EPI-FETAL

• Research type

  Research Study

• Full title

  Evaluating the Performance of In-utero FETal MRI and Long read sequencing (EPI-FETAL) - a feasibility study

• IRAS ID

  371234

• Contact name

  Fionnuala Mone

• Contact email

  f.mone@qub.ac.uk

• Sponsor organisation

  Queens University Belfast

• Duration of Study in the UK

  10 years, 0 months, 1 days

• Research summary

  
  Congenital anomalies affect 3-5% of pregnancies. Establishing a prenatal genetic diagnosis is important avoid prolonged diagnostic odyssey. With the introduction of next generation sequencing, up to 30% of families receive a unifying genetic diagnosis for their baby. A substantial proportion of families have no explanation for the congenital anomalies. This is due to limitations of the existing technology.

  Long-read sequencing (LRS) is an emerging tool in prenatal geneticsWhile pilot studies demonstrate feasibility in the field of reproductive medicine it has yet to be adopted in a prenatal setting. Phenotyping is challenging as within the specialty of fetal medicine, one is reliant on ultrasound to gain an accurate description of structural anomalies. Such information informs the pathway for genomic testing as well as the interpretation of bioinformatic data generated from next generation sequencing. Fetal MRI shows promise in optimisation of this phenotyping which is vital in establishing a prenatal diagnosis.

  We hypothesise that both LRS and whole body fetal MRI have an increased diagnostic yield for genetic diagnoses than ultrasound and next generation sequencing alone. To determine the relative contribution of different forms of genetic variation to structural anomalies using LRS and fetal MRI in combination will require a UK/Ireland multicentre study to reach adequate power. In the first instance the feasibility must be determined.

  Hence, we will perform a prospective feasibility study of up to 45 families with fetuses with congenital anomaly to determine out feasibility outcomes and inform a power calculation for a substantive study.

• REC name

  London - Surrey Research Ethics Committee

• REC reference

  26/PR/0710

• Date of REC Opinion

  30 Jun 2026

• REC opinion

  Further Information Favourable Opinion