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Carrier screening in preconception consultation in primary care

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Abstract

Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay–Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.

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References

  • Ahmed S, Green J, Hewison J (2005) Antenatal thalassaemia carrier testing: women's perceptions of “information” and “consent”. J Med Screen 12(2):69–77

    Article  PubMed  Google Scholar 

  • Al Arrayed S, Al Hajeri A (2010) Public awareness of sickle cell disease in Bahrain. Ann Saudi Med 30(4):284–288

    Article  PubMed  Google Scholar 

  • American College of Obstetricians and Gynecologists (2005) ACOG Committee opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis. Obstet Gynecol 106(6):1465–1468

    Article  Google Scholar 

  • American College of Obstetricians and Gynecologists (2009) ACOG Committee opinion no. 432: spinal muscular atrophy. Obstet Gynecol 113(5):1194–1196

    Google Scholar 

  • American College of Obstetricians and Gynecologists (2011) ACOG Committee opinion no. 486: update on carrier screening for cystic fibrosis. Obstet Gynecol 117(4):1028–1031

    Article  Google Scholar 

  • Angastiniotis M, Modell B (1998) Global epidemiology of hemoglobin disorders. Ann N Y Acad Sci 850:251–269

    Article  PubMed  CAS  Google Scholar 

  • Angastiniotis M, Modell B, Englezos P, Boulyjenkov V (1995) Prevention and control of haemoglobinopathies. Bull World Health Organ 73(3):375–386

    PubMed  CAS  Google Scholar 

  • Anido A, Carlson LM, Taft L, Sherman SL (2005) Women's attitudes toward testing for fragile X carrier status: a qualitative analysis. J Genet Couns 14(4):295–306

    Article  PubMed  Google Scholar 

  • Anido A, Carlson LM, Sherman SL (2007) Attitudes toward fragile x mutation carrier testing from women identified in a general population survey. J Genet Couns 16(1):97–104

    Article  PubMed  Google Scholar 

  • Archibald AD, Jaques AM, Wake S, Collins VR, Cohen J, Metcalfe SA (2009) “It's something I need to consider”: decisions about carrier screening for fragile X syndrome in a population of non-pregnant women. Am J Med Genet A 149A(12):2731–2738

    Article  PubMed  Google Scholar 

  • Baars MJ, Henneman L, ten Kate LP (2004) Preconceptional cystic fibrosis carrier screening: opinions of general practitioners, gynecologists, and pediatricians in the Netherlands. Genet Test 8(4):431–436

    Article  PubMed  Google Scholar 

  • Basel-Vanagaite L, Taub E, Drasinover V, Magal N, Brudner A, Zlotogora J, Shohat M (2008) Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel. Genet Test 12(1):53–56

    Article  PubMed  CAS  Google Scholar 

  • Bekker H, Modell M, Denniss G, Silver A, Mathew C, Bobrow M, Marteau T (1993) Uptake of cystic fibrosis testing in primary care: supply push or demand pull? BMJ 306(6892):1584–1586

    Article  PubMed  CAS  Google Scholar 

  • Bekker H, Denniss G, Modell M, Bobrow M, Marteau T (1994) The impact of population based screening for carriers of cystic fibrosis. J Med Genet 31(5):364–368

    Article  PubMed  CAS  Google Scholar 

  • Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 3(65):65ra64

    Article  CAS  Google Scholar 

  • Berkenstadt M, Ries-Levavi L, Cuckle H, Peleg L, Barkai G (2007) Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests. Prenat Diagn 27(11):991–994

    Article  PubMed  Google Scholar 

  • Bernhardt BA, Chase GA, Faden RR, Geller G, Hofman KJ, Tambor ES, Holtzman NA (1996) Educating patients about cystic fibrosis carrier screening in a primary care setting. Arch Fam Med 5(6):336–340

    Article  PubMed  CAS  Google Scholar 

  • Borry P, Henneman L, Lakeman P, ten Kate LP, Cornel MC, Howard HC (2011) Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod 26(5):972–977

    Article  PubMed  Google Scholar 

  • Botkin JR, Alemagno S (1992) Carrier screening for cystic fibrosis: a pilot study of the attitudes of pregnant women. Am J Public Health 82(5):723–725

