DraftUnitedHealthcarePolicy CS017NM.D

Chromosome Microarray Testing (Non-Oncology Conditions) (For New Mexico Only)

Defines medical necessity and coverage guidance for chromosome microarray testing (aCGH and SNP array) for non-oncology indications in New Mexico members of UnitedHealthcare.

Policy Summary

PayerUnitedHealthcare

PolicyChromosome Microarray Testing (Non-Oncology Conditions) (For New Mexico Only)

Policy CodePolicy CS017NM.D

Change TypeICD-10 code updates

Effective DateNov 1, 2025

Next Review Date

Key ActionVerify member benefits and any prior authorization requirements per the applicable federal, state, or contractual plan before ordering.

SourceLink

POLICY UPDATE CHANGES

Updated list of applicable ICD-10 diagnosis codes to reflect annual edits, adding Q89.89, Q99.89, QA0.0159, and QA0.8 and removing Q89.8 and Q99.8.

aCGH / SNPtest methods described as covered

Prenatal & Pediatricprimary evaluated populations

Multipleprocedure codes listed

New Mexicopolicy applies only to

182

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FGR cohort participants

Coverage and Medical Necessity Criteria

Medically necessary indications

Covered when ANY of the following indications apply:

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

Postnatal indications: Evaluation of individuals with one or more of: autism spectrum disorder (ASD); isolated severe congenital heart disease; multiple anomalies not specific to a well‑delineated genetic syndrome and not identifiable by clinical evaluation alone; developmental delay/intellectual disability where a specific syndrome is not suspected.

Familial follow‑up: Evaluation of a biological parent or sibling of a fetus or child with an abnormal or equivocal chromosome microarray testing result.

Not medically necessary / Unproven

Not covered indications: Chromosome microarray testing using aCGH or SNP array is unproven and not medically necessary for all other populations and conditions due to insufficient evidence of efficacy.

Preimplantation genetic testing is addressed in a separate policy.

General medical necessity and limitations

Clinical uses and considerations for CMA

Clinical indications and limitations: CMA (aCGH or SNP array) detects genomic copy number variants associated with congenital anomalies, dysmorphic features, developmental delay, intellectual disability, and other neurodevelopmental disorders; it may be targeted or genome‑wide. Diagnostic prenatal CMA requires invasive sampling. CMA can detect CNVs not identified by standard karyotype or FISH but cannot detect balanced chromosomal rearrangements and may yield variants of uncertain significance requiring additional evaluation.

Supported by Description of Services

Use in fetal growth restriction (FGR)

Evidence in obstetrics

FGR study findings: In a prospective cohort of 182 singleton pregnancies with fetal growth restriction, CMA detected pathogenic CNVs at a higher rate (19%) in fetuses with structural malformations compared with those with isolated FGR or FGR with ultrasound soft markers.

Li et al. 2025 cohort

Covered Indications — Prenatal and pregnancy-related

CMA is recommended or supported in the following prenatal and pregnancy-related scenarios as described in the evidence and professional society guidance:

Prenatal structural anomalies: CMA is recommended as a first‑tier test for fetuses with one or more major structural abnormalities identified on ultrasound when invasive prenatal diagnosis is performed; it typically can replace fetal karyotype.

ACOG/SMFM; ACMG

Congenital heart defects (CHD): CMA demonstrates higher diagnostic yield than karyotype for fetal CHD (example study yield 15.3%) and is particularly recommended for non‑isolated CHD or when karyotype is normal.

Lu et al. 2024; Wang et al. 2023

IUGR/FGR with anomalies: Offer CMA when fetal growth restriction is accompanied by structural malformations or when isolated unexplained FGR is diagnosed before 32 weeks, given higher detection of pathogenic CNVs in these subgroups.

SMFM guidance; Li et al. 2025

Society-recommended covered indications

Covered when ANY of the following society-recommended indications are met

Prenatal structural anomaly: Prenatal CMA is recommended and should replace conventional karyotype for a fetus with one or more major structural abnormalities identified on ultrasound when invasive prenatal diagnosis is performed.

ACOG/SMFM; ACMG

Stillbirth / intrauterine fetal demise evaluation: CMA of fetal tissue or products of conception is recommended in evaluation of intrauterine fetal death or stillbirth when further cytogenetic analysis is desired because of improved detection and higher likelihood of obtaining results compared with karyotype.

