Literature DB >> 7760329

The prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993.

J L Tolmie1, H R Davidson, H M May, K McIntosh, J S Paterson, B Smith.   

Abstract

Information about the prenatal exclusion test for Huntington's disease (HD) has been given to an unselected series of couples who attended the genetic counselling clinic from 1986 onwards. Ten couples underwent 13 prenatal tests during this period with expressed intention of stopping a pregnancy if the result indicated a high risk (almost 50%) that the fetus carried the HD gene. Nine fetuses at nearly 50% risk of carrying the HD gene were identified but only six such pregnancies were terminated. In each of three high risk pregnancies which continued, the mother made a "final hour" decision not to undergo the scheduled, first trimester termination. In our experience, late reversal of a previous decision to undergo first trimester pregnancy termination for a genetic indication is uniquely frequent among couples who have undergone the prenatal exclusion test for HD.

Entities:  

Mesh:

Substances:

Year:  1995        PMID: 7760329      PMCID: PMC1050227          DOI: 10.1136/jmg.32.2.97

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  18 in total

1.  One hundred requests for predictive testing for Huntington's disease.

Authors:  S A Simpson; J Besson; D Alexander; K Allan; A W Johnston
Journal:  Clin Genet       Date:  1992-06       Impact factor: 4.438

2.  The psychosocial sequelae of a second-trimester termination of pregnancy for fetal abnormality.

Authors:  M C White-van Mourik; J M Connor; M A Ferguson-Smith
Journal:  Prenat Diagn       Date:  1992-03       Impact factor: 3.050

3.  Uptake of presymptomatic predictive testing for Huntington's disease.

Authors:  D Craufurd; A Dodge; L Kerzin-Storrar; R Harris
Journal:  Lancet       Date:  1989-09-09       Impact factor: 79.321

4.  Predictive testing for Huntington's disease with linked DNA markers.

Authors:  D J Brock; M Mennie; A Curtis; F A Millan; L Barron; J A Raeburn; D Dinwoodie; S Holloway; A Crosbie; A Wright
Journal:  Lancet       Date:  1989-08-26       Impact factor: 79.321

5.  Preclinical testing in Huntington disease.

Authors:  M Bloch; M R Hayden
Journal:  Am J Med Genet       Date:  1987-07

6.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

7.  Attitudes of general practitioners to presymptomatic testing for Huntington's disease.

Authors:  M E Mennie; S M Holloway; D J Brock
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

8.  Exclusion testing in pregnancy for Huntington's disease.

Authors:  A Tyler; O W Quarrell; L P Lazarou; A L Meredith; P S Harper
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

9.  Presymptomatic testing for Huntington's disease in the United Kingdom. The United Kingdom Huntington's Disease Prediction Consortium.

Authors:  A Tyler; D Ball; D Craufurd
Journal:  BMJ       Date:  1992-06-20

10.  Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker.

Authors:  O W Quarrell; A L Meredith; A Tyler; S Youngman; M Upadhyaya; P S Harper
Journal:  Lancet       Date:  1987-06-06       Impact factor: 79.321

View more
  3 in total

1.  Refusing to provide a prenatal test: can it ever be ethical?

Authors:  Rony E Duncan; Bennett Foddy; Martin B Delatycki
Journal:  BMJ       Date:  2006-11-18

Review 2.  A case-note review of continued pregnancies found to be at a high risk of Huntington's disease: considerations for clinical practice.

Authors:  Felicity Wadrup; Simon Holden; Rhona MacLeod; Zosia Miedzybrodzka; Andrea H Németh; Shan Owens; Sara Pasalodos; Oliver Quarrell; Angus J Clarke
Journal:  Eur J Hum Genet       Date:  2019-03-19       Impact factor: 4.246

3.  Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience.

Authors:  Tania Cruz-Mariño; Luis Velázquez-Pérez; Yanetza González-Zaldivar; Raúl Aguilera-Rodríguez; Miguel Velázquez-Santos; Yaimé Vázquez-Mojena; Annelié Estupiñán-Rodríguez; Rubén Reynaldo-Armiñán; Luis Enrique Almaguer-Mederos; José Miguel Laffita-Mesa; Victor Tamayo-Chiang; Milena Paneque
Journal:  J Community Genet       Date:  2013-05-15
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.