Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Résumé fourni par la source

OBJECTIVE: The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing performed, laboratory and analytical processes, multidisciplinary team working, reporting practices, quality, reanalysis and data sharing. METHOD: A draft survey was developed and reviewed by members of the International Society of Prenatal Diagnosis (ISPD) and revised accordingly. Questions were developed with the aim of ascertaining how prenatal sequencing services are being conducted and results reported. The survey was distributed to members of all GenQA registered laboratories and ISPD members. RESULTS: Responses were received from 101 individuals from a range of specialisms. The results show a high degree of variability in how laboratories are conducting, analysing and reporting foetal sequencing tests. CONCLUSION: The survey results demonstrate the need for global guidance on issues related specifically to prenatal sequencing. To include: the role of the clinical team prior to testing, the scope and limitations of sequencing, multidisciplinary working to interpret the data, the handling unexpected findings and clear, accurate reporting of the results.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.