Emily Becraft
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View article: Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants
Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants Open
Reproductive carrier screening aims to identify individuals at an increased chance of having children affected by genetic conditions. However, testing can also reveal health implications for autosomal or X‐chromosome heterozygotes. One suc…
View article: O60: AFF2 gene variants identified through carrier screening for Fragile XE syndrome
O60: AFF2 gene variants identified through carrier screening for Fragile XE syndrome Open
View article: Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States Open
BACKGROUND: Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the LDLR gene in female individuals receiving reproducti…
View article: P681: Carrier screening with the ACMG 113: An early look and new insights
P681: Carrier screening with the ACMG 113: An early look and new insights Open
In 2021, ACMG released a practice resource for reproductive carrier screening and recommended a pan-ethnic, 113-gene panel as the standard offering for reproductive carrier screening, with a recommendation for a more extensive gene panel b…
View article: 1152 Positive Carrier Screening for Alport Syndrome: A Need for Greater Awareness
1152 Positive Carrier Screening for Alport Syndrome: A Need for Greater Awareness Open
View article: P651: Bleeding complications in pregnant carriers of factor IX and factor XI ascertained through carrier screening
P651: Bleeding complications in pregnant carriers of factor IX and factor XI ascertained through carrier screening Open
Some carriers of inherited coagulation disorders are at increased risk of bleeding, and this may not always correlate with clotting factor levels. Factor IX deficiency is caused by pathogenic (P)/likely pathogenic (LP) variants in the F9 g…
View article: Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy
Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy Open
OBJECTIVE: To identify conditions on a reproductive carrier screening panel with the potential for carrier manifestations during pregnancy and review the implications for obstetric care. METHODS: This was a retrospective cross-sectional st…
View article: P528: Detection of non-deletional variants in HBA1 and HBA2 genes through reproductive carrier screening and breakdown by gene, variant, and ethnicity
P528: Detection of non-deletional variants in HBA1 and HBA2 genes through reproductive carrier screening and breakdown by gene, variant, and ethnicity Open