A recently published report in The Lancet has stated that genetic testing can improve the diagnosis of abnormalities in infants by 10%. Though ultrasonography is routinely used in the detection of fetal abnormalities, genetic testing can help in the identification of a number of abnormalities that might not be detected until birth or even after birth. The Prenatal Assessment of Genomes and Exomes (PAGE) study conducted Whole Genome Sequencing of 610 pregnancies with known abnormalities and helped not only to identify the root cause of the abnormalities observed in standard tests but also in providing a new diagnosis in 52 out of the 610 pregnancies.
The researchers claim that genetic testing may provide parents and HCPs with a clearer idea about what lies ahead which can facilitate the management or decision-making process. Source: News Medical Lifesciences
