosis

Prenatal diagnosis for Noonan spectrum disorders/RASopathies via gene panel testing may be considered medically necessary when:

Noonan panel prenatal criteria: A. Current pregnancy has had a normal karyotype and/or microarray; AND B. One of the following: (1) ultrasound finding of increased nuchal translucency or cystic hygroma >= 5.0 mm in the first trimester, OR (2) increased nuchal translucency >= 3.0 mm plus at least one of: distended jugular lymph sacs (JLS), hydrops fetalis, polyhydramnios, pleural effusion, or cardiac defects.nuchal translucency >=5.0 mm or >=3.0 mm per conditions

NGS panel of known rasopathy genes recommended after exclusion of chromosomal abnormalities; panels investigational for other indications.

inv-06: Skeletal Dysplasia Prenatal Diagnosis

Prenatal diagnosis for skeletal dysplasias via multigene panel testing may be considered medically necessary when:

Skeletal dysplasia panel criteria: A. Current pregnancy has one or more of the following ultrasound findings: long bones less than the 5th percentile (or >3 SD below mean), poor calvarial mineralization, fractures of long bones, bowed/bent long bones, poor vertebral mineralization, absent/hypoplastic scapula, or equinovarus; AND B. The ordered panel includes at minimum COL1A1, COL1A2, COL2A1, and FGFR3.long bone measurements <=5th percentile or >3 SD below mean

Refer to centers with skeletal dysplasia expertise; panels investigational for other indications.

inv-07: Exome Sequencing Prenatal Diagnosis

Prenatal diagnosis via exome sequencing may be considered medically necessary when:

Exome prenatal criteria: A. Current pregnancy had karyotype and/or microarray performed with negative/normal results; AND B. Alternate etiologies have been considered and ruled out when possible (e.g., environmental exposure, infection, maternal condition); AND C. Either (1) non-immune hydrops fetalis, OR (2) two or more major malformations on ultrasound affecting different organ systems.two or more major malformations

Pre- and post-test genetic counseling recommended; exome investigational for other indications.

inv-08: Genome Sequencing Prenatal Diagnosis

Prenatal diagnosis via genome sequencing:

Genome sequencing stance: Genome sequencing for prenatal diagnosis (listed CPT/HCPCS codes) is considered investigational.

Routine use of whole genome sequencing or whole exome sequencing for prenatal diagnosis is not recommended outside clinical trials or specific validated indications per specialty guidance.

inv-09: Investigational

Policy-level stances and guidance:

Prenatal genome sequencing investigational: Prenatal diagnosis via genome sequencing (using listed codes) is considered investigational.

ACOG/SMFM note that whole-genome sequencing is not yet recommended for routine prenatal diagnosis outside research; requests for listed codes will be considered investigational.

inv-10: CMA and Karyotype coverage

Covered when consistent with specialty society recommendations and the clinical context:

CMA for fetal structural anomalies: Chromosomal microarray analysis is recommended as the primary test for prenatal diagnosis when structural abnormalities are detected on ultrasound, as it can detect clinically significant copy number variants not identified by karyotype.

Per ACOG: ~6% detection of clinically significant CNVs in fetuses with structural anomalies and normal karyotype.

CMA availability for invasive testing: CMA should be made available to any patient choosing to undergo invasive diagnostic testing, even with a normal ultrasound and normal karyotype.

Per ACOG: ~1.7% yield in patients with normal ultrasound and normal karyotype.

CMA for pregnancy loss: Chromosomal microarray analysis of fetal tissue is recommended in evaluation of intrauterine fetal death or stillbirth when further cytogenetic analysis is desired.

Per ACOG/SMFM committee opinion #682.

inv-11: Exome sequencing

Exome sequencing covered in select scenarios:

Prenatal exome sequencing after negative CMA/karyotype: Exome sequencing may be considered for a fetus with ultrasound anomalies when standard CMA and karyotype have failed to yield a definitive diagnosis.

If a specific diagnosis is suspected, targeted single-gene testing or gene panel should be performed first; pre/post-test genetic counseling and rapid laboratory turnaround recommended.

