Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Mar 14;3(3):CD010849.
doi: 10.1002/14651858.CD010849.pub3.

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease

Norita Hussein  1 , Stephen F Weng, Joe Kai, Jos Kleijnen, Nadeem Qureshi
Affiliations

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease

Norita Hussein et al. Cochrane Database Syst Rev. .

Update in

Abstract

Background: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. This is an update of a previously published review.

Objectives: To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care.

Search methods: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials.Date of latest search of the registers: 20 June 2017.Date of latest search of all other sources: 16 November 2017.

Selection criteria: Any randomised or quasi-randomised controlled trials (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease when compared to usual care.

Data collection and analysis: We identified 25 papers, describing 16 unique trials which were potentially eligible for inclusion in the review. However, after assessment, no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were found.

Main results: No randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were included. One ongoing trial has been identified which may potentially eligible for inclusion once completed.

Authors' conclusions: As no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, or Tay-Sachs disease were found for inclusion in this review, the research evidence for current policy recommendations is limited to non-randomised studies.Information from well-designed, adequately powered, randomised trials is desirable in order to make more robust recommendations for practice. However, such trials must also consider the legal, ethical, and cultural barriers to implementation of preconception genetic risk assessment.

PubMed Disclaimer

Conflict of interest statement

Dr Nadeem Qureshi and Dr Joe Kai are investigators on a UK National Institute of Health research project evaluating preconception screening in primary care and plan to pursue further research in this area. Dr Qureshi is also collaborating on a project to evaluate the evidence base relevant to NICE guidelines behind primary care.

Professor Jos Kleijnen declares Kleijnen Systematic Reviews Ltd has received project funding from various pharmaceutical companies for work in unrelated areas.

For the remaining authors there are no known declarations of interest.

