Abstract
Non-invasive preimplantation genetic testing for aneuploidies (niPGT-A) aiming to assess cell-free embryonic DNA in spent culture media is promising, especially because it might overcome the diminished rates of implantation caused by the inadequate performance of trophectoderm (TE) biopsy. Our center is part of the largest study to date assessing the concordance between conventional PGT-A and niPGT-A, and we report here the delivery of the first baby born in Brazil using niPGT-A. The parents of the baby were admitted to our center in 2018. They did not present history of infertility, and they were interested in using in vitro fertilization (IVF) and PGT-A in order to avoid congenital anomalies in the offspring. A total of 11 (3 day-5 and 8 day-6) expanded blastocysts were biopsied, and the spent culture media (culture from day-4 to day-6) from 8 day-6 blastocysts were collected for niPGT-A. Overall, 7 embryos yielded informative results for trophectoderm (TE) and media samples. Among the embryos with informative results, 5 presented concordant diagnosis between conventional PGT-A and niPGT-A, and 2 presented discordant diagnosis (1 false-positive and one false-negative). The Blastocyst 4, diagnosed as 46, XY by both niPGT-A and conventional PGT-A, was warmed up and transferred, resulting in the birth of a healthy 3.8 kg boy in February 2020. Based on our results and the recent literature, we believe that the safest current application of niPGT-A would be as a method of embryo selection for patients without an indication for conventional PGT-A. The approximate 80% of reliability of niPGT-A in the diagnosis of ploidy is superior to predictions provided by other non-invasive approaches like morphology and morphokinetics selection.
Highlights
The technology for in vitro fertilization (IVF) has evolved greatly towards the achievement of higher success rates, and current state-of-the-art laboratories apply extended culture to blastocyst stage, vitrification, and time-lapse incubators, for instance.[1]
Our center is part of the largest study to date assessing the concordance between conventional preimplantation genetic testing for aneuploidies (PGT-A) and Non-invasive preimplantation genetic testing for aneuploidies (niPGT-A), and we report here the delivery of the first baby born in Brazil using niPGT-A
The couple decided to undergo IVF and enroll in our prospective study assessing the concordance between PGT-A from TE biopsy and niPGT-A from cell-free DNA in spent culture media
Summary
The technology for in vitro fertilization (IVF) has evolved greatly towards the achievement of higher success rates, and current state-of-the-art laboratories apply extended culture to blastocyst stage, vitrification, and time-lapse incubators, for instance.[1] One main issue in reproductive medicine that these technological advances cannot overcome is advanced maternal age (AMA), which reduces implantation rates due to the higher frequency of aneuploidies of meiotic origin linked to age.[2] To address this matter, preimplantation genetic testing for aneuploidies (PGT-A), performed through a trophectoderm (TE) biopsy and generation sequencing (NGS), can be applied. All of these previous studies have employed additional manipulation on analyzed embryos, like vitrification or assisted hatching, prior to the collection of spent culture media, approaches that would not be applied during an IVF cycle with niPGT-A In this sense, Rubio et al.[16] have developed a pilot study aiming to assess the concordance between media and TE samples from blastocysts that were not submitted to those additional manipulations. The analysis of TE and media samples from 1,301 blastocysts (from 8 IVF centers) has provided an overall concordance of 78.2%,17 and the delivery of the first baby born in Brazil after niPGT-A
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