Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia.

Yusra Alyafee,Mohammed Al Drees,Mashael Alharbi,Shahad Haddad,Muhammad Umair,Abeer Al Tuwaijri,Abdulkareem Alabdulrahman,Qamre Alam,Majid Alfadhel,Maryam Ballow,Aziza Al Khaldi

doi:10.3389/fgene.2021.630787

Abstract

Background: Non-invasive prenatal testing (NIPT) for aneuploidy in pregnant women screening has been recently established in Saudi Arabia. We aim from this study to report our experience in the implementation of this new technology in clinical practice and to assess factors influencing cell-free fetal (cffDNA) fraction and successful NIPT reporting.Methods: In total, 200 pregnant women were subjected to the NIPT test using standard methods. Next-generation sequencing (NGS) was used to analyze cffDNA in maternal plasma.Results: Out of the 200 NIPT cases, the average age of pregnant women was 35 ± 6 years (range: 21–48 years). The average cffDNA fraction of reported cases was 13.72% (range: 3–31%). Out of these 200 cases, 187 (93.5%) were at low risk, while 13 (6.5%) cases revealed high risk for aneuploidy. Among these chromosomal abnormalities, 7 (3.5%) cases of Down’s syndrome, 5 (2.5%) Edwards’ Syndrome, and only 1 case of (0.5%) Patau’s syndrome was observed. Out of the 13 high-risk cases, 2 (15.3%) were found in women below the age of 30.Conclusion: This is the first study reporting the successful implementation of an in-house NIPT screening service in Saudi Arabia. Our data showed high accuracy and sensitivity to detect high-risk cases indicating the usefulness of such a technique as an alternative to invasive testing and (hopefully) will change the common screening practice for pregnant women in Saudi Arabia.

Highlights

Congenital abnormalities in the fetus are considered one of the most important causes of infant death (Wapner and Lewis, 2002)
We describe our experience in introducing Non-invasive prenatal testing (NIPT) service in King Abdulaziz Medical City located in Riyadh, Saudi Arabia
This study was approved by the Institutional Review Board (IRB) of King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia (RC19/115/R-Approved July, 2019)

Summary

Introduction

Congenital abnormalities in the fetus are considered one of the most important causes of infant death (Wapner and Lewis, 2002). In Saudi Arabia, 6.7% of recurrent pregnancy loss is caused by chromosomal abnormalities (AlGhamdi and Makhashen, 2016), and Down syndrome is considered the most common chromosomal anomaly with a prevalence of 6.6 per 10,000 children (Al Salloum et al, 2015). In 1997, Lo et al (1997) reported that cffDNA can be quantified in the plasma from pregnant women This finding paved the way for developing new applications in clinical practice that relied on analyzing this fetal genetic material, i.e., detecting fetal sex and Rh blood group type (Rather et al, 2019). Since 2011, Non-invasive prenatal testing (NIPT) has been recommended as an extremely accurate method for pregnant women with a high risk of fetal aneuploidy by the American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine (American College of Obstetricians and Gynecologists (ACOG), 2015). We aim from this study to report our experience in the implementation of this new technology in clinical practice and to assess factors influencing cell-free fetal (cffDNA) fraction and successful NIPT reporting

Methods

Results

Discussion

Conclusion