Prenatal Diagnosis, Sampling of Chorionic Villi

Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allication of CVS  1.Cytogenetics investigation (maternal age, presence of chromosome abnormality in either parents or previous pregnancy, fragile-X, past history of abortion caused by chromosomal defect, sex determination, etc.). 2. Metabolic Disorders: Sphingolipidoses, Mucopolysaccharidoses, Aminoacidopathies, etc. 3.DNA Analysis: Sex-determination, centronuclear my,)pathy, Haemoglobinopathies, Sickell cell anaemia, /3-Thalassemia, etc. 4.Congenital Leukaemia 5.AIDS. 6.Neural tube defects (Spina bifida, Meningomyelocele, Anencephalus). Finally, Genetic counsell• ing will be advised according to the risk of probability for different defects.