What are the considerations for Preimplantation Genetic Testing for Aneuploidy (PGTA) in individuals aged 45 and above with potential comorbidities such as hypertension, diabetes, or cardiovascular disease?

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PGTA in Individuals Aged 45 and Above: Practical Clinical Guidance

Critical Context: This Question Appears Mismatched with Available Evidence

The provided evidence does not contain guidelines or research specifically addressing Preimplantation Genetic Testing for Aneuploidy (PGTA/PGT-A) in individuals aged 45+. The only relevant genetic testing guideline addresses preimplantation genetic testing for inherited cardiac diseases, not aneuploidy screening 1. The remaining evidence focuses on diabetes screening, hypertension management, and cardiovascular disease—topics unrelated to reproductive genetics.

What the Available Evidence Actually Addresses

Preimplantation Genetic Testing for Inherited Cardiac Disease (Not Aneuploidy)

The 2024 guideline on preimplantation genetic testing applies specifically to inherited cardiac conditions and uses a scoring system to evaluate disease expression and penetrance 1. This model assesses:

  • Disease expression scoring: Points assigned for age of onset (<30 years = 2 points; 30-40 years = 1 point), device implantation, heart transplant/LVAD/myectomy, and life-threatening arrhythmias 1
  • Disease penetrance scoring: Family history weighted by degree of relationship (first-degree = 1.0, second-degree = 0.5, third-degree = 0.25) with additional points for young onset (<40 years) and sudden cardiac death (<50 years) 1
  • Decision thresholds: High expression/penetrance (≥5 points) warrants approval; low scores (<3 points) suggest rejection; intermediate scores (3-4.99 points) require multidisciplinary discussion 1

This cardiac-specific model has no applicability to aneuploidy screening in older reproductive-age individuals.

Age-Related Considerations from Transplant Medicine (Tangentially Relevant)

The liver transplant guideline notes that age alone should not be exclusionary for medical procedures in individuals 45-70+ years 1. Key principles include:

  • Physiologic age matters more than chronologic age when evaluating candidacy for complex medical interventions 1
  • Comorbidity assessment is essential: Cardiovascular function, diabetes status, and organ function should guide decision-making rather than age cutoffs 1
  • Multidisciplinary evaluation is required for individuals over 65 years to systematically assess comorbidities 1

Cardiovascular and Metabolic Comorbidities in This Age Group

For individuals 45+ with hypertension, diabetes, or cardiovascular disease:

  • Hypertension occurs twice as frequently in diabetic patients compared to non-diabetic individuals, and these conditions share common pathophysiologic mechanisms including endothelial dysfunction, vascular inflammation, and oxidative stress 2
  • Cardiovascular disease accounts for up to 75% of added risk in diabetic patients, with hypertension substantially increasing risks for coronary heart disease, stroke, retinopathy, and nephropathy 3
  • Blood pressure control to <130/80 mmHg and LDL-cholesterol lowering to <100 mg/dL have proven effective for cardiovascular risk reduction in hypertensive diabetic persons 3
  • Combination therapy with two or more drugs is usually necessary to achieve target blood pressure in this population 3

Critical Gap in Evidence

No guidelines or research evidence was provided addressing:

  • Aneuploidy screening protocols for advanced maternal or paternal age
  • IVF success rates in individuals 45+
  • PGT-A efficacy, accuracy, or clinical utility in this age group
  • Management of comorbidities during assisted reproductive technology cycles
  • Cardiovascular risk stratification for fertility treatments in older adults

Without appropriate evidence on PGTA/PGT-A specifically, evidence-based recommendations cannot be formulated for this clinical scenario.

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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