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Rotational-invariant speckle-scanning ultrasonography through thick bones.

ABSTRACT: Ultrasonography is a major medical imaging technique that has been broadly applied in many disease diagnoses. However, due to strong aberration and scattering in the human skull, high-resolution transcranial ultrasonic imaging remains a grand challenge. Here, we explore the rotational-invariant property of ultrasonic speckle and develop high-resolution speckle-scanning ultrasonography to image sub-millimeter-sized features through thick bones. We experimentally validate the rotational invariance of ultrasonic speckle. Based on this property, we scan a random ultrasonic speckle pattern across an object sandwiched between two thick bones so that the object features can be encoded to the ultrasonic waves. After receiving the transmitted ultrasonic waves, we reconstruct the image of the object using an iterative phase retrieval algorithm. We successfully demonstrate imaging of hole and tube features sized as fine as several hundreds of microns between two 0.5 ~ 1-cm-thick bones. With 2.5-MHz excitation and the third-harmonic detection, we measure the spatial resolution as 352 µm. Rotational-invariant speckle-scanning ultrasonography offers a new approach to image through thick bones and paves an avenue towards high-resolution ultrasonic imaging of the human brain.

SUBMITTER: Liang S

PROVIDER: S-EPMC8270910 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Background: Prenatal diagnosis of fetal short long bones (SLBs) was reported to be associated with skeletal dysplasias, chromosomal abnormalities, and genetic syndromes. This study aims to identify the genetic causes for fetal short long bones, and retrospectively evaluate the additional diagnostic yield of exome sequencing (ES) for short long bones following the use of conventional genetic testing. Methods: A cohort of ninety-four fetuses with sonographically identified short long bones was analyzed by trio-exome sequencing between January 2016 and June 2021. Fetuses with abnormal results of karyotype or chromosomal microarray analysis were excluded. Variants were interpreted based on ACMG/AMP guidelines. All diagnostic de novo variants were validated by Sanger sequencing. Results: Of the 94 fetuses, 38 (40.4%) were found to carry causal genetic variants (pathogenic or likely pathogenic) in sixteen genes with 38 variants. Five fetuses (5.3%) had variant(s) of uncertain significance. Thirty-five cases (37.2%) were diagnosed as genetic skeletal dysplasias including 14 different diseases that were classified into 10 groups according to the Nosology and Classification of Genetic Skeletal Disorders. The most common disease in the cohort was achondroplasia (28.9%), followed by osteogenesis imperfecta (18.4%), thanatophoric dysplasia (10.5%), chondrogenesis (7.9%), and 3-M syndrome (5.3%). The diagnostic yield in fetuses with isolated short long bones was lower than the fetuses with non-isolated short long bones, but not reached statistical significance (27.3% vs. 44.4%; p = 0.151). Whereas, the rate in the fetuses with other skeletal abnormalities was significantly higher than those with non-skeletal abnormalities (59.4% vs. 32.5%, p = 0.023), and the diagnostic rate was significantly higher in femur length (FL) below -4SDs group compared with FL 2-4SDs below GA group (72.5% vs. 16.7%; p < 0.001). A long-term follow-up showed that outcomes for fetuses with FL 2-4SDs below GA were significantly better than those with FL below -4SDs. Additionally, fourteen (36.8%) novel short long bones-related variants were identified in the present study. Conclusion: The findings suggest that in fetuses with short long bones routine genetic tests failed to determine the underlying causes, exome sequencing could add clinically relevant information that could assist the clinical management of pregnancies. Novel pathogenic variants identified may broaden the mutation spectrum for the disorders and contributes to clinical consultation and subsequent pregnancy examination.

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Rotational-invariant speckle-scanning ultrasonography through thick bones.

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