SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
Research type
Research Study
Full title
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
IRAS ID
210005
Contact name
Basky Thilaganathan
Contact email
Sponsor organisation
Natera, Inc.
Clinicaltrials.gov Identifier
Clinicaltrials.gov Identifier
14-024B-NPT, Substudy (date 30.03.2016)
Duration of Study in the UK
2 years, 6 months, 28 days
Research summary
Prenatal screening for chromosomal abnormalities is routinely offered to all pregnant women. High risk results are usually confirmed by invasive diagnostic testing. The routine tests screen for 3 chromosomal abnormalities only (Down's, Edward's and Pateau Syndromes). However, these tests do not screen for other minor chromosomal abnormalities; some of them are quite serious and can result in fetal abnormalities and the risk of disability. Therefore, many of these clinically significant minor chromosomal abnormalities are not diagnosed until after birth. The analysis of DNA in the maternal blood, such as the Panorama® test, has recently been shown to be much more accurate that routinely used screening tests for the identification of fetuses with chromosomal abnormalities. The purpose of this study is to collect follow-up information and samples from pregnancies who received Panorama prenatal screening. The primary focus of the study is to test the performance of the test in identifying babies affected by DiGeorge’s syndrome. This condition is caused by a small missing piece of chromosome 22. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children have some learning disability, delayed speech and language. Once parents are aware that the baby is affected, they can take steps to mitigate the severity of the symptoms, e.g. administering calcium shortly after birth. In this study, we will collect a maternal blood sample, data and some follow-up samples, such as a sample from the cord blood after delivery, a tiny piece of the placenta, leftover newborn blood spots, or a swab from the baby’s cheek to monitor test performance and to explore ways that the Panorama test can be improved.
SUB STUDY:
SMART Supplemental Blood Sample Collection
To collect additional blood samples for research use and regulatory submission use related to the Panorama or other prenatal testing.REC name
East of England - Cambridge East Research Ethics Committee
REC reference
17/EE/0008
Date of REC Opinion
10 Mar 2017
REC opinion
Further Information Favourable Opinion