ACOG/SMFM; ACMG

Prenatal invasive testing when patient elects CMA: CMA should be made available to any patient undergoing invasive diagnostic testing; in structurally normal fetuses either CMA or karyotype may be performed.

ACOG Practice Bulletin

Constraints/limitations

Considered lower value or investigational when ANY of the following apply

First‑trimester pregnancy loss: Use of CMA is not recommended as a first‑line test to evaluate first‑trimester pregnancy losses due to limited data.

SMFM 2016/2020

Diagnosis clinically apparent: CMA is not considered medically necessary when a diagnosis or recognizable syndrome is apparent on clinical evaluation and targeted testing is appropriate.

AAN model policy

Lack of informed consent or counseling: Absence of appropriate informed consent and documented pretest counseling limits the value of CMA and may render testing investigational or subject to denial per guidance.

AAN; ACOG/SMFM counseling requirements

Medically necessary indications supported by professional guidance

Covered when criteria recommended by professional societies are met (examples below reflect society guidance referenced in this policy):

Postnatal first‑tier indications: CMA is considered first‑line testing for individuals with multiple congenital anomalies not specific to a well‑delineated genetic syndrome, apparently non‑syndromic developmental delay/intellectual disability, and autism spectrum disorder.

ACMG; ISCA

Prenatal structural anomalies and stillbirth: When ultrasound identifies major fetal structural abnormalities and invasive prenatal diagnostic testing will be performed, CMA is the recommended test; CMA is also recommended for workup of intrauterine fetal demise or stillbirth when genetic diagnosis is pursued.

ACMG technical standard; ACOG/SMFM

Syndromic‑targeted testing first: If a recognized genetic syndrome is apparent (e.g., Fragile X, PTEN hamartoma, Rett, tuberous sclerosis, Prader‑Willi, Angelman, Down), targeted testing for that syndrome is recommended first; if negative, proceed to CMA and Fragile X testing.

AACAP practice parameter

Preimplantation genetic testing (PGT) is addressed in a separate UnitedHealthcare policy and is not included within the indications for chromosome microarray testing (CMA) described in this document. See the related policy titled "Preimplantation Genetic Testing and Related Services (for New Mexico Only)" for coverage criteria specific to PGT.

Chromosome microarray testing (aCGH or SNP array) has technical limitations: it detects copy number variants (deletions and duplications) but cannot reliably detect balanced chromosomal rearrangements (for example, reciprocal translocations or inversions) because these do not involve net gain or loss of chromosomal material. CMA may also identify variants of uncertain significance that require further evaluation.

CMA does not reliably detect balanced rearrangements or uniparental disomy (UPD) and can miss chromosomal abnormalities that involve no net change in copy number. These limitations mean CMA is not appropriate when the clinical question specifically requires detection of balanced structural changes or other abnormalities without a copy number change.

The Society for Maternal-Fetal Medicine (SMFM) recommends offering fetal diagnostic testing including CMA when fetal growth restriction (FGR) is accompanied by a fetal malformation or polyhydramnios, and recommends CMA for unexplained isolated FGR diagnosed before 32 weeks gestation. SMFM also states that CMA should replace karyotype when genetic analysis is performed for fetal structural anomalies or stillbirth, but does not recommend routine CMA as a first-line test for first‑trimester pregnancy loss due to limited data.

The Canadian College of Medical Genetics (CCMG) recommends CMA as a first‑tier test for individuals with global developmental delay (GDD), intellectual disability (ID), or autism spectrum disorder (ASD). The CCMG does not recommend routine genetic testing, including CMA, for neurodevelopmental presentations when GDD, ID, or ASD are not present, unless the phenotype suggests a syndromic etiology or inherited metabolic disease.

Chromosome microarray testing for indications other than those explicitly listed in this policy is considered unproven and not medically necessary. Claims for CMA when used outside the covered prenatal and postnatal indications may be denied as lacking sufficient evidence of clinical benefit.

No explicit not‑medically‑necessary (NMN) statements beyond the general unproven/unlisted‑indications language are contained in the provided excerpt of this policy.

In one retrospective cohort of prenatally diagnosed non‑immune hydrops fetalis, CMA showed low diagnostic utility, with most cases returning normal or likely benign results and only a single large pathogenic duplication reported, indicating limited benefit of CMA in this specific indication.

