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PRENATAL WHOLE EXOME SEQUENCING OF FETAL SONOGRAPHIC ABNORMALITIES IN QATAR: DIAGNOSTIC YIELD AND GENETIC FINDINGS
(Genetic Counseling, 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
(Genetic Counseling, 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 ...