Hacettepe University Faculty of Medicine
Department of Child Health and Diseases
Diagnosis, treatment and follow up of common pediatric genetic diseases are performed in the department. Service is not offered for only pediatric patients, but also for adults within the department. Since the most important thing in this field is to prevent diseases, prenatal diagnosis in the department. Diagnostic analysis is performed by using cytogenetics, molecular cytogenetics and molecular genetics methods. Thereby, diagnoses of chromosomal abnormalities, certain single gene disorders, congenital anomalies, multifactorial diseases and certain syndromes can be made. Based upon this diagnosis, genetic consultancy services of the courses of diseases, treatment methods, the risks of recurrence and fetal diagnosis in following pregnancies of genetic diseases are provided.
Chromosome analyses of blood, bone marrow, cord blood, and tissue samples taken from patients and amniotic fluid samples taken from pregnant women are performed in the Cytogenetic Laboratory. Chromosome imaging system of the last technology is used in the laboratory.DNA analyses are performed in the Molecular Genetics Laboratory which is equipped with devices that allow diagnosis of many genetic diseases and detection of disease susceptibilities.
As genetic diseases are common in the society and usually genetic, they have the potential to affect not only the patient, but also the next generations. Recent rapid developments in genetics demonstrate that almost all diseases have underlying genetic basis. Genetic diseases can be examined in three main groups. These are chromosomal diseases, single gene disorders and multifactorial genetic diseases and multi-factorial genetic diseases.
The human DNA is formed of 46 chromosomes, and one half of these chromosomes come from the mother, and the other half from the father. Chromosomes are the structures that determine characteristics contributed from mother and father and include the genes that play role in practicing all functions of the body.
Numerical or structural chromosome abnormalities cause various diseases.Chromosomal diseases are a group of diseases that can cause congenital defects in several organs such as head and neck region, brain, digestive system, circulatory and respiratory systems, and mental and growth retardations. There is not a treatment method known yet for a considerable part of chromosomal diseases. This situation causes the disease to continue life-long, and to pose material and moral problems for the family and the society. Down syndrome is the most common chromosomal abnormality in society. Physical and mental developments of children with Down syndrome are below the average level of peers, and they often have congenital heart disease, structural defects in digestive systems and urinary tracts. While the structural disorders can be recovered with surgical methods, there has not been a treatment to destroy the disease totally.
It is aimed to help patients maintain their lives under best conditions as well as to establish prenatal diagnosis to prevent birth of unhealthy individuals. Certain screening tests are performed to detect pregnant women who have risk of giving birth to infants with chromosomal abnormalities. Cytogenetic analysis methods are recommended to pregnant women who are under risk in order to determine chromosomal abnormalities.
Tests Performed in our Department
Peripheral Blood Chromosome Analysis
It is a method used in diagnoses of chromosomal abnormalities. Required analysis in case of suspicious chromosomal abnormality is listed below.
Multiple congenital physical disorders
Mild structural changes
Mental retardation with unexplained cause
Growth and development retardations
Recurrent miscarriages and infertility
Amenorrhea or early menopause
Routinely GTG banding method is used in chromosome analysis; however different banding and staining methods can be applied in accordance with the characteristic of the disease.
The test is performed on blood samples of patients who are considered to be tested after the examinations are carried out. For blood collection, it is not necessary for the patient to fast. 15-20 days are required to conclude the test. The result may be followed by telephone (+90 (312) 305 11 73) and can be sent to the patients out of Ankara by fax, when requested.
Bone Marrow Chromosome Analysis
It is a diagnostic method usually used in diseases such as leukemia and myelodysplastic syndrome. The chromosome analysis can be performed as long as the patient's bone marrow sample is delivered to the department in an injector which is wetted with heparin. However, the department should be notified in advance for the required preparations to be made. Only the samples of patients who are examined and tested at Hacettepe University Hospitals are accepted, due to the current capacity of the laboratory.
Amniotic Fluid Chromosome Analysis
According to the result of Amniotic Fluid Chromosome Analysis it can be %100 stated that whether the fetus has a chromosomal abnormality or not. In order to make an analysis the sample of amniotic fluid in which the cells of unborn baby exist should be taken. The procedure is called amniosynthesis.
Required conditions in order to do Amniotic Fluid Chromosome Analysis in prenatal diagnosis are as follows.
The mother to be over the age of 35
To have a child with chromosomal abnormality earlier
One of the would-be parents carries a balanced chromosomal abnormality
Abnormal ultrasonographic symptoms exist in the baby
Maternal serum indicators to indicate the increased risk
The mother to have miscarriages more than two
Amniosynthesis is optimally performed between the 16 and 20 weeks of pregnancy. Approximately 15- 20 ml fluid is sufficient in the stated pregnancy weeks. Taken fluid should be delivered to the laboratory at room temperature within latest 12 hours in sterile conditions. Under normal conditions, the fluid taken is straw yellow and clear, the analysis grows difficult in unclear and bloody fluid and the risk of inefficiency exists. Although the diagnostic value of amniosynthesis is high, it has certain risks. Though the child is healthy, there is a risk of miscarriage, bleeding and infection of approximately 0.3-0.5% depending on the procedure.
The test is resulted within almost two weeks. The results can be followed by dialing the telephone number +90 (312) 305 11 73, after 16:00 on working days. If reports are requested after issued, it can be sent to the patients out of Ankara by fax.
Outpatient clinic appointments are scheduled by dialing 444 4 444.
While patients under 18 should be consulted by General Pediatrics, adult patients should be consulted by any department.
Department of Genetics is located on 5'th floor of Hacettepe İhsan Doğramacı Children's Hospital. The department can be reached easily by taking the elevator on the left after entering the hospital through door 1, up to 5th floor. Please do not apply any other departments for genetic analysis to be performed. Only Amniotic Fluid Chromosome Analysis is performed in Department of Gynecology and Obstetrics.
+90 (312) 305 11 73
+90 (312) 305 11 75