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. Allica...

Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...

more often patients refer for genetic counseling, without definite diagnosis. mostly people and some doctor! have the impression the all muscular dystrophy affected by boys but is carried by girles. more often review of medical history of theses patients resolved this finding different clinical (neurologists), physiotherapist (ncv,emg) and pathologists diagnosis and also negative result molecul...

Individuals who are at risk because of their family history or concerned about the possibility of having an affected child based any reasons are seeking solution approaches. Nowadays genetic counseling offers hope to prevent from suffering some genetic diseases. Advances in genetics diagnosis testing have played effective role in this regards. Interestingly, Preimplantation Genetic Testing woul...

organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.three approaches to prenatal diagnosis may be possible, including measur...