Neonatal genetic disease screening

Newborn genetic screening is based on SNP-array and sequencing platforms to detect neonatal copy number variation (CNV) and common high-prevalence single-gene disease.

Background

Birth defects are those that exist at birth and that human embryos have recognizable structural or functional abnormalities in shape or body. Birth defects are a general term for three diseases: congenital, hereditary, and birth injury. Common are
1. Abnormal morphology (congenital malformation)
   Anencephaly, spina bifida, rabbit lips, abnormal limbs, conjoined twins
2. Physiological abnormalities
   Congenital mental retardation, deafness, and color blindness
3. Metabolic defects
   Phenylketonuria