objective: pre-natal diagnosis is the most effected way to prevent genetic diseases in a society. the aim of this research was to show the prevention level of the birth of the children with major thalassemia disorder and the demographic condition of the people referring to the shahid dastgheib genetic center in shiraz for the pre natal diagnosis. materials and methods: the present research was ...

Objective: To provide family practitioners, obstetricians, and geneticists with guidelines and recommendations for prenatal diagnosis. Options: These guidelines apply to non-invasive screening techniques (including maternal serum screening and ultrasound) and to invasive techniques (including amniocentesis and chorionic villus sampling). Outcomes: Improved prenatal diagnosis of congenital abnor...

First-trimester prenatal diagnosis was undertaken by chorionic villus DNA analysis in two unrelated families with the inherited glycolytic disorder triosephosphate isomerase (TPI) deficiency. The propositus in each family was shown to be homozygous for a missense mutation (GAG + GAC) at codon 104 of the TPI gene. In the first case the fetus was heterozygous for the codon 104 mutation and therefore

The debate as to the pathogenesis of constriction band syndrome began with Hippocrates and continues today. The exogenous theory attributes the condition to entanglement of the fetus in the amniotic remnants following premature rupture of the amnion, which is in contrast to the endogenous, or genetic, mechanism.A case of constriction band syndrome in the setting of in vitro fertilization, where...

We report a case of Miller-Dieker syndrome (MDS) owing to an unbalanced rearrangement of a familial pericentric inversion of chromosome 17 (inv(17) (p13.3q25.1)). In addition to lissencephaly and the facial features of MDS, the affected child had other congenital malformations consistent with distal 17q duplication. Initial cytogenetic analysis failed to show any abnormality and fluorescence in...