ModifiedEmblemHealthPolicy AHS-G2055

Prenatal Testing for Fetal Aneuploidy - Lab Benefit Program (LBM)

This reimbursement policy governs coverage and limitations for prenatal screening and diagnostic testing for fetal aneuploidy (chromosomes 13, 18, 21, X, Y) under EmblemHealth's Lab Benefit Program and applies to claims submitted to the payer.

Policy Summary

PayerEmblemHealth

PolicyPrenatal Testing for Fetal Aneuploidy - Lab Benefit Program (LBM)

Policy CodePolicy AHS-G2055

Change TypeNew policyadministrative reformat and renumbering

Effective DateMay 15, 2026

Next Review Date

Key ActionApply coverage criteria based on the member's benefit at time of request and follow applicable state and federal Medicare/Medicaid specifications.

SourceLink

POLICY UPDATE CHANGES

New Policy effective 5/15/2026.

Reformatted and reorganized policy, transferred content to new template with new Reimbursement Policy Number.

singleton/twins ≥10wNIPS coverage population

13,18,21,X,Yaneuploidies addressed

11–14w;15–22wserum/NT windows

penta screennot covered

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

procedure codes listed

Coverage Criteria and Evidence

Coverage Criteria and Exclusions

Covered when benefit plan provides laboratory prenatal testing under the Lab Benefit Program and the individual meets the gestational/clinical parameters below:

Coverage determinations depend on the member's benefit coverage at time of request; Medicare/Medicaid specifications apply where relevant (see State and Federal Regulations).

Covered screening options

First-trimester screening (defined as 11–14 weeks) incorporating maternal serum markers (hCG, PAPP-A) with nuchal translucency (NT).
Second-trimester screening (15–22 weeks) incorporating triple maternal serum markers (hCG, AFP, uE3 with NT) or quad maternal serum markers (hCG, AFP, uE3, DIA with NT).
Integrated, sequential, or contingent first- and second-trimester serum-based screening strategies that incorporate PAPP-A with NT and quad maternal serum markers as specified (first trimester 11–14 weeks; second trimester 15–22 weeks).
Noninvasive prenatal screening (NIPS) using cell-free fetal DNA to detect fetal aneuploidy of chromosomes 13, 18, 21 and sex chromosomes X and Y for singleton or twin pregnancies at ≥ 10 weeks gestation.

Covered diagnostic confirmation: Karyotyping (diagnostic invasive testing via CVS or amniocentesis) to confirm fetal aneuploidy meets coverage criteria when used for confirmatory purposes after positive or equivocal screening results.

Explicit exclusions

Use of the 'penta' screen (includes hyperglycosylated hCG) does NOT meet coverage criteria.
Parallel or simultaneous testing with multiple screening methodologies for fetal aneuploidy does NOT meet coverage criteria.
Screening for higher order multiple gestations (e.g., triplets) does NOT meet coverage criteria.
Repeat screening after a negative screening result does NOT meet coverage criteria.
Screening aimed at detecting chromosomal abnormalities beyond the specified aneuploidies (e.g., microdeletion syndromes, unbalanced translocations, deletions, duplications) does NOT meet coverage criteria.
Testing for determination of fetal sex does NOT meet coverage criteria.

Operational: Benefit verification required prior to ordering; follow applicable State/Federal Medicare or Medicaid rules.

Coverage-relevant findings and operational notes

Key evidence findings and operational considerations that inform the coverage stance and clinical use of prenatal screening tests:

Fetal nasal bone assessment: high successful imaging rates and association with Down syndrome in high-risk populations, but insufficient evidence and lack of standardization for average-risk populations; considered investigational for average-risk use.

Cell-free fetal DNA (cffDNA) is typically detectable by 6–7 weeks gestation, with fetal fraction at ≈10 weeks of at least 3–4%; cffDNA increases throughout gestation and is specific to the ongoing pregnancy at time of sampling.