Exome sequencing for NIHF: Exome sequencing should be considered in the diagnostic workup of non-immune hydrops fetalis (NIHF) with or without associated ultrasound findings.

Meta-analysis: >37% of NIHF cases have monogenic disorders detectable by ES.

inv-12: Targeted single-gene/panel testing

Targeted panel or single-gene testing when specific clinical features are present:

Noonan/RASopathy testing: Testing for RASopathy gene panels is recommended when increased nuchal translucency (>= 3.0 mm) or specified ultrasound features (e.g., distended jugular lymph sacs, hydrops, polyhydramnios, pleural effusion, cardiac defects) are present after chromosomal abnormalities have been excluded.NT >= 3.0 mm

NGS panel of known rasopathy genes preferred; PTPN11 testing may be considered where extensive panels are unavailable.

Skeletal dysplasia genetic testing: Referral to centers with expertise and consideration of a multigene panel is recommended for fetuses with long bone measurements <=5th centile or >3 SD below mean, abnormal mineralization, fractures, bowed long bones, or other suspicious ultrasound features.long bone measurements <=5th centile or >3 SD below mean

Panel should include common genes (e.g., COL2A1, FGFR3, COL1A1, COL1A2); high diagnostic yield reported.

inv-13: Notable coverage criteria revisions

Policy revisions and coverage criteria adjustments mentioned in this section

Noonan Spectrum Disorders - imaging threshold: Nuchal translucency requirement changed to 3.0 mm for consideration of testing for Noonan Spectrum Disorders.nuchal >= 3.0 mm

Aligns with ACOG guidance.

RASopathies gene list: Minimum gene list for RASopathies removed due to limited rationale.

Testing scope to be determined by other criteria.

Exome sequencing - IUGR: Definition of major malformations expanded to include fetal growth restriction/IUGR owing to higher diagnostic yield from exome sequencing.

Supports exome sequencing indications.

This policy does not address the use of conventional chromosome analysis, CMA, or FISH for preimplantation genetic testing or for evaluation of suspected chromosome abnormalities in the postnatal period. (See related policies for carrier screening, cell-free DNA, preimplantation genetic testing, and multisystem inherited disorder testing for guidance.)

The routine use of whole genome sequencing (WGS) or whole exome sequencing for prenatal diagnosis is not recommended outside of clinical trials or specific validated indications. Per ACOG/SMFM guidance, WGS (and routine WES) for prenatal diagnosis remains investigational until sufficient peer-reviewed validation is available; requests for prenatal genome sequencing will be considered investigational. Providers should limit use of broad sequencing approaches to the clinical indications enumerated in this policy or to research settings with appropriate consent and oversight.

A previously included criterion authorizing exome or genome sequencing on products of conception (POC) following pregnancy loss was removed from the policy due to low claim volume and has been deleted from the current criteria sets.

Any use of chromosomal microarray analysis, conventional karyotype, targeted single-gene or multigene panels, exome sequencing, or genome sequencing that does not meet the specific medical necessity criteria listed in this policy is considered investigational (not medically necessary). Coverage is limited to indications and conditions explicitly described in the criteria sections.

The following prenatal genome sequencing CPT/PLA codes are considered investigational and not medically necessary for routine prenatal diagnosis under this policy: 81425, 81426, 81427, 88235, 81265, 0335U, 0336U.

This clinical policy is intended as a guide to medical necessity and coverage determination. Final coverage decisions are subject to the member's Evidence of Coverage (EOC), plan contract terms, and applicable state and federal laws and regulations; the policy does not guarantee payment.