When a clinical diagnosis is apparent from evaluation (for example, a well‑defined genetic syndrome), targeted testing for that syndrome is recommended first; CMA is indicated if targeted testing is unrevealing. Additionally, comprehensive pretest genetic counseling and documented informed consent are required prior to ordering CMA because results may include variants of uncertain significance, non‑paternity, consanguinity, or adult‑onset findings.

FDA clearance or approval of a genetic test is informational only and does not by itself determine coverage. Coverage decisions are governed by the applicable federal, state, or contractual benefit plan terms; this policy is intended to guide interpretation but benefit terms prevail when determining coverage.

Specific Covered Indications

Prenatal evaluation for fetal demise/stillbirth, products of conception after pregnancy loss, and invasive prenatal testing (amniocentesis/CVS).

Prenatal evaluation including POC and invasive testing: Chromosome microarray testing (aCGH or SNP array) is considered medically necessary for evaluation of fetal demise/stillbirth, products of conception after pregnancy loss, and for individuals undergoing invasive prenatal diagnostic testing (amniocentesis or CVS).

Document results and sample source; follow society guidance for counseling and consent.

Evaluation of individuals with ASD, isolated severe congenital heart disease, multiple unexplained anomalies, or developmental delay/intellectual disability

Indication — Neurodevelopmental and CHD evaluation: CMA is indicated for evaluation of individuals with autism spectrum disorder (ASD), isolated severe congenital heart disease, multiple unexplained anomalies, or developmental delay/intellectual disability when a specific syndrome is not suspected. CMA is first‑tier per ACMG/ISCA guidance in these postnatal contexts.

ACMG technical standard; ISCA consensus

Procedure and Diagnosis Codes

Covered CPT/HCPCS codes referencedmixed

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

Relevant ICD-10 diagnosis codes (sample list from policy)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.

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Applicable ICD-10 Diagnosis Codes (selection shown)ICD-10

O35.12X1	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, fetus 1
O35.12X2	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, fetus 2
O35.12X3	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, fetus 3
O35.12X4	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, fetus 4
O35.12X5	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, fetus 5
O35.12X9	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 18, other fetus
O35.13X1	Maternal care for (suspected) chromosomal abnormality in fetus, Trisomy 21, fetus 1
O35.14X1	Maternal care for (suspected) chromosomal abnormality in fetus, Turner Syndrome, fetus 1
O35.15X2	Maternal care for (suspected) chromosomal abnormality in fetus, sex chromosome abnormality, fetus 2
O35.19X1	Maternal care for (suspected) chromosomal abnormality in fetus, other chromosomal abnormality, fetus 1

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Applicable ICD-10 diagnosis code edits (annual)ICD-10

Q89.89	ICD-10 diagnosis code added per annual edits
Q99.89	ICD-10 diagnosis code added per annual edits
QA0.0159	ICD-10 diagnosis code added per annual edits
QA0.8	ICD-10 diagnosis code added per annual edits
Q89.8	ICD-10 diagnosis code removed per annual edits
Q99.8	ICD-10 diagnosis code removed per annual edits

inv-23: Study cohort size — Li et al. / FGR cohort participants (key metric)

Li et al. (2025) FGR cohort size182 singleton pregnancies enrolled (prospective cohort)

Cohort categoriesIsolated FGR; FGR with ultrasound soft markers; FGR with structural malformations

Specimen collection methodAmniocentesis performed on all participants with both karyotype and CMA completed

What Providers Must Do

Billing Rule

Procedure codes to reference

Use the procedure and HCPCS/CPT codes listed in the policy when requesting coverage or submitting claims. Inclusion of a code in this policy is for reference only and does not guarantee coverage or payment; verify benefits and applicable plan rules.

Reference listed CPT/HCPCS procedure codes when ordering or requesting authorization
Listing of a code does not imply coverage — check member benefit terms

Billing Rule

Coding referenced for authorization

Use the ICD-10 diagnosis codes listed in this policy to support medical necessity on prior authorization requests and claims when applicable (codes include maternal care for suspected chromosomal abnormalities, fetal anomalies, stillbirth, neonatal abnormal findings, and specific chromosomal diagnoses).

Use maternal/fetal/neonatal ICD-10 codes that reflect the indication (e.g., suspected chromosomal abnormality, fetal structural anomaly, intrauterine fetal demise) to justify testing

Eligibility and Prior Testing

No explicit family history requirements for CMA eligibility are stated in the provided policy excerpt.

No top‑level eligibility nodes are specified in this excerpt.

