To early detect congenital metabolic diseases at birth, newborn screening is used. Delays in diagnosing and treating congenital metabolic diseases can cause mental and physical problems, such as lack of movement, mental retardation, malnutrition, inability to speak, Down’s syndrome and etc.
The development of tandem mass spectroscopy (MS/MS) as a tool in the diagnosis of metabolic diseases has increased the number of diseases that can be detected with high speed and accuracy. MS/MS does not measure a single substance. Rather, it identifies and measures a set of metabolites.
Analyses on a spot of blood taken from the soles of the baby’s feet on a special filter paper were done by the MS/MS system and which can measure 45-60 different substances and the ratio between them and enough information to detect about Provide 60 metabolic diseases. newborn screening for metabolic diseases has become common in many developed countries, but in our country, due to the costs of the MS/MS technique and the lack of familiarity with it, there are only a limited number of metabolic diseases that do not require MS/MS, such as three hereditary diseases Thyroid, phenylketonuria, and G6PD deficiency are routinely screened at birth. Currently, newborn screening by MS/MS method is being implemented in several provinces such as Tehran, Isfahan and etc.
In other provinces, at the request of the parents or the recommendation of the baby’s doctor, sampling is done and they are sent to the centers specified by the Ministry of Health and Medical Education for testing. In the rest of the cases, the parents of the newborn can go directly to the specified centers to perform the newborn screening test to diagnose about 60 diseases.
Below are some of these centers.
- Erytron laboratory: One of the most advanced laboratories in Isfahan, Erytron Laboratory provides newborn health screenings, cancer screening and prevention, medical and clinical diagnosis services, immunology and immunofluorescence, pathology, and cytopathology.
- Mobtakeran Agah Hadaf
- Children’s growth and development research centre (GDRC): GDRC as one of the approved centers of Tehran University of Medical Sciences in the Children’s Medical Center Hospital started its official activity in 2016 with the aim of improving the quality of growth and development of children in the IRAN, headed by Dr. Ali Rabbani. Currently, this center, having a suitable space and the most up-to-date equipment such as Amino Acid Analyzer, MS-GC, and MS/MS-LC, is trying to cooperate with the national metabolic disease screening program of the MOHME.
- Fajr Genetics and pathobiology laboratory: Fajr Genetics and pathobiology laboratory started its activities and services in the field of medical diagnostic tests in 2001 and in the city of Sari as an independent laboratory complex, and newborn screening test is one of the main services of this center.
- Babol Razi Pathobiology and genetic laboratory: Babol Razi Pathobiology and genetic laboratory were established in 1982 in Babol city in northern Iran. This laboratory is one of the largest laboratories in terms of space and is introduced as one of the pioneers of newborn metabolic screening and diagnosis in Iran.
- Nasl Omid Medical Institute: This institute was established in Tehran province in 2015 due to the essential need for a general and well-equipped center to newborn screen for congenital metabolic diseases.
- Shiraz farzanegan Laboratory: farzanegan Laboratory was established in Shiraz in 2011 with the help of a number of laboratory elites, and with advanced and up-to-date equipment in different parts of the laboratory, it is capable of performing specialized and sub-specialized tests, especially newborn screening.
- Comprehensive Center of Genetics of the South of the country, Shahid Soltani, Shiraz
- Pardis Genetic Counseling Center: Pardis Genetic Counseling Center were established in Mashhad in 1999. This center currently has the ability to provide newborn screening tests for congenital metabolic diseases.