ModifiedUnitedHealthcarePolicy CS160NM.E

Preimplantation Genetic Testing and Related Services (for New Mexico Only)

This UnitedHealthcare medical policy governs coverage and medical necessity criteria for preimplantation genetic testing (PGT) and related services for members in New Mexico. It specifies covered indications (PGT‑M, PGT‑SR, and HLA typing), noncovered indications (including PGT‑A, PGT‑P, and elective sex determination), required genetic counseling, and lists applicable procedure codes.

Policy Summary

PayerUnitedHealthcare

PolicyPreimplantation Genetic Testing and Related Services (for New Mexico Only)

Policy CodePolicy CS160NM.E

Change TypeClarified coverage scopeadded documentation requirementsterminology update

Effective DateMay 1, 2026

Next Review DateN/A

Key ActionVerify benefit plan requirements and ensure medical records document genetic counseling and medical necessity before prior authorization.

SourceLink

POLICY UPDATE CHANGES

Replaced language to state that Preimplantation Genetic Testing (PGT) is proven and medically necessary only for monogenic/single-gene defects (PGT‑M) or inherited structural chromosome rearrangements (PGT‑SR) using PCR, next‑generation sequencing, or chromosomal microarray for the listed indications.

Added reference link to the Medical Policy titled Whole Exome and Whole Genome Sequencing (Non‑Oncology Conditions) (for New Mexico Only).

Replaced reference to 'gender' with 'sex'.

Added language specifying medical records documentation requirements to support medical necessity determinations.

Updated Description of Services, Clinical Evidence, and References sections to reflect the most current information.

05/01/2026effective date

PGT‑M, PGT‑SR

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PGT‑A/PGT‑P/sex selectionnot medically necessary

Requiredgenetic counseling

Coverage Criteria for Preimplantation Genetic Testing (PGT)

Medically necessary indications (PGT-M, PGT-SR)

PGT is proven and medically necessary ONLY when ALL of the following apply for PGT-M or PGT-SR:

PGT-M/PGT-SR medical necessity conditions: 1) The embryo is at an increased risk of a recognized inherited disorder; AND 2) The increased risk is due to one of the following: each intended parent is a carrier of the same autosomal recessive disease; at least one parent is a carrier of an autosomal dominant, sex-linked, or mitochondrial condition; or at least one parent is a carrier of a structural chromosome rearrangement; AND 3) The medical condition being prevented must result in Significant Health Problems or Severe Disability and be caused by a single gene (for PGT-M) or structural changes of a parent's chromosome (for PGT-SR).

PGT must be ordered after genetic counseling.

HLA typing (to enable sibling transplant)

Covered when ALL of the following are met:

HLA typing on embryo: PGT is proven and medically necessary for human leukocyte antigen (HLA) typing on an embryo when the future child is intended to provide bone marrow or blood to treat an affected sibling.

Evidence summaries (not formal coverage criteria)

Findings and observed associations reported in literature excerpts (not formal coverage criteria):

PGT vs Spontaneous Conception (SC): Multiple meta-analyses and systematic reviews report pregnancies following PGT are associated with higher relative risk of low birth weight, preterm delivery, and hypertensive disorders compared with spontaneously conceived pregnancies; gestational age and birth weight were lower in PGT vs SC (e.g., Zheng et al. RR for LBW vs SC 3.95; mean GA -0.76 weeks; mean birth weight -163.8 g).see cited risk estimates

PGT vs IVF/ICSI: When compared with pregnancies following IVF/ICSI, obstetric and neonatal outcomes after PGT are similar or favorable for some outcomes but PGT-associated pregnancies had higher risk of hypertensive disorders compared with IVF/ICSI (e.g., 50% higher risk reported).see cited percent changes

PGT-M outcomes: Pooled observational data for PGT-M indicate clinical pregnancy and live birth rates per cycle of approximately 34% and 29.7%, respectively; concurrent use of PGT-A with PGT-M was associated with higher clinical pregnancy and live birth rates in subgroup analyses (concurrent PGT-A CPR 43.3% LBR 37.6% per cycle).