The policy does not establish explicit family history prerequisites for testing. It notes indications for CMA based on clinical presentation rather than specific family history criteria.

The policy does not require prior karyotype or other testing as a gatekeeper for CMA in the listed indications. CMA is described as providing more information than standard karyotype and may replace karyotype for many prenatal structural anomaly evaluations.

No top‑level eligibility nodes are specified in this excerpt.

Not Covered / Limitations

Chromosome microarray testing for indications not explicitly listed in this policy is considered unproven and not medically necessary and therefore not covered.

CMA is unable to detect balanced chromosomal rearrangements and may generate variants of uncertain significance that require additional follow‑up testing; these technical limitations are noted as reasons why CMA may not be appropriate for some clinical questions.

Testing intended to detect balanced rearrangements or other abnormalities that do not involve a net copy number change (for example, certain balanced translocations or inversions) is not appropriate for CMA because such abnormalities will generally not be identified by copy number‑based methods.

The SMFM does not recommend routine use of CMA as the first‑line test to evaluate first‑trimester pregnancy loss due to limited evidence supporting that approach.

The CCMG does not recommend routine genetic testing, including CMA, for individuals with neurodevelopmental concerns when GDD, ID, or ASD are not present, unless the clinical phenotype suggests a syndromic etiology or inherited metabolic disease.

Definitions and Terminology

inv-45: Developmental Delay definition — children <5 years with milestone delays

Age range relevanceTerm used for children younger than 5 years of age

Clinical meaningDescribes delays in attainment of developmental milestones at the expected age

Source referenceMoeschler and Shevell, 2014 (reaffirmed 2019)

inv-46: Intellectual Disability definition — diagnosis before age 18 with below-average intellectual function

Diagnostic age cutoffDiagnosis before age 18

Core featuresBelow-average intellectual function and lack of skills necessary for daily living

Background and Evidence Summary

Chromosomal microarray analysis (CMA), including array comparative genomic hybridization (aCGH) and SNP arrays, is a genome‑wide method that detects copy number variants and regions of homozygosity; it is used in prenatal and postnatal evaluations to identify deletions and duplications associated with congenital anomalies and neurodevelopmental disorders.

Evidence summaries report diagnostic yields for CMA in specific prenatal contexts: for fetal congenital heart defects, a single‑center study found a CMA diagnostic yield of 15.3% (Lu et al., 2024), and a meta‑analysis reported pooled chromosome abnormality proportions of up to 23% with higher rates in non‑isolated CHD (Wang et al., 2023). Systematic reviews show modest but meaningful incremental yields for mixed fetal anomalies depending on the anomaly type.

first-tierRecommended as first‑tier by multiple societies

ACOG-LvAACOG/SMFM: primary test for fetal structural abnormalities (Level A)

ACMG-2021ACMG: first‑tier for congenital anomalies, ASD, ID (technical standard 2021)

Policy Revision History

2025-11-01code_list_updateLatest

Updated list of applicable ICD-10 diagnosis codes: added Q89.89, Q99.89, QA0.0159, QA0.8 and removed Q89.8, Q99.8; archived prior policy version CS017NM.C.

Material change: the applicable ICD‑10 diagnosis code list was updated effective 11/01/2025, adding Q89.89, Q99.89, QA0.0159, and QA0.8 and removing Q89.8 and Q99.8.

Policy Summary

PayerUnitedHealthcare

PolicyChromosome Microarray Testing (Non-Oncology Conditions) (For New Mexico Only)

Policy CodePolicy CS017NM.D

Change TypeICD-10 code updates

Effective DateNov 1, 2025

Next Review Date

Key ActionVerify member benefits and any prior authorization requirements per the applicable federal, state, or contractual plan before ordering.

SourceLink

On This Page

Products of conception / stillbirth: CMA of fetal tissue or products of conception is useful in evaluation of pregnancy loss and stillbirth because it yields higher successful and informative results and detects chromosomal abnormalities and some pCNVs at higher rates than karyotype.

Peng et al. 2023; ACOG/SMFM

Increased nuchal translucency and selected ultrasound findings: Incremental diagnostic yield from CMA increases with greater nuchal translucency and with multiple or major structural anomalies; consider CMA for increased NT and significant ultrasound findings alongside other testing strategies.

Mastromoro et al. 2022c

Developmental delay / intellectual disability / ASD: CMA is a first‑tier diagnostic test for individuals with unexplained developmental delay/intellectual disability or autism spectrum disorder and is recommended as part of the genetic evaluation.

