New genetic screening programs for expectant mothers in different age groups have been developed as part of the 2014 Health Reform Plan, and the mandatory services will be provided soon by both state-run and private medical centers.
Dr Ashraf Samavat, head of the Genetic Office at the Health Ministry, elaborating on the program said, “Accordingly, a pregnant woman will receive prenatal genetic screening services to evaluate and prevent risks of congenital disorders in her unborn baby. The mandatory testing will be added to the existing health package for pregnant women,” ISNA reported.
Currently, healthcare providers recommend only some mothers-to-be to undergo genetic testing for Down syndrome, but after implementation of the new plan, all pregnant women should be compulsorily screened. Genetic screening will help pregnant women know their chances of having a baby with Down syndrome. The testing is free of charge, she said, noting that at present a lot of expectant mothers “don’t get screened when in fact they need to.”
Screening tests will be conducted through blood samples and ultrasound procedures to assess the unborn child’s chances of having chromosomal problems, like in the case of Down syndrome. Genetic testing will more accurately determine the baby’s chances of such disorders.
Samavat said screening of infants for inherited disorders will also be enhanced. At present, infants are only tested for Phenylketonuria (PKU), a metabolic disorder, after birth while they need to be screened for more inherited diseases.
“During the past three years, testing in 29 inherited diseases in infants was developed,” she said.
In April, a comprehensive ‘Data Registration System’ was designed for the first time in the country where all data on infants diagnosed with metabolic disorders as well as dietary products they require, is registered. The system was developed to help the ministry to better plan infant formula imports.
Since 2007, a plan to identify patients with metabolic disorders including PKU was developed and implemented in the country. Now information about all patients born after 2007 has been registered in the system and the measure will facilitate accurate and timely supply of products for patients, by the Food and Drug Administration.
Some infants with severe diseases like PKU, a genetic condition requiring lifelong management, and Maple syrup urine disease (MSUD), a rare inherited metabolic disorder, should use different formulas and other essential products instead of regular foods or breast milk. As an example, infants with PKU should consume PKU formula which does not contain any phenylalanine.
Metabolic diseases, specifically PKU and MSUD, are serious disorders that are life-threatening unless addressed promptly. Careful monitoring and adherence to dietary restrictions are essential.
When a strict diet is initiated early and maintained well, affected infants and children can expect normal development and a normal life span. It is also necessary to control blood Phe (phenylalanine) levels every day. Treatment should start at birth and continue for life.
Genetic Metabolic Disorders High
The prevalence of inherited metabolic diseases in Iran is five times higher than the global rate, according to metabolism specialist and premarital genetic counselor, Dr Shahla Farshidi. “The global prevalence of inherited metabolic diseases is 1 per 5,000 births, while the figure is 1 per 1000 births in Iran.”
The high rate of consanguineous marriages is the main reason for the problem. “So far, more than 500 different metabolic diseases have been identified globally and unfortunately most of them are prevalent in Iran,” she added.
Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with such disorders have a defective gene that results in an enzyme deficiency.
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