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

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

doi:10.3390/genes12040461

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.

Highlights

Congenital abnormalities and chromosomal abnormalities in the fetus are considered one of the most important causes of infant abnormality or death [1]
Aneuploidies in the human oocyte/embryo occurs in women over the age of 35 years, maternal age is a major concern for aneuploidy and genetic disorders in which the contributes to context miscarriage a low pregnancy after offspring in the of the riseand of IVFhence in mothers of increasingly olderrate ages [12]
Among the 69 in vitro fertilization (IVF) samples investigated in the age group of 36–40 years, only 17 (24.6%) were euploid, while 42 (60.9%) showed aneuploidy

Summary

Introduction

Congenital abnormalities and chromosomal abnormalities in the fetus are considered one of the most important causes of infant abnormality or death [1]. Down syndrome or trisomy 21 (T21) is one of the most common chromosomal abnormalities, occurring with a frequency of 1 per 800 live births [3], with a prevalence of 6.6 per 10,000 children in. 6.7% of recurrent pregnancy loss is caused by chromosomal abnormalities in Saudi Arabia [7]. It is well established that a high incidence of chromosomal aneuploidy in human embryos, as well as oocytes, contributes to low implantation and pregnancy rates. These aneuploidies mostly occur due to errors in chromosome segregation during female meiosis and less often during consecutive embryo mitosis [8,9]; male meiosis is rarely a cause of embryonic aneuploidies.

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