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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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Noninvasive Prenatal Screening for Common Fetal Aneuploidies Using Single-Molecule Sequencing
Yeqing Qian1, Yongfeng Liu2, Kai Yan1
1Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China; Key Laboratory of Reproductive Genetics, Ministry of Education, School of Medicine, Zhejiang University, Hangzhou, China.
Summary
Single-molecule sequencing (SMS) improves noninvasive prenatal screening (NIPS) for fetal aneuploidies by reducing amplification bias. This method offers higher accuracy and diagnostic performance compared to next-generation sequencing (NGS).
Area of Science:
- Genomics
- Molecular Biology
- Prenatal Diagnostics
Background:
- Next-generation sequencing (NGS) for noninvasive prenatal screening (NIPS) can be affected by amplification biases.
- Single-molecule sequencing (SMS) omits the polymerase chain reaction (PCR) step, potentially reducing these biases.
Purpose of the Study:
- To evaluate the performance of SMS-based NIPS for common fetal aneuploidies.
- To compare the GC-induced bias between SMS- and NGS-based NIPS.
Main Methods:
- SMS-based NIPS was applied to screen 477 pregnant women for fetal aneuploidies.
- Sensitivity, specificity, positive predictive value, and negative predictive value were calculated.
- GC bias was compared between SMS and NGS methods.
Main Results:
- 100% sensitivity was achieved for fetal trisomy 13 (T13), trisomy 18 (T18), and trisomy 21 (T21).
- Overall specificity was 100%.
- SMS demonstrated less GC bias and better diagnostic performance than NGS, with improved distinction for T21 and T18.
Conclusions:
- SMS enhances NIPS performance for fetal aneuploidies by minimizing GC bias during library preparation and sequencing.
- SMS offers a more accurate and reliable method for NIPS compared to traditional NGS approaches.