Multiple congenital anomalies: CMA is recommended for individuals with multiple congenital anomalies or major malformations to increase diagnostic yield over karyotype.

ACMG

Fetal growth restriction with anomalies or early onset: Offer CMA when FGR is detected with fetal malformation, polyhydramnios, or when isolated unexplained FGR is diagnosed <32 weeks; consider particularly if structural anomalies are present.

SMFM; SOGC

Follow‑up for VUS or CNV: If a CNV of unknown clinical significance is identified, parental testing is recommended to determine de novo versus inherited status; additional cytogenetic/FISH studies and clinical genetic evaluation/counseling are advised for confirmed chromosome imbalance.

ACMG practice guidelines

Evaluation of biological parent or sibling of a fetus/child with abnormal or equivocal CMA result

Family testing for interpretation: Evaluation of a biological parent or sibling of a fetus or child with an abnormal or equivocal CMA result is indicated to help interpret inheritance (i.e., determine de novo versus inherited CNV) and inform counseling and clinical management.

Parental/sibling testing recommended per ACMG; use targeted testing of identified CNV when possible.

Evaluation of congenital anomalies, dysmorphic features, developmental delay, ID, other NDDs; diagnostic prenatal testing when fetal cells obtained invasively

Congenital anomalies / developmental disorders evaluation: CMA is indicated for evaluation of congenital anomalies, dysmorphic features, developmental delay, intellectual disability, and other neurodevelopmental disorders; diagnostic prenatal testing by CMA requires fetal cells obtained via invasive procedures (amniocentesis or CVS).

Genetic counseling and informed consent required prior to testing.

Evaluation of fetal growth restriction, particularly when structural malformations are present (higher detection rate)

FGR with structural malformations: In fetal growth restriction, particularly when structural malformations are present, CMA has a higher detection rate of pathogenic CNVs (reported 19% in the Li et al. 2025 cohort) and is indicated when FGR coexists with anomalies or when isolated unexplained FGR occurs before 32 weeks per society guidance.

Li et al. 2025; SMFM recommendations

Fetus with one or more major structural anomalies; CHD (non-isolated); IUGR/FGR with structural malformations; POC/stillbirth when cytogenetic analysis desired; selected increased NT and significant ultrasound findings

Fetus with major structural anomalies undergoing invasive testing: CMA is indicated when a fetus has one or more major structural anomalies identified on ultrasound and invasive diagnostic testing is planned; CMA is preferred over karyotype as first‑line in this context.

ACOG/SMFM; ACMG

Congenital heart disease (non‑isolated): CMA is indicated for congenital heart defects, particularly non‑isolated CHD or CHD with extracardiac anomalies, given increased diagnostic yield compared with karyotype.

Lu et al. 2024; Wang et al. 2023

IUGR/FGR with structural malformations: Offer CMA for IUGR/FGR when structural malformations are present or for early‑onset isolated FGR diagnosed <32 weeks.

SMFM; Li et al. 2025

Products of conception / stillbirth when cytogenetic analysis desired: CMA of POC or fetal tissue is indicated in evaluation of stillbirth or intrauterine fetal demise when genetic diagnosis is sought because of higher yield and success over karyotype.

ACOG/SMFM; Peng et al. 2023

Selected increased nuchal translucency and significant ultrasound findings: Consider CMA for fetuses with increased nuchal translucency or other significant ultrasound abnormalities in accordance with guideline thresholds and multidisciplinary evaluation.

Mastromoro et al. 2022c

Prenatal diagnosis of fetal structural anomalies; evaluation of stillbirth or intrauterine fetal death; first-tier testing for DD/ID and ASD; individuals with multiple congenital anomalies

Prenatal structural anomalies diagnosis: For prenatal diagnosis of fetal structural anomalies when invasive testing is performed, CMA is recommended as the diagnostic test and can replace conventional karyotype.

ACOG/SMFM; ACMG

Evaluation of stillbirth or intrauterine fetal death: CMA is recommended for evaluation of stillbirth or intrauterine fetal demise when genetic diagnosis is pursued because of improved detection and higher likelihood of obtaining results compared with karyotype.

ACOG/SMFM; ACMG

First‑tier testing for DD/ID and ASD: CMA is recommended as a first‑tier diagnostic test for individuals with developmental delay/intellectual disability or autism spectrum disorder.

