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Preimplantation Genetic Testing and Polygenic Selection

Chromosomal aneuploidy screening, single-gene disease diagnosis, and polygenic trait risk scoring in early embryo selection.

107 sources ↓Last researched 2026-10-17
Hierarchy:
Natural & Life SciencesMedicine, Health & LongevityReproductive Medicine & Human FertilityAssisted reproductionPreimplantation Genetic Testing and Polygenic SelectionNon-Invasive Preimplantation Genetic Testing (niPGT)Preimplantation Genetic Testing for Aneuploidy (PGT-A)Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)Preimplantation Genetic Testing for Polygenic Risk (PGT-P)Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)
+ Associated nodes:
Oocyte Quality, Embryo Aneuploidy, and Blastocyst Competence (intersects)
State of the Field Monograph · AI Research Synthesis7 min read · 107 sources · 24 graded findingsPeak certainty: T1

State of the Field: Preimplantation Genetic Testing and Polygenic Selection

Chromosomal aneuploidy screening, single-gene disease diagnosis, and polygenic trait risk scoring in early embryo selection. Grounded synthesis across 107 primary sources and 24 graded findings within Reproductive Medicine & Human Fertility → Assisted reproduction.

Synopsis · Executive Overview

Preimplantation genetic testing for aneuploidy (PGT-A) reliably identifies high-confidence chromosomal aneuploidies with a negative misdiagnosis rate below 1%, yet randomized controlled trials and large registry studies consistently demonstrate that PGT-A does not increase cumulative live birth rates (cLBR) per initiated cycle in the general IVF population (77.2% vs 81.8% in women aged 20-37, and 24% vs 24% in ages 36-40). The observed clinical benefits of PGT-A are largely restricted to reducing time-to-pregnancy, lowering clinical miscarriage rates (RR 0.45, 95% CI 0.25-0.80), and avoiding futile transfers, but these benefits are counterbalanced by biopsy damage risks, false-positive embryonic discards, and laboratory costs. Mosaic embryo transfers yield viable, healthy offspring with normal pediatric outcomes at 1 to 3 years, although with lower implantation rates (25-35% vs ~50-60% for euploid blastocysts). Non-invasive PGT (niPGT) utilizing cell-free DNA in spent culture media suffers from high maternal contamination and variable concordance (56-65%), resulting in inferior live birth rates compared to trophectoderm biopsy (34.5% vs 46.2%). Meanwhile, polygenic embryo screening (PGT-P) remains premature, heavily restricted in multiple jurisdictions, and opposed by major professional societies; theoretical relative risk reductions of 27% to 70% collapse to modest 1% to 5% absolute risk reductions in real-world IVF cohorts containing only 1 to 3 viable euploid embryos, compounded by a 60% loss in score predictive validity within families.

Section I · Primary Literature & Evidence Synthesis

What the Peer-Reviewed Record Establishes

The primary research record in Preimplantation Genetic Testing and Polygenic Selection is stratified by study design so that meta-analyses and replicated randomised controlled trials (T1–T2) carry greater epistemic weight than observational cohorts (T3–T4) or preclinical laboratory work (T5). Leading graded findings establish the core empirical baseline: [T1] Preimplantation genetic testing for aneuploidy (PGT-A) using trophectoderm biopsy is a highly reliable screening tool with an 89.2% positive predictive value for aneuploidy and a misdiagnosis rate of less than 1% for euploid embryos across 109 studies. [19][106] [T1] Real-world evidence from 134,373 live births across 7 studies and reviews of 6 RCTs show that PGT-A efficacy is artifactually dictated by denominator selection, favoring PGT-A per embryo transfer but favoring controls per cycle initiated or oocyte retrieval. [12][31]

Further clinical and mechanistic stratification across the literature demonstrates: [T1] Elective frozen embryo transfer significantly increases live-birth rates compared with fresh embryo transfer in PGT-A cycles (risk ratio 1.55, 95% CI 1.14 to 2.10). [95] [T1] Routine preimplantation genetic testing for aneuploidy (PGT-A) in advanced maternal age IVF patients results in live birth rates similar to no testing based on a meta-analysis of 151 studies. [27]

Section II · Mechanisms, Interventions & Subgroup Calibration

Comparative Evaluation of Levers & Theoretical Models

When evaluated as a quantitative decision and mechanism ledger, the best-supported interventions and frameworks in Preimplantation Genetic Testing and Polygenic Selection are: PGT-A for Advanced Maternal Age (>=35 years) (Targeted — Transfer LBR increased (RR 1.29, 95% CI 1.05-1.60); miscarriage reduced (RR 0.45); cumulative LBR per retrieval unchanged; landmark evidence: Meta-analysis of 11 RCTs (n=1,513) & retrospective registry data (134,373 live births): Shortens time to pregnancy and significantly lowers miscarriage incidence, but does not generate new euploid embryos or improve cumulative delivery per cycle.); Mosaic Embryo Transfer Protocol (Supported — Implantation/LBR 25-35% vs 50-60% euploid; normal pediatric and cognitive development at 1-3 years; landmark evidence: Multicenter cohort studies (2021-2026, >3,000 transfers) & pediatric follow-ups: Viable strategy for poor responders; parental haplotype trace analysis indicates over 50% of laboratory mosaic calls are technical noise or euploid variants.); Modified Natural Cycle FET for Euploid Blastocysts (Supported — LBR 45.7% vs 40.7%; clinical miscarriage 10.0% vs 16.2% favoring modified natural cycle; landmark evidence: Large cohort study of 3,507 single euploid blastocyst transfers (2026): Presence of a corpus luteum provides endogenous endocrine support (relaxin, vascular factors), mitigating preeclampsia and miscarriage risks.).

By contrast, interventions and hypotheses that remain experimental, subgroup-restricted, or unsupported by randomised endpoints include: Routine PGT-A in Good-Prognosis / Young Patients (<35 years) (Not supported — cLBR 77.2% (PGT-A) vs 81.8% (conventional IVF), noninferiority confirmed for unbiopsied IVF; Causes unnecessary financial burden and risks embryonic loss or false discard in women whose baseline aneuploidy risk is already low.); Non-Invasive PGT (niPGT-A) via Culture Media cfDNA (Trial only — LBR 34.5% vs 46.2% for biopsy PGT-A; concordance rates 56-65% due to maternal cumulus DNA contamination; Lacks the diagnostic sensitivity and specificity required for primary clinical decisions; cannot yet replace trophectoderm biopsy.).

Within the Tree of Knowledge, this field branches into 5 specialised sub-disciplines: Non-Invasive Preimplantation Genetic Testing (niPGT) (Analysis of cell-free DNA (cfDNA) in spent embryo culture media to assess genetic status without invasive biopsy); Preimplantation Genetic Testing for Aneuploidy (PGT-A) (Screening for whole or segmental chromosomal gains and losses to improve live birth rates and reduce miscarriage); Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) (Targeted diagnosis of specific Mendelian traits and single-gene mutations in embryos at risk of inherited conditions); Preimplantation Genetic Testing for Polygenic Risk (PGT-P) (Application of polygenic risk scores (PRS) to estimate the likelihood of complex multi-factorial diseases like diabetes or heart disease); Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) (Identification of embryos with unbalanced chromosomal translocations, inversions, or deletions in carriers of structural abnormalities).

Section III · Historical Trajectory & Contested Frontiers

Evolution of the Field, Open Debates & Active Trials

Chronologically, the field evolved through key inflection points: in 2019, First clinical case of polygenic risk scoring in human preimplantation embryos (Treff and colleagues report the first clinical application of polygenic embryo screening (PGT-P) in human embryos from couples with a family history of complex disease); in 2025, First healthy euploid twin birth from nonmosaic aneuploid embryos (A case report documented the first birth of healthy euploid dizygotic twins following the transfer of three embryos screened as nonmosaic aneuploid by PGT-A).