    Article  PubMed  CAS  Google Scholar 

  • Boulton M, Cummings C, Williamson R (1996) The views of general practitioners on community carrier screening for cystic fibrosis. Br J Gen Pract 46(406):299–301

    PubMed  CAS  Google Scholar 

  • Cao A, Rosatelli MC, Monni G, Galanello R (2002) Screening for thalassemia: a model of success. Obstet Gynecol Clin North Am 29(2):305–328, vi-vii

    Article  PubMed  Google Scholar 

  • Chen LS, Goodson P (2007) Factors affecting decisions to accept or decline cystic fibrosis carrier testing/screening: a theory-guided systematic review. Genet Med 9(7):442–450

    Article  PubMed  Google Scholar 

  • Clayton EW, Hannig VL, Pfotenhauer JP, Parker RA, Campbell PW 3rd, Phillips JA 3rd (1996) Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening. Am J Hum Genet 58(3):617–627

    PubMed  CAS  Google Scholar 

  • Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB (2010) Carrier screening for beta-thalassaemia: a review of international practice. Eur J Hum Genet 18(10):1077–1083

    Article  PubMed  Google Scholar 

  • Cronister A, DiMaio M, Mahoney MJ, Donnenfeld AE, Hallam S (2005) Fragile X syndrome carrier screening in the prenatal genetic counseling setting. Genet Med 7(4):246–250

    Article  PubMed  Google Scholar 

  • Cuckle H, Quirke P, Sehmi I, Lewis F, Murray J, Cross D, Cuckle P, Ozols B (1996) Antenatal screening for cystic fibrosis. Br J Obstet Gynaecol 103(8):795–799

    Article  PubMed  CAS  Google Scholar 

  • Decruyenaere M, Evers-Kiebooms G, Denayer L, Van den Berghe H (1992) Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis. Clin Genet 41(4):189–196

    Article  PubMed  CAS  Google Scholar 

  • Delatycki MB (2008) Population screening for reproductive risk for single gene disorders in Australia: now and the future. Twin Res Hum Genet 11(4):422–430

    Article  PubMed  Google Scholar 

  • Dodge JA, Lewis PA, Stanton M, Wilsher J (2007) Cystic fibrosis mortality and survival in the UK: 1947–2003. Eur Respir J 29(3):522–526

    Article  PubMed  CAS  Google Scholar 

  • Faden RR, Tambor ES, Chase GA, Geller G, Hofman KJ, Holtzman NA (1994) Attitudes of physicians and genetics professionals toward cystic fibrosis carrier screening. Am J Med Genet 50(1):1–11

    Article  PubMed  CAS  Google Scholar 

  • Fanos JH, Spangner KA, Musci TJ (2006) Attitudes toward prenatal screening and testing for Fragile X. Genet Med 8(2):129–133

    Article  PubMed  Google Scholar 

  • Finucane B (1996) Should all pregnant women be offered carrier testing for fragile X syndrome? Clin Obstet Gynecol 39(4):772–782

    Article  PubMed  CAS  Google Scholar 

  • Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST et al (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67(6):1047–1058

    Article  PubMed  CAS  Google Scholar 

  • Gason AA, Sheffield E, Bankier A, Aitken MA, Metcalfe S, Barlow Stewart K, Delatycki MB (2003) Evaluation of a Tay–Sachs disease screening program. Clin Genet 63(5):386–392

    Article  PubMed  CAS  Google Scholar 

  • Geva E, Yaron Y, Shomrat R, Ben-Yehuda A, Zabari S, Peretz H, Naiman T, Yeger H, Orr-Urtreger A (2000) The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families. Genet Test 4(3):289–292

    Article  PubMed  CAS  Google Scholar 

  • Godard B, ten Kate L, Evers-Kiebooms G, Ayme S (2003) Population genetic screening programmes: principles, techniques, practices, and policies. Eur J Hum Genet 11(Suppl 2):S49–S87

    Article  PubMed  Google Scholar 

  • Gordon C, Walpole I, Zubrick SR, Bower C (2003) Population screening for cystic fibrosis: knowledge and emotional consequences 18 months later. Am J Med Genet 120A(2):199–208

