Screening of Common Genetic Disorders in Newborns

Screening of Common Genetic Disorders in Newborns

About 50,000 to 70,000 babies are born with some type of genetic disorder in Iran every year, said Dr. Ashraf Samavat, head of the Genetic Office affiliated to the Health Ministry.
A pilot program to screen infants as well as parents for early detection and treatment of congenital disorders has been initiated.
Under the program, newborns will be screened for common genetic and metabolic disorders such as phenylketonuria (PKU), an inherited inability to metabolize phenylalanine, an amino acid which, if untreated, causes brain and nerve damage, and follow up on health checks of children in different age groups. “Furthermore, parents are tested for chromosomal abnormalities such as Down syndrome during pregnancy,” she said quoted by ISNA.
Samavat said 10 in 1000 infants are born with a congenital disorder caused by parents who carry the same defective genes, yet 50 to 70% of the cases could be diagnosed and treated before pregnancy. Chromosomal abnormality has a rate of 5 per 1000 live births. In sum, as many as 70,000 to 80,000 infants annually are born with a genetic predisposition.
The main area of focus in the new genetic screening program is preventing autosomal recessive disorders such as Thalassemia major and inherited metabolic disorders, the most common genetic health problems in the country, respectively. The conditions occur when both parents carry an abnormal gene and might be triggered by parents who are related.
Samavat added that hematologic genetic disorders, inherited bleeding disorders, neurotic and muscular dystrophies and genetic eye diseases are among other priorities of inherited disease prevention and treatment program.
Additionally, the project covers detecting some severe or even fatal diseases which in many cases are hereditary and begin to develop at an early age but are not diagnosed until adulthood such as Premature Coronary Artery disease, breast cancer and colorectal cancer.
She noted that screening for genetic disorders in infants as well as couples before and after marriage will help the Genetic Office to identify those with a genetic predisposition and give them appropriate healthcare advice at counseling centers.
“The goal is to use the existing resources to the best possible extent for the large-scale success of the Health Reform Plan launched in May 2014.”

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