Academic Journal
Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.
| Τίτλος: | Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease. |
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| Συγγραφείς: | Bijlsma EK; Clinical Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands e.k.bijlsma@lumc.nl., Koopmann TT; Clinical Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., de Bot ST; Neurology, Leiden University Medical Center, Leiden, The Netherlands., Losekoot M; Clinical Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands. |
| Πηγή: | Journal of medical genetics [J Med Genet] 2026 Jun 25; Vol. 63 (7), pp. 463-465. Date of Electronic Publication: 2026 Jun 25. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: London : British Medical Association |
| Ιατρικοί όροι (MeSH): | Huntington Disease*/genetics , Huntington Disease*/diagnosis , Genetic Testing*/methods , Haplotypes*/genetics , Genetic Predisposition to Disease*, Humans ; Female ; Pregnancy ; Genetic Counseling ; Prenatal Diagnosis ; Parents |
| Περίληψη: | Presymptomatic testing (PT) for Huntington's disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, '25% at-risk individuals' request to know their genetic status. Family planning is one of the main reasons why predictive testing is requested and with the availability of a direct test, new choices regarding reproduction emerged. In pregnancies, couples of whom the at-risk parent (ARP) does not want to know their own status may opt for direct testing in the 25% at-risk fetus. However, this option has a significant disadvantage: in 25% of cases, the gene expansion will be detected in the fetus, simultaneously revealing the ARP's status. Nevertheless, there is a benefit to this approach that has not yet been well exploited: adding haplotyping to a normal prenatal test outcome may find the ARP (the 'linking pin') no longer at risk of developing HD. We have coined the term reverse haplotyping for this approach. Data from three families in which we applied this method are presented. Our aim is to raise awareness of the full potential of DNA analysis in this context. (© Author(s) (or their employer(s)) 2026. No commercial re-use. See rights and permissions. Published by BMJ Group.) |
| Competing Interests: | Competing interests: STdB: Leiden University Medical Center receives funding from the European Huntington’s Disease Network (EHDN) and Cure HD Initiative (CHDI), is involved in the EU Horizon 2020 project IMI 2 (IDEA_FAST; grant agreement No 853981) and NWO NWA-ORC grant for the CureQ project (NWA.1389.20.244), and takes part in clinical trials sponsored by PRILENIA, PTC Therapeutics, WAVE and VICO Therapeutics. She has received consultancy fees from PTC Therapeutics for the PTC518 phase 3 programme. None of these sponsors were involved in the design, execution, interpretation or writing of this study. The other authors have no conflicts of interest to declare. |
| Contributed Indexing: | Keywords: Genetic Counseling; Genetic Linkage; Genetic Predisposition to Disease; Genetics, Medical; Prenatal Diagnosis |
| Entry Date(s): | Date Created: 20260409 Date Completed: 20260626 Latest Revision: 20260626 |
| Update Code: | 20260627 |
| DOI: | 10.1136/jmg-2026-111509 |
| PMID: | 41956800 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1468-6244 |
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| DOI: | 10.1136/jmg-2026-111509 |