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Article ; Online: Editorial:

Dorkins, Huw

2021

Language	English
Publishing date	2021-01-13
Publishing country	England
Document type	Journal Article
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2020-107679
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Article ; Online: JMG

Dorkins, Huw

Journal of medical genetics

2019 Volume 56, Issue 7, Page(s) 419

Language	English
Publishing date	2019-06-21
Publishing country	England
Document type	Journal Article
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2019-106308
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Article ; Online: Jewish cultural and religious factors and uptake of population-based BRCA testing across denominations: a cohort study.

Reisel, D / Burnell, M / Side, L / Loggenberg, K / Gessler, S / Desai, R / Sanderson, S / Brady, A F / Dorkins, H / Wallis, Y / Jacobs, C / Legood, R / Beller, U / Tomlinson, I / Wardle, J / Menon, U / Jacobs, I / Manchanda, R

BJOG : an international journal of obstetrics and gynaecology

2021 Volume 129, Issue 6, Page(s) 959–968

Abstract: Objective: To evaluate the association of Jewish cultural and religious identity and denominational affiliation with interest in, intention to undertake and uptake of population-based BRCA (Breast Cancer Gene)-testing.: Design: Cohort-study set ... ...

Abstract	Objective: To evaluate the association of Jewish cultural and religious identity and denominational affiliation with interest in, intention to undertake and uptake of population-based BRCA (Breast Cancer Gene)-testing. Design: Cohort-study set within recruitment to GCaPPS-trial (ISRCTN73338115). Setting: London Ashkenazi-Jewish (AJ) population. Population or sample: AJ men and women, >18 years. Methods: Participants were self-referred, and attended recruitment clinics (clusters) for pre-test counselling. Subsequently consenting individuals underwent BRCA testing. Participants self-identified to one Jewish denomination: Conservative/Liberal/Reform/Traditional/Orthodox/Unaffiliated. Validated scales measured Jewish Cultural-Identity (JI) and Jewish Religious-identity (JR). Four-item Likert-scales analysed initial 'interest' and 'intention to test' pre-counselling. Item-Response-Theory and graded-response models, modelled responses to JI and JR scales. Ordered/multinomial logistic regression modelling evaluated association of JI-scale, JR-scale and Jewish Denominational affiliation on interest, intention and uptake of BRCA testing. Main outcome measures: Interest, intention, uptake of BRCA testing. Results: In all, 935 AJ women/men of mean age = 53.8 (S.D = 15.02) years, received pre-test education and counselling through 256 recruitment clinic clusters (median cluster size = 3). Denominational affiliations included Conservative/Masorti = 91 (10.2%); Liberal = 82 (9.2%), Reform = 135 (15.1%), Traditional = 212 (23.7%), Orthodox = 239 (26.7%); and Unaffiliated/Non-practising = 135 (15.1%). Overall BRCA testing uptake was 88%. Pre-counselling, 96% expressed interest and 60% intention to test. JI and JR scores were highest for Orthodox, followed by Conservative/Masorti, Traditional, Reform, Liberal and Unaffiliated Jewish denominations. Regression modelling showed no significant association between overall Jewish Cultural or Religious Identity with either interest, intention or uptake of BRCA testing. Interest, intention and uptake of BRCA testing was not significantly associated with denominational affiliation. Conclusions: Jewish religious/cultural identity and denominational affiliation do not appear to influence interest, intention or uptake of population-based BRCA testing. BRCA testing was robust across all Jewish denominations. Tweetable abstract: Jewish cultural/religious factors do not affect BRCA testing, with robust uptake seen across all denominational affiliations.
MeSH term(s)	Cohort Studies ; Female ; Genetic Testing ; Humans ; Jews/genetics ; Logistic Models ; London/epidemiology ; Male ; Middle Aged
Language	English
Publishing date	2021-11-25
Publishing country	England
Document type	Journal Article
ZDB-ID	2000931-8
ISSN	1471-0528 ; 0306-5456 ; 1470-0328
ISSN (online)	1471-0528
ISSN	0306-5456 ; 1470-0328
DOI	10.1111/1471-0528.16994
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Article ; Online: The Birt-Hogg-Dube syndrome: dermatological features and internal malignancies.

