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Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia.
In sum, noninvasive prenatal diagnosis for DS can be a boon to women's autonomy, allowing them to think clearly about motherhood and disability without the distractions of an invasive and minimally risky test.
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.
Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the potential of massively parallel shotgun sequencing as a viable path for noninvasive prenatal diagnosis of fetal Trisomy 21 and its validation in a larger clinical validation study, the expected completion of the larger clinical validation study later this year, and the Company's commitment to improving healthcare through revolutionary genetic analysis solutions, are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995.
This new study addresses a problem that has been puzzling investigators in the field of noninvasive prenatal diagnosis over the last ten years," stated Dennis Lo, M.
Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.
The maternal inheritance of the fetus was resolved as a series of >3000 haplotype blocks across the entire genome, and the approach was demonstrated to be useful for the noninvasive prenatal diagnosis of monogenic diseases such as [beta]-thalassemia (2).
Recent large studies have confirmed that noninvasive prenatal diagnosis for fetal aneuploidies is achievable (1-7).
Its existence offers opportunities for noninvasive prenatal diagnosis, including Down syndrome detection (9), but fetal DNA coexists in the mother's plasma with a large background of maternal DNA (10).