Active scientific debates and unresolved methodological tensions centre on: Contradiction between laboratory diagnostic accuracy (per-transfer live birth advantage driven by deselection) and clinical trial outcomes showing no cumulative live birth rate benefit per initiated cycle across broad populations. (contradiction) Commercial marketing of polygenic risk scoring (PGT-P) promises massive 40-70% disease reductions based on between-family models, whereas within-family genetics and real-world embryo availability cap absolute benefits at 1-5%. (commercial hype) Non-invasive PGT is marketed as a patient-friendly alternative, but current evidence demonstrates high maternal contamination, low diagnostic concordance (56-65%), and significantly lower live birth rates than standard biopsy. (weak evidence)

Section IV · Evidentiary Gaps & Research Frontiers

Open Questions & Priorities for the Next Research Sweep

Methodological priorities and open empirical questions queued for the next research sweep across Preimplantation Genetic Testing and Polygenic Selection focus on resolving subgroup effect sizes, causal mechanisms, and long-term outcomes:

  • Long-term neurodevelopmental and epigenetic health outcomes of children born following trophectoderm biopsy versus unbiopsied blastocysts beyond early childhood.
  • True natural self-correction mechanisms in human mosaic and aneuploid blastocysts transitioning from trophectoderm to inner cell mass.
  • Validated clinical utility, absolute disease incidence reduction, and pleiotropic trade-offs of polygenic risk score selection within sibling embryo cohorts.
  • Standardized diagnostic thresholds and culture media handling to overcome maternal DNA contamination in non-invasive preimplantation genetic testing (niPGT).
  • Ongoing multi-center RCTs evaluating non-invasive PGT-A (niPGT-A) protocols using optimized washing techniques to eliminate maternal cell contamination.
  • Five- and ten-year longitudinal health and epigenetic registries of children born from mosaic blastocyst transfers.

Evidence Hierarchy (Graded Claims)

  • T1Synthesis of trials
    12 (50%)
  • T2Randomised trial
    0 (0%)
  • T3Observational, large
    7 (29%)
  • T4Observational, small or case-based
    3 (13%)
  • T5Preclinical or mechanistic
    1 (4%)
  • T6Opinion, news or unverified
    1 (4%)
7 settled13 debated4 contested / frontier

Study Designs in Indexed Literature

  • Meta-analyses, Systematic Reviews & Guidelines22 (21%)
  • Randomised Controlled Trials (RCTs)8 (7%)
  • Prospective Cohorts & Clinical Registries21 (20%)
  • Observational & Clinical Case Series4 (4%)
  • Preclinical, Cellular & Computational Models5 (5%)
  • Primary Literature & Archive Records47 (44%)

Publication Timeline Velocity

Fig. 1 — Field Evidence Architecture & Publication Trajectory. Distribution of methodological study designs (107 indexed publications) and 24 extracted claims graded from T1 (meta-analyses and guidelines) to T6.

Epistemic Verdict Distribution Across Evaluated Levers & Mechanisms (6)

Targeted1 lever (17%)
Not supported1 lever (17%)
Supported2 levers (33%)
Trial only1 lever (17%)
Guideline1 lever (17%)
Fig. 2 — Intervention & Mechanism Epistemic Calibration. Proportion of evaluated clinical interventions or theoretical models supported by replicated trials versus subgroup-specific or experimental evidence.
Primary Citations & Landmark Studies

Key Studies Anchoring This Monograph

Synthesis & Conclusions

State of the Field Conclusions

Taken together, the evidence record in Preimplantation Genetic Testing and Polygenic Selection (107 primary sources, 24 graded claims, highest certainty T1 — Synthesis of trials) separates replicated high-tier findings from early-stage hypotheses. The most robust actionable levers supported by current evidence are PGT-A for Advanced Maternal Age (>=35 years) (Transfer LBR increased (RR 1.29, 95% CI 1.05-1.60); miscarriage reduced (RR 0.45); cumulative LBR per retrieval unchanged), Mosaic Embryo Transfer Protocol (Implantation/LBR 25-35% vs 50-60% euploid; normal pediatric and cognitive development at 1-3 years), Modified Natural Cycle FET for Euploid Blastocysts (LBR 45.7% vs 40.7%; clinical miscarriage 10.0% vs 16.2% favoring modified natural cycle). The 7 open research priorities detailed above guide the next autonomous literature and clinical trial sweep.

Key Quantitative Takeaways

  • 0% difference: Cumulative live birth rate difference per initiated cycle with PGT-A in non-selected IVF populations (Yan et al. 2021 (NEJM, 1,212 patients); ESTEEM trial (Hum Reprod 2018)).
  • RR 0.45: Relative risk of clinical miscarriage after euploid blastocyst transfer versus unscreened transfer (Cornelisse et al. 2021 Cochrane / Meta-analysis (95% CI 0.25-0.80)).
  • PGT-A for Advanced Maternal Age (>=35 years) [Targeted]: Transfer LBR increased (RR 1.29, 95% CI 1.05-1.60); miscarriage reduced (RR 0.45); cumulative LBR per retrieval unchanged — Shortens time to pregnancy and significantly lowers miscarriage incidence, but does not generate new euploid embryos or improve cumulative delivery per cycle.
  • Routine PGT-A in Good-Prognosis / Young Patients (<35 years) [Not supported]: cLBR 77.2% (PGT-A) vs 81.8% (conventional IVF), noninferiority confirmed for unbiopsied IVF — Causes unnecessary financial burden and risks embryonic loss or false discard in women whose baseline aneuploidy risk is already low.
  • Open frontier in Preimplantation Genetic Testing and Polygenic Selection: Long-term neurodevelopmental and epigenetic health outcomes of children born following trophectoderm biopsy versus unbiopsied blastocysts beyond early childhood.
0% difference

Cumulative live birth rate difference per initiated cycle with PGT-A in non-selected IVF populations

Yan et al. 2021 (NEJM, 1,212 patients); ESTEEM trial (Hum Reprod 2018)

RR 0.45

Relative risk of clinical miscarriage after euploid blastocyst transfer versus unscreened transfer

Cornelisse et al. 2021 Cochrane / Meta-analysis (95% CI 0.25-0.80)

1% to 5%

Real-world absolute disease risk reduction achieved per cycle with polygenic embryo screening

Widen et al. 2026; Turley et al. 2021

60%

Average predictive power attenuation of polygenic risk scores within families compared to between-family predictions

Kong et al. 2018; Selzam et al. 2019

Where each lever applies

A graded decision ledger of interventions across clinical subgroups. Each row names its best landmark evidence, measured effect, clinical reading, and epistemic verdict.

Supported: RCT live-birth gainTargeted: specific subgroupGuideline: clinical consensusWeak: inconsistent/unproven gainNot supported: RCTs show no gainTrial: human trial in progressLab: preclinical / cell dish

Embryo Chromosomal Screening

Lever & MechanismBest Landmark EvidenceMeasured Effect & Clinical ReadingVerdict
PGT-A for Advanced Maternal Age (>=35 years)

Trophectoderm biopsy at day 5/6 followed by next-generation sequencing to prioritize euploid blastocysts for transfer.

Meta-analysis of 11 RCTs (n=1,513) & retrospective registry data (134,373 live births)

Effect: Transfer LBR increased (RR 1.29, 95% CI 1.05-1.60); miscarriage reduced (RR 0.45); cumulative LBR per retrieval unchanged

Clinical reading: Shortens time to pregnancy and significantly lowers miscarriage incidence, but does not generate new euploid embryos or improve cumulative delivery per cycle.

