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ModifiedUnitedHealthcarePolicy CS017PA.AB

Chromosome Microarray Testing (Non-Oncology Conditions) (for Pennsylvania Only)

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Policy governs coverage and medical necessity criteria for chromosome microarray testing (aCGH/SNP array/low-pass sequencing) for non-oncology indications for UnitedHealthcare Community Plan members in Pennsylvania.

Policy Summary

PayerUnitedHealthcare

PolicyChromosome Microarray Testing (Non-Oncology Conditions) (for Pennsylvania Only)

Policy CodePolicy CS017PA.AB

Change TypeTerminology and documentation updates

Effective DateAug 1, 2026

Last ReviewAug 1, 2026

Next Review Date

Key ActionUse specified O35-series ICD-10 codes and include medical record documentation and evidence of pretest genetic counseling when requesting authorization for CMA in Pennsylvania.

SourceLink

POLICY UPDATE CHANGES

Replaced reference terms: 'Multiple anomalies' changed to 'multiple Congenital Anomalies' and 'Developmental Delay' changed to 'Global Developmental Delay'.

Added language clarifying that benefit coverage is determined by federal, state, or contractual requirements, and that medical records documentation may be required to assess clinical criteria but does not guarantee coverage.

Added definitions for Autism Spectrum Disorder and Congenital Anomaly; removed the definition of 'Prenatal Diagnosis' and updated definitions for Global Developmental Delay, Intellectual Disability, and Well-Delineated Genetic Syndrome.

Added a related policy link to 'Genetic Testing for Cardiac Disease (for Pennsylvania Only)' and removed links to certain oncology and FDA companion diagnostic policies.

Updated Description of Services, Clinical Evidence, and References to reflect current information and archived prior policy version CS017PA.AA.

Pennsylvania-onlyJurisdiction

aCGH / SNP / low-pass seqCovered modalities

Prenatal, ASD, CHD, GDD/IDCovered indications

5 updatedDefinitions changed

CS017PA.AAPrevious version

Coverage and Medical Necessity Criteria

Medically necessary (proven) indications

Chromosome microarray testing using aCGH and/or SNP array is proven and medically necessary when the following criteria are met:

Prenatal/fetal indications: Evaluation of an embryo or fetus in any of the following: intrauterine fetal demise or stillbirth; testing of products of conception after pregnancy loss; individuals undergoing invasive prenatal diagnostic testing (amniocentesis, chorionic villus sampling, or fetal tissue sampling)

Pre-test genetic counseling is strongly recommended; see documentation requirements.

Postnatal neurodevelopmental and congenital indications: Evaluation of an individual with one or more of the following: autism spectrum disorder; isolated severe congenital heart disease; multiple congenital anomalies that are not specific to a well-delineated genetic syndrome and cannot be identified by clinical evaluation alone; global developmental delay or intellectual disability when a specific syndrome is not suspected

CMA is recommended as a first‑tier test in these settings per professional guidance.

Family-member follow-up testing:

Policy Summary

PayerUnitedHealthcare

PolicyChromosome Microarray Testing (Non-Oncology Conditions) (for Pennsylvania Only)

Policy CodePolicy CS017PA.AB

Change TypeTerminology and documentation updates

Effective DateAug 1, 2026

Last ReviewAug 1, 2026

Next Review Date

Key ActionUse specified O35-series ICD-10 codes and include medical record documentation and evidence of pretest genetic counseling when requesting authorization for CMA in Pennsylvania.

SourceLink

On This Page

Covered indications with supporting evidence

Clinical contexts with published evidence of incremental CMA diagnostic yield or where CMA is commonly recommended/considered:

Fetal growth restriction (FGR): CMA provides an incremental diagnostic yield over karyotype in FGR, with greater yield when structural anomalies are present (pooled incremental yields reported approximately 3% for isolated FGR, 4% for FGR with soft markers/US abnormalities, and 10% for FGR with structural malformations)

Meta-analysis of 22 studies (Sapantzoglou et al.) supports highest applicability when structural anomalies coexist.