    Article  PubMed  Google Scholar 

  • Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ, Subcommittee on Cystic Fibrosis Screening AoGSCAACoMG (2001) Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3(2):149–154

    Article  PubMed  CAS  Google Scholar 

  • Gross SJ, Pletcher BA, Monaghan KG, Professional Practice Guidelines Committee (2008) Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med 10(1):54–56

    Article  PubMed  Google Scholar 

  • Hagerman RJ, Hagerman PJ (2002) Fragile X syndrome: diagnosis, treatment, and research. Johns Hopkins University Press

  • Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ (2001) Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57(1):127–130

    Article  PubMed  CAS  Google Scholar 

  • Hantash FM, Goos DM, Crossley B, Anderson B, Zhang K, Sun W, Strom CM (2011) FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. Genet Med 13(1):39–45

    Article  PubMed  CAS  Google Scholar 

  • Harris HJ, Scotcher D, Craufurd D, Wallace A, Harris R (1992) Cystic fibrosis carrier screening at first diagnosis of pregnancy in general practice. Lancet 339(8808):1539

    Article  PubMed  CAS  Google Scholar 

  • Harris H, Scotcher D, Hartley N, Wallace A, Craufurd D, Harris R (1993) Cystic fibrosis carrier testing in early pregnancy by general practitioners. BMJ 306(6892):1580–1583

    Article  PubMed  CAS  Google Scholar 

  • Harris H, Scotcher D, Hartley N, Wallace A, Craufurd D, Harris R (1996) Pilot study of the acceptability of cystic fibrosis carrier testing during routine antenatal consultations in general practice. Br J Gen Pract 46(405):225–227

    PubMed  CAS  Google Scholar 

  • Hartley NE, Scotcher D, Harris H, Williamson P, Wallace A, Craufurd D, Harris R (1997) The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP. J Med Genet 34(6):459–464

    Article  PubMed  CAS  Google Scholar 

  • Henneman L, Bramsen I, Van Os TA, Reuling IE, Heyerman HG, van der Laag J, van der Ploeg HM, ten Kate LP (2001a) Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF). Prenat Diagn 21(1):1–9

    Article  PubMed  CAS  Google Scholar 

  • Henneman L, Bramsen I, van der Ploeg HM, Ader HJ, van der Horst HE, Gille JJ, ten Kate LP (2001b) Participation in preconceptional carrier couple screening: characteristics, attitudes, and knowledge of both partners. J Med Genet 38(10):695–703

    Article  PubMed  CAS  Google Scholar 

  • Henneman L, Bramsen I, van der Ploeg HM, ten Kate LP (2002) Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. Genet Test 6(3):195–202

    Article  PubMed  CAS  Google Scholar 

  • Henneman L, Bramsen I, van Kempen L, van Acker MB, Pals G, van der Horst HE, Ader HJ, van der Ploeg HM, ten Kate LP (2003) Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services. Comm Genet 6(1):5–13

    Article  Google Scholar 

  • Heredero-Baute L (2004) Community-based program for the diagnosis and prevention of genetic disorders in Cuba. Publ Health Genomics 7(2–3):130–136

    Google Scholar 

  • Hill MK, Archibald AD, Cohen J, Metcalfe SA (2010) A systematic review of population screening for fragile X syndrome. Genet Med 12(7):396–410

    Article  PubMed  Google Scholar 

  • Honnor M, Zubrick SR, Walpole I, Bower C, Goldblatt J (2000) Population screening for cystic fibrosis in Western Australia: community response. Am J Med Genet 93(3):198–204

    Article  PubMed  CAS  Google Scholar 

  • Huang KF, Chen WY, Tsai YC, Lin CC, Chen SH, Tseng CY, Tzeng CC (2003) Original article pilot screening for fragile X carrier in pregnant women of southern Taiwan. J Chin Med Assoc 66(4):204–209

    PubMed  Google Scholar 

  • Human Genetics Society of Australasia (2010) Cystic fibrosis population screening position paper

  • Ioannou L, Massie J, Collins V, McClaren B, Delatycki MB (2010) Population-based genetic screening for cystic fibrosis: attitudes and outcomes. Publ Health Genomics 13(7–8):449–456

