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Keywords:

  • genetic counselling;
  • prenatal diagnosis;
  • sex chromosome abnormality

Objective:  To analyse parental decisions regarding pregnancies with sex chromosome abnormalities (SCA).

Methods:  Collected and reviewed records from our hospital for 1991–2005. Genetic counselling was provided by obstetricians or perinatologists.

Result:  Among 57 fetuses with SCA were 36 non-mosaic cases (four of 36, 45,X; 12 of 36, 47,XXY; seven of 36, 47,XYY, 13 of 36, 47,XXX) and 21 mosaic cases (15 of 21, 45,X mosaicism). Only 20% of 45,X mosaic pregnancies were continued, whereas all other mosaic pregnancies (100%) were continued (P = 0.004). Of 32 SCA cases counselled by a perinatologist, 66% (21 of 32) were continued. In contrast, 36% (nine of 25) of cases counselled by a general obstetrician were continued, a barely significant difference (P = 0.048). More couples chose to continue pregnancies in recent years.

Conclusion:  Genetic counselling by well-trained specialists is valuable, and the trend towards fewer terminations at our centre suggests improved parental knowledge of pathology associated with SCA.