Hamad Medical Corporation’s (HMC) National Newborn Screening Unit relocated to the Outpatient Department at the Women’s Wellness and Research Center this week.
The Unit, which opened at Women’s Hospital in 2003, provides screening for all babies born in Qatar. To date, the newborn heel prick test has been administered to over 250,000 babies across the country. The screening quickly identifies specific harmful or potentially fatal disorders that aren't otherwise apparent at birth.
Dr. Hilal Al Rifai, Director of the Qatar Newborn Screening Program and Medical Director of Women’s Hospital stressed the importance of parents consenting to the newborn heel prick test that is routinely performed at every birthing facility in Qatar 36 to 72 hours after a baby’s birth.
“Although a baby testing positive for a potentially fatal or disabling metabolic and endocrine diseases is not that common, it does occur. Recently, one of our babies screened positive for Primary Congenital Hypothyroidism (CH), a condition that affects the body’s thyroid gland,” said Dr. Al Rifai.
Dr. Al Rifai explained that babies with CH often show no symptoms of the condition; however, left undiagnosed and untreated, CH can result in growth failure and permanent intellectual disability.
“In this case, by detecting the disorder early, we were able to avoid irreversible damage to the baby’s health and well-being,” said Dr. Al Rifai. “A lifelong daily dose of thyroid hormone (thyroxine) has been prescribed to replace the deficiency and has proven to have a long-term positive outcome for this child.”
According to Dr. Ghassan Abdoh, Senior Consultant of Pediatric Neonatology and Head of HMC’s Newborn Screening Unit, since its opening, the Qatar Newborn Screening Unit has provided early diagnosis and treatment for over 700 babies that have tested positive for a disease or disorder. The unit has reported a 98 percent survival rate of babies successfully treated for potentially fatal or disabling diseases.
“Once we are certain a baby has tested positive, we initiate contact with his or her parents so we can explain the process for their baby’s care,” said Dr. Abdoh. “We know that hearing this news will be very difficult for a parent, so we ensure follow-up care involves multiple face-to-face visits in the clinic.”
The Newborn Screening Program is provided free of charge to all babies delivered in Qatar and currently screens for over 30 diseases or disorders. The majority of the conditions screened for are autosomal recessive, which means both of the affected child’s parents are carriers of the gene that causes the disorder. This can be common in close blood marriages and the ‘carrier’ parents may be in good health and have no visible signs or symptoms of the disorder.