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ارزیابی پیش از بارداری خطر برای ابتلا به تالاسمی، بیماری سلول داسی‏‌شکل، فیبروز سیستیک و بیماری تای‐‌ساکس

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Referencias

Alhamdan 2007 {published data only}

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. CENTRAL

Bekker 1993 {published data only}

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. CENTRAL

Castellani 2011 {published data only}

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. CENTRAL

Cheuvront 1998 {published data only}

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. CENTRAL
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. CENTRAL

Childs 1976 {published data only}

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. CENTRAL
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. CENTRAL

Clayton 1996 {published data only}

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. CENTRAL

Fisher 1981 {published data only}

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. CENTRAL
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Hegwer 2006 {published data only}

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. CENTRAL

Henneman 2001 {published data only}

Henneman L, Bramsen I, van Kempen L, van Acker MB, Pals G, van der 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. CENTRAL
Henneman L, Bramsen I, van der Ploeg HM, Ader HJ, van der 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. CENTRAL
Henneman L, Bramsen I, van der Ploeg, ten Kate, LP. Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. Genetic Testing 2002;6(3):195‐202. CENTRAL
Lakeman PL, Plass AMC, Henneman L, Bezemer PD, Cornel MC, ten 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. CENTRAL

Honnor 2000 {published data only}

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. CENTRAL

Payne 1997 {published data only}

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. CENTRAL

Tambor 1994 {published data only}

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. CENTRAL

Temme 2015 {published data only}

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]CENTRAL
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]CENTRAL

Watson 1991 {published data only}

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. CENTRAL
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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]CENTRAL

Kauffman 2017 {published data only}

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]CENTRAL

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Characteristics of studies

Characteristics of excluded studies [ordered by study ID]

Study

Reason for exclusion

Alhamdan 2007

Participants: couples planning to marry and applying for marriage licence

Intervention: premarital screening programme for sickle cell and beta‐thalassemia

Comparator: none

Outcome: number confirmed sickle cell and beta thalassemia carriers, decision for marriage

Design: observational, cross‐sectional study

Excluded due to non‐RCT design

Bekker 1993

Participants: adults 18 ‐ 45 years

Intervention: genetic carrier testing for cystic fibrosis

Comparator: none

Outcome: anxiety

Design: observational, before and after intervention study

Excluded due to non‐RCT study design

Castellani 2011

Participants: infertile couples undergoing cystic fibrosis screening as part of assisted reproduction process

Intervention: genetic counselling via computer program

Comparator: standard care genetic counselling session

Outcome: knowledge

Design: RCT

Excluded because intervention was method of delivering genetic counselling and not preconception genetic carrier testing or screening compared to standard care

Cheuvront 1998

Participants: relatives of people with cystic fibrosis

Intervention: home‐based pretest education from pamphlet with genetic test

Comparator: clinic based pretest education via genetic counselling with genetic test

Outcome: anxiety, knowledge, satisfaction, reproductive intent

Design: RCT

Excluded because intervention was method of delivering genetic counselling and not preconception genetic carrier testing or screening compared to standard care

Childs 1976

Participants: carriers of Tay‐Sachs disease identified prospectively or retrospectively during population screening

Intervention: genetic carrier population screening

Comparator: none

Outcomes: knowledge, attitudes, anxiety, concerns, satisfaction

Design: observational, cross‐sectional

Excluded due to non‐RCT study design

Clayton 1996

Participants: non‐pregnant adults visiting clinical and non‐clinical sites

Intervention: genetic carrier testing for cystic fibrosis

Comparator: none

Outcome: attitudes, beliefs

Design: observational, before and after intervention design

Excluded due to non‐RCT study design

Fisher 1981

Participants: adults carriers of beta‐thalassaemia 18 ‐ 65 years in a HMO

Intervention: genetic counselling through video

Comparator: conventional counselling by trained physician

Outcome: knowledge, sexual activity, mood change, behaviour, anxiety

Design: RCT

Excluded because intervention is not preconception genetic carrier testing or screening

Hegwer 2006

Participants: adults of Ashkenazi Jewish background in prenatal and preconception settings

Intervention: genetic carrier screening and education programme for Tay‐Sachs disease

Comparator: none

Outcome: knowledge, concern, attitudes, perceptions of genetic risk

Design: observational, before and after intervention

Excluded due to non‐RCT study design

Henneman 2001

Participants: adults aged 20 ‐ 35 years invited through Municipal Health Service or General Practitioner

Intervention: genetic carrier screening for cystic fibrosis

Comparator: none

Outcome: knowledge, attitudes, understanding, satisfaction, psychological well‐being, uptake, worry, reproductive intentions, sharing of information

Design: observational, before and after intervention

Excluded due to non‐RCT study design

Honnor 2000

Participants: adults 18 ‐ 50 years in a primary care setting

Intervention: genetic carrier testing and counselling for cystic fibrosis

Comparator: none

Outcome: anxiety, knowledge

Design: observational, before and after intervention

Excluded due to non‐RCT study design

Payne 1997

Participants: adults 16 ‐ 45 years in one primary care practice in South Wales

Intervention: genetic carrier testing for cystic fibrosis

Comparator: none

Outcome: knowledge, anxiety

Design: observational, before and after intervention

Excluded due to non‐RCT study design

Tambor 1994

Participants: adults 18 ‐ 44 years in a HMO

Intervention: invitation offering cystic fibrosis carrier screening and information giving either by personal education on‐site or by mailed brochure

Comparator: none

Outcome: attitudes, tolerance, utilization

Design: observational, before and after intervention

Excluded due to non‐RCT study design

Temme 2015

Participants: Parents of infants with positive newborn screening results for cystic fibrosis and one identified CFTR mutation

Intervention: Genetic counselling plus four‐minute video on cystic fibrosis

Comparator: Genetic counselling only

Outcome: Knowledge: understanding of carrier status, autosomal recessive inheritance, the newborn screening process, and symptoms of CF

Design: RCT

Excluded due to intervention was method of delivering genetic counselling and education and not preconception genetic carrier testing or screening

Watson 1991

Participants: adults 16 ‐ 44 years from primary care practices and family planning clinics

Intervention: genetic carrier testing for cystic fibrosis

Comparator: none

Outcome: anxiety, response to positive results, knowledge, reproductive intentions, behaviour

Design: observational, before and after intervention

Excluded due to non‐RCT study design

Wilkie 2013

Participants: adults 18 ‐ 35 years with sickle cell disease or sickle cell trait from clinics and community settings

Intervention: web‐based multimedia educational intervention

Comparator: usual care information e‐book

Outcome: knowledge, reproductive intent and behaviour

Design: randomised controlled trial

Excluded because intervention was the delivery of education and not preconception genetic carrier testing or screening

HMO: health maintenance organisation
RCT: randomised controlled trial

Characteristics of ongoing studies [ordered by study ID]

Kauffman 2017

Trial name or title

Design of a randomised controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

Methods

Randomised controlled trial

Participants

Women who received carrier screening for cystic fibrosis

Interventions

Genome sequencing

Outcomes

Patient‐reported outcomes (PROs), economic outcomes

Starting date

2017

Contact information

Centre for Health Research, Kaiser Permanente Northwest, 3800 N Interstate Ave. USA

Notes

Study flow diagram
Figuras y tablas -
Figure 1

Study flow diagram