Vol.13, No 2, 2006 pp. 74 - 77
UC 616.851:616-079(497.2)
THE IMPLICATION OF THE FIRST PRENATAL DIAGNOSIS FOR
HUNTINGTON DISEASE IN BULGARIA AFTER PREDICTIVE TESTING
Ivanka I. Dimova1, Stefan Wieczorek2, Violeta G. Dimitrova3,
Albena Krasteva4, Stoyan G. Lalchev1, Draga I. Toncheva1
1Department of medical genetics, Medical University, Sofia, Bulgaria
2Ruhr–University Bochum, Human Genetics, Germany
3Fetal Medicine Department, University Hospital of Obstetrics and Gynaecology "Maichin dom", Sofia, Bulgaria
4Clinical Psychology, University Hospital of Paediatrics, Sofia, Bulgaria
 E-mail: dragatoncheva@yahoo.com
Summary. The issue of carrier testing for Huntington's disease (HD) gene is controversial. Careful counselling and follow-up is needed if asymptomatic family members at risk are tested. Though test results are "black or white" in >99% of cases, their interpretation may be quite problematic and difficult in individual cases. Although the identification of the HD gene mutation has facilitated predictive testing, there is no treatment available to slow down or alter the disease progression. Therefore, carrier testing is associated with numerous emotional, practical and ethical concerns. Appropriate genetic counselling and support is necessary in such cases. We present our experience in predictive testing of HD, underpinning essential steps of the testing procedure: evaluation of the motives, psychological assessment before and after the tests and consistent support of the patient/couple during the entire process as well as of their subsequent reproductive decisions.
Key words: Huntington disease, predictive testing, repeat expansion mutation, genetic counselling
IMPLIKACIJE PRVE PRENATALNE DIJAGNOZE HANTINGTONE BOLESTI U
BUGARSKOJ POSLE PREDIKTIVNOG TESTIRANJA
Kratak sadržaj: Pitanje testova za gene Hantingtonove bolesti (HD) je kontraverzno. Pažljivo savetovanje i praćenje je potrebno ako se testiraju asimptomatski članovi porodice izloženi riziku. Iako su rezultati testova "crno-beli" u >99% slučajeva, njihova interpretacija može biti vrlo problematična i teška u pojedinačnim slučajevima. Iako je identifikacija HD mutacionog gena olakšala prediktivne testove, ne postoji odgovarajući tretman koji bi usporio ili promenio razvoj bolesti. Zbog toga su testovi vezani za brojne emocionalne, praktične i etičke probleme. Odgovarajuće genetsko savetovanje i podrška su neophodni u takvim slučajevima. Ovde predstavljamo naše iskustvo u testovima predviđanja HD, posebno naglašavajući suštinske korake u proceduri testiranja: evaluaciju motiva, psihološku procenu pre i posle testova i stalnu podršku pacijenta/para tokom celog procesa, kao i njihovih odluka o reprodukciji.
Ključne reči: Hantingtonova bolest, prediktivni testovi, ponovljena ekspanzija mutacija, genetski savet