27 years of prenatal diagnosis for Huntington disease in the United Kingdom

Raul E. Piña-Aguilar, Sheila A. Simpson, Abdulrahman Alshatti, Angus Clarke, David Craufurd, Huw Dorkins, Karen Doye, Nayana Lahiri, Alison Lashwood, Colleen Lynch, Claire Miller, Sally Morton, Mary O’Driscoll, Oliver W. Quarrell, Daniela Rae, Mark Strong, Charlotte Tomlinson, Peter Turnpenny, Zosia Miedzybrodzka (Corresponding Author), UK HD Predictive Testing Consortium

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Purpose: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families’ decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and preimplantation diagnosis for HD in the United Kingdom since services commenced. Methods: Long-term UK-wide prospective case record-based service evaluation in 23 UK Regional Genetic Centres 1988–2015, and four UK PGD centers 2002–2015. Results: From 1988 to 2015, 479 prenatal diagnoses were performed in the UK for HD. An exclusion approach was used in 150 (31%). The annual rate of HD prenatal diagnosis has remained around 18 (3.5/million) over 27 years, despite a steady increase in the use of PGD for HD since 2002. Conclusion: Although increasing number of couples are choosing either direct or exclusion PGD to prevent HD in their offspring, both direct and exclusion prenatal diagnosis remain important options in a health system where both PGD and prenatal diagnosis are state funded. At-risk couples should be informed of all options available to them, preferably prepregnancy.

Original languageEnglish
Pages (from-to)1639–1643
Number of pages5
JournalGenetics in Medicine
Volume21
Early online date14 Dec 2018
DOIs
Publication statusPublished - Jul 2019

Fingerprint

Preimplantation Diagnosis
Huntington Disease
Prenatal Diagnosis
United Kingdom
Neurodegenerative Diseases
Health
Population

Keywords

  • amniocentesis
  • chorionic villi
  • Huntington disease
  • neurodegenerative disorders
  • preimplantation genetic diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Piña-Aguilar, R. E., Simpson, S. A., Alshatti, A., Clarke, A., Craufurd, D., Dorkins, H., ... UK HD Predictive Testing Consortium (2019). 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genetics in Medicine, 21, 1639–1643. https://doi.org/10.1038/s41436-018-0367-z

27 years of prenatal diagnosis for Huntington disease in the United Kingdom. / Piña-Aguilar, Raul E.; Simpson, Sheila A.; Alshatti, Abdulrahman; Clarke, Angus; Craufurd, David; Dorkins, Huw; Doye, Karen; Lahiri, Nayana; Lashwood, Alison; Lynch, Colleen; Miller, Claire; Morton, Sally; O’Driscoll, Mary; Quarrell, Oliver W.; Rae, Daniela; Strong, Mark; Tomlinson, Charlotte; Turnpenny, Peter; Miedzybrodzka, Zosia (Corresponding Author); UK HD Predictive Testing Consortium.

In: Genetics in Medicine, Vol. 21, 07.2019, p. 1639–1643.

Research output: Contribution to journalArticle

Piña-Aguilar, RE, Simpson, SA, Alshatti, A, Clarke, A, Craufurd, D, Dorkins, H, Doye, K, Lahiri, N, Lashwood, A, Lynch, C, Miller, C, Morton, S, O’Driscoll, M, Quarrell, OW, Rae, D, Strong, M, Tomlinson, C, Turnpenny, P, Miedzybrodzka, Z & UK HD Predictive Testing Consortium 2019, '27 years of prenatal diagnosis for Huntington disease in the United Kingdom' Genetics in Medicine, vol. 21, pp. 1639–1643. https://doi.org/10.1038/s41436-018-0367-z
Piña-Aguilar, Raul E. ; Simpson, Sheila A. ; Alshatti, Abdulrahman ; Clarke, Angus ; Craufurd, David ; Dorkins, Huw ; Doye, Karen ; Lahiri, Nayana ; Lashwood, Alison ; Lynch, Colleen ; Miller, Claire ; Morton, Sally ; O’Driscoll, Mary ; Quarrell, Oliver W. ; Rae, Daniela ; Strong, Mark ; Tomlinson, Charlotte ; Turnpenny, Peter ; Miedzybrodzka, Zosia ; UK HD Predictive Testing Consortium. / 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. In: Genetics in Medicine. 2019 ; Vol. 21. pp. 1639–1643.
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abstract = "Purpose: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families’ decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and preimplantation diagnosis for HD in the United Kingdom since services commenced. Methods: Long-term UK-wide prospective case record-based service evaluation in 23 UK Regional Genetic Centres 1988–2015, and four UK PGD centers 2002–2015. Results: From 1988 to 2015, 479 prenatal diagnoses were performed in the UK for HD. An exclusion approach was used in 150 (31{\%}). The annual rate of HD prenatal diagnosis has remained around 18 (3.5/million) over 27 years, despite a steady increase in the use of PGD for HD since 2002. Conclusion: Although increasing number of couples are choosing either direct or exclusion PGD to prevent HD in their offspring, both direct and exclusion prenatal diagnosis remain important options in a health system where both PGD and prenatal diagnosis are state funded. At-risk couples should be informed of all options available to them, preferably prepregnancy.",
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AU - Simpson, Sheila A.

AU - Alshatti, Abdulrahman

AU - Clarke, Angus

AU - Craufurd, David

AU - Dorkins, Huw

AU - Doye, Karen

AU - Lahiri, Nayana

AU - Lashwood, Alison

AU - Lynch, Colleen

AU - Miller, Claire

AU - Morton, Sally

AU - O’Driscoll, Mary

AU - Quarrell, Oliver W.

AU - Rae, Daniela

AU - Strong, Mark

AU - Tomlinson, Charlotte

AU - Turnpenny, Peter

AU - Miedzybrodzka, Zosia

AU - UK HD Predictive Testing Consortium

N1 - We are grateful to UK genetics centers for supplying the data, and Kirsty Mathieson, Vivien Vaughan, and Stella Sihlabela for collating data.

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N2 - Purpose: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families’ decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and preimplantation diagnosis for HD in the United Kingdom since services commenced. Methods: Long-term UK-wide prospective case record-based service evaluation in 23 UK Regional Genetic Centres 1988–2015, and four UK PGD centers 2002–2015. Results: From 1988 to 2015, 479 prenatal diagnoses were performed in the UK for HD. An exclusion approach was used in 150 (31%). The annual rate of HD prenatal diagnosis has remained around 18 (3.5/million) over 27 years, despite a steady increase in the use of PGD for HD since 2002. Conclusion: Although increasing number of couples are choosing either direct or exclusion PGD to prevent HD in their offspring, both direct and exclusion prenatal diagnosis remain important options in a health system where both PGD and prenatal diagnosis are state funded. At-risk couples should be informed of all options available to them, preferably prepregnancy.

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