Increased nuchal translucency (NT): CMA detects additional clinically relevant CNVs beyond karyotype in fetuses with increased NT, with incremental yields reported in systematic reviews (e.g., pooled CNV detection ~4.3% in selected cohorts)

Persistence and NT thickness correlate with higher adverse outcome rates; consider broader testing algorithms including possible exome sequencing when CMA is negative.

Congenital heart defects (CHD): CMA yields a substantial detection rate for fetuses with CHD, particularly when extracardiac anomalies are present; studies report higher detection in CHD+other anomalies and recommend CMA especially when karyotype/FISH is normal

Meta-analyses report pooled chromosome abnormality proportions (e.g., overall ~23%; higher in CHD+SM) and incremental CMA yield over karyotype varies by CHD subtype.

Pregnancy loss / products of conception: CMA identifies clinically significant CNVs in products of conception and can clarify genetic causes of pregnancy loss, with different yields reported between products of conception series and prenatal testing cohorts

Single-center and pooled studies report clinically significant CNV yields supporting use in this context.

Neurodevelopmental conditions (ASD, GDD/ID): CMA supports diagnosis of genetic causes of autism spectrum disorder, global developmental delay, and intellectual disability and offers higher resolution than karyotype

Referenced cohort and guideline evidence support CMA as an informative diagnostic tool in these conditions.

Covered Indications per Clinical Guidelines

CMA is recommended or should be offered in the following prenatal and perinatal scenarios by major professional organizations:

Fetal structural abnormalities on ultrasound: Offer CMA for prenatal diagnosis when fetal structural anomalies are identified on ultrasound; CMA may replace conventional karyotype as the primary test in this setting

ACOG/SMFM/ACMG guidance supports CMA as primary testing for structural anomalies detected on ultrasound.

Stillbirth and intrauterine fetal death: Incorporate CMA into stillbirth workup and perform genetic analyses in stillbirth when parental permission is obtained, as CMA has improved detection and test success compared with karyotype

ACOG/SMFM and SOGC/CCMG recommend CMA in stillbirth evaluation when further cytogenetic analysis is desired.

Fetal growth restriction (FGR): Offer fetal diagnostic testing including CMA for FGR when malformations or polyhydramnios are present; consider CMA for unexplained isolated FGR diagnosed before 32 weeks<32 weeks for isolated FGR

SMFM and guideline statements note higher yield when anomalies coexist.

Increased nuchal translucency: Consider or offer CMA in fetuses with increased nuchal translucency (examples: NT ≥ 3.5 mm), recognizing diagnostic yield increases with greater NT thickness>=3.5 mm mentioned

SOGC/CCMG and meta-analyses support offering CMA at higher NT thresholds.

Postnatal developmental/neurodevelopmental indications: CMA is recommended as a first-tier test in the initial postnatal evaluation of individuals with multiple congenital anomalies, apparently nonsyndromic developmental delay/intellectual disability, and autism spectrum disorderfirst-tier

ACMG and AAP guidance recommend CMA as first-line testing in these settings.

Specific Covered Indications

inv-54: Prenatal evaluation for intrauterine fetal demise/stillbirth, products of conception after pregnancy loss, and individuals undergoing invasive prenatal testing (amniocentesis, CVS, fetal tissue sampling).

Prenatal evaluation contexts in which CMA is covered when clinical documentation supports the indication:

Stillbirth and products of conception: Evaluation of intrauterine fetal demise or stillbirth and testing of products of conception following pregnancy loss

CMA is recommended in stillbirth workup and for products of conception when further cytogenetic analysis is intended.

Invasive prenatal testing (CVS or amniocentesis): Individuals undergoing invasive prenatal diagnostic testing (chorionic villus sampling or amniocentesis) for suspected chromosomal abnormalities or abnormal prenatal screening results

CMA should be made available to patients undergoing invasive diagnostic testing per guidance.

Suspected fetal chromosomal abnormality (O35 series mapping): Suspected fetal chromosomal abnormality or other fetal abnormalities mapped to maternal care O35-series ICD-10 codes

Claims should include applicable O35-series diagnosis codes when requesting authorization.

inv-55: Postnatal evaluation for autism spectrum disorder.