Targeted
Routine PGT-A in Good-Prognosis / Young Patients (<35 years)

Universal trophectoderm biopsy and chromosomal screening in patients with normal ovarian reserve.

Yan et al. 2021 NEJM RCT (n=1,212 subfertile women, 20-37 yrs with >=3 blastocysts)

Effect: cLBR 77.2% (PGT-A) vs 81.8% (conventional IVF), noninferiority confirmed for unbiopsied IVF

Clinical reading: Causes unnecessary financial burden and risks embryonic loss or false discard in women whose baseline aneuploidy risk is already low.

Not supported
Non-Invasive PGT (niPGT-A) via Culture Media cfDNA

Sequencing cell-free DNA released into the spent embryo culture droplet to avoid invasive micromanipulation.

Comparative cohort study (n=6,215, 2026) and concordance meta-analyses

Effect: LBR 34.5% vs 46.2% for biopsy PGT-A; concordance rates 56-65% due to maternal cumulus DNA contamination

Clinical reading: Lacks the diagnostic sensitivity and specificity required for primary clinical decisions; cannot yet replace trophectoderm biopsy.

Trial only

Embryo Selection & Utilization

Lever & MechanismBest Landmark EvidenceMeasured Effect & Clinical ReadingVerdict
Mosaic Embryo Transfer Protocol

Transferring low- or high-level trophectoderm mosaic embryos when no euploid blastocysts are available.

Multicenter cohort studies (2021-2026, >3,000 transfers) & pediatric follow-ups

Effect: Implantation/LBR 25-35% vs 50-60% euploid; normal pediatric and cognitive development at 1-3 years

Clinical reading: Viable strategy for poor responders; parental haplotype trace analysis indicates over 50% of laboratory mosaic calls are technical noise or euploid variants.

Supported

Preparation & Transfer

Lever & MechanismBest Landmark EvidenceMeasured Effect & Clinical ReadingVerdict
Modified Natural Cycle FET for Euploid Blastocysts

Transferring vitrified-warmed euploid embryos during an ovulatory natural/modified natural cycle instead of programmed HRT.

Large cohort study of 3,507 single euploid blastocyst transfers (2026)

Effect: LBR 45.7% vs 40.7%; clinical miscarriage 10.0% vs 16.2% favoring modified natural cycle

Clinical reading: Presence of a corpus luteum provides endogenous endocrine support (relaxin, vascular factors), mitigating preeclampsia and miscarriage risks.

Supported

Polygenic Scoring & Prioritization

Lever & MechanismBest Landmark EvidenceMeasured Effect & Clinical ReadingVerdict
Polygenic Embryo Selection (PGT-P / PES)

Ranking euploid embryos by genome-wide polygenic risk scores for adult-onset multifactorial conditions.

Real-world simulation cohorts (n=4,452, 2026) and ESHRE/ASRM guideline statements

Effect: Real-world disease risk reduction 1-5% per cycle; PRS predictive power decreases ~60% within sibships

Clinical reading: Commercial offerings dramatically outpace clinical evidence. Small cohort sizes (often 1-2 euploid embryos) prevent meaningful selection, with substantial pleiotropic risk.

Guideline

Questions for specialist consultations

High-yield clinical and laboratory inquiries directly derived from the evidence record.

  1. Does the clinic report PGT-A outcomes per embryo transfer, per oocyte retrieval, or as cumulative live birth per initiated cycle?
  2. What is the clinic's specific threshold for calling mosaicism, and what is the institutional protocol and genetic counseling pathway for transferring low-level mosaic embryos?
  3. Does the clinic offer natural-cycle or modified natural-cycle endometrial preparation for euploid frozen embryo transfers in ovulatory patients?
  4. What is the laboratory's documented biopsy damage and non-informative/amplification failure rate across blastocyst biopsies?

Queued for next research sweep

Frontier clinical trials, emerging biology, and targeted subgroup outcomes tracked by the autonomous research worker.

  • Ongoing multi-center RCTs evaluating non-invasive PGT-A (niPGT-A) protocols using optimized washing techniques to eliminate maternal cell contamination.
  • Five- and ten-year longitudinal health and epigenetic registries of children born from mosaic blastocyst transfers.
  • Empirical clinical trials comparing live birth outcomes and adverse pleiotropy in polygenic score prioritized embryo transfers.
Historical timeline (2 milestones, 2019–2025)
  1. 2019

    First clinical case of polygenic risk scoring in human preimplantation embryos

    Treff and colleagues report the first clinical application of polygenic embryo screening (PGT-P) in human embryos from couples with a family history of complex disease.

  2. 2025

    First healthy euploid twin birth from nonmosaic aneuploid embryos

    A case report documented the first birth of healthy euploid dizygotic twins following the transfer of three embryos screened as nonmosaic aneuploid by PGT-A.

Evidence by study design (24 findings across T1–T6)

Strongest support first. The bar beside each finding shows its grade.

Synthesis of trials

  1. #1 Preimplantation genetic testing for aneuploidy (PGT-A) using trophectoderm biopsy is a highly reliable screening tool with an 89.2% positive predictive value for aneuploidy and a misdiagnosis rate of less than 1% for euploid embryos across 109 studies.

    DebatedA systematic review and meta-analysis of the diagnostic accuracy aft… (2025); Single embryo transfer and IVF/ICSI outcome: a balanced appraisal (2004)

    PGT-A is the current standard for identifying euploid embryos to maximize implantation and support single embryo transfer strategies.

  2. #2 Real-world evidence from 134,373 live births across 7 studies and reviews of 6 RCTs show that PGT-A efficacy is artifactually dictated by denominator selection, favoring PGT-A per embryo transfer but favoring controls per cycle initiated or oocyte retrieval.

    Real-world evidence shows no consensus on PGT-A effectiveness depend… (2026); From innovation to practice: evaluating the evidence for preimplanta… (2025)

    Routine clinical adoption of PGT-A lacks consistent proof of improving cumulative live birth rates per started IVF cycle.

  3. #3 Elective frozen embryo transfer significantly increases live-birth rates compared with fresh embryo transfer in PGT-A cycles (risk ratio 1.55, 95% CI 1.14 to 2.10).

    DebatedFresh versus elective frozen embryo transfer in IVF/ICSI cycles: a s… (2019)

    PGT-A workflows typically require cryopreservation while awaiting biopsy results, making frozen embryo transfer protocol optimization critical to outcomes.

  4. #4 Routine preimplantation genetic testing for aneuploidy (PGT-A) in advanced maternal age IVF patients results in live birth rates similar to no testing based on a meta-analysis of 151 studies.

    ContestedA meta-analysis and systematic review of advanced maternal age patie… (2025)

    Demonstrates that invasive aneuploidy screening does not significantly improve live birth outcomes for older women undergoing IVF.

  5. #5 Meta-analysis of 11 randomized controlled trials indicates that PGT-A does not improve live-birth rates per patient in the general IVF population (RR 1.11, 95% CI 0.87-1.42, n=1513), but lowers miscarriage rates (RR 0.45, 95% CI 0.25-0.80) and increases live-birth rates strictly in women over 35 years old (RR 1.29, 95% CI 1.05-1.60) and when biopsied at blastocyst stage (day 5).

    DebatedPGT-A: who and when? Α systematic review and network meta-analysis o… (2021)

    Shows that clinical benefits of PGT-A are subgroup-specific, depending on maternal age and biopsy timing rather than broadly applicable to all patients.

  6. #6 The clinical application of polygenic risk scores (PRS) for embryo selection is currently advised against by professional guidelines due to limited data on clinical utility and unresolved ethical concerns.

