AIMC Topic: Down Syndrome

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Bi-stream CNN Down Syndrome screening model based on genotyping array.

BMC medical genomics Nov 20, 2018
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 Polymorphism, Single Nucleotide Genotype Down Syndrome Neural Networks, Computer Deep Learning Humans
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Evaluation of machine learning algorithms for improved risk assessment for Down's syndrome.

Computers in biology and medicine May 4, 2018
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...
Humans Neural Networks, Computer Machine Learning Support Vector Machine Models, Statistical Down Syndrome Prenatal Diagnosis Adult Risk Assessment ROC Curve Algorithms Pregnancy Female
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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 Mar 4, 2018
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.
Prenatal Diagnosis Risk Assessment Pregnancy Trimester, First Down Syndrome Humans Female Sensitivity and Specificity Artificial Intelligence Pregnancy
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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 Female Young Adult Neural Networks, Computer Pregnancy Klinefelter Syndrome Turner Syndrome Pregnancy Trimester, First Mothers Down Syndrome Trisomy 13 Syndrome Trisomy 18 Syndrome Demography Prenatal Diagnosis Adolescent Ultrasonography Computational Biology Adult Male Middle Aged
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Automatic detection and measurement of nuchal translucency.

Computers in biology and medicine Jan 20, 2017
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...
Humans Wavelet Analysis Nuchal Translucency Measurement Sensitivity and Specificity Image Interpretation, Computer-Assisted Pattern Recognition, Automated Down Syndrome Machine Learning Algorithms Reproducibility of Results
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Intelligent Noninvasive Diagnosis of Aneuploidy: Raw Values and Highly Imbalanced Dataset.

IEEE journal of biomedical and health informatics Dec 22, 2016
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...
Ultrasonography, Prenatal Computational Biology Models, Statistical Prenatal Diagnosis Aneuploidy Down Syndrome Biomarkers Pregnancy Female Neural Networks, Computer Machine Learning Databases, Factual Humans
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Relationship between obstructive sleep apnea cardiac complications and sleepiness in children with Down syndrome.

Sleep medicine Oct 23, 2015
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...
Young Adult Male Cardiovascular Diseases Adolescent Humans Female Polysomnography Continuous Positive Airway Pressure Sleep Wake Disorders Child Sleep Apnea, Obstructive Down Syndrome
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Benchmarking Automatic Speech Recognition Technology for Natural Language Samples of Children With and Without Developmental Delays.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference Jul 1, 2024
Natural language sampling (NLS) offers rich insights into real-world speech and language usage across diverse groups; yet, human transcription is time-consuming and costly. Automatic speech recognition (ASR) technology has the potential to revolution...
Humans Female Male Automation Down Syndrome Speech Recognition Software Developmental Disabilities Child, Preschool Natural Language Processing Benchmarking
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Hematological disturbances in Down syndrome: single centre experience of thirteen years and review of the literature.

The Turkish journal of pediatrics Jan 1, 2019
Karakurt N, Uslu İ, Aygün C, Albayrak C. Hematological disturbances in Down syndrome: single centre experience of thirteen years and review of the literature. Turk J Pediatr 2019; 61: 664-670. Neonates with Down syndrome (DS) may have hematological a...
Hematologic Diseases Infant Child, Preschool Child Blood Cell Count Down Syndrome Logistic Models Follow-Up Studies Infant, Newborn Risk Factors Male Humans Retrospective Studies Female
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