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 abnormality, 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.
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 gestation, with the cytogenetic formula 47,XX,+5 in all analyzed cells.
Conclusions: The routine cytogenetic analysis of 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 obvious cost benefit for health care, such analysis would help the physician to decide about future patient management, as well as planning the genetic counseling.