Stavrakoglou, A / Dubrey, S W / Dorkins, H / Coutts, I

QJM : monthly journal of the Association of Physicians

2010 Volume 103, Issue 12, Page(s) 987–990

MeSH term(s)	Birt-Hogg-Dube Syndrome/pathology ; Carcinoma, Renal Cell/pathology ; Humans ; Kidney Neoplasms/pathology ; Male ; Middle Aged ; Proto-Oncogene Proteins/genetics ; Skin Neoplasms/pathology ; Tumor Suppressor Proteins/genetics
Chemical Substances	FLCN protein, human ; Proto-Oncogene Proteins ; Tumor Suppressor Proteins
Language	English
Publishing date	2010-04-14
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1199985-8
ISSN	1460-2393 ; 0033-5622 ; 1460-2725
ISSN (online)	1460-2393
ISSN	0033-5622 ; 1460-2725
DOI	10.1093/qjmed/hcq051
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Article ; Online: Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term secondary lifestyle behavioural outcomes.

Burnell, Matthew / Gaba, Faiza / Sobocan, Monika / Desai, Rakshit / Sanderson, Saskia / Loggenberg, Kelly / Gessler, Sue / Side, Lucy / Brady, Angela F / Dorkins, Huw / Wallis, Yvonne / Jacobs, Chris / Legood, Rosa / Beller, Uziel / Tomlinson, Ian / Wardle, Jane / Menon, Usha / Jacobs, Ian / Manchanda, Ranjit

BJOG : an international journal of obstetrics and gynaecology

2022 Volume 129, Issue 12, Page(s) 1970–1980

Abstract: Objective: Ashkenazi-Jewish (AJ) population-based BRCA testing is acceptable, cost-effective and amplifies primary prevention for breast & ovarian cancer. However, data describing lifestyle impact are lacking. We report long-term results of population- ... ...

Abstract	Objective: Ashkenazi-Jewish (AJ) population-based BRCA testing is acceptable, cost-effective and amplifies primary prevention for breast & ovarian cancer. However, data describing lifestyle impact are lacking. We report long-term results of population-based BRCA testing on lifestyle behaviour and cancer risk perception. Design: Two-arm randomised controlled trials (ISRCTN73338115, GCaPPS): (a) population-screening (PS); (b) family history (FH)/clinical criteria testing. Setting: North London AJ-population. Population/sample: AJ women/men >18 years. Exclusions: prior BRCA testing or first-degree relatives of BRCA-carriers. Methods: Participants were recruited through self-referral. All participants received informed pre-test genetic counselling. The intervention included genetic testing for three AJ BRCA-mutations: 185delAG(c.68_69delAG), 5382insC(c.5266dupC) and 6174delT(c.5946delT). This was undertaken for all participants in the PS arm and participants fulfilling FH/clinical criteria in the FH arm. Patients filled out customised/validated questionnaires at baseline/1-year/2-year/3-year follow-ups. Generalised linear-mixed models adjusted for covariates and appropriate contrast tests were used for between-group/within-group analysis of lifestyle and behavioural outcomes along with evaluating factors associated with these outcomes. Outcomes are adjusted for multiple testing (Bonferroni method), with P < 0.0039 considered significant. Outcome measures: Lifestyle/behavioural outcomes at baseline/1-year/2-year/3-year follow-ups. Results: 1034 participants were randomised to PS (n = 530) or FH (n = 504) arms. No significant difference was identified between PS- and FH-based BRCA testing approaches in terms of dietary fruit/vegetable/meat consumption, vitamin intake, alcohol quantity/ frequency, smoking behaviour (frequency/cessation), physical activity/exercise or routine breast mammogram screening behaviour, with outcomes not affected by BRCA test result. Cancer risk perception decreased with time following BRCA testing, with no difference between FH/PS approaches, and the perception of risk was lowest in BRCA-negative participants. Men consumed fewer fruits/vegetables/vitamins and more meat/alcohol than women (P < 0.001). Conclusion: Population-based and FH-based AJ BRCA testing have similar long-term lifestyle impacts on smoking, alcohol, dietary fruit/vegetable/meat/vitamin, exercise, breast screening participation and reduced cancer risk perception.
MeSH term(s)	Adult ; Breast Neoplasms/genetics ; Breast Neoplasms/prevention & control ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Jews/genetics ; Life Style ; Male ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/prevention & control ; Vitamins
Chemical Substances	Vitamins
Language	English
Publishing date	2022-07-13
Publishing country	England
Document type	Journal Article ; Randomized Controlled Trial
ZDB-ID	2000931-8
ISSN	1471-0528 ; 0306-5456 ; 1470-0328
ISSN (online)	1471-0528
ISSN	0306-5456 ; 1470-0328
DOI	10.1111/1471-0528.17253
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Article ; Online: Attitude towards and factors affecting uptake of population-based BRCA testing in the Ashkenazi Jewish population: a cohort study.