    Marketed ahead of evidenceClinical utility of polygenic risk scores for embryo selection: A po… (2024); Screening embryos for polygenic disease risk: a review of epidemiolo… (2024); Polygenic risk score for embryo selection—not ready for prime time (2022); The use of polygenic risk scores in pre-implantation genetic testing… (2021); and 1 more

    PRS testing is marketed to patients despite a lack of evidence that it effectively improves long-term health outcomes in offspring.

  7. #7 Ethical and legal reviews indicate that polygenic embryo screening faces severe regulatory restrictions in major European jurisdictions and raises unverified clinical utility, informed consent, and eugenics concerns.

    ContestedEthical and social implications of implementing polygenic embryo scr… (2026); Polygenic embryo screening, donor selection and the ethics of neurod… (2025); Ready for polygenic risk scores? An analysis of regulation of preimp… (2024)

    Polygenic trait and disease selection in embryos remains ethically controversial and lacks clear regulatory allowance across multiple international health frameworks.

  8. #8 Mosaic embryos have significantly lower implantation and live birth rates compared to euploid embryos, although neonatal outcomes for successful pregnancies are generally favorable and comparable to euploid births.

    DebatedPregnancy Outcomes and Postnatal Health From Transferred Mosaic Embr… (2026); A systematic review and meta-analysis of the diagnostic accuracy aft… (2025); Live birth and other reproductive outcomes of mosaic and euploid emb… (2025); Healthy Live Births after the Transfer of Mosaic Embryos: Self-Corre… (2023); and 1 more

    While mosaicism reduces the chance of pregnancy, implanted mosaic embryos often result in healthy births, leading to ongoing debate over their clinical prioritization.

  9. #9 Simulating polygenic embryo screening in real-world IVF populations of 4,452 patients demonstrates modest disease risk reductions of approximately 1% to 5% per cycle, falling far short of early theoretical models predicting up to 50% relative risk reduction.

    DebatedA context-specific evaluation of polygenic embryo screening in best-… (2026); Modeling polygenic embryo screening in real-world IVF patients demon… (2026); Foretelling the Future: Preimplantation Genetic Testing and the Comi… (2025); Within- and Between-Family Validation of Nine Polygenic Risk Scores … (2025); and 2 more

    Real-world constraints such as low embryo yield, transfer failures, and within-family genetic variance severely limit the clinical efficacy of polygenic risk scoring.

  10. #10 A normal chromosomal constitution assessed by PGT-A trophectoderm biopsy exhibits a positive predictive value of only 50% to 60% for embryo implantation.

    DebatedOpening the black box: why do euploid blastocysts fail to implant? A… (2023)

    Aneuploidy screening alone fails to explain 40% to 50% of implantation failures among euploid blastocysts, highlighting biological limitations of trophectoderm screening.

  11. #11 Double trophectoderm biopsy and vitrification-warming cycles significantly reduce the pregnancy potential of blastocysts compared to single biopsy protocols.

    DebatedDouble versus single blastocyst biopsy and vitrification in preimpla… (2025)

    Raises clinical caution regarding embryo damage incurred when re-testing blastocysts.

  12. #12 Non-invasive preimplantation genetic testing (niPGT-A) using cell-free DNA from culture media is less intrusive than biopsy but currently exhibits variable concordance rates (56% to 65%) and faces technical challenges like maternal DNA contamination.

    DebatedCorrelation Of Clinical Outcomes After Transfer Of Good-Quality Morp… (2026); PREIMPLANTATION EMBRYO DIAGNOSIS-FROM INVASIVE TROPHOBLAST BIOPSY TO… (2026); Evaluation of the Effectiveness and Accuracy of Non-Invasive Preimpl… (2025); Role of Non-invasive Preimplantation Genetic Testing-Aneuploidy Usin… (2025); and 2 more

    niPGT-A is a promising alternative to invasive biopsy but lacks the standardized accuracy required for widespread clinical replacement.

Observational, large

  1. #13 In a randomized controlled trial of 396 women aged 36-40 years, preimplantation genetic testing for aneuploidy (PGT-A) via polar body comprehensive chromosome screening did not substantially increase 1-year cumulative live birth rate compared to ICSI without screening (24% vs 24%).

    DebatedPreimplantation genetic testing for aneuploidy by microarray analysi… (2018)

    Polar body aCGH testing did not demonstrate clinical efficacy for cumulative live birth rate in patients with advanced maternal age.

  2. #14 Parental haplotype trace analysis of genetic origin reclassifies over 50% of mosaic embryos detected during PGT-A as euploid, reducing false-positive diagnoses across 9,062 samples.

    Parental and cell-division origin analysis to reduce false-positives… (2025)

    Provides a molecular approach to resolve diagnostic uncertainty and lower false-positive mosaicism calls in PGT-A.

  3. #15 In subfertile women aged 20 to 37 years with three or more good-quality blastocysts, preimplantation genetic testing for aneuploidy (PGT-A) did not improve cumulative live-birth rates compared to conventional IVF (77.2% vs 81.8%), demonstrating noninferiority of conventional IVF.

    Live Birth with or without Preimplantation Genetic Testing for Aneup… (2021)

    It challenges the routine adoption of PGT-A for improving live birth rates in good-prognosis IVF patients, despite reducing pregnancy loss rates (8.7% vs 12.6%).

  4. #16 Biopsy-based preimplantation genetic testing for aneuploidy achieves significantly higher live birth rates (46.2% vs 34.5%) and clinical pregnancy rates compared to non-invasive preimplantation genetic testing using cell-free DNA in a retrospective cohort of 6,215 patients.

    Comparative clinical and reproductive outcomes following non-invasiv… (2026)

    Biopsy-based PGT-A remains clinically superior in diagnostic performance and live birth outcomes compared to non-invasive approaches.

  5. #17 In 3,507 single euploid blastocyst transfers, modified natural cycle endometrial preparation yielded higher live birth rates (45.7% vs 40.7%) and lower miscarriage rates (10.0% vs 16.2%) compared to hormone replacement therapy.

    DebatedComparing endometrial preparation protocols and clinical outcomes: l… (2026)

    Optimizing endometrial preparation protocol improves reproductive outcomes following euploid embryo transfer.

  6. #18 Between-family polygenic score prediction estimates for cognitive traits are on average 60% higher than within-family predictions, driven largely by parental socio-economic status and genotype-environment correlations.

    DebatedComparing Within- and Between-Family Polygenic Score Prediction (2019)

    Embryo selection for polygenic traits operates strictly within families between siblings, where GWAS-derived effect sizes from unrelated populations are substantially diminished.

  7. #19 In a retrospective cohort study of 1,073 couples with unexplained recurrent pregnancy loss, PGT-A failed to increase cumulative live birth rates regardless of whether 1-3, 4-6, or 7+ blastocysts were available.

    How Many Blastocysts Are Needed for PGT-A to Benefit RPL Patients? A… (2025)

    PGT-A adds cost and procedure burden without improving overall live birth outcomes in unexplained recurrent pregnancy loss populations.

Observational, small or case-based

  1. #20 The birth of healthy euploid twins from embryos diagnosed as nonmosaic aneuploid demonstrates that PGT-A can produce false positives, potentially due to embryonic self-correction or trophectoderm sampling limitations.

    ContestedHealthy euploid dizygotic twin birth after transfer of nonmosaic ane… (2025)

    This case report provides proof-of-concept that aneuploid-screened embryos can lead to normal births, challenging the absolute discard of such embryos.

  2. #21 Survey data from 673 US residents indicate 54% view preimplantation genetic testing for polygenic risk (PGT-P) as ethical, despite lingering scientific concerns regarding premature clinical translation.