CMA is covered postnatally for evaluation of neurodevelopmental disorders when criteria are met:

Autism Spectrum Disorder (ASD): Postnatal evaluation of an individual with autism spectrum disorder where a syndrome is not already established

ACMG and AAP recommend offering CMA as part of etiologic evaluation for ASD.

inv-56: Postnatal evaluation for isolated severe congenital heart disease.

CMA is covered for postnatal evaluation of certain congenital heart disease presentations when documentation supports the indication:

Isolated severe congenital heart disease: Postnatal evaluation of isolated severe congenital heart disease (including specified cardiac malformations) when a specific genetic syndrome is not suspected

Evidence reports incremental CMA yield in CHD and higher yields when extracardiac anomalies are present; consider CMA particularly for CHD with additional anomalies or specific CHD subtypes.

inv-57: Postnatal evaluation for multiple congenital anomalies not specific to a well-delineated genetic syndrome and not identifiable by clinical evaluation alone.

CMA is covered for evaluation of multiple congenital anomalies when clinical assessment cannot identify a specific syndrome:

Multiple congenital anomalies: Postnatal evaluation of individuals with multiple congenital anomalies not attributable to a well‑delineated genetic syndrome and not identifiable by clinical evaluation alone

ACMG recommends CMA as a first‑tier test in this context.

inv-58: Global developmental delay/intellectual disability when a specific syndrome is not suspected.

CMA is covered for the initial postnatal evaluation of developmental delay or intellectual disability when a specific syndrome is not suspected:

Global developmental delay / intellectual disability: Evaluation of global developmental delay or intellectual disability in children when a specific syndrome is not suspected

CMA is recommended as a first‑tier agnostic diagnostic test per AAP and ACMG guidance; consider testing additional family members when helpful for interpretation.

inv-59: Testing of biological parent or sibling of a fetus/child with an abnormal or equivocal CMA result.

Parental or sibling testing is covered when done to clarify an abnormal or equivocal fetal/child CMA result:

Parental/sibling follow-up testing: Testing of a biological parent or sibling of a fetus or child with an abnormal or equivocal CMA result to determine inheritance and aid interpretation

Parental testing improves interpretation of CNVs and is supported by guideline recommendations for follow‑up evaluation.

inv-60: Suspected fetal chromosomal abnormality or other fetal abnormalities (maternal care O35 series) and specific congenital malformations listed by ICD-10 codes.

CMA is covered for suspected fetal chromosomal abnormalities or other fetal anomalies when mapped to appropriate diagnostic codes and supported by clinical findings:

Suspected fetal chromosomal abnormality (O35 series): Evaluation when maternal care O35-series or related ICD-10 codes indicate suspected fetal chromosomal abnormality or specific congenital malformations (including cardiac anomalies, trisomies, and other syndromes)

Use of specific O35-series ICD-10 codes is recommended when requesting authorization; documentation of ultrasound or clinical findings may be required.

inv-61: Prenatal diagnosis (CVS or amniocentesis) for aneuploidy, CNVs, suspected chromosomal abnormalities; evaluation of fetal structural anomalies including CHD; fetal growth restriction; products of conception; neurodevelopmental disorders such as ASD, GDD, and ID.

CMA is covered when used as part of prenatal diagnostic testing and evaluation of specified fetal conditions:

Prenatal diagnosis via CVS or amniocentesis: Prenatal diagnostic testing (chorionic villus sampling or amniocentesis) for aneuploidy, copy-number variants, or suspected chromosomal abnormalities; evaluation of fetal structural anomalies including congenital heart defects, fetal growth restriction, and products of conception

Multiple systematic reviews and cohort studies document incremental CMA yield and support CMA use in these prenatal contexts.

inv-62: Fetal structural anomalies detected on ultrasound; CMA is primary test and can replace karyotype.

When fetal structural anomalies are detected on ultrasound, CMA is the recommended primary genomic test in many guideline statements:

Fetal structural anomalies on ultrasound: Offer CMA as the primary test (may replace karyotype) for fetuses with structural anomalies identified on ultrasound

ACOG/SMFM and SOGC/CCMG recommend CMA for prenatal structural anomalies and support offering CMA in these scenarios.

inv-63: Stillbirth or intrauterine fetal death where further cytogenetic analysis is desired.

