Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1301 human blastocysts

Rubio, Carmen; Navarro-Sánchez, Luis; García-Pascual, Carmen M.; Ocali, Olcay; Cimadomo, Danilo; Venier, William; Barroso, Gerardo; Kopcow, L.; Bahçeci, Mustafa; Kulmann, Marcos Iuri Roos; Lopez, L.; Fuente, Emilio de la; Navarro, Roser; Valbuena, Diana; Sakkas, Denny; Rienzi, Laura; Simón, Carlos

doi:10.1016/j.ajog.2020.04.035

Cited by 104 publications

(97 citation statements)

References 28 publications

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“…In addition, 147 embryos were from patients who had an abnormal karyotype were used for analysis of positive controls. 36 2018 May 24 NGS Whole blastocyst NGS Tsuiko 37 2018 June 14 NGS ICM NGS Popovic 38 2018 July 58 NGS TE/ICM NGS Chuang 39 2018 December 29 NGS TE/ICM NGS Victor 16 2019 January 100 NGS TE/ICM NGS Victor 40 2019 February 8 NGS TE/ICM NGS Popovic 41 2019 April 45 NGS Blastocyst outgrowth NGS Lawrenz 42 2019 June 84 NGS TE/ICM NGS Huang 43 2019 July 50 NGS Whole blastocyst NGS Treff 44 2019 August 14 NGS TE SNP array Munne 45 2020 January 57 NGS TE NGS Ou 46 2020 January 63 NGS Whole blastocyst NGS Sachdev 47 2020 February 32 NGS TE/ICM NGS Girardi 9 2020 March 88 NGS TE/ICM NGS Navratil 48 2020 April 75 NGS TE/Whole blastocyst NGS Rubio 49 2020 May 64 NGS ICM NGS Lin 50 2020 June 41 NGS ICM NGS Abbreviations: aCGH, array comparative hybridization; CGH, comparative genomic hybridization; ICM, inner cell mass; NGS, next-generation sequencing; qPCR, quantitative real-time PCR; PGT-A, preimplantation genetic testing for aneuploidy; SNP, single nucleotide polymorphism; TE, trophectoderm.…”

Section: Resultsmentioning

confidence: 99%

Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data

Marín

Treff

2020

Prenatal Diagnosis

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Preimplantation genetic testing for aneuploidy (PGT-A) reduces miscarriage risk, increases the success of IVF, shortens time to pregnancy, and reduces multiple gestation rates without compromising outcomes. The progression of PGT-A has included common application of next-generation sequencing (NGS) from single nucleotide polymorphism microarray, quantitative real-time PCR, and array comparative hybridization platforms of analysis. Additional putative advances in PGT-A capability include classifying embryos as mosaic and predicting the presence of segmental imbalance. A critical component in the process of technical validation of these advancements involves evaluation of concordance between reanalysis results and initial testing results. While many independent studies have investigated the concordance of results obtained from the remaining embryo with the original PGT-A diagnosis, compilation and systematic analysis of published data has not been performed. Here, we review results from 26 primary research articles describing concordance in 1271 human blastocysts from 2260 pairwise comparisons. Results illustrate significantly higher discordance from PGT-A methods which utilize NGS and include prediction of mosaicism or segmental imbalance. These results suggest caution when considering new iterations PGT-A.

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Section: Resultsmentioning

confidence: 99%

Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data

Marín

Treff

2020

Prenatal Diagnosis

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“…In a recent study, Rubio et al 18 reported that embryo free DNA analysis was 78.2% concordant with the corresponding TE biopsy, and no significant differences were detected among multiple centers ranging from 72.5% to 86.3%.…”

Section: The Future Of Pre‐implantation Genetic Testing (Strides Towamentioning

confidence: 96%

“…Several studies have recently attempted to conduct PGT using spent embryo culture media 15‐19 . Figure 7 shows the general procedure for collecting the spent embryo culture media.…”

Section: The Future Of Pre‐implantation Genetic Testing (Strides Towamentioning

confidence: 99%

“…Several studies have recently attempted to conduct PGT using spent embryo culture media. [15][16][17][18][19] Figure 7 shows the general procedure for collecting the spent embryo culture media. While blastocoelic fluid collection is also minimally invasive, spent media analysis does not require biopsy of the embryo itself, and anyone can collect spent media.…”

Section: Spent Mediamentioning

confidence: 99%

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Pre‐implantation genetic testing: Past, present, future

Takeuchi¹

2020

Reprod Medicine & Biology

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Since PGT was introduced in assisted reproductive technology (ART), it has become a routine method for examining embryo aneuploidy and genetic disorders in embryos, worldwide. Recently, in the European Society of Human Reproduction and Embryology (ESHRE), expression pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) were abbreviated as PGT; PGT was further subdivided into PGT-M (for monogenic disorder); PGT-SR (structural rearrangements), which causes miscarriage; and PGT-A (aneuploidy screening). Globally, PGT-A and PGT-SR are indicated for translocation carriers and women of advanced maternal age to improve pregnancy rates and reduce miscarriage rates. This year, clinical research for PGT-A in Japan began in earnest. The present manuscript discusses the history of PGT, its present status, and its future prospects.

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“…On the other hand, perhaps with the intention of obtaining larger amounts of free-DNA, some groups are routinely postponing and establishing free-DNA collection in culture medium to day 6 for all blastocysts ( Rubio et al ., 2020 ). The meta-analysis published by Bourdon et al .…”

mentioning

confidence: 99%

Noninvasive preimplantation genetic testing for aneuploidies (niPGT-A) and the principle of primum non nocere

Franco

Dieamant

Oliveira

2020

JBRA Assisted Reproduction

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Perhaps with the intention of obtaining larger amounts of free-DNA, some groups are routinely postponing and establishing free-DNA collection in culture medium for Noninvasive preimplantation genetic testing for aneuploidies (niPGT-A) to day 6 for all blastocysts. A meta-analysis served as the basis for such decision, since statistically similar live birth rates were observed when the transfers of euploid blastocysts were performed on day 5 versus day 6 However, the euploidy analysis was conducted in only two studies However, after including the two more studies we performed a new meta-analysis that clearly showed the risks of losing live births with the decision of adopting the 6th day as the endpoint for gathering free-DNA. We would be losing 1.71x more live births.

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Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1301 human blastocysts

Cited by 104 publications

References 28 publications

Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data

Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data

Pre‐implantation genetic testing: Past, present, future

Noninvasive preimplantation genetic testing for aneuploidies (niPGT-A) and the principle of primum non nocere

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