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Published on: December 10, 2021
Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008
M C van Rij1, P A M de Koning Gans, C M Aalfs
1Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
Clinical Genetics
|January 29, 2013
Summary
Prenatal diagnosis for Huntington's disease (HD) in the Netherlands showed a 22% uptake among carriers. A significant number of at-risk pregnancies were continued, necessitating further research into parental decisions.
Area of Science:
- Genetics
- Neurology
- Reproductive Medicine
Background:
- Huntington's disease (HD) is a progressive neurodegenerative disorder.
- Prenatal diagnosis (PND) offers genetic information to at-risk couples.
- Understanding PND uptake and outcomes is crucial for reproductive counseling.
Purpose of the Study:
- To provide an overview of PND for HD in the Netherlands from 1998-2008.
- To compare these data with previous findings (1987-1997).
- To analyze PND test results and pregnancy outcomes.
Main Methods:
- Retrospective analysis of PND data for 126 couples and 216 fetuses.
- Categorization of tests into direct and exclusion tests.
- Tracking of CAG repeat expansions and risk haplotypes.
Main Results:
- 91 fetuses had CAG expansions or 50% risk haplotypes; 82% were terminated for HD.
- 13% of at-risk pregnancies were carried to term.
- Estimated PND uptake was 22% among CAG expansion carriers (≥36 repeats).
- New subgroups utilizing PND included intermediate allele carriers and 50% at-risk individuals.
- A notable proportion of HD-risk pregnancies were continued.
Conclusions:
- PND uptake for HD in the Netherlands is moderate.
- A significant number of pregnancies with HD risk were continued.
- Further research is needed to understand the factors influencing decisions to continue high-risk pregnancies.