CMA is covered in the evaluation of stillbirth or intrauterine fetal death when further cytogenetic analysis is desired:

Stillbirth / intrauterine fetal death: CMA should be incorporated into stillbirth workup and used when further cytogenetic analysis is desired following intrauterine fetal demise or stillbirth

ACOG/SMFM and SOGC/CCMG recommend CMA for stillbirth evaluation due to improved detection and test success compared with karyotype.

inv-64: Postnatal evaluation of developmental delay/intellectual disability, autism spectrum disorder, and multiple congenital anomalies; first-tier test.

CMA is covered as a first-tier postnatal test for key developmental and congenital indications when clinical criteria are met:

First-tier postnatal evaluation: Postnatal evaluation of individuals with developmental delay/intellectual disability, autism spectrum disorder, or multiple congenital anomalies — CMA is considered a first‑tier diagnostic testfirst-tier

ACMG and AAP guidance recommend CMA as first‑line testing in these postnatal contexts.

inv-65: Fetuses with congenital heart defects (CHD) where incremental CMA yield over karyotype is reported.

CMA is covered for fetuses with congenital heart defects in which evidence shows additional diagnostic yield over karyotype:

Fetuses with CHD (including CHD+other anomalies): Fetuses with congenital heart defects, especially those with extracardiac malformations or specific CHD subtypes (e.g., septal defects, conotruncal defects), where CMA yields additional diagnostic findings beyond karyotype

Meta-analyses and cohort studies report variable incremental yields by CHD subtype and support CMA use particularly in CHD with extracardiac anomalies.

inv-66: Multiple Congenital Anomalies, Global Developmental Delay/Intellectual Disability, Autism Spectrum Disorder — terminology updated

Terminology and guideline-aligned first‑line indications updated in the policy rationale:

Updated terminology and first-line indications: Multiple Congenital Anomalies, Global Developmental Delay/Intellectual Disability, and Autism Spectrum Disorder are specified as first‑line/first‑tier indications for CMA per ACMG and CCMG guidance; policy language updated accordingly.

Policy replaced prior reference terms to reflect updated terminology.

Procedure and Diagnosis Codes

Covered/Applicable procedure codesmixed

0156U	Copy number (e.g., intellectual disability, dysmorphology), sequence analysis.
0209U	Cytogenomic constitutional (genome-wide) analysis, interrogation of genomic regions for copy number, structural changes and areas of homozygosity for chromosomal abnormalities.
81228	Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number variants, comparative genomic hybridization [CGH] microarray analysis.
81229	Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants, comparative genomic hybridization (CGH) microarray analysis.
81349	Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and loss-of-heterozygosity variants, low-pass sequencing analysis
81479	Unlisted molecular pathology procedure
S3870	Comparative genomic hybridization (CGH) microarray testing for developmental delay, autism spectrum disorder and/or intellectual disability

Applicable diagnosis codes (selected examples)ICD-10

F70	Mild intellectual disabilities.
F71	Moderate intellectual disabilities.
F72	Severe intellectual disabilities.
F73	Profound intellectual disabilities.
F78.A1	SYNGAP1-related intellectual disability.
F78.A9	Other genetic related intellectual disability.
F79	Unspecified intellectual disabilities.
F84.0	Autistic disorder.
N96	Recurrent pregnancy loss.
O02.1	Missed abortion.

1–10 of 15

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Applicable ICD-10 Codes (sample from O35 series)ICD-10

O35.09X2

Maternal care for (suspected) other central nervous system malformation or damage in fetus, fetus 2

Applicable ICD-10 Codes (expanded O35 series and other maternal-fetal codes)ICD-10

O35.09X3	Maternal care for (suspected) other central nervous system malformation or damage in fetus, fetus 3
O35.10X0	Maternal care for (suspected) chromosomal abnormality in fetus, unspecified, not applicable or unspecified
O35.10X1	Maternal care for (suspected) chromosomal abnormality in fetus, unspecified, fetus 1
O35.10X2	Maternal care for (suspected) chromosomal abnormality in fetus, unspecified, fetus 2
O35.11X0	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, not applicable or unspecified
O35.11X1	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, fetus 1
O35.11X2	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, fetus 2
O35.11X3	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, fetus 3
O35.11X4	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, fetus 4
O35.11X5	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 13, fetus 5

