{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T11:15:27Z","timestamp":1770290127197,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,4,5]],"date-time":"2015-04-05T00:00:00Z","timestamp":1428192000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>With a shift towards noninvasive testing, we have explored and validated the use of noninvasive prenatal diagnosis (NIPD) for Huntington disease (HD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fifteen couples have been included, assessing a total of <jats:italic>n<\/jats:italic>\u2009=\u200920 pregnancies. Fetal paternally inherited CAG repeat length was determined in total cell\u2010free DNA from maternal plasma using a direct approach by PCR and subsequent fragment analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All fetal HD (<jats:italic>n<\/jats:italic>\u2009=\u20097) and intermediate (<jats:italic>n<\/jats:italic>\u2009=\u20093) CAG repeats could be detected in maternal plasma. Detection of repeats in the normal range (<jats:italic>n<\/jats:italic>\u2009=\u200910) was successful in <jats:italic>n<\/jats:italic>\u2009=\u20095 cases where the paternal repeat size could be distinguished from maternal repeat patterns after fragment analysis. In all other cases (<jats:italic>n<\/jats:italic>\u2009=\u20095), the paternal peaks coincided with the maternal peak pattern. All NIPD results were concordant with results from routine diagnostics on fetal genomic DNA from chorionic villi.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this validation study, we demonstrated that all fetuses at risk for HD could be identified noninvasively in maternal plasma. Additionally, we have confirmed results from previously described case reports that NIPD for HD can be performed using a direct approach by PCR. For future diagnostics, parental CAG profiles can be used to predict the success rate for NIPD prior to testing. \u00a9 2015 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4593","type":"journal-article","created":{"date-parts":[[2015,3,13]],"date-time":"2015-03-13T02:19:05Z","timestamp":1426213145000},"page":"945-949","source":"Crossref","is-referenced-by-count":22,"title":["Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma"],"prefix":"10.1002","volume":"35","author":[{"given":"Jessica M. E.","family":"van den Oever","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilia K.","family":"Bijlsma","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilse","family":"Feenstra","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nienke","family":"Muntjewerff","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inge B.","family":"Mathijssen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Academic Medical Center  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Egbert","family":"Bakker","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine J.","family":"van Belzen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elles M. J.","family":"Boon","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.embor.7400250"},{"issue":"6","key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. 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