Covered Indications

Coding and Test Codes

Chromosomal Microarray Analysis (CMA) - PrenatalCPTCovered

81228	Chromosomal microarray analysis
81229	Chromosomal microarray analysis
81265	Genomic copy number variation analysis
88235	Cell culture; chromosomal analysis
0469U	CMA-related code (example listed)

Conventional Karyotype Analysis - Prenatal/Pregnancy LossCPTCovered

88235	Cell culture; chromosomal analysis
88261	Karyotype, prenatal (chorionic villus sample)
88262	Karyotype, prenatal
88263	Karyotype
88264	Karyotype
88267	Karyotype
88269	Karyotype
88280	Karyotype
88291	Karyotype

Targeted panels, Exome, Genome - PrenatalCPT

81404	Targeted gene panel, Noonan or skeletal dysplasia panels (example)
81405	Targeted gene panel
81406	Targeted gene panel
81407	Targeted gene panel
81408	Targeted gene panel (skeletal dysplasia)
81415	Exome sequencing, prenatal
81416	Exome sequencing, prenatal
81425	Genome sequencing
81426	Genome sequencing
81427	Genome sequencing

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1/2

Policy-referenced genetic test and sequencing codesmixed

81425	Genomic sequencing procedure, prenatal (listed in policy as part of genome sequencing investigational)
81426	Genomic sequencing procedure, prenatal (listed in policy as part of genome sequencing investigational)
81427	Genomic sequencing procedure, prenatal (listed in policy as part of genome sequencing investigational)
88235	Chromosome analysis (listed with genome sequencing statement)
81265	CPT/sequence code listed with genome sequencing statement
0335U	PLA code listed with genome sequencing statement
0336U	PLA code listed with genome sequencing statement
0218U	PLA code added to Prenatal Diagnosis for Single-Gene Disorders reference table
81178-81189	Range of molecular CPT codes added to policy reference table
81243	Molecular code added to policy reference table

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1/2

Referenced PLA codesmixed

0496U

PLA code added to CMA criteria

Nuchal translucency thresholds — details

Cystic hygroma threshold>= 5.0 mm (single‑trimester cystic hygroma)

NT with additional findings threshold>= 3.0 mm when accompanied by one or more specified ultrasound findings (e.g., JLS, hydrops, polyhydramnios, pleural effusion, cardiac defects)

ContextApplies to consideration of Noonan/RASopathy panel testing after exclusion of chromosomal abnormalities

Gestational age for IUFD/stillbirth

Gestational age threshold for IUFD/stillbirth>= 20 weeks gestation

Application

Provider Actions and Documentation Requirements

Prior Authorization

Prior Authorization and Documentation Required

Prior authorization may be required for certain prenatal and pregnancy-loss genetic tests. Document that the member received counseling about the benefits and limitations of prenatal screening and diagnostic testing (including CMA and karyotype via amniocentesis, CVS, or PUBS) when requesting authorization. Retain counseling documentation and medical records supporting the indication per policy, member evidence of coverage, and applicable state/federal rules.

Applicable tests: CMA (81228, 81229, 81265, 88235, 0469U), conventional karyotype codes (88235, 88261-88264, 88267, 88269, 88280, 88291), and other referenced PLA/CPT codes as noted in policy.
Authorization references may include newly added single-gene/panel CPT codes and PLA 0496U when applicable.
Coverage is subject to member's plan terms, exclusions, and limitations.

Documentation Required

Counseling and Coordination with Genetics Professionals

Providers must document pre-test genetic counseling for indicated tests. For prenatal CMA or karyotype and for CMA on products of conception, the record must show the member received counseling on benefits and limitations of testing. For tests requiring pretest genetic counseling (e.g., prenatal exome sequencing), ordering should be coordinated with a genetics professional and evidence of counseling should be included with the request.

Eligibility Requirements

For targeted single-gene prenatal molecular testing, knowledge of the familial pathogenic variant identified in an affected family member is typically required to support testing of the pregnancy. Absent a known familial variant, providers should consider appropriate targeted panels or other criteria-defined approaches described elsewhere in this policy.

Operational notes: ensure counseling documentation is present in the medical record before testing; follow plan prior authorization processes and reference the policy's coding tables when ordering genetic tests for prenatal diagnosis or pregnancy loss.

Prior to ordering targeted panels for Noonan/RASopathies or other targeted prenatal panels, the current pregnancy should have a documented normal karyotype and/or microarray result. For exome sequencing, prior karyotype and/or microarray with negative/normal results is required per the exome criteria.

