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. 2021 Mar 24;12(4):461.
doi: 10.3390/genes12040461.

Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia

Yusra Alyafee  1 , Qamre Alam  1 , Abeer Al Tuwaijri  1 , Muhammad Umair  1 , Shahad Haddad  1 , Meshael Alharbi  1 , Hayat Alrabiah  2 , Maha Al-Ghuraibi  2 , Sahar Al-Showaier  2 , Majid Alfadhel  1   3
Affiliations

Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia

Yusra Alyafee et al. Genes (Basel). .

Abstract

Recently, high-throughput next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies techniques came into use. This technique is essential for successful embryo transfer and accomplishing pregnancy, thus reducing the time and cost of additional cycles. In this study, we describe our first experience in introducing an NGS-based preimplantation genetic testing for aneuploidy (PGT-A) service using next-generation sequencing in King Abdulaziz Medical City located in Riyadh, Saudi Arabia. Our main goal was to report the successful implementation of this new technology in clinical practice and highlight the factors that may affect the results. In total, 200 blastomere biopsies were obtained from 36 in vitro fertilization (IVF) cycles from Saudi couples suffering from prolonged infertility or recurrent embryo transfer failure. NGS-based PGT-A was performed in all embryos. The results were analyzed in five age groups, showing that aneuploidy rates increased with maternal age. Moreover, the results also showed that complex abnormal embryos with (2-5) aneuploidy are the most common type of embryos. Additionally, our data showed that chromosome 16-related abnormality was the most frequent abnormality detected among all reported abnormalities. In conclusion, our study suggests that NGS-based PGT-A is an applicable and reliable technique for routine-based embryo screening, especially for couples suffering from recurrent miscarriages or multiple embryo transfer failures.

Keywords: aneuploidy; embryos; euploidy; preimplantation genetic testing for aneuploidy (PGTA).

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Conflict of interest statement

The authors have reported no conflict of interest.

Figures

Figure 1
Figure 1
Images of ion reporter genomic viewer for different embryos. (A) Result of a euploid male embryo. (B) Result of complex aneuploidy embryo depicting three monosomies at chromosome number 16, 17, and 19. (C) Result of complex aneuploidy embryo depicting five trisomies at chromosome number 6, 11, 14, 15, and 19. (D) Result of chaotic (more than 5 aneuploidies) depicting aneuploidies at chromosomes number 2, 8, 11, 12, 16, and 20.
Figure 2
Figure 2
Frequency of aneuploidy for all autosomal chromosomes.
See this image and copyright information in PMC

References

    1. Alberti A., Salomon L.J., Le Lorc’h M., Couloux A., Bussières L., Goupil S., Malan V., Pelletier E., Hyon C., Vialard F., et al. Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma. Prenat Diagn. 2015;35:471–476. doi: 10.1002/pd.4561. - DOI - PubMed
    1. Badeau M., Lindsay C., Blais J., Nshimyumukiza L., Takwoingi Y., Langlois S., Légaré F., Giguère Y., Turgeon A.F., Witteman W., et al. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst. Rev. 2017;11:Cd011767. doi: 10.1002/14651858.CD011767.pub2. - DOI - PMC - PubMed
    1. Benachi A., Letourneau A., Kleinfinger P., Senat M.V., Gautier E., Favre R., Bidat L., Houfflin-Debarge V., Bouyer J., Costa J.M. Cell-free DNA analysis in maternal plasma in cases of fetal abnormalities detected on ultrasound examination. Obstet. Gynecol. 2015;125:1330–1337. doi: 10.1097/AOG.0000000000000874. - DOI - PubMed
    1. Wu Y., Zhang L., Lv H., Li Y., Zhu C., Tian W., Zhao L. Applying high-throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication. J. Cell Mol. Med. 2020;24:9936–9944. doi: 10.1111/jcmm.15593. - DOI - PMC - PubMed
    1. Cuckle H., Maymon R. Development of prenatal screening--A historical overview. Semin. Perinatol. 2016;40:12–22. doi: 10.1053/j.semperi.2015.11.003. - DOI - PubMed

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