Publications by authors named "Maisie Blyth"
Front Genet
November 2024
Article Synopsis
- Prenatal exome sequencing (pES) was introduced in England to improve genetic diagnosis in fetuses with structural anomalies, and the study aimed to analyze its outcomes between October 2021 and June 2022, including diagnostic yield and referral rates.
- Out of 475,089 births, the pES referral rate was 8.6 per 10,000, with 59% of referred women undergoing testing; 35% of those received a definitive diagnosis, averaging a turnaround time of 15 days.
- The study found significant variations in outcomes based on diagnostic results, with 40% of women with a definite diagnosis choosing termination of pregnancy, compared to only 18% among those without a diagnosis.
