Modifiedfallon_community_health_plan_incPolicy N/A

Prenatal Screening Clinical Coverage Criteria

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Clinical coverage criteria for prenatal aneuploidy screening (including cell-free DNA/NIPS), various serum/ultrasound screening options, and carrier genetic testing for Fallon Community Health Plan members; describes what is covered, exclusions, and payer-specific variations.

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Modifiedfallon_community_health_plan_incPolicy N/A

Prenatal Screening Clinical Coverage Criteria

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Policy Summary

Payerfallon_community_health_plan_inc

PolicyPrenatal Screening Clinical Coverage Criteria

Policy CodePolicy N/A

Change TypeCoverage & operational updates

Effective DateNov 21, 2024

Last ReviewJan 27, 2026

Next Review DateN/A

Key ActionDo not require prior authorization for CPT 81420 screening when submitted by a contracted provider; continue to obtain prior authorization for other genetic tests.

SourceLink

POLICY UPDATE CHANGES

Effective for dates of service on or after November 21, 2024, screening for fetal chromosomal aneuploidy (CPT 81420) does not require prior authorization when the claim is submitted by a contracted provider.

All genetic testing including preconception and prenatal carrier screening requires prior authorization.

Cell-free DNA screening (CPT 81420) is covered for singleton or twin pregnancies and if no prior cell-free DNA testing has been performed in the current pregnancy.

Added exclusions for noninvasive prenatal screening for fetal sex determination, combination tests that include one or more experimental and investigational components, and carrier screening for an inherited disorder performed more than once per lifetime.

Updated coverage criteria for cell-free DNA effective for dates of service on or after November 21, 2024.

Added new section for Carrier Screening for Genetic Disorders with adoption of InterQual® Criteria.

CPT 81420aneuploidy screening code made prior-auth exempt for contracted providers

3-5%pregnancies complicated by birth defects or genetic disorders (overview incidence)

1 in 150chromosomal abnormalities present in live births (approximate)

CPT 81422microdeletion screening labeled experimental/investigational (excluded)

99%reported detection rate for trisomy 21 with cell-free DNA

Not covered (MassHealth: covered)Medicare vs MassHealth stance on NIPS

Coverage Criteria — Prenatal Screening and Carrier Testing

Cell-free DNA screening (CPT 81420) coverage criteria

Covered when ALL of the following are met

Eligibility: Member has a singleton or twin pregnancy AND member has not previously had cell-free DNA testing in the current pregnancy.

Effective 11/21/2024 screening CPT 81420 does not require prior authorization when claim is submitted by a contracted provider.

When cell-free DNA is NOT medically necessary

Cell-free DNA screening is not medically necessary in the following scenarios

Exclusion scenarios: Higher order gestations (>= 3 fetuses); fetal demise; co-twin demise (vanishing twin); multiple fetal anomalies; concurrent screening with other prenatal screening approaches; prior to 9 weeks gestation; to determine fetal sex only; to evaluate single-gene abnormalities (e.g., CFTR, HBB, SMN1, RhD); microdeletions (e.g., DiGeorge, Cri-du-chat); twin zygosity; genome-wide copy number variants; aneuploidies of other autosomes (e.g., trisomy 7, 15, 16, 22); polygenic risk assessment.

Testing in some scenarios may have a role under certain circumstances but not routine screening.

Alternative screening approaches (medically necessary alternatives)

When cell-free DNA is not used or as alternative approaches, patients may choose ONE screening approach:

Screening options: First-trimester screening (PAPP-A and free beta hCG with or without AFP plus nuchal translucency ultrasound between 10–14 weeks); Second-trimester quad screen (hCG, AFP, inhibin A, unconjugated estriol between 15–22 weeks); Combined approaches (integrated, serum-integrated, stepwise sequential, contingent).

Patients should choose one screening approach and not undergo multiple approaches; all patients should be offered second-trimester anatomy ultrasound between 18–22 weeks regardless of screening.

Targeted carrier screening criteria

Targeted carrier screening may be considered medically necessary when ALL are met

Targeted carrier screening: Member is currently pregnant or considering pregnancy; results are clinically useful to medical management; documented increased risk (positive family history or ancestry/ethnicity) OR known familial variant with testing limited to that variant; previous carrier screening or targeted testing for the gene(s) of interest has not been performed.

If carrier testing is planned, refer to InterQual® Molecular Diagnostics criteria for the disorder.

