Journal
AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY
Volume 48, Issue 2, Pages 155-159Publisher
BLACKWELL PUBLISHING
DOI: 10.1111/j.1479-828X.2008.00828.x
Keywords
genetic counselling; prenatal diagnosis; sex chromosome abnormality
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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.
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