1–10 of 18

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Perinatal/Newborn ICD-10 CodesICD-10

P02.9	Newborn affected by abnormality of membranes, unspecified
P95	Stillbirth

Congenital malformation and chromosomal ICD-10 CodesICD-10

Q20.1	Double outlet right ventricle
Q21.0	Ventricular septal defect
Q21.3	Tetralogy of Fallot
Q23.4	Hypoplastic left heart syndrome
Q87.86	Kleefstra syndrome
Q90.0	Trisomy 21, nonmosaicism (meiotic nondisjunction)
Q90.1	Trisomy 21, mosaicism (mitotic nondisjunction)
Q91.0	Trisomy 18, nonmosaicism (meiotic nondisjunction)
Q91.4	Trisomy 13, nonmosaicism (meiotic nondisjunction)

Applicable ICD-10 Codes (comprehensive group)ICD-10

Q21.20	Other specified atrial septal defect.
Q21.21	Atrioventricular septal defect, unspecified as to partial or complete.
Q21.22	Partial atrioventricular septal defect.
Q21.23	Transitional atrioventricular septal defect.
Q22.0	Pulmonary valve atresia.
Q22.1	Congenital pulmonary valve stenosis.
Q22.2	Congenital pulmonary valve insufficiency.
Q22.3	Other congenital malformations of pulmonary valve.
Q22.4	Congenital tricuspid stenosis.
Q22.5	Ebstein's anomaly.

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Prior Authorization, Documentation, and Ordering Guidance

Prior Authorization

Pennsylvania‑only prior authorization; case‑by‑case review

This policy applies only to Pennsylvania. Requests that do not meet criteria in the Pennsylvania PARP will be evaluated case-by-case and medical records may be required to assess criteria for coverage.

Prior Authorization

Use O35‑series ICD‑10 codes for maternal‑fetal indications

When requesting authorization for suspected fetal chromosomal or congenital abnormalities, use the mapped O35-series maternal‑care ICD‑10 codes (examples: O35.09X2, O35.09X3, O35.10X0) to support the indication.

Prior Authorization

Prior authorization and documentation expectation for CMA

Chromosomal microarray (CMA; aCGH/SNP array) is used to evaluate pregnancy loss and prenatal diagnoses; when billed or requested, include documentation of the clinical indication and pertinent prior test results per policy (e.g., prior karyotype) to support authorization.

Include indication (e.g., products of conception, stillbirth, invasive prenatal testing) in request.
Provide prior diagnostic test results when available (e.g., karyotype) to support necessity.

Prior Authorization

Expect CMA as primary test for prenatal structural anomalies

For invasive prenatal diagnostic testing performed for fetal structural abnormalities detected by ultrasound, CMA is expected as the primary test and can replace conventional karyotype; provide ultrasound findings if requested.

When ordering CMA for fetal structural anomalies, document the ultrasound abnormality.
If requested, supply imaging reports to support the indication.

Note

Check applicable benefit and contractual requirements

Verify federal, state, or contractual benefit requirements before applying this policy; coverage is governed by those requirements and may differ from the standard policy guidance.

Step Therapy

Step therapy not required

No step therapy requirements are stated in this policy excerpt.

Step Therapy

Sequence CMA and karyotype based on clinical context

In prenatal care, CMA may be performed after a normal karyotype or may be used in place of karyotype depending on the clinical context; some guidelines recommend CMA as first‑line for structural anomalies while other studies performed CMA concurrently or after karyotype.

CMA can provide incremental diagnostic yield after normal karyotype (e.g., FGR and CHD studies).
Clinical context and guideline recommendations determine sequencing of karyotype vs CMA.

Note

Choose tests by phenotype, history, and ancillary results

Select the testing modality based on the patient’s phenotype, medical/family history, ancillary testing, and differential diagnosis; targeted testing may be preferred when a specific disorder is suspected, otherwise broader testing (CMA, WES, WGS) may be appropriate.

