Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester: a case report

Abstract

Background:  Nuchal translucency (NT) has been used successfully in screening for chromosomal abnormalities at 11–14 weeks of gestation. Increased NT thickness is also associated with lots of fetal anomalies in chromosomally normal fetuses. We report a case of osteogenesis imperfecta (OI), type II, presenting with increased NT thickness. A 26‐year‐old Taiwanese woman, gravida 2, para 1, without medical or family history was scanned for confirmation of menstrual gestational age at 13 weeks of gestation. Crown‐rump length was compatible with menstrual age. Increased NT thickness was noted (3.6 mm). Follow up scan 2 weeks later revealed hypomineralization of skull, multiple fractures of long bones and ribs and severe micromelia. A presumptive diagnosis of OI type II was made based on sonographic findings. After counseling, the parents decided to terminate the pregnancy. A stillborn weighing 70 g was delivered after intravaginal misoprostol application. Postmortem radiograph and autopsy confirmed the diagnosis of OI.