Sonographic, cytogenetic and DNA analysis in four 69,XXX fetuses diagnosedin the second trimester

Objective: To describe the ultrasound findings and its relationship with th e cytogenetic study and the origin of the extra haploid chromosome set in f our 69,XXX cases. Methods: Four pregnant women were referred because of abn ormal 2nd trimester ultrasound. Karytoypes, FISH and DNA analysis were perf ormed. Results: All cases presented asymmetrical intrauterine growth retard ation, marked oligohydramnios and placental alterations and showed a 69,XXX karyotype. In three cases, DNA analysis allowed to establish the origin of the extra haploid chromosome set. Conclusions: At least three fetuses had a maternal extra haploid chromosome set. Thus, it has been possible to esta blish the main ultrasonographic markers and to observe the survival of the fetus until the second trimester when they have a maternal origin, Copyrigh t (C) 2000 S. Karger AG, Basel.