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

OBJECTIVE: To investigate how the prenatal diagnosis of a sex chromosome anomaly is first communicated to parents. DESIGN: Health professionals were interviewed by telephone and the conversation was taped; parents were sent questionnaires at 1 month after diagnosis and those who responded were sent another at 6 months. PARTICIPANTS: 29 health professionals who had recently informed parents that a sex chromosome anomaly had been identified in an apparently anatomically normal, viable fetus. 23 mothers and partners who had been informed of such a diagnosis. MAIN OUTCOME MEASURES: Health professionals' knowledge about sex chromosome anomalies and parents' responses to information provided by health professionals. RESULTS: Analysis of the telephone interviews identified great variation in what different healthcare professionals know, think, and say about the same sex chromosome anomaly. The small numbers and the low response rate for the questionnaire (39% for women and 30% for men) meant that statistical analysis was not appropriate. CONCLUSIONS: It is essential for obstetric units to have an established protocol for giving results and for all staff who communicate results to parents to have accurate, up to date information about the condition identified.