Figures

1
1
Study flow diagram
See this image and copyright information in PMC

Update of

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

References to studies excluded from this review

Alhamdan 2007 {published data only}
    1. Alhamdan NA, Almazrou YY, Alswaidi FM, Choudhry AJ. Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genetics in Medicine 2007;9(6):372‐7. - PubMed
Bekker 1993 {published data only}
    1. Bekker H, Modell M, Denniss G, Silver A, Mathew C, Bobrow M, Marteau T. Uptake of cystic fibrosis testing in primary care: supply push or demand pull?. British Medical Journal 1993;306(6892):1584‐6. - PMC - PubMed
Castellani 2011 {published data only}
    1. Castellani C, Perobelli S, Bianchi V, Seia M, Melotti P, Zanolla L, et al. An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests. American Journal of Medical Genetics 2011;155A(4):778‐85. - PubMed
Cheuvront 1998 {published data only}
    1. Callanan NP, Cheuvront B, Sorenson JR. CF Carrier testing in a high risk population: Anxiety,risk perceptions, and reproductive plans of carrier by "non‐carrier'' couples. Genetics in Medicine 1999;1(7):323‐7. - PubMed
    1. Cheuvront B, Sorenson JR, Callanan NP, Stearns SC, DeVellis BM. Psychosocial and educational outcomes associated with home‐ and clinic‐based pretest education and cystic fibrosis carrier testing among a population of at‐risk relatives. American Journal of Medical Genetics 1998;75(5):461‐8. - PubMed
Childs 1976 {published data only}
    1. Childs B, Gordis L, Kaback MM, Kazazian HH. Tay‐Sachs screening: motives for participating and knowledge of genetics and probability. American Journal of Human Genetics 1976;28(6):537‐49. - PMC - PubMed
    1. Childs B, Gordis L, Kaback MM, Kazazian HH. Tay‐Sachs screening: social and psychological impact. American Journal of Human Genetics 1976;28(6):550‐8. - PMC - PubMed
Clayton 1996 {published data only}
    1. Clayton EW, Hannig VL, Pfotenhauer JP, Parker RA, Campbell PW, Phillips JA. Lack of interest by nonpregnant couples in population‐based cystic fibrosis carrier screening. American Journal of Human Genetics 1996;58(3):617‐27. - PMC - PubMed
Fisher 1981 {published data only}
    1. Fisher L, Rowley PT, Lipkin JR. Genetic counselling for beta‐thalassemia trait following health screening in a health maintenance organization:comparison of programmed and conventional counselling. American Journal of Human Genetics 1981;33(6):987‐94. - PMC - PubMed
    1. Rowley PT, Fisher L, Lipkin JR. Screening and genetic counselling for thalassemia trait in a population unselected for interest: effects on knowledge and mood. American Journal of Human Genetics 1979;31(6):718‐30. - PMC - PubMed
    1. Rowley PT, Lipkin M Jr, Fisher L. Screening and genetic counselling for beta‐thalassemia trait in a population unselected for interest: comparison of three counselling methods. American Journal of Human Genetics 1984;36(3):677‐89. - PMC - PubMed
Hegwer 2006 {published data only}
    1. Hegwer G, Fairley C, Charrow J, Ormond KE. Knowledge and attitudes toward a free education and Ashkenazi Jewish carrier testing program. Journal of Genetic Counseling 2006;15(1):61‐70. - PubMed
Henneman 2001 {published data only}
    1. Henneman L, Bramsen I, Kempen L, Acker MB, Pals G, Horst HE, et al. Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services. Community Genetics 2003;6(1):5‐13. - PubMed
    1. Henneman L, Bramsen I, Ploeg HM, Ader HJ, Horst HE, Gille JJP, et al. Participation in preconceptional carrier couple screening: characteristics, attitudes, and knowledge of both partners. Journal of Medical Genetics 2001;38(10):695‐703. - PMC - PubMed
    1. Henneman L, Bramsen I, Ploeg, ten Kate, LP. Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. Genetic Testing 2002;6(3):195‐202. - PubMed
    1. Lakeman PL, Plass AMC, Henneman L, Bezemer PD, Cornel MC, Kate LP. Three‐month follow‐up of Western and non‐Western participants in a study on preconceptional ancestry based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands. Genetics in Medicine 2008;10(11):820‐30. - PubMed
Honnor 2000 {published data only}
    1. Honnor M, Zubrick SR, Walpole I, Bower C, Goldblatt J. Population screening for cystic fibrosis in Western Australia: community response. American Journal of Medical Genetics 2000;93(3):198‐204. - PubMed
Payne 1997 {published data only}
    1. Payne Y, Williams M, Cheadle J, Stott NC, Rowlands M, Shickle D, et al. Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales. The South Wales Cystic Fibrosis Carrier Screening Research Team. Clinical Genetics 1997;51(3):153‐63. - PubMed
Tambor 1994 {published data only}
    1. Tambor ES, Bernhardt BA, Chase GA, Faden RR, Geller G, Hofman KJ, et al. Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. American Journal of Human Genetics 1994;55:626‐37. - PMC - PubMed
Temme 2015 {published data only}
    1. Temme R, Gruber A, Johnson M, Read L, Liu M, Lu Y, et al. Quality improvement in genetic counseling following false positive newborn screen results for cystic fibrosis: assessment of parental knowledge with the use of an educational video. Pediatric Pulmonology 2013;48 Suppl 36:374. [Abstract no.: 461; CFGD Register: PC14a]
    1. Temme R, Gruber A, Johnson M, Read L, Lu Y, McNamara J. Assessment of parental understanding of positive newborn screening results and carrier status for cystic fibrosis with the use of a short educational video. Journal of Genetic Counseling 2015;24(3):473‐81. [CFGD Register: PC14b; DOI: 10.1007/s10897-014-9767-7] - DOI - PubMed
Watson 1991 {published data only}
    1. Watson EK, Mayall ES, Chapple J, Dalziel M, Harrington K, Williams C, et al. Screening for carriers of cystic fibrosis through primary health care services. British Medical Journal 1991;303(6801):504‐7. - PMC - PubMed
    1. Watson EK, Mayall ES, Lamb J, Chapple J, Williamson R. Psychological and social consequences of community carrier screening programme for cystic fibrosis. Lancet 1992;340(8813):217‐20. - PubMed
Wilkie 2013 {published data only}
    1. Wilkie DJ, Gallo AM, Yao Y, Molokie RE, Stahl C, Hershberger PE, et al. Reproductive health choices for young adults with sickle cell disease or trait: randomized controlled trial immediate posttest effects. Nursing Research 2013;62(5):352‐61. [CENTRAL: 909226; CFGD Register: SC237 ; CRS: 5500050000000054; EMBASE: 23995469; PUBMED: 23995469] - PMC - PubMed

