The process of prenatal counseling includes detailed records of medical history (individual and family) of the parents. It is recommended to be performed before fertilization or before the first weeks of pregnancy, so that proper prenatal planning is in place. Prenatal counseling helps you find out if there is an increased risk of carrying a fetus with a genetic disorder or abnormality and then selecting the appropriate prenatal examinations for you. It also has the potential to identify couples who are more likely to have a child with a congenital abnormality or genetic disorder. These individuals are informed for the nature of the condition, its inheritance, and the likelihood of it occurring in the current or other pregnancy. Prenatal screening ensures early diagnosis of chromosomal and genetic abnormalities as well as conditions that can be treated either endometrially or postnatally. It is an important and extremely difficult examination carried out by a qualified and certified physician. The usual checkup we suggest for Genetic Diseases proof is:
- Blood test investigation for Hemoglobin Electrophoresis (Thalassemia)
Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production. Symptoms depend on the type and can vary from none to severe. There are two main types, alpha thalassemia and beta thalassemia.
- Blood test investigation for Cystic Fibrosis 100%
Cystic fibrosis is an inherited disorder caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. If two copies of the defective CF gene will be identified, one copy from each parent, then the child is ill. Cystic fibrosis is the most common lethal genetic disease in white populations. Cystic fibrosis is not contagious but hereditary. The birth frequency of affected children in Greece is 1/2500. If two carries of the CF get married, the possibility for their children to get infected is 1 to 4 or 25%. Carriers are healthy, without any clinical symptoms, while the genome is quite bigger and has many possibilities for mutations. Cystic fibrosis signs and symptoms vary, depending on the severity of the disease.
- Blood Karyotype
The genetic material that is transferred from generation to generation is composed by structures called chromosomes. Human beings have approximately 23.000 genes on 46 chromosomes. In somatic cells, chromosomes appear as 23 homologous pairs to form the diploid number of 46. There are 22 pairs of matching chromosomes, the autosomes and one pair of sex chromosomes. Throughout the blood test investigation of karyotyping, it is able to identify genetic problems and examine chromosomes in a sample of cells, distinguishing the cause of disorder or disease. The classic Karyotype is not able to detect very small deficiencies (micro-deficiencies, microdeletions) and very small duplications (micro-duplications). This possibility is provided by the Extended Control (karyotype pair 100%).