    Article  CAS  Google Scholar 

  • Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ (2003) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72(4):869–878

    Article  PubMed  CAS  Google Scholar 

  • Kaback MM (2001) Screening and prevention in Tay–Sachs disease: origins, update, and impact. Adv Genet 44:253–265

    Article  PubMed  CAS  Google Scholar 

  • Kallinen J, Marin K, Heinonen S, Mannermaa A, Palotie A, Ryynanen M (2001) Wide scope prenatal diagnosis at Kuopio University Hospital 1997–1998: integration of gene tests and fetal karyotyping. BJOG 108(5):505–509

    Article  PubMed  CAS  Google Scholar 

  • Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245(4922):1073–1080

    Article  PubMed  CAS  Google Scholar 

  • Lakeman P, Plass AM, Henneman L, Bezemer PD, Cornel MC, ten Kate LP (2009) Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation? Eur J Hum Genet 17(8):999–1009

    Article  PubMed  Google Scholar 

  • Levenkron JC, Loader S, Rowley PT (1997) Carrier screening for cystic fibrosis: test acceptance and one year follow-up. Am J Med Genet 73(4):378–386

    Article  PubMed  CAS  Google Scholar 

  • Lévesque S, Dombrowski C, Morel ML, Rehel R, Côté JS, Bussières J, Morgan K, Rousseau F (2009) Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother–newborn pairs from the general population. Clin Genet 76(6):511–523

    Article  PubMed  CAS  Google Scholar 

  • Loader S, Caldwell P, Kozyra A, Levenkron JC, Boehm CD, Kazazian HH Jr, Rowley PT (1996) Cystic fibrosis carrier population screening in the primary care setting. Am J Hum Genet 59(1):234–247

    PubMed  CAS  Google Scholar 

  • Locock L, Kai J (2008) Parents' experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era. Br J Gen Pract 58(548):161–168

    Article  PubMed  Google Scholar 

  • Massie J, Petrou V, Forbes R, Curnow L, Ioannou L, Du Sart D, Bankier A, Delatycki M (2009) Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience. Aust N Z J Obstet Gynaecol 49(5):484–489

    Article  PubMed  Google Scholar 

  • Maxwell SJ, Kyne G, Molster C, Barker NM, Ormsby J, O'Leary P (2011) Perceptions of population cystic fibrosis prenatal and preconception carrier screening among individuals with cystic fibrosis and their family members. Genet Test Mol Biomarkers 15(3):159–164

    Article  PubMed  Google Scholar 

  • McClaren BJ, Delatycki MB, Collins V, Metcalfe SA, Aitken M (2008) ‘It is not in my world’: an exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet 16(4):435–444

    Article  PubMed  Google Scholar 

  • McClaren BJ, Metcalfe S, Aitken M, Massie J, Ukoumunne OC, Amor DJ (2010) Uptake of cystic fibrosis carrier testing in families after diagnosis through newborn screening. Eur J Hum Genet 18(10):1084–1089

    Article  PubMed  Google Scholar 

  • McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ (2005) Genetic counseling for fragile X syndrome: updated recommendations of the national society of genetic counselors. J Genet Couns 14(4):249–270

    Article  PubMed  Google Scholar 

  • McConkie-Rosell A, Abrams L, Finucane B, Cronister A, Gane LW, Coffey SM, Sherman S, Nelson LM, Berry-Kravis E, Hessl D, Chiu S, Street N, Vatave A, Hagerman RJ (2007) Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns 16(5):593–606

    Article  PubMed  Google Scholar 

  • Meadows KL, Sherman SL (1996) Fragile X syndrome: examination of issues pertaining to population-based screening. Screening 4:175–192

    Article  Google Scholar 

  • Melancon MJ, De Braekeleer M (1996) Adolescents' attitude towards carrier testing for cystic fibrosis. Eur J Hum Genet 4(6):305–306

    PubMed  CAS  Google Scholar 

  • Mennie M, Campbell H, Liston WA, Brock DJ (1998) Attitudes of general practitioners to screening for cystic fibrosis. J Med Screen 5(1):11–15