References to ongoing studies

Kauffman 2017 {published data only}
    1. Kauffman TL, Wilfond BS, Jarvik GP, Leo MC, Lynch FL, Reiss JA, et al. Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing. Contemporary Clinical Trials 2017;53:100‐5. [DOI: 10.1016/j.cct.2016.12.007] - DOI - PMC - PubMed

Additional references

Abbot 1996
    1. Abbot J, Dodd M, Webb AK. Health perceptions and treatment adherence in adults with cystic fibrosis. Thorax 1996;51(12):1233‐8. - PMC - PubMed
ACOG Committee Opinion 2005
    1. American College of Obstetricians and Gynecologists. Screening for Tay‐Sachs disease. ACOG Committee Opinion No. 318. Obstetrics & Gynecology 2005;106:893‐4. - PubMed
ACOG Committee Opinion 2009
    1. American College of Obstetricians and Gynecologists. Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. ACOG Committee Opinion No. 442 Obstetrics & Gynecology 2009; Vol. 114:950‐3. - PubMed
Alswaidi 2009
    1. Alswaidi FM, O'Brien SJ. Premarital screening programmes for haemoglobinopathies, HIV and hepatitis viruses: review and factors affecting their success. Journal of Medical Screening 2009;16(1):22‐8. - PubMed
Alwan 1997
    1. Alwan A, Modell B. Community control of genetic and congenital disorders. EMRO Technical Publication 24. Alexandria: Eastern Mediterranean Regional Office: World Health Organization, 1997.
Angastiniotis 1981
    1. Angastiniotis MA, Hadjiminas MG. Prevention of thalassaemia in Cyprus. Lancet 1981;1(8216):369‐71. - PubMed
Angastiniotis 1995
    1. Angastiniotis M, Modell B, Englezos P, Boulyjenkov V. Prevention and control of haemoglobinopathies. Bulletin of the World Health Organization 1995;73(3):375‐86. - PMC - PubMed
Angastiniotis 1998
    1. Angastiniotis M, Modell B. Global epidemiology of haemoglobin disorders. Annals of the New York Academy of Sciences 1998;850:251‐69. - PubMed
Anido 2005
    1. Anido A, Carlson LM, Taft L, Sherman SL. Women's attitudes toward testing for fragile X carrier status: a qualitative analysis. Journal of Genetic Counselling 2005;14(4):295‐306. - PubMed
Archibald 2011
    1. Archibald AD, Wilford BS. Population carrier screening: psychological impact. Encyclopedia of Life Sciences 2011. [DOI: 10.1002/9780470015902.a0005641.pub2] - DOI
Bach 2001
    1. Bach G, Tomczak J, Risch N, Ekstein J. Tay‐Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. American Journal of Medical Genetics 2001;99(1):70‐5. - PubMed
Barbarin 1999
    1. Barbarin OA, Whitten CF, Bond S, Conner‐Warren R. The social and cultural of coping with sickle cell disease: the role of financial hardship in adjustment to sickle cell disease. Journal of Black Psychology 1999;23(3):294‐315.
Bekker 1994
    1. Bekker H, Denniss G, Modell M, Bobrow M, Marteau T. The impact of population based screening for carriers of cystic fibrosis. Journal of Medical Genetics 1994;31(5):364‐8. - PMC - PubMed
Bell 2011
    1. Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, et al. Carrier Testing for Severe Childhood Recessive Diseases by Next‐Generation Sequencing. Science Translational Medicine 2011;3(65):65ra4. - PMC - PubMed
Bonham 2010
    1. Bonham VL, Dover GJ, Brody LC. Screening student athletes for sickle cell trait: a social and clinical experiment. New England Journal of Medicine 2010;363(11):997‐9. - PubMed
Borry 2011
    1. Borry P, Henneman L, Lakeman P, Kate LP, Cornel MC, Howard HC. Preconceptional genetic carrier testing and the commercial offer directly‐to‐consumers. Human Reproduction 2011;26(5):972‐7. - PMC - PubMed
Boulton 1996
