We aimed to assess the types of prenatally diagnosed congenital heart disease (CHD) and their association with structural and chromosomal abnormalities and to evaluate the perinatal outcomes according to the type of the heart defect. We retrospectively reviewed 377 pregnancies with prenatally diagnosed CHD. The main outcome measure was to evaluate the pregnancy outcomes of CHD according to the type of the heart defect and associated structural or chromosomal abnormalities. Of 377 foetuses with major structural CHD, 214 (56.8%) were isolated, 49 (13%) had additional cardiac anomalies, 58 (15.4%) had extracardiac malformations with normal karyotype and 56 (14.9%) had chromosomal abnormalities. The most common chromosomal abnormality was trisomy 21 (55.4%). Prenatal detection of CHD allows early workup to identify chromosomal abnormalities and detailed anatomic evaluation of extracardiac malformations. Prognostication of each heart defect at diagnosis and facilitating patients with isolated surgically correctable CHD for targeted postnatal care is essential.IMPACT STATEMENT CHD is the most common structural anomaly and is strongly associated with chromosomal anomalies and genetic syndromes. Survival of the prenatally diagnosed CHD depends on the type and severity of the condition and coexisting extracardiac structural or chromosomal abnormalities. Prenatal detection of CHD allows early workup to identify chromosomal abnormalities, detailed anatomic evaluation of extracardiac malformations and time to refer the parents to tertiary cardiac care centres and prepare for planned delivery, as well as to establish an appropriate perinatal and postnatal therapeutic plan.
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http://dx.doi.org/10.1080/01443615.2021.2000944 | DOI Listing |
Theor Appl Genet
January 2025
Horticultural Sciences Department, University of Florida, Gainesville, FL, 32611, USA.
In tetraploid F1 populations, traditional segregation distortion tests often inaccurately flag SNPs due to ignoring polyploid meiosis processes and genotype uncertainty. We develop tests that account for these factors. Genotype data from tetraploid F1 populations are often collected in breeding programs for mapping and genomic selection purposes.
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January 2025
Laboratoire Hospitalier Universitaire de Bruxelles - Universitair Laboratorium Brussel, Université Libre de Bruxelles LHUB-ULB, Brussels, Belgium.
Background: Synchronous malignant histiocytoses are rare conditions that occur concurrently with another hematologic neoplasm. Most reported cases are associated with B-cell lymphoproliferative disorders, while associations with T-cell hemopathies are less common. These two diseases may share mutations and/or cytogenetic anomalies, which can lead to malignant proliferations.
View Article and Find Full Text PDFBackground: AML-M4Eo is a type of AML characterized by malignant proliferation of granulocyte and monocyte precursor cells accompanied by eosinophilia. Patients present as anemia, infection, bleeding, and tissue and organ infiltration. MICM classification makes the classification of AML more accurate and lays a foundation for the correct treatment and prognosis of AML.
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December 2024
Department of Hematology, Yantai Yuhuangding Hospital Yantai 264001, Shandong, China.
This review discusses multiple aspects of follicular lymphoma (FL), including etiology, treatment challenges, and future perspectives. First, we delve into the etiology of FL, which involves a variety of pathogenic mechanisms such as gene mutations, chromosomal abnormalities, immune escape, immune system dysregulation, familial inheritance, and environmental factors. These mechanisms provide the context for understanding the diversity and complexity of FL.
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