Min Pan and Fa Tao Li contributed equally to this work.
Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue
Article first published online: 27 MAR 2013
© 2013 John Wiley & Sons, Ltd.
Special Issue: Noninvasive Prenatal Testing Using Maternal Plasma DNA: Part I
Volume 33, Issue 6, pages 598–601, June 2013
How to Cite
Pan, M., Li, F. T., Li, Y., Jiang, F. M., Li, D. Z., Lau, T. K. and Liao, C. (2013), Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Prenat. Diagn., 33: 598–601. doi: 10.1002/pd.4069
Funding sources: None
Conflicts of interest: None declared
- Issue published online: 17 MAY 2013
- Article first published online: 27 MAR 2013
- Manuscript Revised: 25 JAN 2013
- Manuscript Accepted: 25 JAN 2013
- Manuscript Received: 30 DEC 2012
Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. We reported here a case who had first trimester screening test for Down syndrome, chorionic villus sampling for fetal karyotyping, quantitative fluorescence polymerase chain reaction (QF-PCR), as well as non-invasive prenatal testing (NIPT) by maternal plasma sequencing. There were discordant results between fetal karyotyping and NIPT due to UPD 21combined with confined placental mosaicism of trisomy 21. This demonstrated that it is possible to detect placental mosaicism by NIPT, but further studies are required to confirm its sensitivity. Therefore, all positive NIPT results must be confirmed by conventional invasive test and karyotyping. QF-PCR has the additional benefit in diagnosing UPD. © 2013 John Wiley & Sons, Ltd.