EACH study follow-up
Research type
Research Study
Full title
Evaluation of array comparative genomic hybridisation in the prenatal diagnosis of fetal anomalies (EACH) follow up study
IRAS ID
184373
Contact name
Diana Wellesley
Contact email
Sponsor organisation
Southampton University Hospital NHS Foundation Trust
Clinicaltrials.gov Identifier
NCT02160938, ClinicalTrials.gov
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
This study is funded to continue the investigations into the use of chromosomal microarray analysis (CMA) in prenatal diagnosis by following up children recruited, during pregnancy, into the ‘Evaluation of Array Comparative genomic Hybridisation in the prenatal diagnosis of fetal anomalies’ (EACH) study. Women were invited to enroll in this study, during pregnancy, if either a congenital anomaly or a raised nuchal translucency (NT) was detected in their fetus, by ultrasound scan. The CMA technique, now widely used postnatally, is known to detect more pathogenic abnormalities but also to find variants of uncertain significance (VOUS) whose pathogenicity is unknown or uncertain due to insufficient experience. The diagnostic capabilities of this technique make it highly likely that CMA will become a routine part of prenatal diagnosis. However, important additional information is still required to assure a smooth transition to this new method in the prenatal setting. There is a major need to improve the understanding of the natural history, penetrance and expressivity of copy number variants (CNVs), including VOUS, when discovered in-utero. To accomplish this, detailed developmental evaluations, including standardized intelligence tests, will be conducted at approximately age 30-36 months on approximately 40 selected children recruited during the project. These will include photographs of the children for blind review by a dysmorphologist and an inquiry into their general health. These findings will be combined with those from a similar study in the USA to provide sufficient numbers for valid results.
REC name
South Central - Berkshire B Research Ethics Committee
REC reference
15/SC/0747
Date of REC Opinion
27 Jan 2016
REC opinion
Further Information Favourable Opinion