NIPS/cfDNA methods have improved sensitivity and low false-positive rates for common trisomies in high-risk cohorts, but are screening tests (not diagnostic) and positive results should be followed by diagnostic testing (CVS or amniocentesis).

Limitations of NIPS include false-positive/false-negative results from confined placental mosaicism, vanishing twin effects, maternal mosaicism or malignancy, and reduced fetal fraction (early gestation or elevated maternal BMI) which can increase no-call/test failure rates and aneuploidy risk among no-call results.

Screening evidence and professional recommendations

Summarized evidence and professional society/regulatory guidance relevant to clinical application and payer approach:

Cell-based single trophoblast sequencing tests (e.g., Luna) have shown high analytic concordance with diagnostic testing in limited, small validation cohorts but the developers and professional organizations state these tests are not diagnostic; placental mosaicism and no-result rates were observed in studies and further validation is needed.

Professional society guidance: Prenatal genetic screening (serum screening with or without NT or cell-free DNA screening) and diagnostic testing (CVS or amniocentesis) should be discussed and offered to all pregnant individuals regardless of maternal age or risk; if screening is accepted, use one screening approach and avoid simultaneous multiple screening tests.

Professional societies recommend genetic counseling and offer of diagnostic testing for patients with positive screening results; patients with negative screening results should be counseled that risk is substantially decreased but not eliminated and may still opt for diagnostic testing if indicated by later findings.

Professional guidance (conditional recommendations) supports offering NIPS to most patients after shared decision-making about benefits and limitations; evidence insufficient for routine screening for CNVs (other than select deletions) and for routine identification of rare autosomal trisomies (RATs).

Coverage references and coding lists

Codes referenced in the policy and related coding/payment considerations (policy notes that codes are reference-only and may not be exhaustive):

CPT/HCPCS and other procedure codes referenced include cfDNA NIPS sequencing panels (e.g., 81420), fetal microdeletion cfDNA analysis (81422), unlisted molecular pathology (81479), proprietary algorithmic NIPS codes (e.g., 81507; Harmony example), and maternal serum/biochemical multianalyte assay algorithm codes (81508–81512; AFP 82105; Inhibin A 86336).

Diagnostic and cytogenetic procedure codes referenced include tissue culture/karyotype codes for amniotic fluid or chorionic villus cells and FISH/molecular cytogenetics (e.g., 88235, 88267, 88269, 88271, 88280, 88285).

Additional proprietary and more specific codes listed include newer proprietary/PLA codes (e.g., 0327U, 0341U) and unlisted multianalyte or algorithmic assay codes (81599); procedure codes in the policy are provided for general reference and may not be all-inclusive.

Operational/payment: The policy emphasizes the screening role of NIPS (not diagnostic) and requires confirmatory diagnostic testing for positive screening results; providers should bill using applicable codes consistent with the service performed and payer guidance.

Procedure Codes, Tests, and Gestational Rules

Proprietary tests mentionedmixed

MaterniT21 Plus; verifi Prenatal Test; verifi Plus Prenatal Test; Harmony Prenatal Test; Panorama test; QNatal Advanced; Prequel; CentoNIPT; ClariTest Core; IONA; Sage prenatal screen; Invitae NIPS test; Clarigo; VERACITY; Vanadis NIPT; NIFTY Test; NIFTY Test Pro; informaSeq Prenatal Test; Afp4; SerumIntegratedScreen; FirstScreen; IntegratedScreen; SequentialScreen