Manchanda, R / Burnell, M / Gaba, F / Sanderson, S / Loggenberg, K / Gessler, S / Wardle, J / Side, L / Desai, R / Brady, A F / Dorkins, H / Wallis, Y / Chapman, C / Jacobs, C / Tomlinson, I / Beller, U / Menon, U / Jacobs, I

BJOG : an international journal of obstetrics and gynaecology

2019 Volume 126, Issue 6, Page(s) 784–794

Abstract: Objective: To evaluate factors affecting unselected population-based BRCA testing in Ashkenazi Jews (AJ).: Design: Cohort-study set within recruitment to the GCaPPS trial (ISRCTN73338115).: Setting: North London AJ population.: Population or ... ...

Abstract	Objective: To evaluate factors affecting unselected population-based BRCA testing in Ashkenazi Jews (AJ). Design: Cohort-study set within recruitment to the GCaPPS trial (ISRCTN73338115). Setting: North London AJ population. Population or sample: Ashkenazi Jews women/men >18 years, recruited through self-referral. Methods: Ashkenazi Jews women/men underwent pre-test counselling for BRCA testing through recruitment clinics (clusters). Consenting individuals provided blood samples for BRCA testing. Data were collected on socio-demographic/family history/knowledge/psychological well-being along with benefits/risks/cultural influences (18-item questionnaire measuring 'attitude'). Four-item Likert-scales analysed initial 'interest' and 'intention-to-test' pre-counselling. Uni- and multivariable logistic regression models evaluated factors affecting uptake/interest/intention to undergo BRCA testing. Statistical inference was based on cluster robust standard errors and joint Wald tests for significance. Item-Response Theory and graded-response models modelled responses to 18-item questionnaire. Main outcome measures: Interest, intention, uptake, attitude towards BRCA testing. Results: A total of 935 individuals (women = 67%/men = 33%; mean age = 53.8 (SD = 15.02) years) underwent pre-test genetic-counselling. During the pre-counselling, 96% expressed interest in and 60% indicated a clear intention to undergo BRCA testing. Subsequently, 88% opted for BRCA testing. BRCA-related knowledge (P = 0.013) and degree-level education (P = 0.01) were positively and negatively (respectively) associated with intention-to-test. Being married/cohabiting had four-fold higher odds for BRCA testing uptake (P = 0.009). Perceived benefits were associated with higher pre-counselling odds for interest in and intention to undergo BRCA testing. Reduced uncertainty/reassurance were the most important factors contributing to decision-making. Increased importance/concern towards risks/limitations (confidentiality/insurance/emotional impact/inability to prevent cancer/marriage ability/ethnic focus/stigmatisation) were significantly associated with lower odds of uptake of BRCA testing, and discriminated between acceptors and decliners. Male gender/degree-level education (P = 0.001) had weaker correlations, whereas having children showed stronger (P = 0.005) associations with attitudes towards BRCA testing. Conclusions: BRCA testing in the AJ population has high acceptability. Pre-test counselling increases awareness of disadvantages/limitations of BRCA testing, influencing final cost-benefit perception and decision-making on undergoing testing. Tweetable abstract: BRCA testing in Ashkenazi Jews has high acceptability and uptake. Pre-test counselling facilitates informed decision-making.
MeSH term(s)	Adult ; Attitude to Health/ethnology ; Cultural Characteristics ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Counseling/psychology ; Genetic Predisposition to Disease/ethnology ; Genetic Predisposition to Disease/psychology ; Genetic Testing/economics ; Genetic Testing/statistics & numerical data ; Hereditary Breast and Ovarian Cancer Syndrome/ethnology ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/psychology ; Humans ; Jews/genetics ; Jews/psychology ; London ; Male ; Mutation ; Patient Participation/statistics & numerical data ; Socioeconomic Factors
Language	English
Publishing date	2019-03-18
Publishing country	England
Document type	Journal Article ; Randomized Controlled Trial
ZDB-ID	2000931-8
ISSN	1471-0528 ; 0306-5456 ; 1470-0328
ISSN (online)	1471-0528
ISSN	0306-5456 ; 1470-0328
DOI	10.1111/1471-0528.15654
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Article ; Online: Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term outcomes.

