Brief clinical report - Trisomy 1 in a clinically recognized IVF pregnancy

Most chromosomal trisomies lead to spontaneous abortion, To date, trisomies of all human chromosomes have been observed. Chromosome 1 has been the mos t elusive, as trisomy 1 was the last aberration to be identified. To date t here has been only one case report of a full trisomy 1 in the literature [1 997: Am J Med Genet 68:98], We have identified a second full trisomy 1 from the chromosome analysis of products of conception. We present a patient wh o conceived by in vitro fertilization (IVF). The cellular divisions of the fertilized egg were carefully monitored prior to transfer. Hormonal changes (increased hCG) indicated that implantation had occurred. Vaginal ultrasou nd demonstrated a gestational sec. At 42 days postfertilization no fetal he art beat could be detected. Cytogenetic analysis of the chorionic villi iso lated from the products of conception found that all of the cells analyzed contained a 47,XY,+1 chromosomal complement. (C) 2001 Wiley-Liss, Inc.