    DebatedPreimplantation genetic testing to determine polygenic disease risk:… (2026); Polygenic Embryo Risk Scores: A Survey of Public Perception (2025)

    Public acceptance of polygenic trait scoring in embryos is high, but clinical validation and ethical boundary definitions remain incomplete.

  3. #22 Polygenic embryo selection faces clinical uncertainty due to gene-environment interactions as well as ethical concerns regarding child objectification, trait-based stigma, and parental expectations.

    DebatedPrecautions for polygenic embryo selection: prohibition or cautious … (2026); Patient Perspectives on Psychiatric Polygenic Risk Scores in Reprodu… (2026)

    Reflects widespread bioethical debate and varied patient perspectives on selecting human embryos for complex polygenic traits.

Preclinical or mechanistic

  1. #23 Universal preimplantation genetic testing platforms can concurrently evaluate chromosomal aneuploidy, structural rearrangements, monogenic variants, and polygenic risk scores (AUC 0.71 for hypothyroidism, 0.68 for type 1 diabetes) with 97% to >99% analytical accuracy on control samples.

    Validation of concurrent preimplantation genetic testing for polygen… (2019)

    Validates the technological feasibility of simultaneous genome-wide profiling and multi-disease risk assessment from embryo-derived DNA.

Opinion, news or unverified

  1. #24 Technological adoption of whole genome amplification followed by next-generation sequencing or SNP arrays has enabled concurrent testing of monogenic disorders (PGT-M) and aneuploidy (PGT-A) in single workflows.

    Preimplantation Genetic Testing for Monogenic Disorders (2020)

    Multiplexing PGT-M, PGT-SR, and PGT-A reduces laboratory turnaround time and preclinical setup while increasing the volume of actionable preimplantation genomic data.

Where the record disagrees (3 controversies)

  • Contradiction between laboratory diagnostic accuracy (per-transfer live birth advantage driven by deselection) and clinical trial outcomes showing no cumulative live birth rate benefit per initiated cycle across broad populations.

    Findings #1, #2, #4, #5, #15

  • Commercial marketing of polygenic risk scoring (PGT-P) promises massive 40-70% disease reductions based on between-family models, whereas within-family genetics and real-world embryo availability cap absolute benefits at 1-5%.

    Findings #6, #9, #18, #22

  • Non-invasive PGT is marketed as a patient-friendly alternative, but current evidence demonstrates high maternal contamination, low diagnostic concordance (56-65%), and significantly lower live birth rates than standard biopsy.

    Findings #12, #16

Node lineage & crossover disciplines

Parent lineage, active node, direct child sub-branches, and associated crossover disciplines across the Tree of Knowledge.

Hierarchy:
Natural & Life SciencesMedicine, Health & LongevityReproductive Medicine & Human FertilityAssisted reproductionPreimplantation Genetic Testing and Polygenic SelectionNon-Invasive Preimplantation Genetic Testing (niPGT)Preimplantation Genetic Testing for Aneuploidy (PGT-A)Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)Preimplantation Genetic Testing for Polygenic Risk (PGT-P)Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)
+ Associated nodes:
Oocyte Quality, Embryo Aneuploidy, and Blastocyst Competence (intersects)

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AI Tree OrganiserExpand Preimplantation Genetic Testing and Polygenic Selection

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Primary indexed sources (107)

Primary scientific literature, systematic reviews, and clinical trial registrations indexed for this branch.