Carrier screening for CF and SMA

Carrier screening recommendations and testing methods

CF & SMA screening: Carrier screening for cystic fibrosis and spinal muscular atrophy may be offered regardless of family history or ancestry; Fallon Health uses InterQual® criteria for CPT 81220 (CFTR targeted mutation analysis) and CPT 81329 (SMN1 copy number analysis). Complete CFTR sequencing is not appropriate for routine carrier screening; SMN1 copy number analysis is sufficient for SMA carrier screening (sequence analysis indicated only if an SMN1 deletion is detected).

Copy number analyses of SMN1 (and reflex SMN2 when indicated) are the usual testing workflow.

Covered screening modalities

Covered tests and screening strategies with performance characteristics:

Cell-free DNA (NIPS/NIPT): Cell-free DNA screening is the most sensitive and specific screening test for common fetal aneuploidies with the highest detection for trisomy 21 (reported ~99%); it can be performed as early as 9 weeks though results are more reliable at >=10 weeks; ultrasound is recommended before testing.>=10 weeks preferred

Screening is not diagnostic; false positives and false negatives occur.

First-trimester screening: Combination of maternal serum analytes (free-beta hCG, PAPP-A +/- AFP) and nuchal translucency ultrasound between 10 and 14 weeks to estimate risk for trisomies 13, 18, and 21; detection ~82–87% with a 5% screen positive rate.10–14 weeks

Allows earlier diagnosis; enlarged NT correlates with increased risk.

Second-trimester (quad) screening: Quad screen performed between 15 and 22 weeks measuring hCG, AFP, inhibin A, and unconjugated estriol combined with clinical factors; detection ~81% for trisomy 21 and also screens for open neural tube defects.

NIPT / cfDNA coverage stance

Coverage determinations and clinical guidance summarized from analysis of evidence and professional guidance:

Established coverage: NIPT/cfDNA for common fetal aneuploidies (trisomy 21, 18, 13) is the established application of noninvasive prenatal screening; laboratories have expanded applications but evidence and clinical utility vary.

See policy sections for specific covered indications and limitations.

Investigational / Not supported

Tests considered investigational or not supported due to insufficient evidence of improved clinical outcomes or guideline support:

Investigational tests: Noninvasive prenatal testing for fetal microdeletion syndromes (e.g., CPT 81422), fetal single-gene disorders, twin zygosity testing, genome-wide cfDNA for deletions/duplications, and combination tests that include one or more investigational components are considered investigational and excluded from coverage.

Positive predictive values for these conditions are substantially lower and clinical utility is not established.

ACOG advisory on single-gene cfDNA

ACOG recommendation: ACOG states single-gene cfDNA screening is not recommended in pregnancy due to insufficient data on accuracy and predictive values in the general population.

Practice advisory published 2019 and reaffirmed 2021 (reaffirmation noted through 2024).

The policy excludes certain noninvasive prenatal screening (NIPS/cfDNA) applications that are considered experimental or investigational and not covered. Specifically, screening for fetal chromosomal microdeletions (CPT 81422), twin zygosity testing (e.g., CPT 0060U), and single-gene disorder screening (CPTs 81302, 81404–81408, 81442) are listed as exclusions. The policy also states that fetal sex determination by cfDNA is considered investigational and that ultrasound is the standard of care for fetal sex determination.

The document distinguishes the established use of cfDNA for common aneuploidies (CPT 81420) from these excluded applications and notes that combination tests which include one or more investigational components (for example, panels that add microdeletion, single-gene, zygosity, or fetal sex screens) are likewise considered experimental and excluded from coverage.

The policy explicitly lists microdeletion screening (CPT 81422) and twin zygosity testing (CPT 0060U) as excluded, citing limited and heterogeneous evidence for copy number variant (CNV) detection by cfDNA and low positive predictive value due to rarity of individual microdeletion syndromes. The microdeletions noted include examples such as 22q11.2 (DiGeorge), 5p (Cri‑du‑chat), 1p36, 4p (Wolf‑Hirschhorn) and others.

For single-gene disorder screening (CPTs 81302, 81404–81408, 81442), the policy references professional guidance (ACOG) stating insufficient data on accuracy and predictive values in the general population; accordingly these single-gene cfDNA tests are considered experimental and investigational and excluded from coverage.

Carrier screening performed more than once per lifetime is excluded except when rescreening is justified by technical advances and recommended by a genetics professional. The policy requires that any decision to rescreen be based on a genetics expert assessment of incremental benefit and cites ACOG guidance (ACOG Committee Opinion Number 691) as the supporting framework for this lifetime rescreening exclusion.

