Neonatal Genetics

DNA is made up of millions of small chemicals called bases. These are four types A, C, T and G. Every single gene is a section of DNA made up of a sequence of As, Cs, Ts and Gs.

Through Genetic testing few syndromes can be identified during pregnancy. The cell-free DNA in a sample of a woman's blood can be screened for Down syndrome, Patau syndrome (trisomy 13), Edwards syndrome, and problems with the number of sex chromosomes. This can be done starting at 10 weeks of pregnancy and results get in a week, whereas Newborn genetic screening identifies treatable genetic disorders in newborns. Early intervention to treat these disorders can eliminate or reduce symptoms that might otherwise cause a lifetime of disability.

The most common newborn screening tests include hypothyrodism (underactivity of the thyroid gland), PKU (phenylketonuria), galactosemia, and sickle cell disease. This test is generally performed when a baby is 24 to 48 hours old and should be tested in this time period only because few conditions may go undetected if the blood sample is drawn before 24 hours of age.