  1. Precautions for polygenic embryo selection: prohibition or cautious use — Tetsuya Ishii Frontiers in Reproductive Health, 2026, expert opinion, 1 citations · DOI: 10.3389/frph.2026.1771127
  2. Duration of progesterone exposure before frozen embryo transfer impacts live birth rates following single vitrified-thawed day 6 blastocyst transfer: a multicenter cohort study. — Cai H, Wang Z, Fang Y et al. Contraception and reproductive medicine, 2026, cohort, 1 citations · DOI: 10.1186/s40834-026-00425-3
  3. Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision-Making and Polygenic Embryo Screening. — Ginn LA, Merner AR, Trotter PM et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2026, cross sectional, 1 citations · DOI: 10.1002/ajmg.b.70011
  4. Comparative clinical and reproductive outcomes following non-invasive versus biopsy-based preimplantation genetic testing for aneuploidy: a multicentric cohort study — Divreena Talwar, Naval Navin Shah, Marcos Meseguer et al. Scientific Reports, 2026, cohort · DOI: 10.1038/s41598-026-69506-2
  5. A context-specific evaluation of polygenic embryo screening in best-prognosis preimplantation genetic testing cycles. — Wang Q, Zeng S, Chen Z et al. Human reproduction open, 2026, cohort · DOI: 10.1093/hropen/hoag078
  6. Ethical and social implications of implementing polygenic embryo screening into clinical care: A scoping review — Betty Cohn, Dorit Barlevy, Gabriel Lázaro‐Muñoz Genetics in Medicine Open, 2026, systematic review · DOI: 10.1016/j.gimo.2026.104405
  7. Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy — Lili Chen, Dehuan Huang, Jingcheng Sang et al. iNew Medicine, 2026, cohort · DOI: 10.1002/inm3.70041
  8. Modeling polygenic embryo screening in real-world IVF patients demonstrates limitations on efficacy — Liraz Klausner, Elvezia Maria Paraboschi, Francesca Mulas et al. medRxiv, 2026, computational · DOI: 10.64898/2026.04.16.26351002
  9. Preimplantation genetic testing to determine polygenic disease risk: Will we know when to stop? — Daniela Paes de Almeida Ferreira Braga, Amanda Souza Setti, Rose Marie Massaro Melamed et al. JBRA, 2026, expert opinion · DOI: 10.5935/1518-0557.20260061
  10. Global research trends in embryonic mosaicism and mosaic embryo transfer: a bibliometric and science-mapping analysis — Mustafa Akşar, Sezin Eda Karsli, Özgecan Uçyildiz Gülmez Frontiers in Medicine, 2026, systematic review · DOI: 10.3389/fmed.2026.1860968
  11. Efficacy of preimplantation genetic testing for aneuploidy in improving pregnancy outcome among couples with azoospermia: study protocol for a multicenter, randomized controlled trial — Yaqiong He, Jiaan Huang, Junhao Yan et al. Frontiers in Endocrinology, 2026, rct · DOI: 10.3389/fendo.2026.1903245
  12. Real-world evidence shows no consensus on PGT-A effectiveness depending on outcome denominator. — Franco JG, Petersen C, Vagnini LD et al. JBRA assisted reproduction, 2026, systematic review · DOI: 10.5935/1518-0557.20260056
  13. Correlation Of Clinical Outcomes After Transfer Of Good-Quality Morphology Embryos In Patients With A Favorable Prognosis And Non-Invasive Preimplantation Genetic Testing For Aneuploidy (NiPGT-A) Results Mỹ Đức Hospital, 2026, cohort
  14. PREIMPLANTATION EMBRYO DIAGNOSIS-FROM INVASIVE TROPHOBLAST BIOPSY TO ANALYSIS OF CELL-FREE DNA IN CULTURE MEDIUM — Ewa Bełc, Rafał Borecki, Klaudia Jurkowska et al. International Journal of Innovative Technologies in Social Science, 2026, expert opinion · DOI: 10.31435/ijitss.2(50).2026.5771
  15. Comparing endometrial preparation protocols and clinical outcomes: lessons learned from 3507 vitrified-warmed euploid transfers. — Pittana E, Ruffa A, Incognito GG et al. Journal of assisted reproduction and genetics, 2026, cohort · DOI: 10.1007/s10815-026-03910-5
  16. Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection — Tianrui Jing, Yanzhi Du Biochemistry and Biophysics Reports, 2026 · DOI: 10.1016/j.bbrep.2026.102532
  17. PGT-A, the theory versus the evidence: a systematic review on efficacy, safety, and cost-effectiveness. — Iwarsson E, Bergh C, Lundin K et al. Human reproduction update, 2026, systematic review · DOI: 10.1093/humupd/dmag029
  18. Evaluation of the Effectiveness and Accuracy of Non-Invasive Preimplantation Genetic Testing (niPGT) Compared to Invasive Embryo Biopsy — Charalampos Voros, Menelaos Darlas, Diamantis Athanasiou et al. Biomedicines, 2025, systematic review, 8 citations · DOI: 10.3390/biomedicines13082010
  19. A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy — Vanessa Bacal, Angela Li, Heather M. Shapiro et al. PLoS ONE, 2025, systematic review, 7 citations · DOI: 10.1371/journal.pone.0321859
  20. Role of Non-invasive Preimplantation Genetic Testing-Aneuploidy Using Spent Culture Media and its Concordance with Trophectoderm Biopsy: A Proof of Concept and Validation Study — Neeta Singh, Ankita Sethi, Lata Rani et al. Journal of Human Reproductive Sciences, 2025, cohort, 6 citations · DOI: 10.4103/jhrs.jhrs_192_24
  21. Live birth and other reproductive outcomes of mosaic and euploid embryos: a systematic review and meta-analysis. — Molin EAD, Pires GN, Lazzari VM Journal of assisted reproduction and genetics, 2025, meta analysis, 5 citations · DOI: 10.1007/s10815-025-03575-6
  22. Healthy euploid dizygotic twin birth after transfer of nonmosaic aneuploid embryos. — Tise CG, Verma K, Rivera-Cruz G et al. Fertility and sterility, 2025, case report, 5 citations · DOI: 10.1016/j.fertnstert.2025.06.033
  23. Foretelling the Future: Preimplantation Genetic Testing and the Coming of Polygenic Embryo Screening — Roman Smolarczyk, Anna Szeliga, Anna Maria Duszewska et al. Journal of Clinical Medicine, 2025, expert opinion, 5 citations · DOI: 10.3390/jcm14113885
  24. Double versus single blastocyst biopsy and vitrification in preimplantation genetic testing (PGT) cycles: protocol for a systematic review and meta-analysis of clinical and neonatal outcomes. — Vireque AA, Stolakis V, Berteli TS et al. Systematic reviews, 2025, systematic review, 4 citations · DOI: 10.1186/s13643-025-02846-8
  25. Parental and cell-division origin analysis to reduce false-positives in mosaic embryos for preimplantation genetic testing. — Zhang Q, Liu G, Xiang Y et al. Human reproduction open, 2025, cohort, 3 citations · DOI: 10.1093/hropen/hoaf075
  26. Noninvasive Preimplantation Genetic Testing in Recurrent Pregnancy Loss and Implantation Failure: Breakthrough or Overpromise? — Grzegorz Mrugacz, Aleksandra Mospinek, Joanna Głowacka et al. Cells, 2025, systematic review, 3 citations · DOI: 10.3390/cells14201591
  27. A meta-analysis and systematic review of advanced maternal age patients in IVF. — Ganer Herman H, Feferkorn I, Dahan MH et al. Human reproduction update, 2025, meta analysis, 2 citations · DOI: 10.1093/humupd/dmaf020
  28. Within- and Between-Family Validation of Nine Polygenic Risk Scores Developed in 1.5 Million Individuals: Implications for IVF, Embryo Selection, and Reduction in Lifetime Disease Risk — Stephan Cordogan, DB Starr, Nathan R. Treff et al. medRxiv, 2025, computational, 1 citations · DOI: 10.1101/2025.10.24.25338613
  29. Double trouble: the impact of repeated biopsy and vitrification on euploid blastocyst transfer outcomes — George Liperis, Kashish Sharma, Juan J Fraire-Zamora et al. Human Reproduction, 2025, expert opinion · DOI: 10.1093/humrep/deaf146
  30. Polygenic embryo screening, donor selection and the ethics of neurodiversity — Accoe, Dorian Ghent University Academic Bibliography (Ghent University), 2025, expert opinion
  31. From innovation to practice: evaluating the evidence for preimplantation genetic testing for aneuploidy. — Lensen S, Cedars MI, Mastenbroek S Fertility and sterility, 2025, systematic review · DOI: 10.1016/j.fertnstert.2025.05.152
  32. Polygenic Embryo Risk Scores: A Survey of Public Perception — Alexandra Peyser, Cailey Brogan, Lilli D. Zimmerman et al. Reproductive Medicine, 2025, cross sectional · DOI: 10.3390/reprodmed6030019