This exclusion was added to the policy history during recent annual reviews; exceptions may be made only when new testing methods provide a clear technical rationale supported by genetics consultation.

Annual reviews added several specific exclusions to clarify investigational applications. Newly added exclusions include noninvasive prenatal screening for fetal sex determination, and combination tests that include one or more experimental/investigational components (examples listed in the policy include MaterniT 21 PLUS Core + ESS, Panorama extended panel with optional microdeletion testing, QNatal Advanced with optional microdeletion/sex screening, and Unity Complete).

The history notes these exclusions were incorporated into the policy during its 2025–2026 reviews to align coverage language with available evidence and to explicitly exclude tests that mix established aneuploidy screening with investigational components.

Cell‑free DNA screening (cfDNA/NIPT) is designated not medically necessary for several clinical situations, including higher order gestations (≥3 fetuses), pregnancies with fetal demise or co‑twin demise (vanishing twin), and when multiple fetal anomalies are present. The policy also lists concurrent use of other prenatal screening approaches and testing prior to 9 weeks gestation as non‑covered scenarios.

Additionally, cfDNA is not considered appropriate for isolated use in cases of fetal sex determination, evaluation of single‑gene abnormalities, microdeletions, twin zygosity, genome‑wide copy number variants, other rare autosomal aneuploidies (e.g., trisomy 16, 22), or polygenic risk assessment—these applications are either non‑medical or investigational per the exclusions.

The policy explains the rationale for excluding routine cfDNA screening for copy number variants and microdeletions: CNV testing with cfDNA has variable and generally poorer performance than screening for common trisomies, study sample sizes are small, confirmatory testing is often lacking, and sensitivity estimates vary substantially across studies. Because individual microdeletion syndromes are rare, the positive predictive value (PPV) is low, so most positive cfDNA microdeletion results will be false positives and require diagnostic confirmation by CVS or amniocentesis with chromosomal microarray.

Professional guidance (ACOG/ACMG) concurs that limited clinical validation and low PPV make routine cfDNA microdeletion screening not recommended; genome‑wide cfDNA for large deletions/duplications is similarly not validated and considered investigational.

The policy states that cfDNA screening for single‑gene disorders is not recommended because current evidence is insufficient to establish analytic and clinical validity, and positive and negative predictive values in the general obstetric population are not well defined. ACOG practice advisories (2019, reaffirmed 2021) are cited to support the conclusion that single‑gene cfDNA screening should not be used routinely in pregnancy.

As a result, these single‑gene cfDNA applications are considered investigational and excluded from coverage until more robust accuracy and outcome data become available.

Given the limited evidence of clinical utility and absence of guideline recommendations, the policy considers NIPT for microdeletion syndromes, single‑gene disorders, and twin zygosity to be investigational and not medically necessary. Combination tests that include any of these investigational components are likewise investigational.

The policy rationale highlights that outcome studies demonstrating improved health outcomes are lacking for these expanded applications, and that positive predictive values are substantially lower than for common aneuploidies, supporting the investigational classification.

Coding — Covered and Excluded Codes

Covered CPT Codes (aneuploidy screening)CPTCovered

81420

Noninvasive prenatal screening for aneuploidy (chromosomes 13,18,21,X,Y)

Experimental / Investigational (excluded)CPTExperimental

81422

Noninvasive prenatal screening for fetal chromosomal microdeletions

Experimental / Investigational (excluded)HCPCSExperimental

0060U

Twin zygosity testing (Natera)

Experimental / Investigational (single-gene NIPS excluded)CPTExperimental

81302	Molecular pathology (example single-gene) - Vistara (Natera)
81404	Molecular pathology (single-gene)
81405	Molecular pathology (single-gene)
81406	Molecular pathology (single-gene)
81407	Molecular pathology (single-gene)
81408	Molecular pathology (single-gene)
81442	Noninvasive prenatal screening for single-gene disorders (example)

Carrier screening / expanded panelsCPT

81443	Carrier screening panel (general population)
81412	Ashkenazi Jewish carrier screening panel
81220	CFTR targeted mutation analysis (Cystic Fibrosis panel)
81329	SMN1 copy number analysis (Spinal Muscular Atrophy)

Medicare non-covered molecular pathology codesCPTNot Covered

81507

Molecular pathology / genomic sequencing procedures (example grouped code referenced in Medicare LCD)

Excluded (microdeletions)CPTNot Covered

81422

Noninvasive prenatal screening for fetal chromosomal microdeletions

Excluded (twin zygosity)CPTNot Covered

0060U

Twin Zygosity, Natera, Inc.

