Dr. Sanjida Ahmed (Director: Research) Eastern Biotech & Life Sciences DuBiotech Park, Dubai UAE Phone: 00971 4 3692061 Email: [email_address] www.easternbiotech.com Value of Metabolic Disorder Screening for Newborns
Newborn screening is the process of testing newborn babies for treatable genetic, endocrinologic, metabolic and hematologic diseases.
Screening is done to assist healthcare providers in detecting the existence of a number of treatable but clinically undiagnosed disorders, before symptoms occur, so that the most beneficial outcome can be achieved.
Diagnosis of Metabolic Disorders is Challenging
The episodic nature of metabolic illness
The wide range of clinical symptoms that are associated with more common conditions like infection or sepsis.
The low incidence of these disorders
The consequent lack of experience among the pediatric sub-specialties
It is important for the parents to know if the baby is a CF carrier or has a hemoglobinopathy trait so they can:
tell their child later in life. His or her future partner can choose to have testing to identify the
couple’s chances of having a baby with CF, or a clinically significant hemoglobinopathy.
If the baby is a CF carrier or has a hemoglobinopathy trait, one parent is almost certainly a carrier. There is a small risk that both parents are carriers which would have implications for future pregnancies.
Resources are available to assist in counseling families with regards to these issues.
Critical steps for effective Newborn Screening
Screening must be done soon after the birth (within 2 weeks)
Initial follow-up of an abnormal value and repeat analysis needs to be done
Confirmatory testing is required in case of repeated abnormal value
Prompt referral of patients with confirmed or suspected disorders