Publications by authors named "Bethany Stott"
All pregnant women in the United Kingdom are offered and encouraged to take up screening for human immunodeficiency virus (HIV), hepatitis B and syphilis, with excellent uptake rates and engagement in care resulting in very few infants being infected with HIV in the United Kingdom. However, in that small number of women who decline testing, there remains an opportunity to offer further support to test and engage them and their baby in care, even if this happens in labour or immediately after birth. In addition, these women may be at increased risk of HIV.
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- The study aimed to evaluate the effectiveness of various genetic testing methods (QF-PCR, CMA, and ES) in diagnosing congenital heart disease (CHD) in fetuses and their association with extra-cardiac anomalies (ECAs).
- Conducted across 12 UK foetal medicine centers, the research assessed 147 cases, revealing a genetic diagnosis in 34.7% of instances, with distinct diagnostic yields from each technology.
- Findings indicated that QF-PCR was most effective for septal defects, CMA for conotruncal anomalies, and that complex CHD had a higher diagnostic yield, highlighting the continued importance of traditional testing methods alongside advanced exome sequencing.