Browsing Genetic Counselling by Subject "Qatar"
Now showing items 1-3 of 3
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Exploring the Genetic Causes of Non-syndromic Retinal Dystrophies in Qatar
(2023 , Professional Masters Project)Background. Non-syndromic retinal dystrophies (RDs) are a set of degenerative retinal diseases that vary clinically and genetically. RDs comprise several overlapping disorders such as Leber congenital amaurosis (LCA) and ... -
PRENATAL WHOLE EXOME SEQUENCING OF FETAL SONOGRAPHIC ABNORMALITIES IN QATAR: DIAGNOSTIC YIELD AND GENETIC FINDINGS
(2024 , Professional Masters Project)Background: Fetal sonographic abnormalities at birth is estimated to be 2-3% of the global prevalence and are responsible for approximately 17%-42% of all perinatal deaths. Prenatal karyotype (KT) and chromosomal microarray ... -
QATAR NATIONAL EXPANDED METABOLIC NEWBORN SCREENING PROGRAM: INCIDENCE AND OUTCOMES
(2024 , Professional Masters Project)Background: Newborn screening (NBS) is an essential public health strategy that aims to detect and diagnose inborn errors of metabolism (IEMs) in infants shortly after birth, typically through a minimally invasive heel ...