β-thalassemia is one of the most frequent autosomal recessive diseases that has a high recurrence in people of the Mediterranean zone, the Middle East, India, the Far East, Tropical Africa, and the Caribbean. Parents who are both carriers for β-thalassemia have a 25% danger to give a child with β-thalassemia major, a disorder that requires a longlasting blood transfusion and costly iron-chelation treatment. The most accessible strategies for pre-birth diagnosis are chorionic villus sampling (CVS) somewhere in the range of 11 and 14 weeks and amniocentesis following 15 weeks and both are invasive procedures and cause dangers to the fetus and mother, having a danger of abortion 1 in 100-200 and 1 in 200-400, respectively. The accuracy of these methods is estimated to be 98-99%. Cell-free fetal DNA (cff-DNA) can be found in maternal plasma following 18 days from fertilized egg implantation in Pregnancies after lab conception and resembles extracellular DNA. The discovery of cff-DNA in maternal plasma has led to the evolution of noninvasive prenatal diagnosis. Some genomic loci of cff-DNA show methylated sequences unique in relation to circling maternal DNA, this trademark can be utilized to evaluate and demonstrate the presence of fetal DNA during pregnancy, independent of the sex of the embryo. the two major limitations for non-invasive prenatal diagnosis (NIPND) are the small amount of cff-DNA in maternal blood and its coexistence with maternal free DNA.we study investigations used in the detection of inherited mutation of β-thalassemia in maternal plasma during pregnancy using cell-free fetal DNA and evaluate the diagnostic test performance of cff-DNA for this issue.157
Background: Optical Coherence Tomography (OCT) and visual field (VF) are devices for diagnosis and management of glaucoma. Using both techniques enable us to detect the functional and anatomical changes occur in glaucomatous eyes. Objectives: In this study, we aimed to determine the relationship between optical coherence tomography (OCT) parameters and visual field severity indices computed by standard automated perimetry (SAP) in patients with primary open angle glaucoma and to know the correlation between OCT disc parameter and ganglion cell layer (GCL). Methods:The study included 94 subjects (160 eyes) divided into two groups. Group1 included 54 subjects with primary open angle glaucoma (cases) (92 eyes) Group 2 included 40 healthy non-glaucomatous subjects (controls) (68eyes).OCT disc &macula and VF using standarded automated perimetry were performed for all participants in both groups. Correlations between OCT parameters and VF parameters and between OCT disc parameters and GCL were detected. Area under curve (AUC) was used to detect most important factor to differentiate cases from control. Results: We found strong correlations between MD and each of total , Inferior , Superior p RNFL respectively , PSD is moderately correlated with total ,inferior and superior p RNFL and vertical CDR respectively ,Inferior p RNFL is strongly correlated to inferior GCLcomplex. Regarding the "area under curve (AUC)" : the most important factors to differentiate cases from control are in order: total GCC, followed by inferior GCC, then total p .RNFL.Conclusion : macular scans may be a good alternative to p. RNFL thickness assessment for the detection of glaucoma, we should perform VF test with both macular and p.RNFL scanning in all subjects suspected or known to have glaucoma for better and earlier diagnosis as they improve the sensitivity of glaucoma detection.
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