Evidence summary and inferred coverage-relevant conclusions

Summary of clinical evidence and populations with potential benefit

PGD-HLA outcomes: PGD-HLA diagnostic efficacy was 78.5% in a multicenter study of 704 cycles (364 couples); live birth rates per embryo transfer were comparable to existing PGD data when ET was completed, though diagnostic efficacy and pregnancy rates were lower than general PGD reports.

Limitations include maternal age, oocyte yield, and heterogeneous practices.

PGT-A — advanced maternal age: Systematic reviews and meta-analyses indicate PGT-A may improve implantation, clinical pregnancy, and live birth outcomes in individuals older than 35 years and may reduce miscarriage rates in this subgroup, though evidence is heterogeneous.age > 35 years

PGT-A — recurrent reproductive failure/loss: Some reviews and registry analyses suggest PGT-A can improve implantation and live birth outcomes and reduce miscarriage in populations with recurrent implantation failure or recurrent pregnancy loss, but results are mixed and high-quality RCTs are limited.

Evidence-informed coverage considerations

Guidance and summarized evidence relevant to coverage determinations:

PGT-A overall utility: Systematic reviews and randomized trials show mixed or limited benefit of routine PGT-A; some analyses found reduced ongoing pregnancy or clinical pregnancy rates or no improvement in live birth rate, and routine clinical practice of PGT-A is not supported.

Cochrane/other systematic reviews and STAR trial cited.

Potential subgroups with suggested benefit: Post hoc analyses and society statements suggest possible benefit of PGT-A in selected groups (e.g., patients aged 35-40 for frozen-thawed ET outcomes), but benefits were not consistent on intention-to-treat analysis.

PGT-P (polygenic) stance: Evidence for utility of PGT-P for embryo selection is lacking; major genetics organizations (ACMG) recommend restricting PGT-P to research settings and advise against routine clinical use due to limited utility and ethical concerns.

Mosaic embryo management:

Covered Indications (summary)

Covered when ALL of the following are met

Coverage limited to specified PGT indications and technologies: Preimplantation Genetic Testing (PGT) is proven and medically necessary only for monogenic/single-gene defects (PGT-M) or inherited structural chromosome rearrangements (PGT-SR) when performed using polymerase chain reaction, next-generation sequencing, or chromosomal microarray for the listed indications.

Medical record documentation supporting medical necessity may be required and must be made available upon request.

Preimplantation Genetic Testing (PGT) is considered unproven and not medically necessary for all other populations and conditions outside the specified indications. The policy states PGT is proven and medically necessary only for monogenic/single‑gene defects (PGT‑M), inherited structural chromosome rearrangements (PGT‑SR), and HLA typing for sibship transplant; uses such as aneuploidy screening (PGT‑A), elective sex determination when not preventing a sex‑linked disorder, and prediction or selection based on polygenic risk scores (PGT‑P) are listed as examples of noncovered, unproven applications.

Available studies and registry reports show substantial variability in how PGT is used across clinics and patient populations, with differences in patient age, indication mix, biopsy technique, and reporting completeness. Many analyses lack standardized methods or complete data on key variables (e.g., number of embryos, biopsy type, laboratory techniques), limiting generalizability and contributing to inconsistent outcome findings.

Systematic reviews and randomized trials evaluating PGT‑A demonstrate mixed and generally low‑to‑moderate quality evidence. Meta‑analyses and RCTs have not consistently shown improved cumulative live birth rates or clear benefit across unselected IVF populations, and some analyses report reduced ongoing or clinical pregnancy rates. Consequently, the evidence does not support routine PGT‑A as standard clinical practice.

PGT‑P (polygenic risk scoring) lacks direct evidence of clinical utility for embryo selection and raises ethical and scientific concerns. Professional guideline statements and recent reviews recommend limiting use of PGT‑P to research settings and advise against routine clinical application until validated evidence and guidance are available.

Coverage under this policy is explicitly limited to the specified indications and technologies: PGT is designated as proven and medically necessary only for PGT‑M and PGT‑SR (and HLA typing where indicated) when performed using polymerase chain reaction, next‑generation sequencing, or chromosomal microarray. Other testing methods or indications are not established as covered by this policy.

Uses of PGT outside the specified indications—including but not limited to PGT‑A, PGT‑P, elective sex determination (when not preventing a sex‑linked disorder), and other nonlisted purposes—are considered not medically necessary due to insufficient evidence of efficacy.

