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Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia
Yusra Alyafee1, Abeer Al Tuwaijri1, Qamre Alam1
1Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdul Aziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
This study demonstrates the successful implementation of non-invasive prenatal testing (NIPT) in Saudi Arabia, accurately identifying high-risk pregnancies for aneuploidy. The findings support NIPT as a valuable alternative to invasive screening methods for pregnant women.
Area of Science:
- Genetics
- Obstetrics
- Molecular Biology
Background:
- Non-invasive prenatal testing (NIPT) for aneuploidy screening is a recent advancement in Saudi Arabia.
- Implementation of NIPT in clinical practice requires assessment of influencing factors and reporting success.
Purpose of the Study:
- To report the experience of implementing NIPT in Saudi Arabia.
- To assess factors affecting cell-free fetal DNA (cffDNA) fraction and NIPT reporting success.
Main Methods:
- 200 pregnant women underwent NIPT using standard protocols.
- Next-generation sequencing (NGS) analyzed cell-free fetal DNA (cffDNA) in maternal plasma.
Main Results:
- Average cffDNA fraction was 13.72% (range: 3-31%).
- 93.5% of cases were low risk; 6.5% were high risk for aneuploidy.
- High-risk cases included Down's syndrome (3.5%), Edwards' Syndrome (2.5%), and Patau's syndrome (0.5%).
Conclusions:
- This is the first study on in-house NIPT implementation in Saudi Arabia.
- NIPT demonstrated high accuracy and sensitivity for detecting high-risk aneuploidy cases.
- NIPT offers a valuable alternative to invasive testing, potentially transforming prenatal screening in Saudi Arabia.
