Non-invasive prenatal determination of fetal sex: translating research into clinical practice
Article first published online: 15 SEP 2010
© 2010 John Wiley & Sons A/S
Volume 80, Issue 1, pages 68–75, July 2011
How to Cite
Hill, M., Finning, K., Martin, P., Hogg, J., Meaney, C., Norbury, G., Daniels, G. and Chitty, L. (2011), Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clinical Genetics, 80: 68–75. doi: 10.1111/j.1399-0004.2010.01533.x
- Issue published online: 8 JUN 2011
- Article first published online: 15 SEP 2010
- Accepted manuscript online: 19 AUG 2010 10:40AM EST
- Received 7 April 2010, revised and accepted for publication 17 August 2010
- fetal sex determination;
- non-invasive prenatal diagnosis;
Hill M, Finning K, Martin P, Hogg J, Meaney C, Norbury G, Daniels G, Chitty LS. Non-invasive prenatal determination of fetal sex: translating research into clinical practice.
The effectiveness and clinical utility of non-invasive prenatal diagnosis (NIPD) for fetal sex determination using cell-free fetal DNA (cffDNA) was assessed by undertaking a prospective national audit of UK testing. NIPD was performed using real-time polymerase chain reaction analysis of the DYS14 or SRY gene in cffDNA extracted from maternal plasma. All cases referred for fetal sex determination from 1 April 2006 to 31 March 2009 were ascertained from two laboratories offering the test. Fetal gender determined by NIPD was compared with that based on ultrasound, invasive test or phenotype at birth. Indication and rate of invasive testing was ascertained. In the first year, results were issued in 150/161 pregnancies tested. Of the 135 with outcome data, results were concordant in 130/135 [96.3% (95% CI 91.6–98.8%)]. Reporting criteria were changed and in the subsequent 511 pregnancies the concordancy rate increased to 401/403 [99.5% (95% CI 98.2–99.9%)]. Over the 3 years only 32.9% (174/528) underwent invasive testing. NIPD for fetal sex determination using cffDNA is highly accurate when performed in National Health Service laboratories if stringent reporting criteria are applied. Parents should be advised of the small risk of discordant results and possible need for repeat testing to resolve inconclusive results.