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

Norita Hussein; Lidewij Henneman; Joe Kai; Nadeem Qureshi

doi:10.1002/14651858.CD010849.pub4

Evaluación del riesgo de talasemia, anemia drepanocítica, fibrosis quística y enfermedad de Tay‐Sachs antes de la concepción

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Referencias adicionales

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Referencias de otras versiones publicadas de esta revisión

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estudios excluidos
otras referencias

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. Art. No: CD010849. [DOI: 10.1002/14651858.CD010849.pub2]

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 2018, Issue 3. Art. No: CD010849. [DOI: 10.1002/14651858.CD010849.pub3]

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
Archibald 2017	Participants: woman prior to pregnancy or early in pregnancy (recommended ≤ 12 weeks gestation) Intervention: simultaneous genetic carrier testing for CF, FXS and SMA Comparator: none Outcome: number of carriers for CF, FXS and SMA Design: observational, cross‐sectional Excluded due to non‐RCT study 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 CF 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 CF Comparator: none Outcome: attitudes, beliefs Design: observational, before and after intervention design Excluded due to non‐RCT study design
Fan 2018	Participants: adults > 18 years old with no known carriers status Intervention: educational online module for carrier screening for Tay Sach disease Comparator: in person genetic counselling Outcome: post‐interventional genetics knowledge, perception of genetic risk score and anxiety score Design: RCT Excluded due intervention is not preconception genetic carrier testing or screening and participants are not known carrier status
Fisher 1981	Participants: adults carriers of beta‐thalassaemia 18 ‐ 65 years in a HMO Intervention: genetic counselling through video Comparator: conventional counselling by a trained physician Outcome: knowledge, sexual activity, mood change, behaviour, anxiety Design: RCT Excluded because the 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
Moudi 2016	Participants: couples went for pre‐marital counselling center Intervention: motivational interviewing before carrier screening for thalassaemia Comparator: usual care Outcome: screening rate Design: RCT Excluded due intervention is not preconception genetic carrier testing or screening and partcipants are not known carrier status
Payne 1997	Participants: adults 16 ‐ 45 years in a primary care practice in South Wales Intervention: genetic carrier testing for CF Comparator: none Outcome: knowledge, anxiety Design: observational, before and after intervention Excluded due to non‐RCT study design
Punj 2018	Participants: women planning a pregnancy Intervention: genome sequencing of the expanded genetic screening program Comparator: screening for CF Outcome: number of variants reported Design: RCT Excluded due intervention is not preconception genetic carrier testing or screening and participants are not known carrier status
Quigley 2018	Participants: parents of children who were identified as increased risk of CF following newborn screening programme Intervention: information pack on CF Comparator: no information pack on CF Outcome: knowledge and stress score Design: RCT Excluded due intervention is not preconception genetic carrier testing or screening
Rémus 2020	Participants: parents of children who were identified SCD carrier following newborn screening programme Intervention: methods for invitation to come for screening: letter and a follow‐up phone call; letter and 3 follow‐up text messages within 5 days. Comparator: invitation by letter only Outcome: screening rate Design: RCT Excluded due intervention is not preconception genetic carrier testing or screening
Sallevalt 2021	Participants: consanguineous couples Intervention: exome sequencing of preconception carrier testing Comparator: none Outcome: variants from exome‐sequencing and preconception carrier testing gene panel analysis Design: cross‐sectional study Excluded due to non‐RCT study design and intervention is not preconception genetic carrier testing or screening
Tambor 1994	Participants: adults 18 ‐ 44 years in a HMO Intervention: invitation offering CF 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 CF and one identified CFTR mutation Intervention: genetic counselling plus a 4‐minute video on CF 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 being the 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 CF 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: RCT Excluded because the intervention was the delivery of education and not preconception genetic carrier testing or screening

CF: cystic fibrosis
FXS: fragile X syndrome
SCD: sickle cell disease
HMO: health maintenance organisation
RCT: randomised controlled trial
SMZ: spinal muscular atrophy

Figure 1

Study flow diagram

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Referencias

Referencias de los estudios excluidos de esta revisión

Alhamdan 2007 {published data only}

Archibald 2017 {published data only}

Bekker 1993 {published data only}

Castellani 2011 {published data only}

Cheuvront 1998 {published data only}

Childs 1976 {published data only}

Clayton 1996 {published data only}

Fan 2018 {published data only}

Fisher 1981 {published data only}

Hegwer 2006 {published data only}

Henneman 2001 {published data only}

Honnor 2000 {published data only}

Moudi 2016 {published data only}

Payne 1997 {published data only}

Punj 2018 {published data only}

Quigley 2018 {published data only}

Rémus 2020 {published data only}

Sallevalt 2021 {published data only}

Tambor 1994 {published data only}

Temme 2015 {published data only}

Watson 1991 {published data only}

Wilkie 2013 {published data only}

Referencias adicionales

ACOG Committee Opinion 2009

ACOG Committee Opinion 2017

ACOG Committee Opinion 2017 (reaffirmed 2020)

Alswaidi 2009

Alwan 1997

Angastiniotis 1981

Angastiniotis 1995

Angastiniotis 1998

Anido 2005

Antonarakis 2019

Archibald 2011

Bach 2001

Barbarin 1999

Bareil 2020

Bekker 1994

Bonham 2010

Bonham 2019

Borry 2011

Boulton 1996

Bregnballe 2007

Cannon 2019

Cao 1996

Castellani 2010

CDC 2004

Christie 2009

Cornel 2021

Cousens 2010

Czeizel 2012

Davies 2000

Delatycki 2019

de Wert 2012

Donner 1980

Dormandy 2008

Dyson 2006

EndNote X9 [Computer program]

Fanos 1995

Fowzan 2001

Gharaibeh 2009

Glasscoe 2008

Grody 2013

Haque 2016

Health Council of Netherlands 2007

Heyes 2004

Higgins 2002

Higgins 2011

Holtkamp 2017

Human Genetics Commission 2011

Janssens 2014

Johnson 2006

Jones 2002

Kaback 2000

Kenen 1978

Kirk 2021