Preimplantation Genetic Testing for Aneuploidy: A Health Technology Assessment

In vitro fertilization (IVF) is a type of assisted reproductive technology that can help couples or individuals conceive a child. Embryos with extra or missing chromosomes, known as aneuploidy, can result in a failure to implant, early spontaneous pregnancy loss, or lead to a child born with a chromosomal abnormality. Preimplantation genetic testing for aneuploidy (PGT-A) is a genetic screening test used to identify embryos with aneuploidy and select or prioritize embryos with the correct number of chromosomes for transfer. We conducted a health technology assessment of PGT-A for people undergoing IVF, which included an evaluation of the effectiveness and budget impact of publicly funding PGT-A. A report describing a rapid review of the qualitative literature, direct patient engagement, a review of published literature examining ethical considerations relating to PGT, and a rapid review of the obstetrical and neonatal harms of PGT using trophectoderm biopsy has been published separately.

We performed a systematic literature search of the clinical evidence. We assessed the risk of bias of each included study using the Cochrane Risk of Bias tool and the quality of the body of evidence according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) Working Group criteria. We performed a systematic economic literature search, but we did not conduct a cost-utility analysis because of the uncertainty in the benefit of PGT-A. We also analyzed the budget impact of publicly funding PGT-A for individuals undergoing IVF in Ontario.

We included 6 RCTs in the clinical evidence review. We found PGT-A may not improve the cumulative live birth rate (GRADE: Very low) and may result in little to no difference in live birth rate after the first planned embryo transfer when evaluated per person undergoing PGT-A (GRADE: Low). PGT-A may not improve, and may decrease, cumulative pregnancy rates (GRADE: Low). After the first planned embryo transfer, PGT-A may not improve ongoing pregnancy (GRADE: Moderate) and may result in little to no difference in clinical pregnancy rate (GRADE: Very low) when evaluated per person receiving PGT-A. PGT-A may reduce the cumulative frequency of clinical pregnancy loss (GRADE: Low), but the evidence is very uncertain about the effect after the first planned embryo transfer when evaluated per person (GRADE: Very low). The annual budget impact of publicly funding PGT-A in Ontario over the next 5 years ranges from an additional $22.2 million in year 1 to $33.5 million in year 5, for a total budget impact of $139 million.

Overall, the evidence suggests PGT-A may not improve, or may result in little to no difference, in live birth rate or pregnancy rate compared with IVF alone, although the evidence is highly uncertain. The evidence suggests PGT-A may reduce spontaneous pregnancy loss; however, results remain very uncertain and no benefit in time to live birth was observed. We estimate that publicly funding PGT-A in Ontario would result in additional costs of $139 million over the next 5 years.