Use targeted gene testing if a specific genetic disorder is suspected.
Use genome‑wide assays (CMA, WES, WGS) for nonspecific or overlapping phenotypes.

Documentation Required

Document history, exam, and prior test results in the record

The medical record must document relevant history, physical examination, and results of prior diagnostic tests to support medical necessity; records should be legible and available upon request to support authorization and claims.

Document clinical findings, imaging, and prior genetic test results.
Maintain legible records and make them available if requested during review.

Documentation Required

Record pretest and posttest genetic counseling

Documented evidence of pretest and posttest genetic counseling by a provider with genetics expertise is expected when ordering prenatal CMA; counseling should cover benefits, limitations, and potential results.

Record that pretest counseling occurred and topics discussed (e.g., VUS, nonpaternity, adult‑onset findings).
Record posttest counseling and interpretation when results are returned.

Documentation Required

Maintain complete medical-record support for medical necessity

The patient's medical record must contain documentation that fully supports medical necessity, including relevant medical history, physical examination, and results of pertinent diagnostic tests; documentation must be legible and made available upon request.

Denial Risk

Denial risk for unsupported indications

Requests for CMA outside the enumerated proven/medically necessary indications (prenatal indications and selected postnatal neurodevelopmental/congenital indications) are considered unproven and not medically necessary and may be denied.

Denial Risk

Claims may be denied if required ICD‑10 code is missing

Claims submitted without an applicable diagnosis code from the listed O35, P, or Q series that support suspected fetal chromosomal or congenital abnormalities may be denied.

Include an appropriate O35-series maternal‑care or relevant Q/P series code on claims to substantiate fetal/congenital indications.

Documentation Required

Obtain informed consent and document pretest counseling

Obtain and document informed consent and pretest counseling before ordering prenatal CMA; counseling should address the potential for variants of uncertain significance, nonpaternity, and secondary/adult‑onset findings.

Document that informed consent was obtained and topics discussed during pretest counseling.
Ensure consent addresses possible uncertain or incidental findings.

Denial Risk

Denial risk if documentation does not support medical necessity

Lack of medical-record documentation that fully supports medical necessity may lead to denial; benefit coverage is governed by federal, state, or contractual rules and documentation alone does not guarantee coverage.

Note

CMA may be incremental after normal karyotype in obstetric contexts

In some obstetric cohorts, CMA has been described as providing incremental diagnostic yield after a normal karyotype; studies variably performed CMA concurrently with karyotype or subsequent to karyotype, so sequencing may differ by clinical practice.

Five studies performed CMA after a normal karyotype; many performed CMA concurrently with karyotype.
Consider local practice and guideline recommendations when sequencing tests.

Eligibility and Test Prerequisites

The policy does not define quantitative family history thresholds for coverage. The sole family‑member coverage provision in this section permits CMA for a biological parent or sibling of a fetus or child when used to investigate an abnormal or equivocal CMA result in that fetus/child; no additional family‑history minimums are specified.

Top-level eligibility nodes and decision-tree specifics are not included in the excerpted portion of the policy. Refer to the full policy decision pathway for detailed branching criteria and required documentation elements.

As noted elsewhere in the policy, there is no specific family history threshold required beyond the provision allowing testing of a biological parent or sibling to clarify an abnormal or equivocal CMA result in the proband; clinical judgment and documentation of the relationship and reason for testing are expected.

This block is a placeholder for top-level eligibility nodes not present in the provided excerpt. Consult the full coverage criteria for any additional eligibility branching or prerequisites.

Within the portion of the document provided, the policy does not list explicit prior testing prerequisites (for example, a mandatory prior karyotype) as a universal requirement. Clinical contexts vary: in some settings CMA may be used after a normal karyotype or may be offered as the primary test (notably for fetal structural anomalies), so prior testing expectations depend on the indication and supporting guideline statements rather than a single uniform prerequisite.

Placeholder: no explicit eligibility nodes are included in the excerpt for this block. See the full policy for any specific indication‑level prerequisites.

Exclusions and Not Covered Uses

Chromosome microarray testing for indications other than the covered prenatal and specified postnatal situations is considered unproven and not medically necessary. Requests for unsupported indications may be denied if they fall outside the enumerated coverage criteria.