    PubMed  CAS  Google Scholar 

  • Metcalfe S, Hurworth R, Newstead J, Robins R (2002) Needs assessment study of genetics education for general practitioners in Australia. Genet Med 4(2):71–77

    Article  PubMed  Google Scholar 

  • Metcalfe S, Jacques A, Archibald A, Burgess T, Collins V, Henry A, McNamee K, Sheffield L, Slater H, Wake S, Cohen J (2008) A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study. Genet Med 10(7):525–535

    Article  PubMed  Google Scholar 

  • Mitchell JJ, Capua A, Clow C, Scriver CR (1996) Twenty-year outcome analysis of genetic screening programs for Tay–Sachs and beta-thalassemia disease carriers in high schools. Am J Hum Genet 59(4):793–798

    PubMed  CAS  Google Scholar 

  • Modell M (1993) Screening for carriers of cystic fibrosis—a general practitioner's perspective. BMJ 307(6908):849–852

    Article  PubMed  CAS  Google Scholar 

  • Modell M, Wonke B, Anionwu E, Khan M, Tai SS, Lloyd M, Modell B (1998) A multidisciplinary approach for improving services in primary care: randomised controlled trial of screening for haemoglobin disorders. BMJ 317(7161):788–791

    Article  PubMed  CAS  Google Scholar 

  • Muralidharan K, Wilson RB, Ogino S, Nagan N, Curtis C, Schrijver I (2011) Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology. J Mol Diagn 13(1):3–6

    Article  PubMed  Google Scholar 

  • Musci TJ (2005) Screening for single gene genetic disease. Gynecol Obstet Invest 60(1):19–26

    Article  PubMed  Google Scholar 

  • Musci TJ, Caughey AB (2005) Cost-effectiveness analysis of prenatal population-based fragile X carrier screening. Am J Obstet Gynecol 192(6):1905–1912

    Article  PubMed  Google Scholar 

  • Myers MF, Bernhardt BA, Tambor ES, Holtzman NA (1994) Involving consumers in the development of an educational program for cystic fibrosis carrier screening. Am J Hum Genet 54(4):719–726

    PubMed  CAS  Google Scholar 

  • NHS. Thalassaemia and Sickle Cell Screening Programme. Accessed July 2011, from http://sct.screening.nhs.uk/index.php

  • Nolin SL, Lewis FA 3rd, Ye LL, Houck GE Jr, Glicksman AE, Limprasert P, Li SY, Zhong N, Ashley AE, Feingold E, Sherman SL, Brown WT (1996) Familial transmission of the FMR1 CGG repeat. Am J Hum Genet 59(6):1252–1261

    PubMed  CAS  Google Scholar 

  • Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Brondum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Vaisanen ML, von Koskull H, Sherman SL (2003) Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 72(2):454–464

    Article  PubMed  CAS  Google Scholar 

  • Ormond KE, Iris M, Banuvar S, Minogue J, Annas GJ, Elias S (2007) What do patients prefer: informed consent models for genetic carrier testing. J Genet Couns 16(4):539–550

    Article  PubMed  CAS  Google Scholar 

  • O'Sullivan BP, Freedman SD (2009) Cystic fibrosis. Lancet 373(9678):1891–1904

    Article  PubMed  Google Scholar 

  • Otsuka S, Sakamoto Y, Siomi H, Itakura M, Yamamoto K, Matumoto H, Sasaki T, Kato N, Nanba E (2010) Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev 32(2):110–114

    Article  PubMed  Google Scholar 

  • Palomaki GE (1994) Population based prenatal screening for the fragile X syndrome. J Med Screen 1(1):65–72

    PubMed  CAS  Google Scholar 

  • Payne Y, Williams M, Cheadle J, Stott NC, Rowlands M, Shickle D, West G, Meredith L, Goodchild M, Harper PS, Clarke A (1997) Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales. The South Wales Cystic Fibrosis Carrier Screening Research Team. Clin Genet 51(3):153–163

    Article  PubMed  CAS  Google Scholar 

  • Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, Barkai G (2000) Screening for fragile X syndrome in women of reproductive age. Prenat Diagn 20(8):611–614

