Describe trisomy 21.
Trisomy 21 is a genetic disorder commonly known as Down syndrome. It is caused by the presence of all or part of an extra 21st chromosome. IT is the most common chromosomal abnormality associated with intellectual disability. One in 730 live births results in trisomy 21. It is seen in all ages, races and socioeconomic levels, but a higher incidence is found with a maternal age older than 35 years. This is associated with the fact that 90% of cases with an extra chromosome 21 originates from the mother. Trisomy 21 is associated with intellectual disability, characteristic facial features, such as slanted eyes and depressed nasal bridge and other health problems, including cardiac defects, intestinal malformations, and etc. …show more content…
The cardiac problems vary from minor defects that respond to medication therapy to major defects that require surgery. The most common defects are atrioventricular septal defect, ventricular septal defect, patent ductus arteriosus, and tetralogy of fallot (Carman, et. al, 2017). Atrioventricular septal defect (ASD) is a passageway or hole in the wall that divides the right atrium from the left atrium. Most children are asymptomatic, however a large defect can cause increased blood flow leading to heart failure. Ventricular septal defect (VSD) is an opening between the right and left ventricular chambers of the heart. It is recommended to repair these larger defects by 2 years old, to prevent the development of pulmonary disease and heart failure (Carman, et. al, 2017). Patent ductus arteriosus occurs when the temporary fetal blood vessel that connects the aorta and the pulmonary artery does not close at birth. The main sign of this is a constant heart murmur (Jacob, 2015). Tetralogy of fallot is a condition that is characterized by several heart defects, including ventricular septal defect, displaced aorta, narrowed pulmonary valve and a thickened right ventricle wall. These newborns are typically cyanotic at birth because the deoxygenated blood bypasses the lungs (Polsdorfer,
Trisomy 21 is a genetic disorder commonly known as Down syndrome. It is caused by the presence of all or part of an extra 21st chromosome. IT is the most common chromosomal abnormality associated with intellectual disability. One in 730 live births results in trisomy 21. It is seen in all ages, races and socioeconomic levels, but a higher incidence is found with a maternal age older than 35 years. This is associated with the fact that 90% of cases with an extra chromosome 21 originates from the mother. Trisomy 21 is associated with intellectual disability, characteristic facial features, such as slanted eyes and depressed nasal bridge and other health problems, including cardiac defects, intestinal malformations, and etc. …show more content…
The cardiac problems vary from minor defects that respond to medication therapy to major defects that require surgery. The most common defects are atrioventricular septal defect, ventricular septal defect, patent ductus arteriosus, and tetralogy of fallot (Carman, et. al, 2017). Atrioventricular septal defect (ASD) is a passageway or hole in the wall that divides the right atrium from the left atrium. Most children are asymptomatic, however a large defect can cause increased blood flow leading to heart failure. Ventricular septal defect (VSD) is an opening between the right and left ventricular chambers of the heart. It is recommended to repair these larger defects by 2 years old, to prevent the development of pulmonary disease and heart failure (Carman, et. al, 2017). Patent ductus arteriosus occurs when the temporary fetal blood vessel that connects the aorta and the pulmonary artery does not close at birth. The main sign of this is a constant heart murmur (Jacob, 2015). Tetralogy of fallot is a condition that is characterized by several heart defects, including ventricular septal defect, displaced aorta, narrowed pulmonary valve and a thickened right ventricle wall. These newborns are typically cyanotic at birth because the deoxygenated blood bypasses the lungs (Polsdorfer,