Manchanda, R / Burnell, M / Gaba, F / Desai, R / Wardle, J / Gessler, S / Side, L / Sanderson, S / Loggenberg, K / Brady, A F / Dorkins, H / Wallis, Y / Chapman, C / Jacobs, C / Legood, R / Beller, U / Tomlinson, I / Menon, U / Jacobs, I

BJOG : an international journal of obstetrics and gynaecology

2019 Volume 127, Issue 3, Page(s) 364–375

Abstract: Objective: Unselected population-based BRCA testing provides the opportunity to apply genomics on a population-scale to maximise primary prevention for breast-and-ovarian cancer. We compare long-term outcomes of population-based and family-history (FH)/ ... ...

Abstract	Objective: Unselected population-based BRCA testing provides the opportunity to apply genomics on a population-scale to maximise primary prevention for breast-and-ovarian cancer. We compare long-term outcomes of population-based and family-history (FH)/clinical-criteria-based BRCA testing on psychological health and quality of life. Design: Randomised controlled trial (RCT) (ISRCTN73338115) GCaPPS, with two-arms: (i) population-screening (PS); (ii) FH/clinical-criteria-based testing. Setting: North London Ashkenazi-Jewish (AJ) population. Population/sample: AJ women/men. Methods: Population-based RCT (1:1). Participants were recruited through self-referral, following pre-test genetic counselling from the North London AJ population. Inclusion criteria: AJ women/men >18 years old; exclusion-criteria: prior BRCA testing or first-degree relatives of BRCA-carriers. Interventions: Genetic testing for three Jewish BRCA founder-mutations: 185delAG (c.68_69delAG), 5382insC (c.5266dupC) and 6174delT (c.5946delT), for (i) all participants in PS arm; (ii) those fulfilling FH/clinical criteria in FH arm. Linear mixed models and appropriate contrast tests were used to analyse the impact of BRCA testing on psychological and quality-of-life outcomes over 3 years. Main outcome measures: Validated questionnaires (HADS/MICRA/HAI/SF12) used to analyse psychological wellbeing/quality-of-life outcomes at baseline/1-year/2-year/3-year follow up. Results: In all, 1034 individuals (691 women, 343 men) were randomised to PS (n = 530) or FH (n = 504) arms. There was a statistically significant decrease in anxiety (P = 0.046) and total anxiety-&-depression scores (P = 0.0.012) in the PS arm compared with the FH arm over 3 years. No significant difference was observed between the FH and PS arms for depression, health-anxiety, distress, uncertainty, quality-of-life or experience scores associated with BRCA testing. Contrast tests showed a decrease in anxiety (P = 0.018), health-anxiety (P < 0.0005) and quality-of-life (P = 0.004) scores in both PS and FH groups over time. Eighteen of 30 (60%) BRCA carriers identified did not fulfil clinical criteria for BRCA testing. Total BRCA prevalence was 2.9% (95% CI 1.97-4.12%), BRCA1 prevalence was 1.55% (95% CI 0.89-2.5%) and BRCA2 prevalence was 1.35% (95% CI 0.74-2.26%). Conclusion: Population-based AJ BRCA testing does not adversely affect long-term psychological wellbeing or quality-of-life, decreases anxiety and could identify up to 150% additional BRCA carriers. Tweetable abstract: Population BRCA testing in Ashkenazi Jews reduces anxiety and does not adversely affect psychological health or quality of life.
MeSH term(s)	Adult ; Anxiety/physiopathology ; Anxiety/prevention & control ; Early Detection of Cancer/methods ; Early Detection of Cancer/psychology ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease/psychology ; Genetic Testing/methods ; Genetic Testing/statistics & numerical data ; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis ; Hereditary Breast and Ovarian Cancer Syndrome/ethnology ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/psychology ; Humans ; Jews/genetics ; Jews/statistics & numerical data ; London/epidemiology ; Male ; Medical History Taking/statistics & numerical data ; Quality of Life ; Uncertainty
Language	English
Publishing date	2019-09-10
Publishing country	England
Document type	Journal Article ; Randomized Controlled Trial ; Research Support, Non-U.S. Gov't
ZDB-ID	2000931-8
ISSN	1471-0528 ; 0306-5456 ; 1470-0328
ISSN (online)	1471-0528
ISSN	0306-5456 ; 1470-0328
DOI	10.1111/1471-0528.15905
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Article ; Online: Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.