    1. Boulton M, Cummings C, Williamson R. The views of general practitioners on community carrier screening for cystic fibrosis. British Journal of General Practice 1996;46(406):299‐301. - PMC - PubMed
Bregnballe 2007
    1. Bregnballe V, Thastum M, Schiøtz PO. Psychosocial problems in children with cystic fibrosis. Acta Paediatrica 2007;96(1):58‐61. - PubMed
Cao 1996
    1. Cao A, Rosatelli MC, Gallanello R. Control of beta‐thalassaemia by carrier screening, genetic counselling, and prenatal diagnosis: the Sardinian experience. Ciba Foundation Symposium 1996;197:137‐51. - PubMed
Castellani 2010
    1. Castellani C, Macek M Jr, Cassiman JJ, Duff A, Massie J, Kate LP, et al. Benchmarks for cystic fibrosis carrier screening: a European consensus document. Journal of Cystic Fibrosis 2010;9(3):165‐78. - PubMed
CDC 2004
    1. Grosse SD, Boyle CA, Botkin JR, Comeau AM, Kharrazi M, Rosenfeld M, et al. Newborn screening for cystic fibrosis. Evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recommendations Report 2004; Vol. 53, issue RR‐13:1‐36. - PubMed
Christie 2009
    1. Christie LM, Ingret AJ, Turner GM. Outcomes of a cystic fibrosis carrier testing clinic for couples. Medical Journal of Australia 2009;191(9):499‐501. - PubMed
Czeizel 2012
    1. Czeizel AE. Experience of the Hungarian Preconception Service between 1984 and 2010. European Journal of Obstetrics & Gynecology and Reproductive Biology 2012;161(1):18‐25. - PubMed
Davies 2000
    1. Davies SC, Cronin E, Gill M, Greengross P, Hickman M, Normand C. Screening for sickle cell disease and thalassaemia: a systematic review with supplementary research. Health Technology Assessment 2000;4(3):1‐99. - PubMed
Donner 1980
    1. Donner A, Koval JJ. The estimation of intraclass correlation in the analysis of family data. Biometrics 1980;36(1):19‐25. - PubMed
Dormandy 2008
    1. Dormandy E, Gulliford MC, Reid EP, Brown K, Marteau TM. Delay between pregnancy confirmation and sickle cell and thalassaemia screening: a population‐based cohort study. British Journal of General Practice 2008;58(548):154‐9. - PMC - PubMed
Dyson 2006
    1. Dyson SM, Culley LA, Gill C, Hubbard S, Kennefick A, Morris P, et al. Ethnicity questions and antenatal screening for sickle cell/thalassaemia [EQUANS] in England: A randomized controlled trial of two questionnaires. Ethnicity and Health 2006;11(2):169‐89. - PubMed
EndNote X3 [Computer program]
    1. Thomson Reuters. EndNote X3. Thomson Reuters, 2009.
Fanos 1995
    1. Fanos JH, Johnson JP. Barriers to carrier testing for adult cystic fibrosis sibs: the importance of not knowing. American Journal of Medical Genetics 1995;59(1):85‐91. - PubMed
Fowzan 2001
    1. Fowzan S, Alkuraya, Ramzi AK. Attitude of Saudi families affected with hemoglobinopathies towards prenatal screening and abortion and the influence of religious ruling (Fatwa). Prenatal Diagnosis 2001;21(6):448‐51. - PubMed
Gharaibeh 2009
    1. Gharaibeh H, Amarneh BH, Zamzam SZ. The psychological burden of patients with beta thalassemia major in Syria. Pediatrics International 2009;51(5):630‐6. - PubMed
Glasscoe 2008
    1. Glasscoe CA, Quittner AL. Psychological interventions for people with cystic fibrosis and their families. Cochrane Database of Systematic Reviews 2008, Issue 3. [DOI: 10.1002/14651858.CD003148.pub2] - DOI - PubMed
Health Council of Netherlands 2007
    1. Health Council of Netherlands. Preconception care: A good beginning. The Hague: Health Council of Netherlands 2007. [ISBN: 978‐90‐5549‐678‐5]
Heyes 2004
    1. Heyes T, Long S, Mathers N. Preconception care. Practice and beliefs of primary care workers. Family Practice 2004;21(1):22‐7. - PubMed