ACMG; AAP; AACAP

Individuals with multiple congenital anomalies: CMA is recommended for individuals with multiple congenital anomalies not specific to a well‑delineated syndrome to increase diagnostic yield over karyotype.

ACMG

Developmental delay/ID/GDD, ASD, multiple congenital anomalies not specific to a well-defined syndrome

DD/ID/GDD and ASD first‑tier: CMA is a first‑line test for developmental delay/intellectual disability (ID/GDD), autism spectrum disorder (ASD), and for individuals with multiple congenital anomalies not attributable to a well‑delineated genetic syndrome.

ACMG; ISCA; AACAP

Prenatal major structural fetal abnormalities when invasive testing planned, and evaluation of fetal demise or stillbirth when pursued for genetic diagnosis

Prenatal major structural abnormalities and stillbirth: When major fetal structural abnormalities are identified and invasive diagnostic testing is planned, CMA is recommended; CMA is also recommended when evaluation of fetal demise or stillbirth is pursued for genetic diagnosis.

ACMG; ACOG/SMFM

Provide specific ICD-10 code(s) that match clinical documentation on the medical record and authorization request

Prior Authorization

Indication-aligned authorization

Prior authorization, when required by the member's plan, should confirm the indication aligns with professional society guidance (e.g., prenatal structural anomaly, stillbirth/intrauterine fetal demise, invasive prenatal diagnostic testing, developmental delay/ID/ASD, multiple anomalies not attributable to a recognizable syndrome).

Confirm indication aligns with society guidance before seeking authorization (prenatal structural anomaly, stillbirth/POC testing, invasive prenatal diagnostic sampling, DD/ID/ASD, multiple anomalies)
If the indication is not supported by guidelines, expect higher denial risk

Denial Risk

Denial risk for unsupported indications

Testing for indications not explicitly supported by the clinical criteria and guideline recommendations in this policy is considered unproven or investigational and may be denied. Examples include routine use in populations or indications outside those listed (see policy coverage criteria).

Claims for CMA that do not meet listed medical necessity indications may be denied as not medically necessary
FDA clearance alone is not sufficient to establish coverage

Documentation Required

Consent and counseling

Genetic counseling and informed consent are required elements of appropriate ordering. Document evidence of pretest counseling and informed consent in the medical record prior to performing CMA, especially for prenatal testing and when testing minors. Post-test counseling should also be documented.

Provide and document pretest genetic counseling that explains benefits, limitations, potential findings (VUS, non-paternity, consanguinity, adult-onset conditions)
Obtain and document informed consent before ordering CMA (required for prenatal CMA)
Document post-test counseling and follow-up plan in the record

Documentation Required

Required follow-up and benefit verification

Document and perform appropriate follow-up testing and benefit verification when CMA identifies an imbalance or when additional clarification is needed. Follow-up may include reflex cytogenetic/FISH studies, parental testing to determine inheritance, and clinical genetic evaluation. Verify member benefits and any prior authorization requirements before ordering.

If CMA identifies CNV of uncertain significance or imbalance, perform recommended follow-up (cytogenetic/FISH, parental studies) and document plans
Verify member benefits and any plan-specific prior authorization requirements prior to testing

Note

State-specific prenatal documentation reference

State-specific prenatal coverage rules may apply. For New Mexico members, refer to the State of New Mexico Medical Assistance Program Manual, Supplement 22-10 for prenatal clinical coverage criteria and billing guidance.

Follow New Mexico-specific prenatal documentation and billing requirements where applicable

Step Therapy

None specified in these chunks

No step therapy or quantity limit requirements are specified in this policy excerpt. When prior authorization is not required by the plan, follow standard ordering and documentation practices.

No step therapy specified in policy excerpt
Follow payer rules for authorization when applicable

Note

Provider action — general note

Some provider actions are not explicitly stated in this excerpt; however, clinicians should ensure clinical documentation supports the indication, consent, counseling, and that coding and authorization match the clinical scenario.

