Early prenatal diagnosis of double trisomy 48, XXY+18 (Klinefelter-Edwards syndrome) in the first trimester
Panayiota Papasozomenou, Menelaos Zafrakas, Apostolos Athanasiades
Double aneuploidies are rare chromosomal anomalies. Double trisomy 48, XXY+18 or Klinefelter-Edwards syndrome is an extremely rare form of double aneuploidy, with only a few cases reported in the literature. In most cases, the clinical features of trisomy 18 seem to predominate while the features of Klinefelter syndrome are usually missing, since most of them do not become clinically evident before puberty. We present a rare case of 48, XXY+18 or Klinefelter-Edwards syndrome diagnosed in the first trimester during routine dating scan. Increased nuchal translucency, generalized edema of the skin (anasarca) and omphalocele were noted, leading to chorionic villous sampling, with the subsequent karyotype revealing a double trisomy 48, XXY + 18. This is the first reported case of Klinefelter-Edwards syndrome detected in the first trimester. The possibility of this rare anomaly should be considered in the differential diagnosis of increased nuchal translucency in the first trimester of pregnancy.
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