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http://dx.doi.org/10.1002/pd.1970131215 | DOI Listing |
Genome Res
January 2025
Center for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China;
The discovery of circulating fetal and tumor cell-free DNA (cfDNA) molecules in plasma has opened up tremendous opportunities in noninvasive diagnostics such as the detection of fetal chromosomal aneuploidies and cancers and in posttransplantation monitoring. The advent of high-throughput sequencing technologies makes it possible to scrutinize the characteristics of cfDNA molecules, opening up the fields of cfDNA genetics, epigenetics, transcriptomics, and fragmentomics, providing a plethora of biomarkers. Machine learning (ML) and/or artificial intelligence (AI) technologies that are known for their ability to integrate high-dimensional features have recently been applied to the field of liquid biopsy.
View Article and Find Full Text PDFUltrasound Q
March 2025
Department of Echocardiography, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230001, China.
Berry syndrome is a rare combination of cardiac malformations, which is characterized by the following malformations, including the aortopulmonary window, aortic right pulmonary origin, interrupted aortic arch or hypoplastic aortic arch or coarctation of the aorta, and an intact ventricular septum. There are few reviews on prenatal diagnosis of Berry syndrome by fetal echocardiography. We used sequential cross-sectional scanning from apex to bottom of the heart to find aortic right pulmonary origin, aortopulmonary window, and hypoplastic aortic arch.
View Article and Find Full Text PDFRev Paul Pediatr
January 2025
Universidade Federal de Goiás, Institute of Tropical Pathology and Public Health, Parasite-Host Relationship Studies Laboratory, Goiânia, GO, Brazil.
Objective: To describe two severe cases of congenital toxoplasmosis in infants born to chronically infected mothers who did not receive education or information on the prevention of gestational toxoplasmosis during prenatal care.
Case Description: The mothers had a previous serological diagnosis of toxoplasmosis conducted during prenatal care, with non-reactive (<10 IU/mL) IgM and reactive IgG (>10 IU/mL), and were considered "immune" to the infection. Both infants were born with sequelae of the congenital infection, including neurological and ocular alterations.
Pediatr Cardiol
January 2025
Division of Pediatric Cardiology, UT Southwestern, Children's Medical Center, Dallas, TX, USA.
Total anomalous pulmonary venous return (TAPVR) is a high risk and rare cardiac malformation with a low prenatal detection rate and predicting obstruction in these cases is difficult. We sought to investigate fetal echocardiographic parameters associated with postnatal pulmonary venous obstruction (PPVO). We performed a retrospective review of 26 patients with TAPVR who had a fetal echocardiogram from 2010 to 2021.
View Article and Find Full Text PDFHua Xi Kou Qiang Yi Xue Za Zhi
February 2025
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China.
Congenital orofacial cleft, the most common birth defect in the maxillofacial region, exhibits a wide range of prognosis depending on the severity of deformity and underlying etiology. Non-syndromic congenital orofacial clefts typically present with milder deformities and more favorable treatment outcomes, whereas syndromic congenital orofacial clefts often manifest with concomitant organ abnormalities, which pose greater challenges for treatment and result in poorer prognosis. This consensus provides an elaborate classification system for varying degrees of orofacial clefts along with corresponding diagnostic and therapeutic guidelines.
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