Not all excerpts contain an explicit ‘‘not medically necessary’’ statement; however, the policy and supporting literature note the need for prospective, randomized studies and state that evidence is currently insufficient to support many expanded uses of PGT.

Routine application of PGT‑A for all IVF patients is not supported by current evidence. Several analyses indicate that PGT‑A performed with older methods (e.g., FISH) may reduce live birth rates after the first transfer, and overall trial data show uncertainty regarding improvements in cumulative live birth rates.

Professional societies emphasize that the value of universal PGT‑A screening has not been established. ASRM/SART note limitations in existing studies and call for large prospective evaluations; ESHRE recommends against routine clinical use of PGT‑A and highlights that suggested benefits in subgroups are generally based on post hoc analyses requiring further validation.

The policy explicitly discourages PGT use outside the defined indications and technologies. It clarifies that coverage is confined to PGT‑M, PGT‑SR, and HLA typing using the specified molecular methods, and that other applications are unproven and not medically necessary.

Applicable Codes and Definitions

Covered/Referenced PGT molecular assay codesCPT/HCPCS

0254U	Reproductive medicine (preimplantation genetic assessment), analysis of 24 chromosomes using embryonic DNA genomic sequence analysis for aneuploidy, and a mitochondrial DNA score in euploid embryos, results reported as normal (euploidy), monosomy, trisomy, or partial deletion/duplication, mosaicism, and segmental aneuploidy, per embryo tested.
0552U	Reproductive medicine (preimplantation genetic assessment), analysis for known genetic disorders from trophectoderm biopsy, linkage analysis of disease-causing locus, and when possible, targeted mutation analysis for known familial variant, reported as low-risk or high-risk for familial genetic disorder.
0553U	Reproductive medicine (preimplantation genetic assessment), analysis of 24 chromosomes using DNA genomic sequence analysis from embryonic trophectoderm for structural rearrangements, aneuploidy, and a mitochondrial DNA score, results reported as normal/balanced (euploidy/balanced), unbalanced structural rearrangement, monosomy, trisomy, segmental aneuploidy, or mosaic, per embryo tested.
0554U	Reproductive medicine (preimplantation genetic assessment), analysis of 24 chromosomes using DNA genomic sequence analysis from trophectoderm biopsy for aneuploidy, ploidy, a mitochondrial DNA score, and embryo quality control, results reported as normal (euploidy), monosomy, trisomy, segmental aneuploidy, triploid, haploid, or mosaic, with quality control results reported as contamination detected or inconsistent cohort when applicable, per embryo tested.

Additional referenced PGT and related service codes (Group 1)mixed

0555U	Reproductive medicine (preimplantation genetic assessment), analysis of 24 chromosomes using DNA genomic sequence analysis from embryonic trophectoderm for structural rearrangements, aneuploidy, ploidy, a mitochondrial DNA score, and embryo quality control, results reported as normal/balanced (euploidy/balanced), unbalanced structural rearrangement, monosomy, trisomy, segmental aneuploidy, triploid, haploid, or mosaic, with quality control results reported as contamination detected or inconsistent cohort when applicable, per embryo tested.
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.
89290	Biopsy, oocyte polar body or embryo blastomere, microtechnique (for pre-implantation genetic diagnosis); less than or equal to 5 embryos.
89291	Biopsy, oocyte polar body or embryo blastomere, microtechnique (for pre-implantation genetic diagnosis); greater than 5 embryos.
58970	Follicle puncture for oocyte retrieval, any method.
58974	Embryo transfer, intrauterine.
76948	Ultrasonic guidance for aspiration of ova, imaging supervision and interpretation.

Additional referenced PGT and related service codes (Group 2)CPT

89250	Culture of oocyte(s)/embryo(s), less than 4 days.
89251	Culture of oocyte(s)/embryo(s), less than 4 days; with co-culture of oocyte(s)/embryos.
89253	Assisted embryo hatching, microtechniques (any method).
89254	Oocyte identification from follicular fluid.
89255	Preparation of embryo for transfer (any method).
89257	Sperm Identification from aspiration (other than seminal fluid).
89258	Cryopreservation; embryo(s).
89260	Sperm isolation: simple prep (e.g., sperm wash and swim-up) for insemination or diagnosis with semen analysis.
89261	Sperm isolation: complex prep (e.g., Percoll gradient, albumin gradient) for insemination or diagnosis with semen analysis.
89264	Sperm identification from testis tissue, fresh or cryopreserved.

