Noninvasive preimplantation genetic testing for aneuploidy

Lisitsyna OI, Ekimov AN, Atapina EE, Syrkasheva AG, Goryainova EG, Makarova NP, Trofimov DYu, Dolgushina NV
About authors

Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia

Correspondence should be addressed: Olga I. Lisitsyna
Akademika Oparina, 4, Moscow, 117997, Russia; ur.xobni@avokyzay_o

About paper

Funding: the study was supported by the Russian Foundation for Basic Research under research project №23-25-00346.

Author contribution: Makarova NP, Lisitsyna OI, Dolgushina NV — study concept and design; Lisitsyna OI, Makarova NP, Dolgushina NV, Syrkasheva AG, Ekimov AN — manuscript writing and editing; Lisitsyna OI — statistical processing of the results; Goryainova EG, Makarova NP — biomaterial collection; Ekimov AN, Atapina EE — laboratory phase; Dolgushina NV, Trofimov DYu — publication approval.

Compliance with ethical standards: the study was approved by the Ethics Committee of the Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology (protocol № 10 of 28 October 2021). The patients submitted the informed consent to study participation.

Received: 2023-06-18 Accepted: 2023-08-09 Published online: 2023-08-30

To date the world community is actively working to optimize the approaches to determining chromosomal abnormalities in embryos. The study was aimed to assess the possibility of using noninvasive preimplantation genetic testing for aneuploidy (niPGT-A) through analysis of cell-free DNA in spent culture medium (SCM). We conducted niPGT-A of aneuploid embryos by analysis of cell-free DNA in SCM. All blastocysts were considered to be aneuploid based on the results of previous preimplantation genetic testing for aneuploidy (PGT-A) with trophectoderm (TE) biopsy. The study involved 11 embryos from seven couples. All the embryos were warmed and individually cultured in the 10 µL drops for 9 h. All SCM was collected and analyzed by niPGT-A. The results obtained were tested for concordance with previous PGT-A data. A total of 12 SCM samples were assessed: 11 samples, in which the embryos were cultured, and one control sample. Chaotic niPGT-A results not allowing the karyotype diagnosis were obtained in one case (9.1%) out of 11. Full concordance of the PGT-A and niPGT-A results was revealed in seven cases out of 10 (70%), while clinical concordance was found in nine cases out of 10 (90%). In one case (10%), the blastocyst was considered to have euploid karyotype based on the niPGT-A data. It has been concluded that niPGT-A can be a promising method of preimplantation embryonal chromosomal status diagnosis that requires no biopsy.

Keywords: cell-free DNA, aneuploidy, noninvasive preimplantation genetic testing, noninvasive PGT-A, niPGT-A, PGT-A, spent culture medium, SCM, trophectoderm biopsy