Misinterpretation of trisomy 18 as a pseudomosaicism at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY, +3/48,XXY, +18 karyotype.

摘要

False-negative trisomy 18 has been reported after chorionic villus sampling, but not after amniocentesis. We describe a double aneuploidy in cultured amniocytes that was initially misinterpreted as a pseudomosaicism. A patient was referred at 31 weeks of gestation because of fetal anomalies at ultrasound examination. Karyotyping of amniocytes showed a 47,XY, +3 karyotype in 61 clones and a 48,XXY, +18 karyotype in one clone. The latter was interpreted as a pseudomosaicism, the more since a second amniocentesis revealed only cells with a 47,XY, +3 karyotype. At 36 weeks gestational age, a boy was born with congenital anomalies suggestive of trisomy 18. A blood culture showed a 48,XXY, +18 karyotype, while in fibroblasts a 47,XY, + 3/48,XXY, +18 mosaicism was found. Umbilical cord and bladder epithelial tissue also revealed normal 46,XY cells, besides the aneuploid cells. Therefore, the child proper had a 46,XY/47,XY, +3/48,XXY, +18 mosaicism with the clinical symptoms of trisomy 18. To the best of our knowledge, this is the first report of a false-negative result of trisomy 18 together with three sex chromosomes after amniocentesis.