AIMC Topic: 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 Dec 5, 2018
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...
Humans Machine Learning Retrospective Studies Pregnancy Female Young Adult Adult Diagnosis, Computer-Assisted Support Vector Machine Sequence Analysis, DNA Diagnosis, Differential Genetic Testing High-Throughput Nucleotide Sequencing Down Syndrome False Negative Reactions False Positive Reactions Prenatal Diagnosis Trisomy 13 Syndrome Trisomy 18 Syndrome
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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 Feb 13, 2018
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...
Humans Neural Networks, Computer Pregnancy Female Young Adult Adult Male Middle Aged Adolescent Ultrasonography Computational Biology Pregnancy Trimester, First Mothers Down Syndrome Demography Prenatal Diagnosis Trisomy 13 Syndrome Trisomy 18 Syndrome Klinefelter Syndrome Turner Syndrome
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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 Jan 1, 2022
BACKGROUND: Timely and accurate diagnosis of genetic diseases can lead to proper action and prevention of irreparable events.
Humans Machine Learning Technology Pregnancy Female Pregnancy Trimester, First Prenatal Diagnosis Trisomy 13 Syndrome Trisomy 18 Syndrome
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