    Article  PubMed  CAS  Google Scholar 

  • Poppelaars FA, van der Wal G, Braspenning JC, Cornel MC, Henneman L, Langendam MW, ten Kate LP (2003a) Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers: a focus group study. Public Health 117(6):396–403

    Article  PubMed  CAS  Google Scholar 

  • Poppelaars FA, Henneman L, Ader HJ, Cornel MC, Hermens RP, Van Der Wal G, Ten Kate LP (2003b) How should preconceptional cystic fibrosis carrier screening be provided? Opinions of potential providers and the target population. Comm Genet 6(3):157–165

    Article  Google Scholar 

  • Poppelaars FA, Henneman L, Ader HJ, Cornel MC, Hermens RP, van der Wal G, ten Kate LP (2004a) Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population. Genet Test 8(2):80–89

    Article  PubMed  Google Scholar 

  • Poppelaars FA, Ader HJ, Cornel MC, Henneman L, Hermens RP, van der Wal G, ten Kate LP (2004b) Attitudes of potential providers towards preconceptional cystic fibrosis carrier screening. J Genet Couns 13(1):31–44

    Article  PubMed  Google Scholar 

  • Prior TW (2010) Spinal muscular atrophy: a time for screening. Curr Opin Pediatr 22(6):696–702

    Article  PubMed  Google Scholar 

  • Prior TW, Professional Practice Guidelines Committee (2008) Carrier screening for spinal muscular atrophy. Genet Med 10(11):840–842

    Article  PubMed  Google Scholar 

  • Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, Conlan T, Schmalz B, Montgomery L, Ziegler K, Noonan C, Hashimoto S, Garner S (2010) Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A 152A(7):1608–1616

    Article  PubMed  CAS  Google Scholar 

  • Qureshi N, Armstrong S, Modell B (2006) GPs' opinions of their role in prenatal genetic services: a cross-sectional survey. Fam Pract 23(1):106–110

    Article  PubMed  Google Scholar 

  • Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL et al (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245(4922):1066–1073

    Article  PubMed  CAS  Google Scholar 

  • Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N et al (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245(4922):1059–1065

    Article  PubMed  CAS  Google Scholar 

  • Ryynanen M, Heinonen S, Makkonen M, Kajanoja E, Mannermaa A, Pertti K (1999) Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies. Eur J Hum Genet 7(2):212–216

    Article  PubMed  CAS  Google Scholar 

  • Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R (2010) Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat 31(11):1240–1250

    Article  PubMed  CAS  Google Scholar 

  • Sherman S, Pletcher BA, Driscoll DA (2005) Fragile X syndrome: diagnostic and carrier testing. Genet Med 7(8):584–587

    Article  PubMed  Google Scholar 

  • Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN (1993) Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 53(6):1217–1228

    PubMed  CAS  Google Scholar 

  • Song FJ, Barton P, Sleightholme V, Yao GL, Fry-Smith A (2003) Screening for fragile X syndrome: a literature review and modelling study. Health Technol Assess 7(16):1–106

    CAS  Google Scholar 

  • Southern KW, Munck A, Pollitt R, Travert G, Zanolla L, Dankert-Roelse J, Castellani C (2007) A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 6(1):57–65

    Article  PubMed  CAS  Google Scholar 

  • Southern KW, Merelle MM, Dankert-Roelse JE, Nagelkerke AD (2009) Newborn screening for cystic fibrosis. Cochrane Database Syst Rev (1): CD001402. doi:10.1002/14651858.CD001402.pub2

  • Spence WC, Black SH, Fallon L, Maddalena A, Cummings E, Menapace-Drew G, Bick DP, Levinson G, Schulman JD, Howard-Peebles PN (1996) Molecular fragile X screening in normal populations. Am J Med Genet 64(1):181–183

    Article  PubMed  CAS  Google Scholar 

  • Srinivasan BS, Evans EA, Flannick J, Patterson AS, Chang CC, Pham T, Young S, Kaushal A, Lee J, Jacobson JL, Patrizio P (2010) A universal carrier test for the long tail of Mendelian disease. Reprod Biomed online 21(4):537–551

    Article  PubMed  Google Scholar 

  • Strom CM, Crossley B, Buller-Buerkle A, Jarvis M, Quan F, Peng M, Muralidharan K, Pratt V, Redman JB, Sun W (2011) Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genet Med 13(2):166–172

