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. 2021 Feb 4:12:630787.
doi: 10.3389/fgene.2021.630787. eCollection 2021.

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

Yusra Alyafee  1 , Abeer Al Tuwaijri  1 , Qamre Alam  1 , Muhammad Umair  1 , Shahad Haddad  1 , Mashael Alharbi  1 , Maryam Ballow  1 , Mohammed Al Drees  1 , Abdulkareem AlAbdulrahman  1 , Aziza Al Khaldi  2 , Majid Alfadhel  1   3
Affiliations

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

Yusra Alyafee et al. Front Genet. .

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.

Keywords: aneuploidy; chromosomal duplications; deletions; fetal DNA; next generation sequencing; non-invasive prenatal testing (NIPT).

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Distribution of cfDNA fetal fraction percentage of all the 200 NIPT cases.
FIGURE 2
FIGURE 2
(A) Scatterplot of BMI and cfDNA fetal fraction. (B) Scatterplot of body weight and cfDNA fetal fraction. (C) Scatterplot of maternal age, and cfDNA fetal fraction. (D) Scatterplot of gestational age and cfDNA fetal fraction.
FIGURE 3
FIGURE 3
Study summary for all the NIPT recruited cases.
See this image and copyright information in PMC

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References

    1. American College of Obstetricians and Gynecologists (ACOG) (2015). Committee opinion no. 640: cell-free DNA screening for fetal aneuploidy. Obstet. Gynecol. 126 e31–e37. 10.1097/01.AOG.0000471172.63927.b6 - DOI - PubMed
    1. American College of Obstetricians and Gynecologists (ACOG) (2016). Practice bulletin no. 163: screening for fetal aneuploidy. Obstet. Gynecol. 127 e123–e137. 10.1097/AOG.0000000000001406 - DOI - PubMed
    1. Al Salloum A., El Mouzan M. I., Al Herbish A., Al Omer A., Qurashi M. (2015). Prevalence of selected congenital anomalies in Saudi children: a community-based study. Ann. Saudi Med. 35 107–110. 10.5144/0256-4947.2015.107 - DOI - PMC - PubMed
    1. Al-Ghamdi A. A., Makhashen S. F. (2016). Etiology of recurrent pregnancy loss in Saudi Females. Saudi J. Med. Med. Sci. 4 187–191. 10.4103/1658-631X.188258 - DOI - PMC - PubMed
    1. Ashoor G., Syngelaki A., Wagner M., Birdir C., Nicolaides K. H. (2012). Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 206:322.e1-5. 10.1016/j.ajog.2012.01.029 - DOI - PubMed

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