Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and 13 by Maternal Plasma DNA Sequencing
Author Information
Author(s): Chen Eric Z., Chiu Rossa W. K., Sun Hao, Akolekar Ranjit, Chan K. C. Allen, Leung Tak Y., Jiang Peiyong, Zheng Yama W. L., Lun Fiona M. F., Chan Lisa Y. S., Jin Yongjie, Go Attie T. J. I., Lau Elizabeth T., To William W. K., Leung Wing C., Tang Rebecca Y. K., Au-Yeung Sidney K. C., Lam Helena, Kung Yu Y., Zhang Xiuqing, Janecke Andreas R.
Primary Institution: Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong
Hypothesis
Noninvasive prenatal diagnosis of trisomy 13 and 18 by maternal plasma DNA sequencing would likely be less accurate than for trisomy 21.
Conclusion
The study demonstrated that noninvasive prenatal diagnosis of trisomy 13 and 18 is achievable with high sensitivity and specificity using maternal plasma DNA sequencing.
Supporting Evidence
- Massively parallel sequencing of maternal plasma DNA allows for accurate detection of fetal trisomy.
- Using a non-repeat-masked reference genome improved the detection rates for trisomy 13 and 18.
- GC correction significantly enhanced the precision of measuring genomic representations of chromosomes 13 and 18.
Takeaway
Doctors can check if a baby has certain genetic conditions by looking at tiny bits of DNA from the mother’s blood, which is safer than other methods.
Methodology
The study involved analyzing maternal plasma DNA from 392 pregnancies using massively parallel sequencing to detect trisomy 13 and 18.
Potential Biases
Potential biases in sequencing due to GC content variations may affect the accuracy of the results.
Limitations
The detection accuracies for trisomy 13 and 18 were still lower than for trisomy 21, indicating room for improvement.
Participant Demographics
Participants included pregnant women from Hong Kong, the Netherlands, and the UK.
Digital Object Identifier (DOI)
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