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Effective noninvasive zygosity determination by maternal plasma target region sequencing
Jing Zheng1, Chenming Xu, Jing Guo
1Science and Technology, BGI-Shenzhen, Shenzhen, China.
Plos One
|June 14, 2013
Summary
This study introduces a new noninvasive method for determining twin zygosity using maternal plasma sequencing. The approach shows high accuracy, offering a valuable alternative for clinical practice.
Area of Science:
- Genetics
- Molecular Biology
- Maternal-Fetal Medicine
Background:
- Limited noninvasive molecular genetic methods exist for clinical zygosity determination in twin pregnancies.
- This study developed a novel approach using maternal plasma target region sequencing.
Purpose of the Study:
- To develop and validate a noninvasive method for determining zygosity in twin pregnancies.
- To assess the sensitivity and specificity of the novel method under various conditions.
Main Methods:
- Constructed a statistical model using likelihood ratios (Li) and dynamic thresholds.
- Targeted 4,524 single nucleotide polymorphisms (SNPs) across 22 autosomes.
- Evaluated the method using maternal plasma from dizygotic (DZ) twins, monozygotic (MZ) twins, and singletons, with in silico analysis of cell-free fetal DNA (cff-DNA) concentration and sequence depth.
Main Results:
- Achieved high accuracy in classifying DZ and MZ twin pregnancies.
- In silico analysis demonstrated high sensitivity (99.90%) at 10% cff-DNA and high specificity (97%) at 15% cff-DNA with sufficient sequence depth.
- Singleton samples were correctly identified.
Conclusions:
- Noninvasive zygosity determination in twin pregnancies is feasible using target region sequencing of maternal plasma.
- The method offers high sensitivity and specificity, making it a viable alternative for clinical use.
