Pediatric Genetics

Pediatric Genetics


In our Group Florence Nightingale Hospitals Pediatric Genetic Diseases Department, after specializing in pediatric health and diseases, our physicians who have specialized in clinical genetics provides service. In this section, diseases that occur due to genetic reasons are diagnosed in childhood age groups, starting from the prenatal period. After the diagnosis is made, if there is treatment needed, treatment is given, otherwise the patient is monitored according to the planned follow-up schemes, the new  treatments that are developed are  followed, genetic counseling is given to families to protect them from hereditary genetic diseases and to bring healthy individuals to the world.

Areas of interest
  • Those who have a disease of unknown cause and  are  not diagnosed
  • Those with familial diseases
  • Those with autism spectrum disorder
  • Congenital anomalies, such as congenital heart disease, spina bifida
  • Those with intellectual disabilities
  • Genetic syndromes (such as Down syndrome, DiGeorge, Neurofibromatosis, Williams)

Genetic counseling, provides information on diseases that can affect people from different generations of the same family and investigates whether unexplained conditions may be due to a genetic cause.

Thanks to the tests and applications carried out in our Pediatric Genetic Diseases Department;

 Having healthy children with prenatal (before born) diagnosis and bringing healthy individuals to the society
 Early diagnosis of conditions that may arise in advanced ages
 Diagnosis of familial (hereditary) cancers and their early detection and prevention
 It is aimed to determine the clinical phenotype and prognosis of the diseases.
Today, the science of genetics has advanced a lot. Many diseases that could not be diagnosed in the past are diagnosed by genetic tests without the need for many tests. For example, cystic fibrosis, congenital adrenal hyperplasia, neurofibromatosis and marphansyndroma are some of these diseases.

After the diagnosis is made by genetic tests, the follow-up will be done and other risk factors, if any, will be determined. If treatment is possible, the patient is directed to treatment.

Who is Genetic Counseling Required for?
Genetic counseling is required if:

 Mothers who are 35 years of age or older at the time of pregnancy
 Chromosomal abnormalities (example: Downsendroma) in a previous child

Pediatric Genetics
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