Ensure clinical documentation supports the stated indication and selected diagnosis/procedure codes
Match authorization requests to documented clinical findings

inv-47: Intrauterine Fetal Demise or Stillbirth definition — fetal death at or after 20 weeks' gestation

Gestational thresholdFetal death at or after 20 weeks' gestation

Alternate termsIntrauterine fetal demise; stillbirth

Guidance contextReferenced by ACOG/SMFM 2020 (reaffirmed 2021) in prenatal guidance

inv-48: Well-Delineated Genetic Syndrome — recognizable collection of traits associated with specific disease

Core definitionA recognizable collection of traits or abnormalities that tend to occur together and are associated with a specific disease

Identification methodsDistinguishing characteristics such as facial features, physical traits, lab tests, or family history can identify a syndrome

ExamplesDown syndrome, Prader-Willi, Rett, Turner, Williams (non-exhaustive)

inv-49: Chromosome microarray analysis (CMA) — genomic test description including aCGH and SNP arrays

Test descriptionGenomic test (includes aCGH and SNP array) that analyzes DNA for deletions and duplications (copy number variations) across targeted regions or genome-wide

ApplicationsUsed for detection of chromosomal abnormalities associated with congenital anomalies, DD/ID, and other neurodevelopmental disorders

Sample requirement (prenatal)Diagnostic prenatal CMA requires invasive sampling (e.g., amniocentesis or CVS)

inv-50: Copy number variation (CNV) — deletion/duplication description

DefinitionAlteration involving deletion and/or duplication of one or more sections of DNA

Phenotypic impactMay be benign or pathogenic and can affect clinical phenotype

Detection methodDetected by aCGH or SNP array as changes in copy number compared with control/reference DNA

inv-51: aCGH — array comparative genomic hybridization approach definition

MethodArray comparative genomic hybridization (aCGH) detects CNVs by comparing an individual's DNA to a control; unequal hybridization indicates DNA alteration

Detected alterationsLarge deletions or duplications (copy number changes)

Clinical noteaCGH may be targeted to syndrome-associated regions or genome-wide

inv-52: SNP array — single-nucleotide polymorphism array approach definition

MethodSNP array uses probes specific to single base pair sites and compares an individual's DNA to a control reference sequence to detect CNVs

Signal interpretationDifferences between individual and reference DNA indicate deletions or duplications; also can detect areas of homozygosity

Clinical useOne of two main CMA modalities alongside aCGH for constitutional testing

inv-53: CNV (duplicate key) — copy number variant definition

DefinitionCopy number variant (CNV): a deletion or duplication of genomic sequence that may be benign or pathogenic and can underlie phenotypic abnormalities

DetectionDetected by CMA modalities (aCGH or SNP array) via comparison to control/reference DNA

InterpretationDatabases and parental testing are used to classify CNVs as pathogenic, benign, or of uncertain significance

inv-54: chromosomal microarray analysis (CMA) — CMA (including array CGH and SNP array)

ScopeChromosomal microarray analysis (CMA) includes array CGH and SNP array modalities

PurposeUsed to detect genome-wide copy number variants and chromosomal imbalances that may not be identified by karyotype

Clinical contextsConsidered first-line for many congenital anomalies, DD/ID, ASD, and useful in stillbirth/POC evaluation per professional guidance

inv-55: VUS (prenatal considerations) — VUS reporting thresholds and prenatal reporting considerations

Prenatal reporting thresholds (SOGC/CCMG)VUS smaller than 500 Kb deletion or 1 Mb duplication should not be reported in the prenatal setting; larger VUS may be reported only with significant supporting evidence

Reporting considerationsSecondary findings for significant childhood-onset conditions should be reported; adult-onset conditions reported only if requested or to prevent harm

Counseling requirementParental decisions for reporting incidental findings and genetic counseling for pre/post-test reporting are recommended

inv-56: Chromosomal microarray (CMA) — summary definition and first-line status for certain conditions

Summary definitionCMA (array CGH and SNP array) are genomic testing methods to detect copy number variants and chromosomal imbalances

First-line statusRecommended as first‑tier (first-line) testing for congenital anomalies, autism, and intellectual disability by multiple societies (ACMG/ISCA/ACOG/SMFM)

LimitationsCannot detect balanced rearrangements and may yield variants of uncertain significance requiring further testing and counseling

inv-57: Syndromic features — examples of syndromic presentations

Syndromic examplesFragile X, PTEN hamartoma syndrome, Rett syndrome, tuberous sclerosis, Prader-Willi syndrome, Angelman syndrome, Down syndrome

Clinical implicationIf a recognized genetic syndrome is apparent, targeted testing for that syndrome is recommended first per AACAP; CMA follows if negative

Use in interpretationPresence of syndromic features may increase diagnostic yield and guide testing sequence