title: Maternal attitudes to newborn screening for fragile X syndrome.
abstract: Although fragile X syndrome (FXS) is the commonest cause of inherited intellectual disability the mean age of diagnosis in Australia is 5.5 years. Newborn screening for FXS can provide an early diagnosis, preventing the "diagnostic odyssey", allowing access to early interventions, and providing reproductive information for parents. Parents of affected children support newborn screening, but few clinical studies have evaluated community attitudes. A pilot study in 2009-2010 was performed in a tertiary hospital to explore feasibility and maternal attitudes. FXS testing of male and female newborns was offered to mothers in addition to routine newborn screening. Mothers were provided with information about FXS, inheritance pattern, carrier status, and associated adult-onset disorders. One thousand nine hundred seventy-one of 2,094 mothers (94%) consented to testing of 2,000 newborns. 86% completed the attitudinal survey and 10% provided written comments. Almost all parents (99%) elected to be informed of both premutation and full mutation status and there was little concern about identification of carrier status or associated adult-onset disorders. Most mothers (96%) were comfortable being approached in the postnatal period and supported testing because no extra blood test was required. Mothers considered an early diagnosis beneficial to help prepare for a child with additional needs (93%) and for reproductive planning (64%). Some were anxious about the potential test results (10%) and others felt their feelings towards their newborn may change if diagnosed with FXS (16%). High participation rates and maternal attitudes indicate a high level of maternal acceptance and voluntary support for newborn screening for FXS.
authors.affiliation: Genetics of Learning Disability, Hunter Genetics, Waratah, NSW, Australia. louise.christie@hnehealth.nsw.gov.au
authors.forename: Louise
authors.initials: L
authors.lastname: Christie
authors.forename: Tiffany
authors.initials: T
authors.lastname: Wotton
authors.forename: Bruce
authors.initials: B
authors.lastname: Bennetts
authors.forename: Veronica
authors.initials: V
authors.lastname: Wiley
authors.forename: Bridget
authors.initials: B
authors.lastname: Wilcken
authors.forename: Carolyn
authors.initials: C
authors.lastname: Rogers
authors.forename: Jackie
authors.initials: J
authors.lastname: Boyle
authors.forename: Catherine
authors.initials: C
authors.lastname: Turner
authors.forename: Jessica
authors.initials: J
authors.lastname: Hansen
authors.forename: Matthew
authors.initials: M
authors.lastname: Hunter
authors.forename: Himanshu
authors.initials: H
authors.lastname: Goel
authors.forename: Michael
authors.initials: M
authors.lastname: Field
mesh_terms: D000328:Adult; D001294:Attitude to Health; D001315:Australia / Q000453:epidemiology; D042241:Early Diagnosis; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D009035:Mothers / Q000523:psychology*; D015997:Neonatal Screening / Q000523:psychology*; D010287:Parent-Child Relations; D011795:Surveys and Questionnaires; D055815:Young Adult