Applicable procedure codes referencedmixed

81420	Fetal chromosomal aneuploidy genomic sequence analysis, circulating cell-free fetal DNA
81422	Fetal chromosomal microdeletion(s) genomic sequence analysis, circulating cell-free fetal DNA
81507	Fetal aneuploidy DNA sequence analysis of selected regions using maternal plasma, algorithm reported as risk score (Harmony™ example)
81508	Fetal congenital abnormalities biochemical assays of two proteins (PAPP-A, hCG)
81509	Fetal congenital abnormalities biochemical assays of three proteins
81510	Fetal congenital abnormalities biochemical assays of three analytes (AFP, uE3, hCG)
81511	Fetal congenital abnormalities biochemical assays of four analytes (AFP, uE3, hCG, DIA)
81512	Fetal congenital abnormalities biochemical assays of five analytes (AFP, uE3, total hCG, hyperglycosylated hCG, DIA)
82105	Alpha-fetoprotein (AFP); serum
88235	Tissue culture for non-neoplastic disorders; amniotic fluid or chorionic villus cells

1–10 of 12

1/2

Additional referenced codesmixed

81479	Unlisted molecular pathology procedure
81599	Unlisted multianalyte assay with algorithmic analysis
82106	Alpha-fetoprotein (AFP); amniotic fluid
82677	Estriol
84163	Pregnancy-associated plasma protein-A (PAPP-A)

Gestational age threshold for NIPS

Threshold>=10 weeks gestation

Applies toSingleton or twin pregnancies

PurposeScreening for fetal aneuploidy of chromosomes 13, 18, 21, X, and Y

Gestational age and fetal fraction considerations

DetectabilitycffDNA usually detectable by 6–7 weeks; earliest reported at ~4.5 weeks

Fetal fraction at 10 weeksAt least 3–4% of total cell-free DNA

Provider Responsibilities and Counseling

Prior Authorization

Benefit verification and regulatory checks

Verify member benefits, plan coverage, and any Medicare/Medicaid-specific requirements prior to ordering noninvasive prenatal screening (NIPS) or diagnostic testing. Confirm eligibility for laboratory benefits under the member's plan and obtain prior authorization when required by the payer.

Check member's active coverage and effective dates
Follow Medicare/Medicaid coverage rules where applicable
Obtain prior authorization if the plan or product requires it

Documentation Required

Confirmatory testing recommendation and test availability

Positive NIPS results are screening findings only and should be followed by confirmatory diagnostic testing. Diagnostic testing options (CVS or amniocentesis) should be discussed and made available; multiple commercial NIPS platforms and laboratory-developed tests exist and may have differing performance characteristics.

Key Terms

Aneuploidy

DefinitionAneuploidy = an abnormal number of chromosomes present in the cell (extra or missing chromosomes)

Fetal examplesCommon fetal aneuploidies include trisomy 21 (Down syndrome), trisomy 18 (Edwards), and trisomy 13 (Patau)

Clinical impactCan lead to nonviable pregnancy, neonatal death, or surviving newborns with congenital defects and functional abnormalities

NIPS / cfDNA

DefinitionNoninvasive prenatal screening/testing (NIPS/NIPT/cfDNA/cffDNA) = methods that analyze cell-free fetal DNA in maternal blood to screen for chromosomal aneuploidies

Not diagnosticProvides an estimate of increased or decreased risk; positive results require diagnostic confirmation (CVS or amniocentesis)

Policy Revision History

2026-05-15policy_effectiveLatest

New reimbursement policy (AHS-G2055) for prenatal testing for fetal aneuploidy became effective.

2026-01administrative_reformatting

Policy was reformatted and reorganized and content transferred to a new template with a new Reimbursement Policy Number.

Policy Summary

PayerEmblemHealth

PolicyPrenatal Testing for Fetal Aneuploidy - Lab Benefit Program (LBM)

Policy CodePolicy AHS-G2055

Change TypeNew policyadministrative reformat and renumbering

Effective DateMay 15, 2026

Next Review Date

Key ActionApply coverage criteria based on the member's benefit at time of request and follow applicable state and federal Medicare/Medicaid specifications.

SourceLink

On This Page

Single cell genotyping of trophoblasts isolated from maternal serum (e.g., Luna Prenatal Test) does NOT meet coverage criteria due to insufficient published evidence (investigational).

