Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester

Abstract

We present two case reports of osteogenesis imperfecta associated with increased nuchal translucency in the first trimester. We also review the literature of first trimester diagnosis of skeletal dysplasias and their association with increased nuchal translucency.

Reference values for fetal limb biometry at 10–14 weeks of gestation

“…It should also be noted that there are reported cases of normal sonograms at 12-13 weeks of fetuses subsequently shown to have skeletal dysplasias 20,32,33 . Recently, an association between increased nuchal translucency in the first trimester and the presence of skeletal dysplasias has been described 24 . The availability of reference ranges for fetal limb bone measurements calculated at 10-14 weeks of gestation could be of support in the diagnosis of these cases.…”

Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester

“…Five cases (including ours) of OI presenting with increased NT thickness at 11-14 weeks' gestation have been reported so far (Table 1). [7][8][9] Long bone fractures were documented via sonography in the first trimester in only 1 of 5 cases. 7 Prenatal sonographic diagnosis of OI type II was made before 14 weeks' gestation in only a few cases.…”

“…[7][8][9] Long bone fractures were documented via sonography in the first trimester in only 1 of 5 cases. 7 Prenatal sonographic diagnosis of OI type II was made before 14 weeks' gestation in only a few cases. 2,7,9 Because the primary ossification centers of the long bones appear between 7 and 12 weeks' gestation, measurements of fetal long bones can be done accurately by 12 weeks' gestation.…”

“…7 Prenatal sonographic diagnosis of OI type II was made before 14 weeks' gestation in only a few cases. 2,7,9 Because the primary ossification centers of the long bones appear between 7 and 12 weeks' gestation, measurements of fetal long bones can be done accurately by 12 weeks' gestation. 10 We believe OI type II can be diagnosed before 14 weeks' gestation if fetal biometry is made when increased NT is noted during NT screening at 11-14 weeks' gestation.…”

Fetal Iskelet Sistemi Anomalileri

“…Anormal femur bulgusu olan 130 fetüs üzerinde yapılan bir çalışmada %31 İUGG saptanırken sadece iki fetüste iskelet displazisi olduğu ortaya çıkmıştır [7]. Artmış nukal translusensi durumunda iskelet displazisinin gelişebileceği literatürde belirtilmiştir [8]. Ulna proksimalde radiustan daha uzundur.…”