The excerpt does not explicitly label specific test types as not covered. One small series noted that none of the 29 maternal serum screening–prompted cases had pathogenic findings on CMA, illustrating a limited yield for that narrow indication in that dataset rather than a formal exclusion in this policy.

Current evidence does not support routine replacement of CMA by whole‑genome sequencing (WGS) as standard practice. Although WGS may offer increased diagnostic yield in some cohorts, the policy states that routine substitution of WGS for CMA is not supported by existing evidence and therefore is not recommended as a standard coverage approach.

The clinical guideline material cited in this policy does not address prenatal single‑gene mutation testing, and the policy reiterates that FDA approval alone is not a basis for coverage. Genetic tests are regulated under CLIA, and FDA‑cleared/approved status is informational but not determinative of coverage.

Definitions

Autism Spectrum Disorder — definition entry

DefinitionA condition marked by enduring problems communicating and interacting with others, along with restricted and repetitive behavior, interests, or activities as listed in the ICD or DSM (UnitedHealthcare source).

Context of useIncluded as a covered postnatal indication for CMA in evaluation of neurodevelopmental disorders (see coverage rationale).

ReferenceUnitedHealthcare definition source (2026).

Global Developmental Delay — definition entry

DefinitionFailure to meet expected developmental milestones in several areas of intellectual functioning in an individual younger than 5 years of age (American Psychiatric Association, 2013).

Policy noteTerminology updated in Coverage Rationale: 'Developmental Delay' replaced by 'Global Developmental Delay'.

ReferenceUnitedHealthcare definition and policy updates (chunks 6, 85, 87).

Intrauterine Fetal Demise or Stillbirth — definition entry

DefinitionFetal death at or after 20 weeks' gestation (American College of Obstetricians and Gynecologists; Society for Maternal-Fetal Medicine).

Policy contextListed as a covered prenatal indication for CMA (evaluation of intrauterine fetal demise or stillbirth).

ReferenceUnitedHealthcare definitions and applicable codes (chunks 6, 35).

Well-Delineated Genetic Syndrome — definition entry

DefinitionA syndrome defined by a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease; distinguishing characteristics (facial features, other physical traits, laboratory tests, or family history) can identify the syndrome (Talking Glossary of Genomic and Genetic Terms, 2025).

Clinical relevanceUsed in policy to distinguish multiple congenital anomalies that are not specific to a well-delineated genetic syndrome as a CMA indication.

ReferenceUnitedHealthcare definition (chunk 6).

Q90–Q91 series — trisomy codes definition

DefinitionICD-10 codes Q90–Q91 denote trisomies (e.g., Trisomy 21, Trisomy 18, Trisomy 13) and related diagnostic subcodes (nonmosaicism, mosaicism, translocation, unspecified).

Use in policyReferenced as applicable congenital chromosomal diagnosis codes to support prenatal and postnatal CMA requests.

ReferenceApplicable codes listing (chunk 37).

Q20–Q24 series — congenital cardiac malformations definition

DefinitionICD-10 codes Q20–Q24 cover congenital cardiac malformations including atrial and ventricular septal defects, conotruncal defects, hypoplastic left/right heart syndromes, valve malformations, and other specified congenital heart defects.

Policy useListed as example ICD-10 indications supporting CMA for congenital heart defects (CHD) evaluations.

ReferenceApplicable codes listing (chunks 35–36).

CMA (chromosomal microarray) — test definition

DefinitionChromosomal microarray (CMA) is a high-resolution molecular test (including array comparative genomic hybridization [aCGH] and SNP arrays) used to detect chromosomal abnormalities such as copy number variants (CNVs), uniparental disomy, and other genomic alterations with greater sensitivity than conventional karyotype.

Modalities includedaCGH and SNP microarray (and low-pass sequencing referenced elsewhere) are encompassed under CMA in the policy.

ReferenceDescription of services and clinical evidence (chunks 41, 72).

Incremental diagnostic yield — definition

DefinitionIncremental diagnostic yield: the proportion of submicroscopic CNVs (typically <10 megabases) detected by CMA after a normal karyotype; reported in meta-analyses as additional yield attributable to CMA (e.g., in fetal growth restriction strata).

