Newborn Screening

Newborn screening is the process of testing newborn babies for treatable genetic, endocrinologic, metabolic and hematologic diseases. This is also known as inborn error of metabolism (IEM) disorders which are caused when the body is unable to break down certain naturally produced chemicals, which then accumulate in the body and turn toxic. This toxic build-up can lead to slow physical development or brain damage and, in some cases, even death. Most infants with these disorders show no obvious signs, but the build-up can be rapid enough for the condition to become irreversible within a few days of birth.

Each year, at least 4 million babies in the United States are tested for these diseases, and severe disorders are detected in about 5,000 newborns. Since the implementation of the New Born Screening program in 1995 in UAE, 1 out of 1,963 new born is detected with congenital hypothyroidism, 1 out of 14,812 with PKU and 0.06% for sickle cell disease and 0.9% for sickle cell trait.

Importance of Early Detection:

Accurate screening ensures that-

  •    Affected babies are identified quickly.

  •    Cases of disease are not missed.

  •    The number of false-positive results is minimized.

  •    Early treatment will begin that will prevent negative and irreversible health outcomes for affected newborns.

Early diagnosis means that treatment can be started quickly, before the baby becomes sick. If detected early they can be treated, usually by modification of the baby’s diet, and avoiding periods of fasting. If the baby requires a repeat test more information will be given about the specific disorder which is suspected. Without appropriate management, some disorders can cause severe disability or death.