    Article  PubMed  Google Scholar 

  • Su YN, Hung CC, Lin SY, Chen FY, Chern JP, Tsai C, Chang TS, Yang CC, Li H, Ho HN, Lee CN (2011) Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005–2009: a prospective population-based cohort study. PLoS One 6(2):e17067

    Article  PubMed  CAS  Google Scholar 

  • Tambor ES, Bernhardt BA, Chase GA, Faden RR, Geller G, Hofman KJ, Holtzman NA (1994) Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. Am J Hum Genet 55(4):626–637

    PubMed  CAS  Google Scholar 

  • Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V, Taub E, Halpern GJ, Ginott N, Shohat M (2001) Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 69(2):351–360

    Article  PubMed  CAS  Google Scholar 

  • Watson EK, Williamson R, Chapple J (1991a) Attitudes to carrier screening for cystic fibrosis: a survey of health care professionals, relatives of sufferers and other members of the public. Br J Gen Pract 41(347):237–240

    PubMed  CAS  Google Scholar 

  • Watson EK, Mayall E, Chapple J, Dalziel M, Harrington K, Williams C, Williamson R (1991b) Screening for carriers of cystic fibrosis through primary health care services. BMJ 303(6801):504–507

    Article  PubMed  CAS  Google Scholar 

  • Weinreich SS, de Lange-de Klerk ES, Rijmen F, Cornel MC, de Kinderen M, Plass AM (2009) Raising awareness of carrier testing for hereditary haemoglobinopathies in high-risk ethnic groups in the Netherlands: a pilot study among the general public and primary care providers. BMC Public Health 9:338

    Article  PubMed  Google Scholar 

  • Welkenhuysen M, Evers-Kiebooms G, Decruyenaere M, Van den Berghe H, Bande-Knops J, Van Gerven V (1996) Adolescents' attitude towards carrier testing for cystic fibrosis and its relative stability over time. Eur J Hum Genet 4(1):52–62

    PubMed  CAS  Google Scholar 

  • WHO (2006) Thalassaemia and other haemoglobinopathies: report by the Secretariat

  • Wildhagen MF, van Os TA, Polder JJ, ten Kate LP, Habbema JD (1998) Explorative study of costs, effects and savings of screening for female fragile X premutation and full mutation carriers in the general population. Comm Genet 1(1):36–47

    Article  CAS  Google Scholar 

  • Wilfond BS, Fost N (1990) The cystic fibrosis gene: medical and social implications for heterozygote detection. JAMA 263(10):2777–2783

    Article  CAS  Google Scholar 

  • Williamson R (1993) Universal community carrier screening for cystic fibrosis? Nat Genet 3(3):195–201

    Article  PubMed  CAS  Google Scholar 

  • Wong L, George E, Tan J-A (2011a) A holistic approach to education programs in thalassemia for a multi-ethnic population: consideration of perspectives, attitudes, and perceived needs. J Comm Genet 2(2):71–79

    Article  Google Scholar 

  • Wong LP, George E, Tan JA (2011b) Public perceptions and attitudes toward thalassaemia: influencing factors in a multi-racial population. BMC Public Health 11:193

    Article  PubMed  Google Scholar 

  • Zlotogora J, Carmi R, Lev B, Shalev SA (2009) A targeted population carrier screening program for severe and frequent genetic diseases in Israel. Eur J Hum Genet 17(5):591–597

    Article  PubMed  Google Scholar 

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Acknowledgements

The author is grateful to Dr. Belinda McClaren, Dr. Alison Archibald, and Nicole Cousens for help with specific literature, and Loren Plunkett and Mark Adams for administrative support. This work was supported by the Victorian Government's Operational Infrastructure Support Program.

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The author of this paper declares that she has no conflict of interest.

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  1. Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, 3052, Australia

    Sylvia A. Metcalfe

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Correspondence to Sylvia A. Metcalfe.

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Special Issue: Genetic Aspects of Preconception Consultation in Primary Care

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Metcalfe, S.A. Carrier screening in preconception consultation in primary care. J Community Genet 3, 193–203 (2012). https://doi.org/10.1007/s12687-011-0071-z

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