What parents are told about sex chromosome anomalies varies widely

Coincidentally, sometimes a missing or extra sex chromosome is detected in amniocentesis or chorionic villus sampling to detect Down's syndrome. However, parents are unlikely to know anything about sex chromosome anomalies, and usually depend on health professionals to provide them with information. Before being seen by a clinical geneticist they will probably discuss the diagnosis with a doctor or midwife who may know little about these conditions. Abramsky et al (p 463) interviewed 29 staff who had recently informed parents about sex chromosome anomalies. There was wide variation between health professionals in what they knew, thought, and told parents about these conditions. Questionnaires completed by parents confirmed this.

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

Lenore Abramsky, Sue Hall, Judith Levitan, and Theresa M Marteau
BMJ 2001 322: 463-466. [Abstract] [Full Text] [PDF]