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Recognition of the Most Common Trisomies through Automated Identification of Abnormal Metaphase Chromosome Cells
Published in Mohamed Lahby, Utku Kose, Akash Kumar Bhoi, Explainable Artificial Intelligence for Smart Cities, 2021
Reem Bashmail, Muna Al-Kharraz, Lamiaa A. Elrefaei, Wadee Alhalabi, Mai Fadel
Although many efforts were done to develop automated karyotyping systems, they still need substantial human intervention. That is what motivated us to work on developing an automatic identification system to recognize the most common trisomies by determining if there is an extra copy of (13, 18, 21, X, and Y) classes. A trisomy is an abnormality type where, instead of two, there are three copies of a particular chromosome. The most common chromosomes trisomy types in humans that survive to birth are trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome). Among them, trisomy 18 and trisomy 21 are the most common. With trisomy 13, in rare cases, a baby can survive, giving rise to Patau syndrome. Autosomal trisomy can be associated with intellectual disability, birth defects, and shortened life expectancy (Shoblak & Baraka, 2015). Trisomy of the sex chromosomes, compared to the trisomy of the autosomal chromosomes, ordinarily has less intense consequences. People may show few or no symptoms and have an ordinary life. It includes XXX syndrome (Triple X syndrome), XXY syndrome (Klinefelter syndrome), and XYY syndrome (Jacobs syndrome).
An Ethical Pathway to Quality of Life in Critically Ill Newborns
Published in The New Bioethics, 2021
Agustín Silberberg, María Soledad Paladino, José Manuel Moreno-Villares
The number of preterm babies is increasing. For example, in the United States, rates of overall preterm birth increased from 10.6% in 1990 to a high of 12.8% of all live births in 2006 (Barfield 2018). The number of neonates with chromosomal abnormalities is also high. Babies born with trisomy 13 and trisomy 18 account for 1 in every 4000–10,000 live births in Europe (Euro Peristat Project with Eurocat 2010). In the United States, approximately 1500 infants are born with myelomeningocele each year (Mai et al.2019).