Back to Search
Start Over
Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit.
- Source :
-
Genetics research [Genet Res (Camb)] 2020 Sep 01; Vol. 102, pp. e7. Date of Electronic Publication: 2020 Sep 01. - Publication Year :
- 2020
-
Abstract
- Objective: Non-invasive prenatal testing (NIPT) is increasingly being adopted as a screening test in the UK and is currently accessed through certain National Health Service healthcare systems or by private provision. This audit aims to describe reasons for and results of cytogenomic investigations carried out within UK genetic laboratories following an NIPT result indicating increased chance of cytogenomic abnormality ('high-chance NIPT result').<br />Method: A questionnaire was sent out to 24 genetics laboratories in the UK and completed by 18/24 (75%).<br />Results: Data were returned representing 1831 singleton pregnancies. A total of 1329 (73%) invasive samples were taken following NIPT results showing a high chance of trisomy 21; this was confirmed in 1305 (98%) of these by invasive sampling. Trisomy 21 was confirmed in >99% of patients who also had high-screen risk results or abnormal scan findings. Amongst invasive samples taken due to NIPT results indicating a high chance of trisomy 18, 84% yielded a compatible result, and this number dropped to 49% for trisomy 13 and 51% for sex chromosomes.<br />Conclusion: In the UK, the majority of patients having invasive sampling for high-chance NIPT results are doing so following an NIPT result indicating an increased chance of common trisomies (92%). In this population, NIPT performs particularly well for trisomy 21, but less well for other indications.
- Subjects :
- Adult
Down Syndrome epidemiology
Down Syndrome genetics
Female
Genetic Markers
Genetic Testing
Humans
Medical Audit
Middle Aged
Predictive Value of Tests
Pregnancy
State Medicine
Trisomy 13 Syndrome epidemiology
Trisomy 13 Syndrome genetics
Trisomy 18 Syndrome epidemiology
Trisomy 18 Syndrome genetics
Ultrasonography, Prenatal methods
United Kingdom epidemiology
Young Adult
Aneuploidy
Biomarkers analysis
Cytodiagnosis methods
Down Syndrome diagnosis
Noninvasive Prenatal Testing methods
Trisomy 13 Syndrome diagnosis
Trisomy 18 Syndrome diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1469-5073
- Volume :
- 102
- Database :
- MEDLINE
- Journal :
- Genetics research
- Publication Type :
- Academic Journal
- Accession number :
- 32867862
- Full Text :
- https://doi.org/10.1017/S0016672320000087