Example valuesReported incremental yields in FGR: isolated FGR 3% (95% CI 2%–5%); FGR + US 4% (95% CI 3%–5%); FGR + SM 10% (95% CI 7%–13%).

ReferenceSapantzoglou et al. systematic review/meta-analysis (chunk 42).

CMA — additional definition entry

DefinitionCMA: Chromosome microarray testing used to detect copy-number variants (CNVs) and regions of homozygosity; may be performed by array CGH or SNP microarray platforms and can replace or complement karyotype in certain prenatal and postnatal indications.

Clinical roleRecommended as first-tier testing for multiple congenital anomalies, global developmental delay/ID, and ASD; used for prenatal diagnosis and pregnancy loss evaluation per guidelines.

ReferenceDescription of services and clinical guidelines (chunks 41, 59).

VUS — variant of uncertain significance definition

DefinitionVariant of uncertain significance (VUS): a genomic variant for which the clinical significance is currently uncertain; VUS rates differ between platforms and tests (e.g., CMA vs WES) and are reported in prenatal cohorts.

Policy implicationPretest counseling should include discussion of the possibility and implications of VUS findings, and follow-up parental testing may be recommended.

ReferenceSystematic review/meta-analysis reporting VUS rates (chunk 57).

Autism Spectrum Disorder — added definition referenced in policy

DefinitionAutism Spectrum Disorder: definition added to the policy glossary — marked by enduring problems in social communication and interaction plus restricted, repetitive behaviors as listed in ICD/DSM (policy addition).

Policy noteNewly added definition is reflected in the updated Definitions section of the policy (chunk 87).

ReferencePolicy Definitions and change log (chunks 6, 87).

Global Developmental Delay — updated definition replacing prior terminology

DefinitionGlobal Developmental Delay: updated definition in the policy replacing prior 'Developmental Delay' terminology; defined as failure to meet expected developmental milestones in several areas of intellectual functioning in an individual younger than 5 years of age.

Policy changeCoverage Rationale language updated to use 'Global Developmental Delay' and Definitions section updated accordingly.

ReferenceDefinitions and Coverage Rationale updates (chunks 6, 85, 87).

Additional Provider Guidance

Documentation Required

Strongly recommend pretest genetic counseling

Pre‑test genetic counseling is strongly recommended to inform patients about the advantages, limitations, and possible outcomes of CMA prior to testing.

Counseling should explain test sensitivity, potential for uncertain/secondary findings, and implications for pregnancy management.

Note

Refer to fetal medicine specialists for increased nuchal translucency

Refer patients to fetal‑medicine specialists when early increased nuchal translucency or other complex prenatal findings are detected, as advised in guideline discussions.

Referral advised for early detection of increased nuchal translucency to inform further evaluation.

Documentation Required

Arrange genetic evaluation and counseling after chromosome imbalance

Following identification of chromosome imbalance, arrange appropriate clinical genetic evaluation and counseling and consider parental testing or cytogenetic follow‑up as recommended.

Plan cytogenetic/FISH follow‑up and parental evaluation when indicated by CMA results.
Provide clinical genetic counseling to interpret findings and guide management.

Note

Consider fetal‑medicine referral for complex prenatal findings

Referral to fetal medicine specialists is advised for certain prenatal findings, though the policy does not mandate which clinicians must order testing.

Note

Order tests guided by phenotype, history, and ancillary results

The ordering clinician should select the appropriate test based on phenotype, history, ancillary testing, and differential diagnosis; targeted testing is preferable when a specific disorder is suspected.

For nonspecific presentations, consider broader testing (CMA, WES, WGS).
If a specific genetic syndrome is suspected, consider targeted gene testing first.

Chromosome Microarray Testing (Non-Oncology Conditions) (for Pennsylvania Only)

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Coverage and Medical Necessity Criteria

Specific Covered Indications

Procedure and Diagnosis Codes

Prior Authorization, Documentation, and Ordering Guidance

Eligibility and Test Prerequisites

Exclusions and Not Covered Uses

Background and Test Description

Definitions

Additional Provider Guidance