{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:01:22Z","timestamp":1775800882122,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T00:00:00Z","timestamp":1364342400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:p>This study aims to give an overview of the number of prenatal tests for Huntington's disease (<jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>), 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 (<jats:styled-content style=\"fixed-case\">PND<\/jats:styled-content>) 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\u2010risk parents (4%) carried intermediate alleles. Ninety\u2010one foetuses had <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> expansions \u226536% or 50% risk haplotypes: 75 (82%) were terminated for <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>, 12 (13%) were carried to term; four pregnancies were miscarried, terminated for other reasons or lost to follow\u2010up. Unaffected pregnancies (122 foetuses) resulted in the birth of 112 children. The estimated uptake of <jats:styled-content style=\"fixed-case\">PND<\/jats:styled-content> was 22% of <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> expansion carriers (\u226536 repeats) at reproductive age. <jats:styled-content style=\"fixed-case\">PND<\/jats:styled-content> was used by two new subgroups: carriers of intermediate alleles and 50% at\u2010risk persons opting for a direct prenatal test of the foetus. A significant number of <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> 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.<\/jats:p>","DOI":"10.1111\/cge.12090","type":"journal-article","created":{"date-parts":[[2013,1,25]],"date-time":"2013-01-25T15:07:12Z","timestamp":1359126432000},"page":"78-86","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal testing for Huntington's disease in\u00a0the Netherlands from 1998 to 2008"],"prefix":"10.1111","volume":"85","author":[{"given":"MC","family":"van Rij","sequence":"first","affiliation":[{"name":"Department of Neurology Leiden University Medical Centre  Leiden the Netherlands"},{"name":"Department of Clinical Genetics Maastricht University Medical Centre  Maastricht the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"PAM","family":"de Koning Gans","sequence":"additional","affiliation":[{"name":"Centre for Human and Clinical Genetics Leiden University Medical Centre  Leiden the 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