Diagnostics for Genetically Inherited Disorders: From Cytogenetics to Genomics Technologies- A Review

Abstract

The frequent occurrence of chromosomal abnormalities in humans is one of the main factors responsible for the birth of children with disabilities. More than 7.6 million infants per year are diagnosed with severe genetic abnormalities. An increase in genetic abnormalities among children may be attributed to women suffering from hormonal disorders. Genetic malformations can either be hereditary or spontaneous due to the exposure of germinal cells to toxins and mutagens or even oxidative stress. Most genetic disorders lack proper treatment. However, proper counseling, therapy, and medication can minimize its impact. Early diagnosis of abnormalities in the fetus will benefit the parents in options assessment. Fetal chromosomal analysis is the best option for an appropriate genetic disorder diagnosis. The latest and emerging technologies involved in detecting chromosomal abnormalities at the prenatal stage are discussed in this review. Significant developments in prenatal diagnostics and the best globally available economical options were also discussed.