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
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
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