Clements, S E / Techanukul, T / Holden, S T / Mellerio, J E / Dorkins, H / Escande, F / McGrath, J A

The British journal of dermatology

2010 Volume 163, Issue 3, Page(s) 624–629

Abstract: Background: Rapp-Hodgkin syndrome (RHS) and Hay-Wells [also known as ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)] syndrome have been designated as distinct ectodermal dysplasia syndromes despite both disorders having overlapping clinical ... ...

Abstract	Background: Rapp-Hodgkin syndrome (RHS) and Hay-Wells [also known as ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)] syndrome have been designated as distinct ectodermal dysplasia syndromes despite both disorders having overlapping clinical features and the same mutated gene, TP63. Objectives: To search for TP63 mutations in two unrelated cases of RHS and two of AEC syndrome and to review the TP63 mutation database and clinical descriptions of affected individuals, the goal being to refine genotype-phenotype correlation and to determine the clinical/molecular justification for RHS and AEC continuing to exist as separate entities. Methods: Clinical examination of four affected cases and sequencing of genomic DNA using TP63-specific primers. Literature review of published clinical descriptions of RHS and AEC syndrome cases containing TP63 mutation data. Results: Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid-face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign. We identified two new and two recurrent heterozygous mutations in TP63: c.1456insA (p.Leu486fsX52), RHS; c.1537T>G (p.Phe513Val), RHS; c.1787delG (p.Gly596fsX68), AEC; and c.1682G>A (p.Gly561Asp), AEC. Including this study, 42 different mutations in TP63 in RHS and AEC have now been reported, three of which are exactly the same in both syndromes. Conclusions: Our clinicopathological and molecular findings indicate that there is no justification for the continued use of eponyms in referring to these particular ectodermal dysplasia syndromes. We support the view that the terms ‘Hay-Wells’ and ‘Rapp-Hodgkin’ should be abandoned in favour of the all-inclusive diagnosis ‘AEC syndrome’, notwithstanding the inconsistency or often transient nature of the ankyloblepharon.
MeSH term(s)	Abnormalities, Multiple/genetics ; Adult ; Cleft Lip/genetics ; Cleft Lip/pathology ; Cleft Palate/genetics ; Cleft Palate/pathology ; DNA Mutational Analysis ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia/pathology ; Eye Abnormalities/genetics ; Eye Abnormalities/pathology ; Eyelids/abnormalities ; Eyelids/pathology ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Mutation ; Phenotype ; Syndrome ; Trans-Activators/genetics ; Transcription Factors ; Tumor Suppressor Proteins/genetics
Chemical Substances	TP63 protein, human ; Trans-Activators ; Transcription Factors ; Tumor Suppressor Proteins
Language	English
Publishing date	2010-09
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80076-4
ISSN	1365-2133 ; 0007-0963
ISSN (online)	1365-2133
ISSN	0007-0963
DOI	10.1111/j.1365-2133.2010.09859.x
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Article ; Online: Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.

Human mutation

2020 Volume 42, Issue 1, Page(s) 3–7

Abstract: Documenting variation in our genomes is important for research and clinical care. Accuracy in the description of DNA variants is therefore essential. To address this issue, the Human Variome Project convened a committee to evaluate the feasibility of ... ...

Abstract	Documenting variation in our genomes is important for research and clinical care. Accuracy in the description of DNA variants is therefore essential. To address this issue, the Human Variome Project convened a committee to evaluate the feasibility of requiring authors to verify that all variants submitted for publication complied with a widely accepted standard for description. After a pilot study of two journals, the committee agreed that requiring authors to verify that variants complied with Human Genome Variation Society nomenclature is a reasonable step toward standardizing the worldwide inventory of human variation.
MeSH term(s)	DNA/genetics ; Genetic Variation ; Genome, Human ; Human Genome Project ; Humans ; Periodicals as Topic/standards ; Pilot Projects ; Publications/standards ; Terminology as Topic
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2020-12-10
Publishing country	United States
Document type	Guideline ; Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.24144
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Article ; Online: 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

Genetics in medicine : official journal of the American College of Medical Genetics

2018 Volume 21, Issue 7, Page(s) 1639–1643

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 ( ... ...

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.
MeSH term(s)	Female ; Humans ; Huntington Disease/diagnosis ; Male ; Pregnancy ; Preimplantation Diagnosis ; Prenatal Diagnosis ; Prospective Studies ; United Kingdom
Language	English
Publishing date	2018-12-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-018-0367-z
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In stock of ZB MED Cologne/Königswinter

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In stock of ZB MED Cologne/Königswinter

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In stock of ZB MED Cologne/Königswinter

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