1–10 of 16

1/2

Revenue/HCPCS case-rate codesHCPCS

S4011	In vitro fertilization; including but not limited to identification and incubation of mature oocytes, fertilization with sperm, incubation of embryo(s), and subsequent visualization for determination of development.
S4015	Complete in vitro fertilization cycle, not otherwise specified, case rate.
S4016	Frozen in vitro fertilization cycle, case rate.
S4022	Assisted oocyte fertilization, case rate.
S4037	Cryopreserved embryo transfer, case rate.

No explicit CPT/HCPCS/ICD codes in these excerptsmixed

No codes listed

Significant Health Problems or Severe Disability (definition)

DefinitionA physical or mental impairment that substantially limits one or more major life activities; the impairment is expected to last at least 12 months or result in death (federal definition).

Context for coverageUsed to define the severity of the condition that PGT-M or PGT-SR is intended to prevent (i.e., the medical condition must result in Significant Health Problems or Severe Disability).

Source noteFederal Department of Labor / Office of Disability Employment Policy definition aligned with Social Security Disability benefits wording.

Number of oocytes / embryos — associations with outcomes

Association with live birth

Provider Actions, Documentation, and Authorization

Prior Authorization

Applicable codes and potential prior authorization

Applicable procedure and diagnosis codes related to preimplantation genetic testing (PGT) are listed for reference and may require verification and/or prior authorization per the member's benefit plan. Inclusion here does not guarantee coverage or payment; federal, state, or contractual requirements govern coverage. Providers should verify plan-specific prior authorization requirements before submitting requests.

Verify whether prior authorization is required under the member's benefit plan for PGT procedures and related services before scheduling or performing testing.
If prior authorization is required, include all requested documentation to demonstrate medical necessity (see Documentation and Medical Records sections).

Prior Authorization

Clinical considerations affecting authorization

Clinical indications influence authorization decisions. PGT is considered proven and medically necessary only for: monogenic/single-gene defects (PGT‑M), structural chromosome rearrangements (PGT‑SR), and HLA typing of an embryo to treat an affected sibling. PGT for other indications (including PGT‑A for routine aneuploidy screening, PGT‑P, or sex determination when not at risk for a sex‑linked disorder) is unproven and not medically necessary. Genetic counseling must be performed prior to ordering PGT.

Background and Scope

High‑level background: Preimplantation Genetic Testing (PGT) analyzes DNA from oocytes or embryos to detect genetic abnormalities and inform embryo selection. Major PGT categories include PGT‑M (monogenic/single‑gene defects), PGT‑SR (structural chromosome rearrangements), PGT‑A (aneuploidy screening), and PGT‑P (polygenic risk). The policy recognizes proven medical necessity for PGT‑M, PGT‑SR, and HLA typing under specified conditions, and notes that PGT must be ordered after genetic counseling.

Definitions

Preimplantation Genetic Testing (PGT) — definition

DefinitionPreimplantation Genetic Testing (PGT): testing of DNA from oocytes (polar bodies) or embryos (cleavage stage or blastocyst) for HLA typing or genetic abnormalities.

IncludesPGT‑A (aneuploidy), PGT‑M (monogenic/single‑gene defects), and PGT‑SR (structural rearrangements).

Specimen typesOocytes (polar bodies), cleavage‑stage embryos, or blastocysts used for analysis.

Significant Health Problems or Severe Disability — policy definition

DefinitionA physical or mental impairment substantially limiting major life activities that is expected to last at least 12 months or result in death.

Role in policyUsed to determine whether the medical condition being prevented by PGT‑M or PGT‑SR meets the severity threshold for medical necessity.

Policy Summary

PayerUnitedHealthcare

PolicyPreimplantation Genetic Testing and Related Services (for New Mexico Only)

Policy CodePolicy CS160NM.E

Change TypeClarified coverage scopeadded documentation requirementsterminology update

Effective DateMay 1, 2026

Next Review DateN/A

Key ActionVerify benefit plan requirements and ensure medical records document genetic counseling and medical necessity before prior authorization.

