Trisomy 1 in a case of a missed abortion

Abstract

Most chromosomal trisomies lead to miscarriages. In all trisomies, trisomy 1 is the most rare case. We herein present a patient who demonstrated a gestational sac and a yolk sac on transvaginal ultrasound. However, at 53 days of gestation, the pregnancy was lost with a diagnosis of a blighted ovum. A D&C was recommended and performed. A cytogenetic analysis from chorionic villi demonstrated a 47,XX, + 1 chromosome complement in all 100 cells. Regarding full trisomy 1, there has only been one case report of a preembryo and two case reports in a clinically recognized pregnancy to date.