Edwards Syndrome Research Paper

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Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 18 . Many par ts of the body are affected. Babies are often born small and have heart defects. Othe r features include a small head, small jaw, clenched fists with overlapping fingers, and severe intel lec tual disability.
Most cases of Edwards syndrome occur due to problems during the formation of the reproductive cells or during early development. The rate of disease increases with the mother's age. Rarely cases may be inherited from a person 's parents. Occasionally not all cells have the extra chromosome, known as mosaic trisomy, and symptom s in these cases may be less severe. [2] Ultrasound can increase suspicion for the condition, whic h can be confirmed by amniocentesis.[1] …show more content…
There is an error in the division of cells, and the extra chromosom e is either in the egg cell produced by the mother or in the sperm cell produced by the father.
As this ha ppens randomly, it' s extremely unlikely for parents to have more than one pregnancy affected by Edw ards' syndrom e.
The chance of having a bab y with Edwards' syndrome increases with the mother's age Currently, most cases in the developed world are diagnosed antenatally based on screening by maternal age, mat ernal seru m marker screening, or detection of sonographic abnormalities during second or third trime ster. Antenatal diagnosis of trisomy 18 leads to termination of pregnancy in 86% of cases.
The most common soft sonographic markers detected in late first or early second trimester are increased nuchal translucency thickness and a bsence or hypoplasia of the nasal bone, identifying two thirds of cases. The detection rate is incr eased further if reversed flow in ductus venosus and tricuspid regurgitation are a ssessed as

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