Extension of NIPS to sex chromosome aneuploidies and rare autosomal trisomies has variable and often lower performance; PPVs and clinical utility are condition- and population-dependent.

Multiple proprietary cfDNA and serum screening platforms are commercially available and have generally been validated in high-risk pregnancies; laboratories/providers should reference specific test validation and intended-use when ordering and interpreting results.

Operational: When a NIPS result is 'no-call' or uninterpretable, repeat draw or further diagnostic evaluation and genetic counseling are indicated because no-call outcomes are associated with increased aneuploidy risk.

Regulatory/regulatory-adjacent note: LDTs are regulated under CLIA as high-complexity tests and are not FDA-cleared; the FDA issued a 2021 safety communication cautioning that NIPS tests can give false results and recommending patients discuss benefits and risks with a genetic counselor or health care provider and that NIPS not be used alone to diagnose chromosomal abnormalities.

Implication of low fetal fraction/early gestationReduced fetal fraction and early gestational age (<10–11 weeks) may reduce detection and increase test failures/no-call results

cfDNA recommended gestational age

Recommended earliest timingAfter 9–10 weeks gestation

AdvantageCan be performed at any gestational age after 9–10 weeks; highest detection rate for common trisomies

LimitationMay reflect maternal aneuploidy or other maternal disease; not diagnostic

Recommend confirmatory diagnostic testing (karyotype or chromosomal microarray) after a positive NIPS result

Be aware that multiple validated commercial NIPS platforms are available (e.g., Harmony, MaterniT21, verifi, Panorama, and others)

Document counseling and the patient’s informed decision regarding follow-up diagnostic testing

Note

Counseling and offers per ACOG/SMFM

Discuss and offer prenatal genetic screening and diagnostic testing options to all pregnant individuals regardless of age or baseline risk. Counseling should cover that NIPS is the most sensitive screening for common aneuploidies but is not diagnostic, can yield false-positive and false-negative results, and does not assess neural tube or many other anomalies. Offer second-trimester fetal anatomy ultrasound (ideally 18–22 weeks) and genetic counseling for positive or inconclusive results.

Offer one screening approach — avoid performing multiple screening tests simultaneously
Inform patients that a negative screen lowers but does not eliminate risk; allow opportunity for diagnostic testing later if indicated
For 'no-call' or uninterpretable NIPS results, inform patient of increased aneuploidy risk and offer ultrasound evaluation and diagnostic testing

Documentation Required

Diagnostic options by gestational age (NSGC)

Offer diagnostic testing according to gestational age per NSGC guidance: CVS is the preferred diagnostic option in the first trimester (when diagnostic testing is pursued prior to ~15 weeks), while amniocentesis is the diagnostic option after 15 weeks. Early amniocentesis prior to 15 weeks is not recommended due to increased risks. For patients presenting prior to 14 weeks who are at increased risk, offer both CVS and amniocentesis; if presenting after 14 weeks, offer amniocentesis. Consider referral for fetal echocardiography when increased nuchal translucency (≥95th percentile or ≥3.0 mm) is identified.

Offer CVS in the first trimester as the diagnostic test of choice if diagnostic testing is desired early
Avoid amniocentesis before 15 weeks; offer amniocentesis for diagnostic testing after 15 weeks
For increased NT (≥95th % or ≥3.0 mm), offer diagnostic testing (CVS or amniocentesis) and consider fetal echocardiogram if NT ≥3.5 mm

Documentation Required

FDA safety communication — NIPS usage and counseling

Adhere to FDA recommendations regarding NIPS: these tests are screening tools (many are laboratory-developed tests not FDA-cleared) and can produce false results. Prior to testing, discuss benefits, limitations, and risks with the patient and recommend genetic counseling when possible. Emphasize that NIPS is not diagnostic and that confirmatory invasive testing should be used to definitively diagnose fetal aneuploidy.

