Prenatal diagnosis of a fetus with partial trisomy 7p

We report a prenatal diagnosis of a fetus with partial trisomy 7p. Ultrasonography at 28 weeks of gestation of a 27-year-old multigravid woman revealed a growth-retarded fetus with agenesis of the corpus callosum, enlarged left kidney, single umbilical artery, hypertelorism, depressed nasal bridge, frontal bossing, irregular maxiller alveolar composition, club feet, flexion deformity of the upper extremities and Epstein anomaly. Fetal karyotype was 46, XX, der(9) add(9p24), 16qh+. Our results indicated that the fetus had an unbalanced translocation, which resulted in duplication of the proximal segment of 7p. Maternal karyotype was (46, XX, t(7, 9)(p15.3, p24), 16qh+). Because fetal death occurred at 31 weeks of gestation, induction of labor was performed. An enlarged anterior fontanel and micrognathia were seen during fetal autopsy. Trisomy 7p is related to a well-known clinical picture with a dismal prognosis. Our report showed that the outcome of the affected pregnancy may also be poor. Detection of fetal chromosomal abnormality and parental translocations are essential for counseling of the parents. Copyright (c) 2007 S. Karger AG, Basel