JBRA Assisted Reproduction 2025;29(Suppl.2 SBRA 2025):16
Poster Presentation
29^th Annual Congress of the SBRA. São Paulo/SP - Brazil, 2025
doi: 10.5935/1518-0557.20263537

P-04. Agreement between niPGT-A and trophectoderm biopsy: integrative review of the reliability of noninvasive prenatal genetic testing

Amanda Lemos Batista¹, Ana Carolina Belotti de Campos¹, Marcela del Bianco Mendes¹, Renato Borges Tesser¹, Rodrigo Alessandro Riemma Vela¹

¹Centro Universitário São Camilo - São Paulo - SP - Brasil

Objective: This study aims to evaluate the reliability of noninvasive preimplantation genetic testing for aneuploidy (niPGT-A) by analyzing the concordance between the results obtained from this method and those derived from trophectoderm (TE) biopsy. To achieve this, the study proposes to analyze data on sensitivity, specificity and rates of false positives and false negatives; examine the biological limitations of niPGT-A; discuss the factors influence its diagnostic accuracy; and assess the clinical potential of niPGT-A as a non-invasive alternative to TE biopsy.
Methods: To prepare this summary, a literature review was conducted to analyze the agreement between niPGT-A and TE biopsy. The bibliographic search was performed in the PubMed database, focusing on studies published in English between 2020 and 2025, with full text available and presenting comparative data between niGT-A and TE biopsy.
Results: The studies analyzed show that the diagnostic agreement between niPGT-A and TE biopsy is variable, reflecting the technical and biological limitations of the non-invasive method. In general, the agreement between the results obtained by TE biopsy and niPGT-A ranges from 60% to 86%, depending on the methodological criteria adopted, the genetic analysis technique used and the day the culture medium was collected. A multicenter study evaluating over a thousand human embryos reported an average concordance of 78.2%, with sensitivity ranging from 76.5% to 91.3% and specificity between 64.7% and 93.3%. Another prospective study with 302 samples showed concordance of up to 92% when the culture medium was collected on day 6 of embryonic development, compared to 72% on day 5. Furthermore, the rate of false negatives for niPGT-A remains a concern, standing at around 8.3% in some studies, which can compromise the correct identification of aneuploid embryos. The false positive rate is also significant, reaching up to 12% of cases, which can lead to the improper disposal of potentially viable embryos. Successful amplification of cell-free DNA (cfDNA) from culture medium ranged 84-89%, while TE biopsy exceeded 95%, showing greater technical stability. niPGT-A performance depends on minimizing maternal DNA contamination and standardizing culture. Strategies like sequential embryo washing, late collection (D6), and combining cfDNA sources may improve reliability. However, embryonic mosaicism and low cDNA limit accuracy. NiPGT-A has potential as complementary screening, but remains less reliable than TE biopsy for critical reproductive decisions.
Conclusion: niPGT-A represents a promising alternative to trophectoderm biopsy as it preserves embryonic integrity, but its application still has certain limitations. Agreement with TE results varies widely (60% to 86%), due to factors such as the day of collection, the genetic technique used and contamination control. Strategies such as late collection (D6), embryo washing and the combined use of cDNA from the culture medium and blastocyst fluid have improved concordance rates. Nevertheless, false negative and false positive rates must be taken into account. In addition, cDNA amplification has lower success rates than TE biopsy, showing that the technique is less stable. Therefore, despite its potential as a complementary screening tool, niPGT-A is not a substitute for the invasive gold standard, and it is necessary to standardize protocols and expand multicentre studies to validate its efficacy in decisive clinical contexts.