Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study

Abstract

Background Fetal skeletal dysplasia (FSD) comprises a complex group of systemic bone and cartilage disorders. Many FSD phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. The condition is typically diagnosed using sonography; however, three-dimensional computed tomography (3D-CT) also aids in making a prenatal diagnosis. This study aimed to examine the efficacy of 3D-CT in the prenatal diagnosis of FSD by comparing the diagnostic accuracy of fetal sonography and 3D-CT. Methods On suspicion of FSD based on ultrasound examination, we performed 3D-CT prenatally to obtain detailed skeletal information on FSD. To minimize exposure of the fetuses to radiation without compromising image quality, we used predetermined 3D-CT settings for volume acquisition. Results Nineteen fetuses were suspected of having skeletal dysplasia based on ultrasonography findings. Of these, 17 were diagnosed with FSD using 3D-CT. All 17 fetuses diagnosed with FSD prenatally were confirmed postnatally to have the condition. The postnatal diagnosis (campomelic dysplasia) differed from the prenatal diagnosis (osteogenesis imperfecta) in only one infant. Sixteen cases (94.1%) were diagnosed both prenatally and postnatally with FSD. Five infants had lethal skeletal dysplasia; one died in utero, and four died as neonates. We determined the appropriate delivery method for each infant based on the prenatal diagnosis. Conclusions 3D-CT is a valuable tool for augmenting ultrasound examinations in the diagnosis of FSD. While improving the diagnostic tool of sonography is essential in cases of suspected FSD, 3D-CT imaging is indispensable for diagnosis and classification, enabling better planning for resuscitation of the infant after birth. Trial registration University Hospital Medical Information Network (UMIN) Center trial registration number is UMIN000034744. Registered 1 October, 2018 – Retrospectively registered.

Current Overview of Osteogenesis Imperfecta

“…In another study, 3D-CT was performed on 19 foetuses with suspected skeletal dysplasia; the diagnosis was confirmed in 17 of them, including three with OI. In their study, 3D-HCT showed 100% sensitivity, specificity, and positive and negative predictive values, while sonography alone had sensitivity, specificity, and positive and negative predictive values of 100%, 85%, 89.5%, and 100%, respectively [ 48 ].…”

“…According to the International Commission of Radiological Protection, foetal radiation exposure of less than 100 mGy would have no practical significance and will not increase lifetime cancer risk [ 49 ]. The dose for 3D-HCT was a mean computed tomography dose index (CTDIvol) of 3.5 mGy, which is far below the 100 mGy limit [ 48 ]. Overall, 3D-HCT would be a valuable tool for the prenatal diagnosis of skeletal dysplasia, including OI.…”

Management of Advanced Medullary Thyroid Carcinoma with Vandetanib: Case Series

“…In the 2015Nosology and Classification of Genetic Skeletal Disorders (GSDs) there were 436 GSDs with hundreds of causative genes (Bonafe et al, 2015). Fetal skeletal dysplasia (FSD) comprises a complex group of systemic bone and cartilage disorders (Waratani et al, 2020).…”

The Application of Crown‐Chin Length to Crown‐Rump Length Ratio in Predicting Fetal Skeletal Dysplasia at First Trimester

“…Fetal skeletal dysplasia is a disease with generalized abnormalities of the skeleton, affecting approximately 2–5 of 10,000 births 1,2 . At present, the prenatal diagnosis of fetal skeletal dysplasia mostly relies on ultrasound, X‐ray, and magnetic resonance imaging 3–6 . On ultrasound, in the second and third trimesters, fetal skeletal dysplasia is primarily characterized by shortened long bones, narrow thorax, abnormal head shape, and polyhydramnios 7 .…”

“…1,2 At present, the prenatal diagnosis of fetal skeletal dysplasia mostly relies on ultrasound, X-ray, and magnetic resonance imaging. [3][4][5][6] On ultrasound, in the second and third trimesters, fetal skeletal dysplasia is primarily characterized by shortened long bones, narrow thorax, abnormal head shape, and polyhydramnios. 7 As with all other serious congenital anomalies, it is important to diagnose this condition as early as possible during pregnancy.…”