Congenital cardiac anomalies are the most common anomalies, with an estimated incidence of about 4-13 per 1000 live births. Proper perinatal and neonatal management is dependent upon accurate prenatal diagnosis. Approximately 10% of foetuses with cardiac abnormalities have identified risk factors; hence, most of the anomalies occur in pregnancies without prenatal risk factors. Foetal echocardiography allows for prenatal diagnosis of congenital heart disease and serves as a routine screening tool for congenital heart defects. Advanced technology, has not only allowed more accurate and early detection of cardiac abnormalities but has also improved the care and outcome of selected foetuses with severe cardiac malformations or arrhythmias. It can also identify patients for in-utero cardiac interventions. Prenatal diagnosis of congenital heart disease has allowed for better counseling and preparation of families regarding the expected prenatal development of the foetus as well as the anticipated postnatal management strategy and prognosis.
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BMC Genomics
January 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, Hubei, 430030, China.
Background: Left-right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder.
Methods: Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies.
Am J Perinatol
January 2025
Division of Pediatric Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin.
Objective: Pregnant women face heightened vulnerability to mental health disorders (MHDs). There remains a lack of data during the antenatal period, particularly for high-risk subpopulations such as those with fetal anomalies. Understanding the psychological impact of women receiving a fetal anomaly diagnosis is crucial, as it can lead to MHDs.
View Article and Find Full Text PDFClin Rev Allergy Immunol
January 2025
Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.
View Article and Find Full Text PDFJ Hepatobiliary Pancreat Sci
January 2025
Department of Neonatal Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Background/purpose: Fetal hilar cyst is primarily diagnosed as two diseases after birth, cystic biliary atresia (CBA) and choledochal cyst (CC). The aim of our study was to explore more reliable indicators in early differential diagnosis of these cysts.
Methods: We recruited a total of 50 cases with a prenatal diagnosis of hepatic cyst at three centers, and patients were divided into a CBA group (n = 16) and CC group (n = 34) according to postnatal intraoperative diagnosis.
Front Genet
January 2025
Department of Laboratory, The Second People's Hospital of Yibin City, Yibin, Sichuan, China.
Objective: This study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies.
Methods: This retrospective study analyzed 617 high-risk pregnancies undergoing prenatal diagnosis from February 2023 to August 2024, with amniotic fluid samples concurrently analyzed using karyotyping, CNV-seq, and QF-PCR. We evaluated clinical characteristics, diagnostic yields, and inter-method concordance rates.
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