Objective: Studies showing the efficacy and accuracy of chromosomal microarray analysis (CMA) in prenatal diagnosis may position it as a first-tier prenatal test. This study seeks to characterize the practices and attitudes of North American prenatal genetic counselors regarding CMA.
Method: Genetic counselors (N = 196) in Canada and the USA responded to an anonymous online survey.
Objective: To evaluate the association between the cystic fibrosis (CF) genotype and the rate of diabetes complicating pregnancy.
Methods: We conducted a retrospective cohort analysis of all pregnant patients with CF from 1972-2011 at a single institution. Patients who were homozygous for the ΔF508 mutation were compared with patients who were heterozygous for the ΔF508 mutation.
22q11.2 Deletion Syndrome (22q11.2DS) is a common microdeletion syndrome with multisystem features.
View Article and Find Full Text PDF