Since the promulgation of the Sindh Newborn Screening Act 2013, around 75,000 children have been screened free or charge for Congenital Hypothyroidism in Sindh during last one and half years.
Of these children, 45 were born with hypothyroidism. Due to timely diagnosis and treatment, these children were protected from becoming mentally retarded and suffering from other life-long conditions, experts and officials said on Friday.
“Congenital hypothyroidism is a condition when a newborn infant is born without the ability to make normal amounts of thyroid hormone. The condition occurs in about one in 3,000-4,000 children. It causes impaired neurological function, stunted growth and physical deformities,” said Prof Dr Jamal Raza, newly-appointed executive director of the Sindh Institute of Child Health and Neonatology (SICHN), while talking to The News.
He said the Sindh Assembly had passed the bill in 2013 making it mandatory for all the health facilities in the province to screen the newborns for congenital metabolic disorders, birth defects and other diseases, but implementation on the law started in January 2020 when the screening of newborns for congenital hypothyroidism commenced at the National Institute of Child Health (NICH) Karachi.
“Of the 75,000 children screened by our experts at the NICH, we found 2,200 suspected infants who could have been suffering from the congenital hypothyroidism. By the time we started calling them, we found that 170 had already died, so we managed to approach only 2,030 of them. Unfortunately, only 700 of them responded to our calls and reported for the confirmatory test,” Prof Raza said.
He deplored that due to lack of awareness among parents, around 40 per cent of parents refused to get their children retested for congenital hypothyroidism, arguing that there was nothing wrong with their children. He added that they were now trying to create awareness among parents to get their newborns screened and treated if they were suffering from any congenital, metabolic or hereditary disease.
To a query, Prof Raza said the Sindh government had provided Rs200 million for a three-year project for the mandatory screening of newborns and the team at the NICH was coordinating with the PPHI, Indus Health Network and HIS, which were sending them blood samples of newborns for the mandatory screening for congenital hypothyroidism.
“At the moment, newborns are only being screened for congenital hypothyroidism, but in the days to come, we can screen them for 30-40 different congenital disorders and diseases. The screening for congenital hypothyroidism costs around Rs1,600 to Rs2,700 in the private sector but we are doing it free of charge at the NICH.”
Prof Raza said that under the newborn screening act, the government with the assistance from the National Institute of Child Health and other government agencies, professional societies and non-governmental organisations, should arrange the dissemination of objective and informational and educational materials on newborn screening, and may, by notification in the official gazette, publish such instructions, guidelines or policies as it deemed necessary or appropriate, for the purposes of producing and distributing informational and educational materials.
Similarly, a health practitioner who delivers or assists in the delivery of a newborn should inform the parents or legal guardians of the availability, nature and benefits of newborn screening before the delivery.
“According to this law, newborn screening shall be performed after twenty-four hours of life, but not later than three days from complete delivery of the newborn. A newborn placed in intensive care to ensure his survival shall be exempted from the condition of three days but shall be tested by seven days of age and it shall be the joint responsibility of the parent(s) and the practitioner or other person delivering the newborn to ensure that newborn screening has been performed. An appropriate informational brochure for parents to assist in fulfilling this responsibility shall be made available,” Prof Raza added.
“On the other hand, as per the law, parents or legal guardian may refuse testing on the grounds of religious beliefs, but shall acknowledge in writing their understanding, such refusal, places the newborn at risk for undiagnosed heritable conditions. A copy of refusal documentation shall be made part of the newborn's medical record.”