SourceLink

On This Page

CPR 34%, LBR 29.7% per cycle

PGT-SR effectiveness: PGT-SR can identify euploid/balanced embryos in carriers of structural rearrangements though euploid embryo proportion may be low (e.g., ~10.8% overall in pooled analyses); some cohorts report improved live birth outcomes and utility in preventing recurrent miscarriage in selected series.euploid proportion ~10.8%

Diagnostic technologies: Next-generation sequencing and chromosomal microarray show high concordance with array CGH for abnormal results and can detect segmental aneuploidy and low-level mosaicism not detected by older methods; amplification method influences downstream performance.concordance reported as high in cited studies

history of RIF or RPL

PGT-A — population-level harms/uncertainty: Systematic reviews and RCTs show inconsistent effects of PGT-A across populations, with no consistent improvement in cumulative live birth rate across all age groups and potential reductions in some pregnancy outcomes; routine use of PGT-A is not supported by current evidence.

Mosaic embryos can result in live births but have lower live birth rates and higher miscarriage rates than euploid embryos; reporting mosaicism level and comprehensive counseling are recommended, and prioritization should favor euploid embryos when possible.

PGDIS and ASRM positions cited.

Test-method and lab considerations: Trophectoderm biopsy may produce discordance with the inner cell mass leading to false positives/negatives; newer noninvasive approaches and NGS have different performance characteristics and require larger validation studies before routine adoption.

Number of oocytes collected, number of blastocysts biopsied, and number of suitable embryos to transfer are positively associated with achieving a live birth (Ben‑Nagi et al. 2019).

Magnitude of effectLikelihood of live birth increased by 14% per additional blastocyst biopsied and by 38% per suitable embryo available for transfer (Ben‑Nagi et al.).

PGT‑M pooled outcomesPooled clinical pregnancy rate after PGT‑M ~34% and live birth rate ~29.7% per cycle (Poulton et al. 2025 systematic review).

Authorization should be supported by documentation that the embryo(s) are at increased risk due to: both intended parents being carriers of the same autosomal recessive condition, at least one parent being a carrier of an autosomal dominant/sex‑linked/mitochondrial condition, or at least one parent carrying a structural chromosome rearrangement.
The condition being prevented must cause Significant Health Problems or Severe Disability and be due to a single gene (PGT‑M) or parental structural chromosomal change (PGT‑SR).

Prior Authorization

Prior authorization — counseling emphasis

Genetic counseling is strongly recommended (and required for PGT per this policy) and should be documented as part of prior authorization. Counseling should cover the test's advantages and limitations, expected utility (including limits of PGT‑A and ethical considerations for PGT‑P), parental expectations, alternatives, potential need for confirmatory prenatal diagnostic testing, and implications of mosaic or indeterminate results.

Document that pretest genetic counseling was provided and include counselor qualifications when available.
Include counseling notes addressing alternatives, limitations, and the recommendation to offer confirmatory prenatal diagnostic testing (CVS or amniocentesis) following PGT‑M or PGT‑SR results.

Note

Laboratory regulation information (informational)

Information about laboratory regulation: laboratories that perform PGT are regulated under CLIA; FDA-cleared or -approved nucleic acid tests are listed by the FDA. This regulatory information is for provider awareness and does not by itself determine coverage.

Providers may reference FDA listings for cleared/approved nucleic acid-based tests and ensure testing is performed by appropriately certified CLIA laboratories.
Regulatory status alone does not guarantee coverage — benefit plan rules apply.

Prior Authorization

Verify benefit plan requirements before authorization

Before requesting authorization, verify the member's federal, state, or contractual benefit plan requirements as these may differ from the standard policy. In the event of any conflict, the governing federal, state, or contractual requirements take precedence.

Check for state-mandated infertility or genetic testing benefits that may affect coverage or prior authorization requirements.
Confirm any plan-specific forms, timelines, or preauthorization portals required for submission.

