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- Title
Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008.
- Authors
van Rij, MC; de Koning Gans, PAM; Aalfs, CM; Elting, M; Ippel, PF; Maat‐Kievit, JA; Vermeer, S; Verschuuren‐Bemelmans, CC; van Belzen, MJ; Belfroid, RDM; Losekoot, M; Geraedts, JPM; Roos, RAC; Tibben, A; de Die‐Smulders, CEM; Bijlsma, EK
- Abstract
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.
- Subjects
NETHERLANDS; PRENATAL diagnosis; HUNTINGTON disease; FETAL development; ALLELES; HIGH-risk pregnancy; MISCARRIAGE
- Publication
Clinical Genetics, 2014, Vol 85, Issue 1, p78
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.12090