Publications by authors named "K Loggenberg"
Trisomy 20 has been shown to be one of the most frequent rare autosomal trisomies in patients that undergo genome-wide noninvasive prenatal testing. Here, we describe the clinical outcomes of cases that screened positive for trisomy 20 following prenatal genome-wide cell-free (cf.) DNA screening.
View Article and Find Full Text PDFArticle Synopsis
- Cell-free DNA screening is a noninvasive method used to detect common fetal trisomies and can also identify rare autosomal aneuploidies (RAAs) and other genetic anomalies.
- A global study involving 109 cases showed that about 20.3% of patients with a positive cfDNA result for RAAs were confirmed to have one after diagnostic testing, with many experiencing adverse pregnancy outcomes.
- The findings suggest that genome-wide cfDNA screening can inform pregnancy management and counseling, as it may help explain negative outcomes and lead to closer monitoring.
Objective: Ashkenazi-Jewish (AJ) population-based BRCA testing is acceptable, cost-effective and amplifies primary prevention for breast & ovarian cancer. However, data describing lifestyle impact are lacking. We report long-term results of population-based BRCA testing on lifestyle behaviour and cancer risk perception.
View Article and Find Full Text PDFObjective: To evaluate the association of Jewish cultural and religious identity and denominational affiliation with interest in, intention to undertake and uptake of population-based BRCA (Breast Cancer Gene)-testing.
Design: Cohort-study set within recruitment to GCaPPS-trial (ISRCTN73338115).
Setting: London Ashkenazi-Jewish (AJ) population.
Objective: Unselected population-based BRCA testing provides the opportunity to apply genomics on a population-scale to maximise primary prevention for breast-and-ovarian cancer. We compare long-term outcomes of population-based and family-history (FH)/clinical-criteria-based BRCA testing on psychological health and quality of life.
Design: Randomised controlled trial (RCT) (ISRCTN73338115) GCaPPS, with two-arms: (i) population-screening (PS); (ii) FH/clinical-criteria-based testing.