Nyc pandoras box7/2/2023 ![]() The most common heterozygous mutations were sickle cell trait (25.6%), thalassemia (alpha and/or beta) trait (14.2%), factor XI deficiency (4.7%), dystrophic epidermolysis bullosa (4.2%), and Alport syndrome (4.1%). Of these carriers, 132 of 168 (78.6%) patients underwent genetic counseling. Of those patients, 143 (85%) were carriers of autosomal recessive traits (Figure 1), whereas 22 of 168 (13%) patients were carriers of X-linked conditions (Figure 2) and 3 of 168 (2%) patients carried both autosomal recessive traits and X-linked conditions. Of these, 156 (93%) were pregnant and 12 (7%) were preconception. In total, 168 of 1184 (14.2%) patients were identified as carriers of mutations with a potential for maternal phenotypic expression. Through our EMRs, we evaluated the rates of healthcare uptake among these patients for at least 1 year after delivery. The genetic counseling summary was placed in the electronic medical records (EMRs) so that the primary provider could view the findings. In addition, patients who were carriers for factor XI deficiency, Bernard Soulier syndrome, ataxia telangectesia, fumarase deficiency, Nijmegen breakage syndrome, Duchenne muscular dystrophy, and familial hypercholesterolemia were advised to seek specialized healthcare pertaining to their clinical risk. Patients found to carry mutations with the potential for maternal phenotypic expression were contacted by genetic counselors regarding their clinical risks. Pretest counseling was performed by the ordering provider. ![]() We aimed to evaluate the prevalence of variants that have a potential for maternal phenotypic expression and whether identification of specific variants prompted patients to pursue further care in our health system, namely comprehensive genetic counseling and further healthcare consults when recommended.Īn institutional review board-approved descriptive retrospective cohort study was performed in a New York City academic medical center at which reproductive aged women were offered universal ECS from 2018 to 2021 by their provider, inclusive of obstetrician-gynecologists, maternal-fetal medicine physicians, and genetic counselors. Another 21 (7.4%) are X-linked conditions. Of those, 20 (7.1%) are autosomal recessive conditions, notable for variable expression of the clinical phenotype in heterozygous carriers, which may increase maternal risk for malignancy, bleeding, cardiovascular, or rheumatologic disease. ![]() ![]() The next generation sequencing ECS panel offered at our academic medical center consists of 283 genes associated with hereditary disorders. 1 However, it has traditionally been used to assess fetal risk. Expanded carrier screening (ECS) is rising in popularity because of its application in a diverse population, its decreasing cost, and efficiency. ![]()
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