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 language | English |
|---|---|
| Pages (from-to) | 1639–1643 |
| Number of pages | 5 |
| Journal | Genetics in Medicine |
| Volume | 21 |
| Early online date | 14 Dec 2018 |
| DOIs | |
| Publication status | Published - Jul 2019 |
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Keywords
- amniocentesis
- chorionic villi
- Huntington disease
- neurodegenerative disorders
- preimplantation genetic diagnosis
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
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 journal › Article
}
TY - JOUR
T1 - 27 years of prenatal diagnosis for Huntington disease in the United Kingdom
AU - Piña-Aguilar, Raul E.
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.
PY - 2019/7
Y1 - 2019/7
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.
AB - 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.
KW - amniocentesis
KW - chorionic villi
KW - Huntington disease
KW - neurodegenerative disorders
KW - preimplantation genetic diagnosis
UR - http://www.scopus.com/inward/record.url?scp=85058492509&partnerID=8YFLogxK
UR - http://www.mendeley.com/research/27-years-prenatal-diagnosis-huntington-disease-united-kingdom-1
U2 - 10.1038/s41436-018-0367-z
DO - 10.1038/s41436-018-0367-z
M3 - Article
VL - 21
SP - 1639
EP - 1643
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
ER -