Excluded (single-gene disorder screening)CPTNot Covered

81302	Single-gene prenatal screening (example listed)
81404	Single-gene prenatal screening
81405	Single-gene prenatal screening
81406	Single-gene prenatal screening
81407	Single-gene prenatal screening
81408	Single-gene prenatal screening
81442	Single-gene prenatal screening

Informational coding list (procedures and genetic test codes)mixed

59000	Amniocentesis; diagnostic.
59001	Amniocentesis; diagnostic Amniocentesis; therapeutic amniotic fluid reduction (includes ultrasound guidance).
59015	Chorionic villus sampling, any method.
76805	Ultrasound, pregnant uterus, real time with image documentation, fetal and maternal evaluation, after first trimester (> or = 14 weeks 0 days), transabdominal approach; single or first gestation.
81220	CFTR gene analysis; common variants.
81243	FMR1 gene analysis; evaluation to detect abnormal (expanded) alleles.
81508	Fetal aneuploidy DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy.
81509	Fetal congenital abnormalities, biochemical assays of two proteins (PAPP-A, hCG), algorithm reported as a risk score.
81510	Fetal congenital abnormalities, biochemical assays of three analytes (AFP, uE3, hCG), algorithm reported as a risk score.
81511	Fetal congenital abnormalities, biochemical assays of four analytes (AFP, uE3, hCG, DIA) utilizing maternal serum, algorithm reported as a risk score.

1–10 of 15

1/2

Carrier frequency threshold for panel inclusion (ACOG)

ACOG carrier frequency thresholdCarrier frequency >= 1 in 100 for inclusion on expanded carrier screening panels

Panel selection criteria (ACOG)Disorders included should have well-defined phenotype and detrimental effect on quality of life

Exclusions for adult-onsetDisorders primarily associated with adult-onset disease should not be primary inclusions

ACMG Tier 3 carrier screening frequency

ACMG Tier 3 frequency

Provider Actions — Authorization, Documentation, and Billing

Prior Authorization

Prior authorization required for genetic testing; CPT 81420 exemption

All genetic testing (including preconception and prenatal carrier screening) requires prior authorization. Effective for dates of service on or after November 21, 2024, screening for fetal chromosomal aneuploidy (CPT 81420) does not require prior authorization when the claim is submitted by a contracted provider.

Prior authorization applies to genetic tests including carrier panels and molecular assays unless the CPT 81420 exception applies for contracted providers.
The CPT 81420 prior-authorization exception is effective 11/21/2024 and applies only when the claim is submitted by a contracted provider.

Note

MassHealth coverage differs — cfDNA aneuploidy covered without age/risk limits

MassHealth covers noninvasive prenatal screening (cell-free DNA) for aneuploidy for MassHealth members without limiting access based on maternal age or other risk factors; however, MassHealth follows its own medical necessity guidelines for Fragile X carrier screening and the Plan's carrier-screening criteria apply where MassHealth guidance is absent.

Background and Evidence Summary

Chromosomal abnormalities (aneuploidy, translocations, duplications, deletions) complicate approximately 3–5% of pregnancies, with trisomy 21 among the most common aneuploidies. The policy emphasizes that all patients should be offered aneuploidy screening or diagnostic testing and counseled about test limitations and the option of diagnostic procedures (CVS or amniocentesis) for confirmation of positive screening results.

This epidemiologic context underpins the policy distinction between established cfDNA applications for common aneuploidies (covered under specified criteria) and investigational/experimental uses that lack sufficient evidence of clinical benefit.

Definitions and Key Terms

Cell-free DNA screening (NIPS/NIPT) definition

DefinitionNoninvasive prenatal screening (NIPS/NIPT) analyzes cell‑free DNA in maternal plasma to screen for fetal aneuploidies; it is a screening, not diagnostic, test

Analyte sourceTest analyzes fetal fraction of cell‑free DNA present in maternal plasma

Role of counselingPatients should be counseled that cfDNA remains a screening test and positive results warrant diagnostic testing (CVS/amniocentesis) for confirmation

Fetal fraction

What fetal fraction isThe percentage of fetal to total cell‑free DNA in maternal circulation

Gestational effectFetal fraction increases with gestational age; results are more reliable at >=10 weeks (labs may perform as early as 9 weeks)

Revision History and Policy Changes

Material operational changes were implemented effective November 21, 2024: CPT 81420 (cfDNA for common aneuploidies) no longer requires prior authorization when the claim is submitted by a contracted provider, while the policy maintains that all other genetic testing (including preconception and prenatal carrier screening) requires prior authorization unless otherwise specified.

