Empowering the neurogenetic testing services in developing countries: use the basic skills with speed and scale.

Abstract

Although genetic and inherited disorders are individually rare, they collectively affect about one in 17 individuals in Western population 1 . Genetic abnormalities at conception are more common and many of them become incompatible for embryo survival. In fact, chromosome abnormalities in embryo account for about 50% first trimester pregnancy losses. Most of these genetic abnormalities are numerical chromosome aberrations and recurrence risk of numerical chromosome abnormalities in subsequent pregnancy is low. However, neurological developmental abnormality among survivals with chromosomal aberrations, such as trisomy 21 (Down syndrome), is almost universal.