784: Novel sequencing-based framework for non-invasive fetal genotyping

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Statistical considerations for digital approaches to non-invasive fetal genotyping

MOTIVATION A growing body of literature has demonstrated the potential for non-invasive diagnosis of a variety of human genetic diseases using cell-free DNA extracted from maternal plasma samples in early gestation. Such methods are of great significance to the obstetrics community because of their potential use as clinical standard of care. Proof of concept for such approaches has been establi...

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Background: Prenatal diagnosis for Fetal Chromosomal anomalies currently relies on assessment of risk followed by a combination of biochemical and nuchal translucency. Trisomy 21 is the most common trisomy that is associated with intellectual disability. Pregnant women who receive a prenatal diagnosis of trisomy 21 currently have the option of continuing or terminating their pregnancy, but no f...

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Non-invasive fetal ECG analysis.

Despite the important advances achieved in the field of adult electrocardiography signal processing, the analysis of the non-invasive fetal electrocardiogram (NI-FECG) remains a challenge. Currently no gold standard database exists which provides labelled FECG QRS complexes (and other morphological parameters), and publications rely either on proprietary databases or a very limited set of data ...

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ژورنال

عنوان ژورنال: American Journal of Obstetrics and Gynecology

سال: 2020

ISSN: 0002-9378

DOI: 10.1016/j.ajog.2019.11.800