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Trisomy 13 Syndrome

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Improving the calling of non-invasive prenatal testing on 13-/18-/21-trisomy by support vector machine discrimination.

PloS one 30517156
With the advance of next-generation sequencing (NGS) technologies, non-invasive prenatal testing (NIPT) has been developed and employed in fetal aneuploidy screening on 13-/18-/21-trisomies through detecting cell-free fetal DNA (cffDNA) in maternal b...
Adult Diagnosis, Computer-Assisted Diagnosis, Differential Down Syndrome False Negative Reactions False Positive Reactions Female Genetic Testing High-Throughput Nucleotide Sequencing Humans Machine Learning Pregnancy Prenatal Diagnosis Retrospective Studies Sequence Analysis, DNA Support Vector Machine Trisomy 13 Syndrome Trisomy 18 Syndrome Young Adult
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Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.

BMC medical genomics 29439729
BACKGROUND: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good ap...
Adolescent Adult Computational Biology Demography Down Syndrome Female Humans Klinefelter Syndrome Male Middle Aged Mothers Neural Networks, Computer Pregnancy Pregnancy Trimester, First Prenatal Diagnosis Trisomy 13 Syndrome Trisomy 18 Syndrome Turner Syndrome Ultrasonography Young Adult
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A machine learning technology to improve the risk of non-invasive prenatal tests.

Technology and health care : official journal of the European Society for Engineering and Medicine 35275583
BACKGROUND: Timely and accurate diagnosis of genetic diseases can lead to proper action and prevention of irreparable events.
Female Humans Machine Learning Pregnancy Pregnancy Trimester, First Prenatal Diagnosis Technology Trisomy 13 Syndrome Trisomy 18 Syndrome
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