The policy history documents additional updates in 2025–2026, including added exclusions (fetal sex determination, combination tests with investigational components, and lifetime carrier rescreening limits) and the addition of a Carrier Screening for Genetic Disorders section adopting InterQual® criteria; these operational and coverage clarifications were approved by the Utilization Management Committee during the annual reviews.

Policy Summary

Payerfallon_community_health_plan_inc

PolicyPrenatal Screening Clinical Coverage Criteria

Policy CodePolicy N/A

Change TypeCoverage & operational updates

Effective DateNov 21, 2024

Last ReviewJan 27, 2026

Next Review DateN/A

Key ActionDo not require prior authorization for CPT 81420 screening when submitted by a contracted provider; continue to obtain prior authorization for other genetic tests.

SourceLink

On This Page

Single point-in-time test.

Combined/integrated/serum-integrated screening: Integrated, serum-integrated, stepwise sequential, and contingent approaches use first- and second-trimester data in different sequences to increase detection (integrated ~96% for trisomy 21); serum-integrated omits NT when NT unavailable.varies by method

Integrated yields a single second-trimester result but delays timing of final result.

Sequential or contingent strategies: Stepwise sequential: first-trimester screen followed by additional testing if positive (detection ~95%). Contingent: stratify into risk groups with conditional follow-up; detection varies ~80–94%.per laboratory cutoffs

These are staged screening algorithms rather than diagnostic testing.

Carrier frequency >= 1 in 200 (Tier 3)

Scope of Tier 3Total of 113 genes (97 autosomal recessive and 16 X‑linked conditions) included in Tier 3

Recommendation populationACMG recommends offering Tier 3 carrier screening to all pregnant patients and those planning pregnancy

Gestational timing for ultrasound reliability

Ultrasound reliability timingFirst‑trimester ultrasound (prior to 14 weeks) is considered accurate for chorionicity determination; ultrasound performed in second or third trimester may be less reliable

When cfDNA is particularly usefulcfDNA zygosity determination may be particularly important for patients without a first‑trimester ultrasound or those in 2nd/3rd trimester where sonographic chorionicity is less reliable

Impact on managementIncorrect ultrasound assignment of chorionicity can occur; cfDNA can identify zygosity that may guide management though improved clinical outcomes are not established

MassHealth will not limit coverage for cfDNA aneuploidy screening based on age or risk factors unless consistent with ACOG standards.
MassHealth has separate guidelines for Fragile X carrier screening; Fallon criteria do not apply for that condition.

Prior Authorization

Historical prior-authorization requirements for specific genetic codes (e.g., 0009M)

Certain genetic testing codes have required prior authorization historically (for example, code 0009M was previously added requiring prior authorization); coverage criteria for cell-free DNA were updated effective November 21, 2024.

Policy history documents that code 0009M previously required prior authorization.
Coverage criteria for cell-free DNA were updated effective 11/21/2024, which altered prior-authorization handling for CPT 81420.

Note

Clinical documentation and laboratory requirements for genetic testing

Guidelines for genetic testing require that test results be clinically useful to management, clinical documentation in the treating physician’s medical record must clearly support medical necessity, sufficient evidence exists for validity and predictive accuracy, and testing be performed by a contracted laboratory when available.

Document how the test result will change management.
Maintain medical record documentation that supports the medical necessity of the requested genetic test.
Use a contracted laboratory for testing when one is available.

Step Therapy

Document staged (sequential/contingent) screening workflows and thresholds

When using sequential or contingent screening strategies, document the staged workflow and the threshold-based pathway used (e.g., first‑trimester screen with NT, then offer cfDNA or diagnostic testing if the lab’s positive cutoff is exceeded).

Stepwise sequential: perform first‑trimester screen; if risk exceeds the laboratory's positive cutoff, notify patient and offer diagnostic testing or cfDNA; otherwise plan quad screen in second trimester.
Contingent: stratify patients into high/medium/low risk after first‑trimester screen; offer additional testing to high-risk and quad screening to intermediate-risk groups; document the selected path.

Note

Provider responsibilities per genetic testing guidelines

Follow the Guidelines for Genetic Testing: results must be clinically useful, documentation must support medical necessity, evidence of test validity must exist, and testing should be performed by a contracted laboratory when available.