Higgins 2002
    1. Higgins JPT, Thompson SG. Quantifying heterogeneity in a meta‐analysis. Statistics in Medicine 2002;21(11):1539‐58. - PubMed
Higgins 2011
    1. Higgins JPT, Altman DG, Sterne JAC on behalf of the Cochrane Statistical Methods Group and the Cochrane Bias Methods Group (editors). Chapter 8: Assessing risk of bias in included studies. In: Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from www.cochrane‐handbook.org.
Human Genetics Commission 2011
    1. Human Genetics Commission. Increasing options, informing choice: A report on preconception genetic testing and screening. Human Genetics Commission. UK, 2011.
Johnson 2006
    1. Johnson K, Posner SF, Biermann J, Cordero JF, Atrash HK, Parker CS, et al. Recommendations to improve preconception health and health care‐‐United States. A report of the CDC/ATSDR Preconception Care Work Group and the Select Panel on Preconception Care. MMWR Recommendation Report 2006; Vol. 55, issue RR‐6:1‐23. - PubMed
Jones 2002
    1. Jones SL, Fallon LA. Reproductive options for individuals at risk for transmission of a genetic disorder. Journal of Obstetric, Gynecologic, & Neonatal Nursing 2002;31(2):193‐9. - PubMed
Kaback 2000
    1. Kaback MM. Population‐based genetic screening for reproductive counselling: the Tay‐Sachs disease model. European Journal of Pediatrics 2000;159(3):192‐5. - PubMed
Kenen 1978
    1. Kenen RH, Schmidt RM. Stigmatization of carrier status: social implications of heterozygote genetic screening programs. American Journal of Public Health 1978;68(11):1116‐20. - PMC - PubMed
Lapham 1996
    1. Lapham EV, Kozma C, Weiss JO. Genetic discrimination: perspectives of consumers. Science 1996;274(5287):621‐4. - PubMed
Lau 1997
    1. Lau YL, Chan LC, Chan YY, Ha SY, Yeung CY, Waye JS, et al. Prevalence and genotypes of alpha‐ and beta‐thalassemia carriers in Hong Kong ‐‐ implications for population screening. New England Journal of Medicine 1997;336(18):1298‐301. - PubMed
Lena‐Russo 2002
    1. Lena‐Russo D, Badens C, Aubinaud M, Merono F, Paolasso C, Martini N, et al. Outcome of a school screening programme for carriers of haemoglobin disease. Journal of Medical Screening 2002;9(2):67‐9. - PubMed
Lew 2014
    1. Lew RM, Burnett L, Proos AL, Barlow‐Stewart K, Delatychi MB, Bankier A, et al. Ashkenazi Jewish population screening for Tay–Sachs disease: the international and Australian experience. Journal of Paediatrics and Child Health 2014;51(3):271‐9. - PubMed
Lewis 2011
    1. Lewis C, Skirton H, Jones R. Reproductive empowerment: The main motivator and outcome of carrier testing. Journal of Health Psychology 2011;17(4):567‐78. - PubMed
Locock 2008
    1. Locock L, Kai J. Parents' experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era. British Journal of General Practice 2008;58(548):161‐8. - PMC - PubMed
Loukopoulos 1996
    1. Loukopoulos D. Current status of thalassemia and the sickle cell syndromes in Greece. Seminars in Hematology 1996;33(1):76‐86. - PubMed
Massie 2009
    1. Massie J, Petrou V, Forbes R, Curnow L, Ioannou L, Bankier A, et al. Population‐based carrier screening for cystic fibrosis in Victoria: The first three years experience. Australian and New Zealand Journal of Obstetrics and Gynaecology 2009;49(5):484‐9. - PubMed
Mennie 1998
    1. Mennie M, Campbell H, Liston WA, Brock DJ. Attitudes of general practitioners to screening for cystic fibrosis. Journal of Medical Screening 1998;5(1):11‐5. - PubMed
Mitchell 1996
    1. Mitchell JJ, Capua A, Clow C. Twenty‐year outcome analysis of genetic screening programs for Tay‐Sachs and β‐Thalassemia disease carriers in high schools. American Journal of Medical Genetics 1996;59:793‐8. - PMC - PubMed