Inform patients that NIPS accuracy/performance have not been evaluated by the FDA and NIPS can yield false-positive or false-negative results
Recommend discussion with a genetic counselor or qualified healthcare provider before testing
Ensure documentation of counseling about NIPS limitations and plan for confirmatory diagnostic testing if screening is positive

LimitationsDoes not assess neural tube defects and may be affected by factors like confined placental mosaicism, vanishing twin, or maternal disease

Nuchal translucency (NT)

DefinitionNuchal translucency (NT) = ultrasound measurement of the fetal nuchal fold in the first trimester associated with increased risk of aneuploidy

TimingMeasured in first trimester screening (typically 11–14 weeks)

UseUsed in combination with maternal serum markers (e.g., PAPP-A, hCG) to assess aneuploidy risk

NIPS/NIPT

DefinitionNoninvasive prenatal screening (NIPS/NIPT) = screening method using cell-free fetal DNA from maternal plasma to estimate fetal aneuploidy risk

RoleMost sensitive and specific screening test for common fetal aneuploidies but not diagnostic; positive results should prompt counseling and offer of diagnostic testing

RecommendationIf screening is accepted, use a single screening approach rather than multiple simultaneous tests

MPS

DefinitionMassively parallel sequencing (MPS) = high-throughput sequencing approach that quantifies millions of DNA fragments to detect chromosomal copy number changes

Role in NIPSUsed to generate genome-wide copy number profiles from maternal plasma or from single fetal cells for aneuploidy detection

PerformanceHas demonstrated high sensitivity and specificity for common trisomies in multiple studies

SNP-based NIPS

DefinitionSNP-based NIPS = method that amplifies and analyzes single nucleotide polymorphisms on chromosomes of interest to detect aneuploidy

Potential confoundersMay be affected by confined placental mosaicism and low fetal fraction leading to false positives or discordance between placenta and fetus

Clinical noteAuthors advise SNP-based methods should not be used standalone without ultrasound or invasive confirmation

Cell-based fetal trophoblast testing

DefinitionCell-based fetal trophoblast testing = tests that isolate fetal trophoblast cells from maternal blood to analyze fetal DNA (example: Luna Prenatal Test)

ApproachIsolates single fetal cells for sequencing to obtain pure fetal DNA and generate genome-wide copy number profiles

LimitationManufacturers and professional organizations caution these tests are not diagnostic and recommend confirmatory diagnostic testing

LDT

DefinitionLaboratory-developed test (LDT) = a test developed and validated by a laboratory and performed in-house under CLIA regulations

Regulatory statusLDTs are regulated by CMS as high-complexity tests under CLIA '88 and are not routinely FDA-cleared or approved for clinical use

Clinical implicationSome NIPS/LDT methods have not been evaluated by the FDA; caution and appropriate counseling are recommended

NIPS / cfDNA — screening test considerations

Screening vs diagnosticNIPS/cfDNA is a screening test, not diagnostic; results can be false positive or false negative

LimitationsMay reflect placental DNA rather than fetal DNA and cannot detect all genetic disorders (e.g., neural tube defects)

Clinical actionPositive or no-call results should prompt genetic counseling, ultrasound evaluation, and offer of diagnostic testing (CVS/amniocentesis)

LDT (alternate reference)

Definition (duplicate)Laboratory-developed test (LDT) = test developed and validated by a laboratory and performed under CLIA; not FDA-cleared

Regulatory noteFDA has noted many NIPS are LDTs and issued safety communications regarding false results and need for counseling

ImplicationLDT status underscores the need for laboratory validation and confirmatory diagnostic testing when indicated

NIPS (alternate reference)

Definition (alternate)NIPS = screening using cell-free fetal DNA from maternal plasma to estimate fetal aneuploidy risk; not diagnostic

Performance and limitsHigh sensitivity/specificity for common trisomies but can yield false positives/negatives and is affected by factors like fetal fraction and placental mosaicism

RecommendationPositive results should be confirmed with invasive diagnostic testing; counseling is recommended prior to testing