  33. How Many Blastocysts Are Needed for PGT-A to Benefit RPL Patients? A 7-Year Retrospective Cohort Study. — Liao J, Zhu S, Wang J et al. Reproductive sciences (Thousand Oaks, Calif.), 2025, cohort · DOI: 10.1007/s43032-025-01978-5
  34. Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease — Heribert Schunkert, Emanuele Di Angelantonio, Michael Inouye et al. European Heart Journal, 2024, guideline, 99 citations · DOI: 10.1093/eurheartj/ehae649
  35. Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations — Antonio Capalbo, Guido M W R de Wert, Heidi Mertes et al. Human Reproduction Update, 2024, systematic review, 54 citations · DOI: 10.1093/humupd/dmae012
  36. Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). — Grebe TA, Khushf G, Greally JM et al. Genetics in medicine : official journal of the American College of Medical Genetics, 2024, guideline, 29 citations · DOI: 10.1016/j.gim.2023.101052
  37. Ready for polygenic risk scores? An analysis of regulation of preimplantation genetic testing in European countries — Maria Siermann, Vyne van der Schoot, Eline Maria Bunnik et al. Human Reproduction, 2024, expert opinion, 15 citations · DOI: 10.1093/humrep/deae049
  38. The morphokinetic signature of human blastocysts with mosaicism and the clinical outcomes following transfer of embryos with low-level mosaicism — Yaoyu Zou, Yilun Sui, Jing Fu et al. Journal of Ovarian Research, 2024, cohort, 14 citations · DOI: 10.1186/s13048-023-01324-w
  39. Economic evaluations of assisted reproductive technologies in high-income countries: a systematic review. — Olive E, Bull C, Gordon A et al. Human reproduction (Oxford, England), 2024, systematic review, 12 citations · DOI: 10.1093/humrep/deae039
  40. Regulatory safeguards needed if preimplantation genetic testing for polygenic risk scores (PGT-P) is permitted in Singapore — Alexis Heng Boon Chin, Lee Wei Lim, Sayyed Mohamed Muhsin Journal of Medical Ethics, 2024, 10 citations · DOI: 10.1136/jme-2023-109195
  41. Polygenic embryo screening: quo vadis? — Siermann M, Vermeesch JR, Raivio T et al. Journal of assisted reproduction and genetics, 2024, 8 citations · DOI: 10.1007/s10815-024-03169-8
  42. Efficacy of endometrial receptivity testing for recurrent implantation failure in patients with euploid embryo transfers: study protocol for a randomized controlled trial. — Lu Y, Mao X, He Y et al. Trials, 2024, 5 citations · DOI: 10.1186/s13063-024-08125-6
  43. Promises and pitfalls of preimplantation genetic testing for polygenic disorders: a narrative review — Jaime A. Roura-Monllor, Zachary Walker, Joel Michael Reynolds et al. F&S Reviews, 2024, systematic review, 5 citations · DOI: 10.1016/j.xfnr.2024.100085
  44. Comparative study on pregnancy complications: PGT-A vs. IVF-ET with gender-specific outcomes — Ling Guo, Xiao Li, An-Liang Guo et al. Frontiers in Endocrinology, 2024, cohort, 4 citations · DOI: 10.3389/fendo.2024.1453083
  45. The impact of Duostim protocol on pregnancy outcomes in infertile patients: A meta-analysis comparing single and double conventional stimulation cycles. — Zeng Y, Liu W, Luo Y et al. Journal of assisted reproduction and genetics, 2024, meta analysis, 4 citations · DOI: 10.1007/s10815-024-03304-5
  46. Prenatal Ultrasound Findings and Chromosomal Outcomes of Pregnancies with Mosaic Embryo Transfer — You Mi Hong, Soo Hyun Kim, Hee Jin Park et al. Diagnostics, 2024, 4 citations · DOI: 10.3390/diagnostics14242795
  47. Correspondence on "Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)" by Grebe et al. — Widen E, Lello L, Eccles J et al. Genetics in medicine : official journal of the American College of Medical Genetics, 2024, 2 citations · DOI: 10.1016/j.gim.2024.101155
  48. Correlation of the Genetic Constitution of the Spent Blastocyst Media Igenomix, 2024, cohort
  49. Promises and pitfalls of preimplantation genetic testing for polygenic disorders — Jaime Roura, Zachary Walker, Greysha Rivera‐Cruz et al. 2024 · DOI: 10.31219/osf.io/sedwv
  50. International Pilot Study for Dual Non-invasive Assesment of Embryo Development Igenomix, 2024, cohort
  51. Clinical Utility of Polygenic Risk Scores for Embryo Selection: A Points to Consider Statement of the American College of Medical Genetics and Genomics (ACMG) — Theresa A. Grebe, George Khushf, John M. Greally et al. Obstetrical & Gynecological Survey, 2024 · DOI: 10.1097/ogx.0000000000001336
  52. Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis. — Cimadomo D, Rienzi L, Conforti A et al. Human reproduction update, 2023, meta analysis, 145 citations · DOI: 10.1093/humupd/dmad010
  53. Healthy Live Births after the Transfer of Mosaic Embryos: Self-Correction or PGT-A Overestimation? — Gerard Campos, Romualdo Sciorio, Steven Denis Fleming Genes, 2023, expert opinion, 21 citations · DOI: 10.3390/genes15010018
  54. Sibling variation in polygenic traits and DNA recombination mapping with UK Biobank and IVF family data — Louis Lello, Maximus Hsu, Erik Widén et al. Scientific Reports, 2023, 10 citations · DOI: 10.1038/s41598-023-27561-z
  55. P-725 Role of Non-Invasive Preimplantation Genetic Testing- Aneuploidy (NIPGT-A) using spent culture media (SCM) and its concordance with Trophoectoderm (TE) biopsy: A Prospective Cohort Study — Ankita Sethi, Neha Singh, Ritu Gupta et al. Human Reproduction, 2023, 3 citations · DOI: 10.1093/humrep/dead093.1045
  56. Effect of noninvasive embryo viability testing versus conventional IVF on the live birth rate in IVF/ICSI patients: a study protocol for a double-blind, multicenter, randomized controlled trial — Yanfei Cheng, Cuilian Zhang, Yun Liu et al. BMC Pregnancy and Childbirth, 2023, rct, 2 citations · DOI: 10.1186/s12884-023-05892-z
  57. O-079 Perinatal and postnatal outcomes up to the third year of life after the transfer of mosaic embryos compared with euploid embryos — R Morales Sabater, Belén Lledó, José Antonio Ortiz et al. Human Reproduction, 2023, 1 citations · DOI: 10.1093/humrep/dead093.093
  58. An Randomized Double Blind Controlled Trial of niPGT-A in Women With RPL Queen Mary Hospital, Hong Kong, 2023, rct
  59. Polygenic Embryo Screening: High Approval Despite Substantial Concerns from the U.S. Public — Rémy A. Furrer, Dorit Barlevy, Stacey Pereira et al. medRxiv, 2023 · DOI: 10.1101/2023.10.13.23297022
  60. Polygenic risk score for embryo selection—not ready for prime time — Alex Polyakov, David J. Amor, Julian Savulescu et al. Human Reproduction, 2022, expert opinion, 42 citations · DOI: 10.1093/humrep/deac159
  61. Evaluating interventions and adjuncts to optimize pregnancy outcomes in subfertile women: an overview review. — Holt-Kentwell A, Ghosh J, Devall A et al. Human reproduction update, 2022, systematic review, 33 citations · DOI: 10.1093/humupd/dmac001
  62. Polygenic Health Index, General Health, and Pleiotropy: Sibling Analysis and Disease Risk Reduction — Erik Widén, Louis Lello, Timothy G. Raben et al. Scientific Reports, 2022, 22 citations · DOI: 10.1038/s41598-022-22637-8
  63. Preimplantation Genetic Testing for Aneuploidy With Comprehensive Chromosome Screening in Patients Undergoing In Vitro Fertilization: A Systematic Review and Meta-analysis. — Cheng X, Zhang Y, Deng H et al. Obstetrics and gynecology, 2022, meta analysis, 20 citations · DOI: 10.1097/aog.0000000000004962
  64. PGT‐A: The biology and hidden failures of randomized control trials — Li Wang, Xiaohong Wang, Min Li et al. Prenatal Diagnosis, 2022, 6 citations · DOI: 10.1002/pd.6199
  65. Preimplantation Genetic Testing for Polygenic Disorders — Nathan R. Treff, Diego Marin, Laurent C. A. M. Tellier CRC Press eBooks, 2022, 1 citations · DOI: 10.1201/9781003024941-17
  66. Preimplantation Genetic Testing of Aneuploidies (PGT-A) — Daniela N. Bakalova, Darren Karl Griffin, Maria E. Póo et al. CRC Press eBooks, 2022, 1 citations · DOI: 10.1201/9781003024941-11
  67. O-278 Prenatal outcomes of mosaic embryo transfer and neonatal assessment — Manuel Viotti Human Reproduction, 2022 · DOI: 10.1093/humrep/deac106.067
  68. Live Birth with or without Preimplantation Genetic Testing for Aneuploidy — Junhao Yan, Yingying Qin, Han Zhao et al. New England Journal of Medicine, 2021, rct, 328 citations · DOI: 10.1056/nejmoa2103613