Ensure the medical record explains how results will be used in patient management.
Retain supporting literature or rationale demonstrating validity/predictive accuracy when applicable.

Documentation Required

Documentation requirements: justify medical necessity and record result utility

Clinical documentation must clearly support medical necessity for genetic tests; results must be clinically useful to management and there must be sufficient evidence of test validity and predictive accuracy.

Include the clinical indication, relevant family history, and how results will alter management in the patient's medical record.
Confirm testing will be performed by a contracted laboratory when available.

Documentation Required

Pre-test ultrasound and required clinical documentation before cfDNA

Obtain and document an ultrasound before cell-free DNA testing to confirm gestational age, viability, number of fetuses, and identify findings (e.g., vanishing twin) that affect test appropriateness or interpretation; first‑trimester ultrasound prior to 14 weeks is accurate for chorionicity determination.

Document gestational age and fetal number identified on ultrasound.
If a vanishing twin or fetal anomaly is present, record findings as they may affect cfDNA interpretation.

Note

Follow Medicare and MassHealth coverage criteria where applicable

For Medicare Advantage members, Fallon follows CMS NCDs/LCDs; documentation should support medical necessity under applicable Medicare or MassHealth frameworks when those apply.

Use LCD/NCD criteria for Medicare Advantage determinations where applicable.
Follow MassHealth Medical Necessity Guidelines for MassHealth members as specified.

Denial Risk

Medicare Advantage denial risk for prenatal screening codes

Prenatal screening tests for fetal chromosomal aneuploidy (CPT 81420, CPT 81422, and CPT 81507) are not covered for Medicare Advantage members and are denied as not reasonable and necessary per LCD L35000.

Do not expect coverage for CPT 81420, 81422, or 81507 for Medicare Advantage members; claims are denied automatically as not medically necessary when LCD L35000 applies.
Carrier screening for inherited disorders is also not covered for Medicare Advantage members per LCD L35000.

Denial Risk

Exclusions (microdeletions, twin zygosity, single‑gene NIPS) may trigger claim denial

Claims for noninvasive prenatal screening for fetal chromosomal microdeletions (CPT 81422), twin zygosity (CPT 0060U), single-gene disorder screening (CPTs 81302, 81404–81408, 81442), and fetal sex determination may be denied as experimental and investigational per the policy exclusions.

Microdeletion screening (CPT 81422) is labeled experimental/investigational and excluded.
Twin zygosity testing (CPT 0060U) and listed single-gene NIPS codes are excluded and may be denied.
Combination tests that include investigational components are also excluded.

Denial Risk

Verify member’s benefit plan — plan limitations can cause denials

Coverage of services described in this policy may vary by product or employer group; check the member’s Evidence of Coverage because the benefit plan's specific provisions govern if they conflict with this policy.

Confirm member coverage and any plan-specific exclusions or limits before ordering tests.
State and federal mandates may alter coverage for fully‑insured or non‑ERISA plans.

Influencing factorsFetal fraction is affected by maternal factors and fetal factors, notably multiple gestation and fetal aneuploidy

Copy number variants (CNVs)

Definition of CNVsCopy number variants (CNVs) are structural genomic variations where sections of DNA are deleted or duplicated, altering copy number

Includes microdeletions/microduplicationsMicrodeletions and microduplications are CNVs often too small for detection by standard karyotype but detectable by chromosomal microarray or sequencing

Limitations for cfDNA screeningScreening for CNVs/microdeletions via cfDNA has lower validated clinical performance and low positive predictive value due to low prevalence; diagnostic testing with chromosomal microarray is recommended when evaluating for submicroscopic changes

Carrier screening

PurposeCarrier screening identifies individuals at risk of transmitting autosomal recessive or X‑linked genetic disorders

Selection criteriaHistorically selected based on severity, prevalence, analytic validity, genotype‑phenotype correlation, and available reproductive options

Panel approachesExpanded carrier panels are available but panel content should meet professional criteria (e.g., ACOG/ACMG) and be evaluated for clinical utility

Twin zygosity testing (SNP-based cfDNA)

DefinitionTwin zygosity testing via SNP‑based cfDNA determines monozygosity versus dizygosity in twin gestations

Potential utilityMay improve accuracy of chorionicity assessment compared to ultrasound in some cases and identify risk patterns relevant to management

Evidence limitationsClinical outcome benefits are not established; studies show cfDNA can correct occasional ultrasound misclassification but more data are needed