Modell 1980a
    1. Modell B, Mouzouras M, Camba L, Ward RHT, Fairweather DVI. Population screening for carriers of recessively inherited disorders. Lancet 1980;316(8198):806. - PubMed
Modell 1980b
    1. Modell B, Ward RHT, Fairweather DVI. Effect of introducing antenatal diagnosis on reproductive behaviour of families at risk for thalassaemia major. British Medical Journal 1980;280(6228):1347‐50. - PMC - PubMed
Modell 2001
    1. Modell B, Khan M, Darlison M, King A, Layton M, Old J, et al. A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom. Bulletin of the World Health Organization 2001;79(11):1006‐13. - PMC - PubMed
Modell 2008
    1. Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bulletin of the World Health Organization 2008;86(6):480‐7. - PMC - PubMed
Murray 1999
    1. Murray J, Cuckle H, Taylor G, Littlewood J, Hewison J. Screening for cystic fibrosis. Health Technology Assessment 1999; Vol. 3, issue 8. - PubMed
National Screening Committee 2003
    1. UK National Screening Committee. Criteria for screening programmes. http://www.screening.nhs.uk/criteria (accessed 22 July 2014).
NHS Screening Programme 2013
    1. NHS Sickle Cell & Thalassaemia Screening Programme. United Kingdom National Screening Programmes Information Strategy. http://sct.screening.nhs.uk (accessed 8 January 2013).
Nuffield Council on Bioethics 1993
    1. Nuffield Council on Bioethics. Genetic screening: ethical issues. Nuffield Council on Bioethics. London, 1993. [ISBN: 0 9522701 0 2]
Palomaki 1995
    1. Palomaki GE, William J, Haddow JE, Natowicz MR. Tay‐Sachs disease in persons of French‐Canadian heritage in northern New England. American Journal of Medical Genetics 1995;56(4):409‐12. - PubMed
Peters 2012
    1. Peters M, Heijboer H, Smiers F, Giordano PC. Diagnosis and management of thalassaemia. BMJ 2012;344:e228. - PubMed
Petersen 1983
    1. Petersen GM, Rotter JI, Cantor RM, Field LL, Greenwald S, Lim JS, et al. The Tay‐Sachs disease gene in North American Jewish populations: geographic variations and origin. American Journal of Human Genetics 1983;35(6):1258‐69. - PMC - PubMed
PFASP England 2013
    1. NHS Sickle Cell and Thalassaemia Screening Programme Centre. Policy Framework for Antenatal Screening Programme for England. http://sct.screening.nhs.uk/cms.php?folder=2424 (accessed 2 September 2013).
Poppelaars 2004
    1. Poppelaars FAM, Ader HJ, Cornel MC, Henneman L, Hermens RPMG, Wal G, et al. Attitudes of potential providers towards preconceptional cystic fibrosis carrier screening. Journal of Genetic Counseling 2004;13(1):31‐44. - PubMed
Qureshi 2004
    1. Qureshi N, Modell B, Modell M. Raising the profile of genetics in primary care. Nature Reviews Genetics 2004;5(10):783‐90. - PubMed
Ratip 1996
    1. Ratip S, Modell B. Psychological and sociological aspects of the thalassemias. Seminars in Hematology 1996;33(1):53‐65. - PubMed
RevMan 2014 [Computer program]
    1. The Nordic Cochrane Centre, The Cochrane Collaboration. Review Manager (RevMan). Version 5.3. Copenhagen: The Nordic Cochrane Centre, The Cochrane Collaboration, 2014.
Rose 1999
    1. Rose P. Humm E, Hey K, Jones L, Huson SM. Family history taking and genetic counselling in primary care. Family Practice 1999;16(1):78‐83. - PubMed
Samavat 2004
    1. Samavat A, Modell B. Iranian national thalassaemia screening programme. BMJ 2004;329(7475):1134. - PMC - PubMed
Shapira 2006
    1. Shapira SK, Dolan S. Genetic risks to the mother and the infant: assessment, counselling, and management. Maternal & Child Health Journal 2006;10(5):143‐6. - PMC - PubMed