Denial Risk

Denial for noncovered PGT indications and documentation-related denial risk

Claims for PGT for indications other than PGT‑M, PGT‑SR, or HLA typing (e.g., routine PGT‑A, PGT‑P, sex determination without risk) may be denied as not medically necessary. Lack of adequate clinical documentation to support medical necessity may also result in denial.

Denials may be issued when PGT is requested for unproven indications such as PGT‑P, routine PGT‑A without qualifying clinical indication, or elective sex selection.
Ensure submitted documentation clearly ties the requested testing to covered indications and includes genetic counseling and supporting medical history.

Note

No explicit denial triggers or step therapy requirements described

No explicit administrative 'denial triggers' beyond insufficient documentation or noncovered indications are specified in this section; there are no step therapy requirements or step therapy rules described for PGT in this policy excerpt.

Providers should note the absence of step therapy — prior authorization decisions will be based on clinical criteria and documentation.
Operational or plan-specific tools (e.g., InterQual) may still be used by UnitedHealthcare in benefit administration and could influence authorization determinations.

Documentation Required

Recommended documentation elements and medical records documentation requirements

Documentation expectations and recommended elements: the patient's medical record must fully support medical necessity and be made available on request. Provide detailed clinical records, genetic counseling notes, test reports, methodology and laboratory result details, family history, carrier testing results, and rationale linking the requested PGT to a covered indication. Reporting of study methodology, diagnostic results, and outcomes is encouraged for novel assays.

Include patient medical history, physical examination findings (when relevant), carrier or mutation test results for parents, pedigree/family history, and indication for PGT.
Attach genetic counseling documentation including topics discussed and recommendations.
Provide laboratory reports that describe methodology, assay limitations, quality control, and detailed results per embryo tested.
For novel or new assays, include nonselection study data and ongoing data collection as available to support analytic and clinical validity.

Documentation Required

Counseling and data reporting

Counseling and outcome reporting expectations: counseling should discuss limitations, alternatives, and confirmatory testing. Providers and laboratories are encouraged to report outcomes and participate in ongoing data collection for newer assays and for procedures like PGD‑HLA where collaborative data have informed practice.

Document that counseling addressed mosaicism management, the potential need for prenatal diagnostic confirmation, and possible outcomes of transplantation when HLA matching is the intent.
When possible, include outcomes data (implantation, clinical pregnancy, live birth) in case files to support medical necessity and for quality reporting.

Prior Authorization

Confirmatory testing and counseling

Confirmatory prenatal diagnostic testing (chorionic villus sampling or amniocentesis) should be offered following PGT‑M or PGT‑SR results, and traditional diagnostic testing or screening for aneuploidy should be offered to patients who have had PGT‑A in accordance with society recommendations. Document that patients were offered and counseled about confirmatory testing.

Document offer and discussion of CVS or amniocentesis following PGT‑M and PGT‑SR.
Document recommendation for standard prenatal aneuploidy screening/testing when PGT‑A was performed.

ReferenceFederal definition cited in policy definitions section.

PGT‑A / PGS — definition and context

DefinitionPGT‑A (preimplantation genetic testing for aneuploidy): testing to detect chromosomal aneuploidies in embryos (also referred to as preimplantation genetic screening).

Methods referencedMay be performed using methods such as aCGH, FISH, or NGS (policy notes variability in evidence by method).

Policy stanceEvidence insufficient to support routine use of PGT‑A across all patients; utility may vary by population and method.

PGT‑M / PGD — definition

DefinitionPGT‑M (preimplantation genetic testing for monogenic/single‑gene defects): testing to identify embryos unaffected by specific inherited single‑gene disorders.

Use caseApplied when one or both parents carry a known pathogenic single‑gene variant; may use PCR and targeted NGS approaches as described in validation studies.

Outcomes evidencePooled PGT‑M outcomes: clinical pregnancy ~34% and live birth ~29.7% per cycle (Poulton et al. 2025).

PGT‑SR — definition

DefinitionPGT‑SR (preimplantation genetic testing for structural rearrangements): testing to detect and select embryos that are euploid or balanced when a parent is a carrier of a chromosomal structural rearrangement (e.g., reciprocal translocation, complex rearrangements).

Clinical contextUsed for carriers of balanced translocations or complex chromosome rearrangements to reduce miscarriage and improve chance of normal live birth in selected cohorts.