  69. Identifying individuals with high risk of Alzheimer’s disease using polygenic risk scores — Ganna Leonenko, Emily Ann Baker, Joshua O Stevenson‐Hoare et al. Nature Communications, 2021, computational, 228 citations · DOI: 10.1038/s41467-021-24082-z
  70. Problems with Using Polygenic Scores to Select Embryos — Patrick Turley, Michelle N. Meyer, Nancy Wang et al. New England Journal of Medicine, 2021, expert opinion, 187 citations · DOI: 10.1056/nejmsr2105065
  71. Polygenic risk scores in cardiovascular risk prediction: A cohort study and modelling analyses — Luanluan Sun, Lisa A M Pennells, Stephen K. Kaptoge et al. PLoS Medicine, 2021, cohort, 161 citations · DOI: 10.1371/journal.pmed.1003498
  72. Polygenic scores: prediction versus explanation — Robert J. Plomin, Sophie von Stumm Molecular Psychiatry, 2021, expert opinion, 121 citations · DOI: 10.1038/s41380-021-01348-y
  73. Implementation and implications for polygenic risk scores in healthcare — John L. Slunecka, Matthijs D. van der Zee, Jeffrey J. Beck et al. Human Genomics, 2021, expert opinion, 111 citations · DOI: 10.1186/s40246-021-00339-y
  74. The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice — Francesca Forzano, Olga Antonova, Angus John Clarke et al. European Journal of Human Genetics, 2021, expert opinion, 94 citations · DOI: 10.1038/s41431-021-01000-x
  75. PGT-A: who and when? Α systematic review and network meta-analysis of RCTs. — Simopoulou M, Sfakianoudis K, Maziotis E et al. Journal of assisted reproduction and genetics, 2021, meta analysis, 87 citations · DOI: 10.1007/s10815-021-02227-9
  76. Cell-free DNA in spent culture medium effectively reflects the chromosomal status of embryos following culturing beyond implantation compared to trophectoderm biopsy — Akihiro Shitara, Kazumasa Takahashi, Mayumi Goto et al. PLoS ONE, 2021, cohort, 55 citations · DOI: 10.1371/journal.pone.0246438
  77. Pregnancy and Neonatal Outcomes after Transfer of Mosaic Embryos: A Review — Sina Abhari, Jennifer Fay Kawwass Journal of Clinical Medicine, 2021, expert opinion, 48 citations · DOI: 10.3390/jcm10071369
  78. Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations — Laurent C. A. M. Tellier, Jennifer Eccles, Nathan R. Treff et al. Genes, 2021, expert opinion, 30 citations · DOI: 10.3390/genes12081105
  79. Different Strategies of Preimplantation Genetic Testing for Aneuploidies in Women of Advanced Maternal Age: A Systematic Review and Meta-Analysis. — Shi WH, Jiang ZR, Zhou ZY et al. Journal of clinical medicine, 2021, 13 citations · DOI: 10.3390/jcm10173895
  80. O-201 Prenatal and postnatal outcome of mosaic embryo transfers: multicentric study of one thousand mosaic embryos diagnosed by preimplantation genetic testing with trophectoderm biopsy — Francesca Spinella, A Victor, Frank L. Barnes et al. Human Reproduction, 2021, 1 citations · DOI: 10.1093/humrep/deab128.012
  81. P–564 Analysis of efficiency and outcomes of assisted reproductive technology (ART) programs after embryo transfer with a low-level of mosaicism — М.С. Шишиморова, С.И. Тевкин, Tamara Jussubaliyeva Human Reproduction, 2021, 1 citations · DOI: 10.1093/humrep/deab130.563
  82. Non-invasive Preimplantation Genetic Testing for Aneuploidies Using Cell-free DNA in Spent Culture Media ART Fertility Clinics LLC, 2021, cohort
  83. RCT of niPGT for Aneuploidy and Morphology Compared With Morphology Alone in IVF The University of Hong Kong, 2021, rct
  84. Preimplantation Genetic Testing for Monogenic Disorders — Martine De Rycke, Veerle Berckmoes Genes, 2020, expert opinion, 140 citations · DOI: 10.3390/genes11080871
  85. PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing — Martine De Rycke, Veerle Berckmoes, Anick De Vos et al. Reproduction, 2020, expert opinion, 34 citations · DOI: 10.1530/rep-20-0082
  86. Diagnostic efficiency of blastocyst culture medium in noninvasive preimplantation genetic testing — Jingbo Chen, Lei Jia, Tingting Li et al. F&S Reports, 2020, in vitro, 33 citations · DOI: 10.1016/j.xfre.2020.09.004
  87. PREIMPLANTATION GENETIC TESTING: Preimplantation genetic testing for polygenic disease risk — Nathan R. Treff, Diego Marin, Louis Lello et al. Reproduction, 2020, 27 citations · DOI: 10.1530/rep-20-0071
  88. Clinical outcomes of Preimplantation genetic testing (PGT) application in couples with chromosomal inversion, a study in the Chinese Han population. — Shao Y, Li J, Lu J et al. Reproductive biology and endocrinology : RB&E, 2020, 23 citations · DOI: 10.1186/s12958-020-00635-7
  89. Preimplantation genetic testing for aneuploidy: are we examining the correct outcomes? — Kemper JM, Wang R, Rolnik DL et al. Human reproduction (Oxford, England), 2020, 19 citations · DOI: 10.1093/humrep/deaa224
  90. Prednisone for patients with recurrent implantation failure: study protocol for a double-blind, multicenter, randomized, placebo-controlled trial. — Lu Y, Yan J, Liu J et al. Trials, 2020, 12 citations · DOI: 10.1186/s13063-020-04630-6
  91. Nature, Nurture, and the Polygenic Risk Score for Schizophrenia — Robin M. Murray, Evangelos Vassos Schizophrenia Bulletin, 2020, 8 citations · DOI: 10.1093/schbul/sbaa119
  92. RCT Study to Validate niPGT-A Clinical Benefit. Igenomix, 2020, rct
  93. Embryo Health Study Genomic Prediction Inc., 2020, cohort
  94. Noninvasive Preimplantation Genetic Testing for Aneuploidy Mỹ Đức Hospital, 2020, cohort
  95. Fresh versus elective frozen embryo transfer in IVF/ICSI cycles: a systematic review and meta-analysis of reproductive outcomes. — Roque M, Haahr T, Geber S et al. Human reproduction update, 2019, meta analysis, 348 citations · DOI: 10.1093/humupd/dmy033
  96. Comparing Within- and Between-Family Polygenic Score Prediction — Saskia Selzam, Stuart James Ritchie, Jean‐Baptiste Pingault et al. The American Journal of Human Genetics, 2019, cohort, 287 citations · DOI: 10.1016/j.ajhg.2019.06.006
  97. Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk — Andrea C. Palk, Shareefa Dalvie, Jantina de Vries et al. Philosophy Ethics and Humanities in Medicine, 2019, expert opinion, 96 citations · DOI: 10.1186/s13010-019-0073-8
  98. Polygenic risk scores in psychiatry: Will they be useful for clinicians? — Janice M. Fullerton, John I. Nürnberger F1000Research, 2019, expert opinion, 86 citations · DOI: 10.12688/f1000research.18491.1
  99. Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform. — Treff NR, Zimmerman R, Bechor E et al. European journal of medical genetics, 2019, computational, 82 citations · DOI: 10.1016/j.ejmg.2019.04.004
  100. Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction — Nathan R. Treff, Jennifer Eccles, Louis Lello et al. Frontiers in Endocrinology, 2019, case report, 79 citations · DOI: 10.3389/fendo.2019.00845
  101. Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial — Willem Verpoest, C. Staessen, Patrick M. Bossuyt et al. Human Reproduction, 2018, rct, 154 citations · DOI: 10.1093/humrep/dey262
  102. Multi-center Study to Validate niPGT-A Igenomix, 2018, cohort
  103. Consensus Mapping and Association Mapping in Hexaploid Oat. — Scott M. Smith NCSU Libraries Repository (North Carolina State University Libraries), 2017, 1 citations
  104. PGT-A Versus Blastocyst Morphology Selection Antalya IVF, 2017, rct
  105. An Examination of Polygenic Score Risk Prediction in Individuals With First-Episode Psychosis — Evangelos Vassos, Marta Di Forti, Jonathan R. I. Coleman et al. Biological Psychiatry, 2016, case control, 199 citations · DOI: 10.1016/j.biopsych.2016.06.028
  106. Single embryo transfer and IVF/ICSI outcome: a balanced appraisal — Jan Gerris Human Reproduction Update, 2004, expert opinion, 180 citations · DOI: 10.1093/humupd/dmh049
  107. American Society of Zoologists. Forty‐fifth annual meeting, Washington, D.C., September 11, 12, 13, 1948. Officers, program, list of titles, abstracts of papers — Kaufmann, Berwind Petersen, Gay, Helen The Anatomical Record, 1948, 1 citations · DOI: 10.1002/ar.1091010415