None of the authors reported a conflict of interest.
Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008
Article first published online: 27 MAR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Special Issue: BRCA1 and BRCA2
Volume 85, Issue 1, pages 78–86, January 2014
How to Cite
Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008., , , , , , , , , , , , , , , .
- Issue published online: 12 DEC 2013
- Article first published online: 27 MAR 2013
- Accepted manuscript online: 25 JAN 2013 09:41AM EST
- Manuscript Accepted: 31 DEC 2012
- Manuscript Revised: 27 DEC 2012
- Manuscript Received: 6 DEC 2012
- continued pregnancy;
- exclusion test;
- exclusion-definitive test;
- grey test result;
- Huntington's disease;
- intermediate allele;
- prenatal diagnosis;
- reproductive decision making;
This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A total of 126 couples underwent prenatal diagnosis (PND) on 216 foetuses: 185 (86%) direct tests and 31 (14%) exclusion tests. In 9% of direct tests the risk for the foetus was 25%. Four at-risk parents (4%) carried intermediate alleles. Ninety-one foetuses had CAG expansions ≥36% or 50% risk haplotypes: 75 (82%) were terminated for HD, 12 (13%) were carried to term; four pregnancies were miscarried, terminated for other reasons or lost to follow-up. Unaffected pregnancies (122 foetuses) resulted in the birth of 112 children. The estimated uptake of PND was 22% of CAG expansion carriers (≥36 repeats) at reproductive age. PND was used by two new subgroups: carriers of intermediate alleles and 50% at-risk persons opting for a direct prenatal test of the foetus. A significant number of HD expansion or 50% risk pregnancies were continued. Speculations were made on causative factors contributing to these continuations. Further research on these couples' motives is needed.