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Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution.
Quant Imaging Med Surg
December 2024
Department of Obstetrics and Gynecology, Graduate School of Medicine Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Background: Fetal skeletal dysplasia (FSD) is a group of systemic bone and cartilage disorders that develop prenatally and can be detected using fetal ultrasonography. However, it is unsuitable for skeletal analysis because it is reflected by supersonic waves in the bone cortex. Three-dimensional computed tomography (3D-CT) is a suitable alternative and has improved the differential diagnosis of FSD during pregnancy.
View Article and Find Full Text PDFConsolidated and updated ultrasonographic fetal biometry and estimated fetal weight references for the Hong Kong Chinese population.
Hong Kong Med J
December 2024
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Introduction: This study aimed to construct consolidated and updated ultrasonographic fetal biometry and estimated fetal weight (EFW) references for the Hong Kong Chinese population and evaluate the extent of under- and overdiagnosis of small-for-gestational-age (SGA) and large-for-gestational-age (LGA) using these new references.
Methods: Fetal biometry and EFW references were constructed using the Generalised Additive Model for Location, Scale, and Shape, based on data from 1679 singleton pregnancies in non-smoking Chinese women. Ultrasound scans were performed at 12 to 40 weeks of gestation to measure biparietal diameter, head circumference, abdominal circumference (AC), and femur length, following standardised protocols.
Routine 36-week scan: prediction of small-for-gestational- age neonate.
Ultrasound Obstet Gynecol
November 2024
Fetal Medicine Research Institute, King's College Hospital, London, UK.
Objectives: First, to compare the predictive performance of routine ultrasonographic estimated fetal weight (EFW) at 31 + 0 to 33 + 6 and 35 + 0 to 36 + 6 weeks' gestation for delivery of a small-for-gestational-age (SGA) neonate. Second, to compare the predictive performance of EFW at 36 weeks' gestation for SGA vs fetal growth restriction (FGR) at birth. Third, to compare the predictive performance for delivery of a SGA neonate of EFW < 10 percentile vs a model combining maternal demographic characteristics and elements of medical history with EFW.
View Article and Find Full Text PDF[Clinical and genetic analysis of a child with Spondyloocular syndrome due to compound heterozygous variants of XYLT2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Department of Medical Genetics, the Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, Hunan 410007, China.
Objective: To explore the clinical characteristics and genetic etiology of a child with Spondyloocular syndrome (SOS) in order to enhance the awareness and understanding of this disease.
Methods: A 3.5-year-old boy with SOS who had presented at the Department of Medical Genetics of Hunan Children's Hospital on August 10, 2023 due to the repeated fractures for over 2 years and after binocular cataract surgery was selected as the study subject.
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