Evidence noteProportion of euploid/balanced embryos may be low in some carrier groups; studies report variable euploid rates and improved outcomes in selected series.

PGD‑HLA — definition

DefinitionPGD‑HLA: preimplantation genetic diagnosis with human leukocyte antigen typing to identify embryos that are HLA‑compatible with an affected sibling to enable potential hematopoietic stem cell transplantation.

PurposePerformed when the future child is intended to provide bone marrow or blood to treat an affected sibling.

Diagnostic efficacyMulticenter data reported diagnostic efficacy of 78.5% and demonstrated live births and successful transplants in some cases (Kakourou et al.).

PGD‑HLA / PGD for HLA typing — definition & purpose

Definition and purposePGD for HLA typing: combined genetic diagnosis and HLA‑typing of embryos to identify HLA‑matched embryos for an affected sibling who may require hematopoietic stem cell transplant.

Clinical outcomesIn multicenter series, diagnosis was made in ~78.5% of analyzed embryos and a subset of couples proceeded to transfer and live birth, enabling subsequent transplants in some cases.

LimitationsSuccess influenced by maternal age, oocyte yield, and genetic chance; diagnostic efficacy may be lower than general PGD rates.

PGT‑A — methods (aCGH, FISH, NGS)

DefinitionPGT‑A assessment methods include comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH), and next‑generation sequencing (NGS) to evaluate embryo chromosome copy number.

Method implicationsTest performance and clinical findings vary by method and study quality; newer NGS approaches may detect segmental aneuploidy and low‑level mosaicism more effectively than older methods.

Policy relevanceMethodologic differences contribute to heterogeneity in clinical evidence for PGT‑A utility.

niPGT‑A — definition (noninvasive PGT‑A)

DefinitionniPGT‑A (noninvasive PGT‑A): assessment of embryo aneuploidy using cell‑free DNA released into embryo culture media rather than a trophectoderm biopsy.

Early study findingsIn a small investigational study, niPGT‑A showed a false‑negative rate of 0 and higher PPV and specificity versus TE biopsy when compared with embryo sequencing, but larger validation studies are required.

Potential advantageProposed to reduce errors related to embryo mosaicism and to avoid biopsy‑related risks; requires additional research for clinical adoption.

niPGT‑A — additional note

Alternative to TE biopsyniPGT‑A analyzes DNA in culture media as an alternative to trophectoderm biopsy and may be less prone to errors from mosaicism (investigational evidence).

Study resultsInvestigational comparison reported higher concordance and no false‑negative results for niPGT‑A versus TE biopsy in a small sample; authors call for larger studies.

Current statusConsidered investigational with promising early data but not established as standard practice pending further validation.

PGT‑P — definition (polygenic testing)

DefinitionPGT‑P: preimplantation genetic testing for polygenic disorders uses polygenic risk scores to estimate relative risk for complex, multi‑gene traits or diseases in embryos.

Evidence and stanceEvidence for clinical utility of PGT‑P is lacking; professional organizations recommend restricting PGT‑P to research settings due to limited utility and ethical concerns.

Ethical considerationsConcerns include limited predictive value, lack of guidance, and complex ethical implications for embryo selection based on polygenic risk.

Mosaic embryo — definition and implications

DefinitionMosaic embryo: an embryo with cells that have differing chromosomal complements (i.e., some cells euploid, others aneuploid).

Clinical impactHigher‑level mosaicism is associated with less favorable outcomes (lower live birth rates, higher miscarriage) and the percentage/level of mosaicism helps predict outcomes.

Reporting recommendationLevel/percentage of mosaicism should be reported and discussed during counseling; prioritize euploid embryos when possible.

PGT coverage scope — proven and medically necessary indications

Policy scopePGT is proven and medically necessary only for monogenic/single‑gene defects (PGT‑M) or inherited structural chromosome rearrangements (PGT‑SR).

Required methodsCovered when performed using polymerase chain reaction (PCR), next‑generation sequencing (NGS), or chromosomal microarray for the listed indications.

Exclusions impliedOther uses of PGT (e.g., routine PGT‑A, PGT‑P, elective sex determination) are not established as proven and medically necessary per this revision.