Prenatal diagnosis of trisomy 9. Six cases and a review of the literature |
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Authors: | R Saura W Traore L Taine Z Q Wen D Roux B Maugey-Laulom M Ruffie A Vergnaud J Horovitz |
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Institution: | Centre de Diagnostic Prénatal, Maternité Pellegrin, CHU Bordeaux, 33076, France |
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Abstract: | Six prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed. |
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Keywords: | trisomy 9 prenatal diagnosis genetic counselling |
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