Child Genetics

What is the Department of Pediatric Genetic Diseases and What Tests and Applications Are Performed?

The Department of Pediatric Genetics is a specialized subspecialty of pediatric medicine. This department deals with the diagnosis, treatment, management and provision of genetic counseling services for genetically based diseases in children. According to the 2023 report of the American College of Medical Genetics and Genomics (ACMG), genetic factors are responsible for approximately 30% of childhood diseases.

This department is an indispensable part of pediatric health services. Early diagnosis and intervention are critical in the management of genetic diseases. With developing technology and increasing knowledge, diagnostic and treatment methods in this field are constantly advancing.

About the Department of Pediatric Genetic Diseases

The Department of Pediatric Genetic Diseases is a specialized area of pediatric medicine that deals with the diagnosis, treatment and management of genetically based diseases. This department plays a critical role in the early diagnosis and intervention of hereditary diseases in children. According to the World Health Organization (WHO) 2022 report, it is estimated that approximately 8 million babies born each year worldwide have serious genetic or partially genetic birth defects.

Genetic diseases can be seen in a wide spectrum, from monogenic diseases resulting from a single gene mutation to polygenic diseases resulting from the interaction of more than one gene.

Who is a Pediatric Genetic Diseases Specialist and What Are Their Duties?

A pediatric genetic disease specialist is a physician who has received special training in pediatrics and medical genetics. Specialists in this field specialize in the diagnosis, genetic counseling, risk assessment and management of genetic diseases.

• Diagnosing genetic diseases
• Interpreting genetic tests
• Providing genetic counseling to families
• Creating and managing treatment plans
• Contributing to genetic research

What Diseases Are Included in Pediatric Genetic Diseases?

The Pediatric Genetic Diseases section covers a wide range of diseases.

• Chromosomal disorders (Down syndrome, Turner syndrome)
• Single gene diseases (Cystic fibrosis, Duchenne muscular dystrophy)
• Multifactorial diseases (Congenital heart diseases, cleft lip/palate)
• Mitochondrial diseases
• Metabolic diseases (Phenylketonuria, Gaucher disease)

What are the Tests and Practices Performed in Pediatric Genetic Diseases?

Various tests and applications are performed in the Pediatric Genetic Diseases department:

• Prenatal diagnosis: This test aims to detect possible genetic diseases by examining the genetic structure of the fetus while it is still in the womb. It is especially important in pregnancies with a family history of genetic disease or in older pregnancies.
• Karyotype analysis: This test involves examining the chromosomes in the nucleus of cells under a microscope. It is used to detect chromosomal abnormalities such as Down syndrome and Turner syndrome. It can also show major changes in chromosome structure.
• FISH (Fluorescence In Situ Hybridization): This method is used to quickly detect certain genetic disorders. Using fluorescently labeled DNA probes, abnormalities in specific chromosome regions or changes in the number of gene copies can be determined.
• Microarray: This technique can detect very small losses or gains (copy number variations) in the genome. It provides results at much higher resolution than traditional karyotype analysis and is used to investigate genetic causes of conditions such as autism spectrum disorders and developmental delays.
• Next Generation Sequencing (NGS): This advanced technology can analyze large sections or all of DNA quickly and in detail. It is used in the diagnosis of single-gene disorders, complex genetic disorders, and rare diseases. It can also be used for cancer risk assessment and pharmacogenetic analysis.
• Biochemical tests: These tests measure the levels of various metabolites in the body. For example, they can show certain enzyme deficiencies or abnormal accumulations of metabolites in blood or urine samples.

What Methods Are Used in the Treatment of Pediatric Genetic Diseases?

Methods used to treat genetic diseases include:

• Gene therapy: Correcting or replacing damaged genes.
• Enzyme replacement therapy: Replacing missing enzymes.
• Stem cell transplantation: Replacing diseased cells with healthy ones.
• Drug treatments: Managing symptoms or slowing the progression of the disease.
• Diet management: It is especially important in metabolic diseases.

When Should You Go to the Pediatric Genetic Diseases Department?

There may be various situations to apply to the Pediatric Genetic Diseases department. First of all, if there is a history of genetic disease in the family, this indicates that the child may also be at risk and definitely requires a specialist evaluation. If developmental delays are observed in the child, this may also be a sign of a genetic disorder and an examination should be performed. Since the presence of congenital abnormalities may be a sign of a genetic syndrome, it is important to apply to the department in this case. In cases where families experience recurrent miscarriages, they may need to be referred to the genetics department to investigate the underlying genetic factors.

If a metabolic disease is suspected, it is important to perform a detailed genetic examination, as most of these diseases are genetic in origin. Finally, in cases of rare or unexplained symptoms, it is recommended to consult the Pediatric Genetic Diseases Department to understand whether these symptoms are caused by a genetic disorder. In the presence of any of these conditions, an expert evaluation is critical for early diagnosis and intervention.