Full trisomy 5 in a sample of spontaneous abortion and arias stella reaction

Summary Background: Historically, 50% of spontaneously expelled abortuses have been thought to be chromosomally abnormal; about 60% are trisomies. In general, trisomy 16 is the most frequent chromosomal ab-normality, followed by trisomy 21 and trisomy 22. So far only 1 case of a female fetus with multiple congenital malformations associated with full trisomy 5 has been described. Case Report: We present a case of de novo full trisomy 5 in a spontaneous abortion sample. A young couple with normal constitutional karyotype experienced the second spontaneous abortion at 9 weeks of ges-tation, with the cytogenetic formula 47,XX,+5 in all analyzed cells. Conclusions: The routine cytogenetic analysisof miscarriages is still an uncommon practice, but it can have a great impact on the management of couples with repeated pregnancy wastage. Besides of the obvi -ous cost benefit for health care, such analysis would help the physician to decide about future pa-tient management, as well as planning the genetic counseling.