Surveillance guidelines for children with trisomy 13

Kepple, Jeffrey W.; Fishler, Kristen; Peeples, Eric S.

doi:10.1002/ajmg.a.62133

Cited by 9 publications

(5 citation statements)

References 52 publications

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“…For example, Trisomy 21, Turner syndrome, and 22q11.2 deletion syndrome all have age-based care guidelines [42,[80][81][82]. There are also surveillance recommendations for patients with Trisomy 13 and Trisomy 18 [83,84]. In addition, fatty acid oxidation disorders like very long chain acyl-CoA dehydrogenase deficiency and organic acidemias, such as propionic acidemia, have specific dietary guidelines [85,86].…”

Section: Future Directionsmentioning

confidence: 99%

Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

Pidaparti,

Geddes,

Durbin

2024

JCM

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Congenital heart disease (CHD) and cardiomyopathies are the leading cause of morbidity and mortality worldwide. These conditions are often caused by genetic factors, and recent research has shown that genetic and genomic testing can provide valuable information for patient care. By identifying genetic causes, healthcare providers can screen for other related health conditions, offer early interventions, estimate prognosis, select appropriate treatments, and assess the risk for family members. Genetic and genomic testing is now the standard of care in patients with CHD and cardiomyopathy. However, rapid advances in technology and greater availability of testing options have led to changes in recommendations for the most appropriate testing method. Several recent studies have investigated the utility of genetic testing in this changing landscape. This review summarizes the literature surrounding the clinical utility of genetic evaluation in patients with CHD and cardiomyopathy.

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Section: Future Directionsmentioning

confidence: 99%

Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

Pidaparti,

Geddes,

Durbin

2024

JCM

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“…Given the high incidence of CHD in the trisomies, cardiac screening is important in fetuses and children with suspected or confirmed T21, T18, or T13 [9 ▪ ,12,13,14 ▪ ]. Additionally, screening for associated noncardiac congenital anomalies helps to inform decision-making and ensure proper surveillance.…”

Section: Current Management Of Congenital Heart Disease In Childrenmentioning

confidence: 99%

The common trisomy syndromes, their cardiac implications, and ethical considerations in care

Kosiv

Mercurio

Carey

2023

Current Opinion in Pediatrics

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Purpose of review To review the incidence of congenital heart disease in the trisomies, highlight the history of cardiac surgery in trisomy 21 comparing it to the increase in cardiac surgery in trisomies 13 and 18, discuss ethical issues specific to trisomies 13 and 18, and suggest a pathway of shared decision-making in the management of congenital heart disease in trisomy 13 and 18, specifically congenital heart surgery. Recent findings Congenital heart disease is prevalent in the trisomies and the management of these defects, especially surgical intervention, has changed. In the late 20th century, survival after cardiac surgery in trisomy 21 vastly improved, significantly decreasing morbidity and mortality secondary to pulmonary hypertension. Similarly, procedures and surgeries have been performed with increasing frequency in trisomy 13 and 18 patients and concomitantly, survival in this patient population is increasing. Yet across the United States, the willingness to perform cardiac surgery in trisomy 13 and 18 is variable, and there is ethical controversy about the correct action to take. To address this concern, a shared decision-making approach with an informed parent(s) is advised. Summary As the care and management of congenital heart disease changed in trisomy 21, so too it has with trisomy 13 and 18. Physicians and parents should develop goal-directed treatment plans balancing the risk versus benefit and consider cardiac surgical repair if feasible and beneficial.

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“…3A). Trisomy 21, 18, and 13 fetuses commonly have severe mental retardation, prenatal multiple organ malformations, reproductive organ dysplasia, and growth retardation [36][37][38]. These fetuses result from chromosomal aberrations, the non-disjunction of homologous chromosomes or chromatids that occurs during oocyte meiosis process.…”

Section: Gene Annotations Indicate That Differential Genes Were Prima...mentioning

confidence: 99%

Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile

Zhang

et al. 2022

J Transl Med

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Background Chromosomal aneuploidy is the most common birth defect. However, the developmental mechanism and gene expression profile of fetuses with chromosomal aneuploidy are relatively unknown, and the maternal immune changes induced by fetal aneuploidy remain unclear. The inability to obtain the placenta multiple times in real-time is a bottleneck in research on aneuploid pregnancies. Plasma cell-free DNA (cfDNA) carries the gene expression profile information of its source cells and may be used to evaluate the development of fetuses with aneuploidy and the immune changes induced in the mother owing to fetal aneuploidy. Methods Here, we carried out whole-genome sequencing of the plasma cfDNA of 101 pregnant women carrying a fetus with trisomy (trisomy 21, n = 42; trisomy 18, n = 28; trisomy 13, n = 31) based on non-invasive prenatal testing (NIPT) screening and 140 normal pregnant women to identify differential genes according to the cfDNA nucleosome profile in the region around the transcription start sites (TSSs). Results The plasma cfDNA promoter profiles were found to differ between aneuploid and euploid pregnancies. A total of 158 genes with significant differences were identified, of which 43 genes were upregulated and 98 genes were downregulated. Functional enrichment and signaling pathway analysis were performed based on Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) databases found that these signal pathways were mainly related to the coordination of developmental signals during embryonic development, the control of cell growth and development, regulation of neuronal survival, and immune regulation, such as the MAPK, Hippo, TGF-β, and Rap1 signaling pathways, which play important roles in the development of embryonic tissues and organs. Furthermore, based on the results of differential gene analysis, a total of 14 immune-related genes with significant differences from the ImmPort database were collected and analyzed. These significantly different immune genes were mainly associated with the maintenance of embryonic homeostasis and normal development. Conclusions These results suggest that the distribution characteristics of cfDNA nucleosomes in maternal plasma can be used to reflect the status of fetal development and changes of the immune responses in trisomic pregnancies. Overall, our findings may provide research ideas for non-invasive detection of the physiological and pathological states of other diseases.

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Surveillance guidelines for children with trisomy 13

Cited by 9 publications

References 52 publications

Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

The common trisomy syndromes, their cardiac implications, and ethical considerations in care

Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile

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