What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study

摘要

Objective To investigate how the prenatal diagnosis ofrna sex chromosome anomaly is first communicated tornparents.rnDesign Health professionals were interviewed byrntelephone and the conversation was taped; parentsrnwere sent questionnaires at 1 month after diagnosisrnand those who responded were sent another atrn6 months.rnParticipants 29 health professionals who had recendyrninformed parents that a sex chromosome anomalyrnhad been identified in an apparently anatomicallyrnnormal, viable fetus. 23 mothers and partners whornhad been informed of such a diagnosis.rnMain outcome measures Health professionals'rnknowledge about sex chromosome anomalies andrnparents' responses to information provided by healthrnprofessionals.rnResults Analysis of the telephone interviewsrnidentified great variation in what different healthcarernprofessionals know, think, and say about the same sexrnchromosome anomaly. The small numbers and thernlow response rate for the questionnaire (39% forrnwomen and 30% for men) meant that statisticalrnanalysis was not appropriate.rnConclusions It is essential for obstetric units to havernan established protocol for giving results and for allrnstaff who communicate results to parents to havernaccurate, up to date information about the conditionrnidentified.