A normal karyotype and/or chromosomal microarray must be documented for the current pregnancy before proceeding with targeted panel testing for Noonan/RASopathies or other condition-specific panels, consistent with the policy's prior testing requirements.

Operational placeholder: coordinate testing orders with genetics professionals when pretest counseling or rapid-result platforms are indicated; see counseling and prior authorization sections for documentation requirements.

Placeholder: verify that ordered tests and laboratories meet any plan-specified requirements (e.g., CAP/CLIA accreditation) and that coding matches the policy reference table to support prior authorization and claims processing.

Not Covered / Investigational

Genome sequencing for prenatal diagnosis is considered investigational and is not covered under this policy. Additionally, any test indication that does not meet the specific medical necessity criteria described in the policy (including CMA, karyotype, targeted panels, exome, or genome sequencing outside their listed indications) is considered investigational and not covered.

Prenatal whole genome sequencing and similar comprehensive genome-wide tests are investigational for routine prenatal diagnosis per ACOG/SMFM guidance and the policy's explicit investigational stance; such requests are likely to be denied when submitted for routine prenatal indications.

Prenatal whole genome sequencing is considered investigational and not covered; the policy has also removed prior exome/genome sequencing criteria for products of conception (pregnancy loss) due to lack of claims volume and no longer supports those POC sequencing indications in current criteria.

A specific prior criterion that allowed exome or genome sequencing for evaluation of pregnancy loss on products of conception has been removed from the policy because it was infrequently used in claims; it is no longer included among covered indications.

Background

Prenatal diagnostic testing obtains fetal or placental samples via amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS) to evaluate for chromosomal and genetic conditions. The testing modalities in this policy (CMA, karyotype, targeted panels, exome) are used to identify copy-number variants, structural chromosomal abnormalities, single-gene disorders, or sequence-level variants that may explain fetal anomalies or pregnancy loss. For pregnancy loss evaluation, testing of products of conception can clarify causes of recurrent loss or stillbirth but may be limited by factors such as specimen quality, culture failure, or maternal cell contamination.

Definitions

Major malformations — definition and examples

DefinitionMajor malformations are structural defects that have a significant effect on function or appearance; may be lethal or associated with severe or moderate immediate or long‑term morbidity.

Cardiac examplesComplex heart malformations (e.g., pulmonary valve stenosis, tetralogy of Fallot, transposition of the great arteries, coarctation of the aorta, hypoplastic left heart syndrome)

Neural tube/CNS examplesAnencephaly, hydrocephalus, myelomeningocele

Musculoskeletal examplesOsteochondrodysplasia/osteogenesis imperfecta, clubfoot

Recurrent pregnancy loss (RPL)

DefinitionRecurrent pregnancy loss (RPL) is defined as two or more failed clinical pregnancies, including a current loss if applicable.

Provider Messaging & Alerts

Step Therapy

Testing sequence preference — CMA recommended first for structural anomalies

When fetal structural anomalies are present, chromosomal microarray analysis (CMA) is recommended as the primary test; providers should perform CMA first when criteria are met and document rationale if alternate testing is pursued.

ACOG recommends CMA as primary diagnostic test for fetuses with structural anomalies.
Document prior testing results and rationale for sequencing choices in the record.

Denial Risk

CMA investigational uses — denial risk for out-of-criteria indications

Chromosomal microarray analysis (CMA) is investigational for indications outside those with documented counseling and met criteria; ordering CMA without meeting policy criteria may result in denial.

CMA for prenatal diagnosis is investigational for all other indications per policy.
Ensure counseling and criteria documentation to avoid denial risk.

Revision History

2024-11policy_reviewLatest

Document updated to V1.2025 with last revision noted as November 2024; overall semi-annual review cycle maintained.

2024-04-24criteria_revision

Nuchal translucency (NT) requirement for consideration of testing for Noonan spectrum/RASopathies was changed to >=3.0 mm to align with ACOG guidance and published literature.

2024criteria_revision

OpenPayer

Concert Genetic Testing: Prenatal Diagnosis (via Amniocentesis, CVS, or PUBS) and Pregnancy Loss