Smith 2003
    1. Smith RA, Mettlin CJ, Eyre H. Methodologic issues in the evaluation of early detection programs. In: Kufe DW, Pollock RE, Weichselbaum RR editor(s). Holland‐Frei Cancer Medicine. 6th Edition. Hamilton (ON): BC Decker, 2003.
Sterne 2011
    1. Sterne JAC, Egger M, Moher D on behalf of the Cochrane Bias Methods Group (editors). Chapter 10: Addressing reporting bias. In; Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. Available from www.cochrane‐handbook.org.
Teeuw 2010
    1. Teeuw ME, Henneman L, Bochdanovits Z, Heutink P, Kuik DJ, Corneland MC, et al. Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical‐by‐descent than similarly‐related parents with healthy offspring? Design of a case‐control study. BMC Medical Genetics 2010;11:113. - PMC - PubMed
Telfer 2005
    1. Telfer P, Constantinidou G, Andreou P, Christou S, Modell B, Angastiniotis M. Quality of life in thalassemia. Annals of the New York Academy of Sciences 2005;1054(1):273‐82. - PubMed
Ukoumunne 1999
    1. Ukoumunne OC, Gulliford MC, Chinn S, Sterne JA, Burney PG. Methods for evaluating area‐wide and organisation‐based interventions in health and health care: a systematic review. Health Technology Assessment 1999;3(5):iii‐92. - PubMed
Watson 1999
    1. Watson EK, Shickle D, Qureshi N, Emery J, Austoker J. The 'new genetics' and primary care: GPs' view on their role and their educational needs. Family Practice 1999;16(4):420‐5. - PubMed
Weatherall 1997
    1. Weatherall D. ABC of clinical haematology: the hereditary anaemias. British Medical Journal 1997;314(7079):492‐6. - PMC - PubMed
Whitten 1973
    1. Whitten CF. Sickle‐cell programming: an imperilled promise. New England Journal of Medicine 1973;288(6):318‐9. - PubMed
WHO 1968
    1. Wilson JMG, Jungner G. Principles and practice of screening for disease. Geneva: World Health Organization, 1968.
WHO 1999
    1. WHO, World Alliance for the Prevention of Birth Defects. Services for the prevention and management of genetic disorders and birth defects in developing countries. WHO Human Genetics Programme; 1999 Jan 5–7; The Hague. Netherlands. 1999.
WHO 2000
    1. World Health Organization. Genes and Human Disease. www.who.int/genomics/public/geneticdiseases/en/index2.html (accessed 8 May 2013), issue Publication no. 2007/19E. [ISBN: 978‐90‐5549‐678‐5]
Wille 2004
    1. Wille MC, Weitz B, Kerper P, Frazier S. Advances in preconception genetic counselling. Journal of Perinatal & Neonatal Nursing 2004;18(1):28‐40. - PubMed
Yusuf 2011
    1. Yusuf HR, Lloyd‐Puryear MA, Grant AM, Parker CS, Creary MS, Atrash HK. Sickle cell disease: the need for a public health agenda. American Journal of Preventive Medicine 2011;41(6):376‐83. - PubMed
Zeesman 1984
    1. Zeesman S, Clow CL, Cartier L, Scriver CR. A private view of heterozygosity: eight‐year follow‐up study on carriers of the Tay‐Sachs gene detected by high school screening in Montreal. American Journal of Medical Genetics 1984;18(4):769‐78. - PubMed
Zeuner 1999
    1. Zeuner D, Ades AE, Karnon J. Antenatal and neonatal haemoglobinopathy screening in the UK: review and economic analysis. Health Technology Assessment 1999;3(11):1‐186. - PubMed

References to other published versions of this review

Hussein 2015
    1. Hussein N, Weng SF, Kai J, Kleijnen J, Qureshi N. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay‐Sachs disease. Cochrane Database of Systematic Reviews 2015, Issue 8. [DOI: 10.1002/14651858.CD010849.pub2] - DOI - PMC - PubMed

Publication types