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Down Syndrome

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Relationship between obstructive sleep apnea cardiac complications and sleepiness in children with Down syndrome.

Sleep medicine 26847969
OBJECTIVE/BACKGROUND: Children with Down syndrome (DS) have a high rate of pulmonary hypertension and sleepiness. They also have a high prevalence of obstructive sleep apnea syndrome (OSAS). We hypothesized that OSAS was associated with cardiovascula...
Adolescent Cardiovascular Diseases Child Continuous Positive Airway Pressure Down Syndrome Female Humans Male Polysomnography Sleep Apnea, Obstructive Sleep Wake Disorders Young Adult
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Intelligent Noninvasive Diagnosis of Aneuploidy: Raw Values and Highly Imbalanced Dataset.

IEEE journal of biomedical and health informatics 28026791
The objective of this paper is to introduce a noninvasive diagnosis procedure for aneuploidy and to minimize the social and financial cost of prenatal diagnosis tests that are performed for fetal aneuploidies in an early stage of pregnancy. We propos...
Aneuploidy Biomarkers Computational Biology Databases, Factual Down Syndrome Female Humans Machine Learning Models, Statistical Neural Networks, Computer Pregnancy Prenatal Diagnosis Ultrasonography, Prenatal
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Automatic detection and measurement of nuchal translucency.

Computers in biology and medicine 28126630
In this paper we propose a new methodology to support the physician both to identify automatically the nuchal region and to obtain a correct thickness measurement of the nuchal translucency. The thickness of the nuchal translucency is one of the main...
Algorithms Down Syndrome Humans Image Interpretation, Computer-Assisted Machine Learning Nuchal Translucency Measurement Pattern Recognition, Automated Reproducibility of Results Sensitivity and Specificity Wavelet Analysis
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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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Two-stage approach for risk estimation of fetal trisomy 21 and other aneuploidies using computational intelligence systems.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 28640401
OBJECTIVE: To estimate the risk of fetal trisomy 21 (T21) and other chromosomal abnormalities (OCA) at 11-13 weeks' gestation using computational intelligence classification methods.
Artificial Intelligence Down Syndrome Female Humans Pregnancy Pregnancy Trimester, First Prenatal Diagnosis Risk Assessment Sensitivity and Specificity
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Evaluation of machine learning algorithms for improved risk assessment for Down's syndrome.

Computers in biology and medicine 29758452
Prenatal screening generates a great amount of data that is used for predicting risk of various disorders. Prenatal risk assessment is based on multiple clinical variables and overall performance is defined by how well the risk algorithm is optimized...
Adult Algorithms Down Syndrome Female Humans Machine Learning Models, Statistical Neural Networks, Computer Pregnancy Prenatal Diagnosis Risk Assessment ROC Curve Support Vector Machine
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Bi-stream CNN Down Syndrome screening model based on genotyping array.

BMC medical genomics 30453947
BACKGROUND: Human Down syndrome (DS) is usually caused by genomic micro-duplications and dosage imbalances of human chromosome 21. It is associated with many genomic and phenotype abnormalities. Even though human DS occurs about 1 per 1,000 births wo...
Chromosome Mapping Deep Learning Down Syndrome Genotype Humans Neural Networks, Computer Polymorphism, Single Nucleotide
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