Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis

Wang, Huaming; Lin, Xi; Li, Shangqing; He, Shaozheng; Dong, Bingtian; Yang, Yun-Liang

doi:10.1007/s00404-023-06910-3

Cited by 11 publications

(8 citation statements)

References 64 publications

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“…Moreover, 26 fetuses with cCHD presented with 23.08% (6/26) PCNVs including related to 3 kinds of syndromes, significantly higher than those with sCHD 9.52% (2/21) (Table 3), indicating pathogenic CNVs associated syndromes should be considered for compound CHD. In addition, the DR of PCNVs was significantly higher in niCHD with structural anomalies (38.1%, 8/21) than that in niCHD with soft index anomalies (21.43%, 3/14) (Additional file 2: Table S2), consistent with previous studies indicating that CHD fetuses with structural abnormalities are more likely to be related to genetic disorders [23,24]. Hence, more attentions should be paid to fetuses with multiple structural abnormalities besides CHD.…”

Section: Pregnancy Outcomes and Prognosis Classification Of All Casessupporting

confidence: 88%

Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes

Wang,

Sha,

Han

et al. 2024

Mol Cytogenet

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Background Both copy number variant-sequencing (CNV-seq) and karyotype analysis have been used as powerful tools in the genetic aetiology of fetuses with congenital heart diseases (CHD). However, CNV-seq brings clinicians more confusions to interpret the detection results related to CHD with or without extracardiac abnormalities. Hence, we conducted this study to investigate the clinical value of CNV-seq in fetuses with CHD. Results A total of 167 patients with fetal CHD including 36 single CHD (sCHD), 41 compound CHD (cCHD) and 90 non-isolated CHD (niCHD) were recruited into the study. 28 cases (16.77%, 28/167) were revealed with chromosomal abnormalities at the level of karyotype. The pathogenic detection rate (DR) of CNV-seq (23.17%, 19/82) was higher than that of karyotyping (15.85%, 13/82) in 82 cases by CNV-seq and karyotyping simultaneously. The DR of pathogenic copy number variations (PCNVs) (31.43%) was higher in niCHD subgroup than that in sCHD and cCHD (9.52% and 23.08%). Conotruncal defect (CTD) was one of the most common heart malformations with the highest DR of PCNVs (50%) in 7 categories of CHD. In terms of all the pregnancy outcomes, 67 (40.12%) cases were terminated and 100 (59.88%) cases were live neonates. Only two among 34 cases with a pathogenic genetic result chose to continue the pregnancy. Conclusions CNV-seq combined with karyotyping is a reliable and accurate prenatal technique for identifying pathogenic chromosomal abnormalities associated with fetal CHD with or without extracardiac abnormalities, which can assist clinicians to perform detailed genetic counselling with regard to the etiology and related outcomes of CHD.

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Section: Pregnancy Outcomes and Prognosis Classification Of All Casessupporting

confidence: 88%

Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes

Wang,

Sha,

Han

et al. 2024

Mol Cytogenet

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“…Due to significant technical advances in human genome research, genetics has now been found to play a crucial role in the development of CHD. Evidence initially emerged from examining patients with syndromic CHD through karyotyping, which identified aneuploidies such as trisomy 13, 18, or 21 (Down syndrome) and monosomy X (Turner syndrome) in approximately 12% of CHD patients [9]. Cytogenetic analyses and genomic arrays have aided in the understanding of subchromosomal structural rearrangements.…”

Section: Geneticsmentioning

confidence: 99%

“…Most human variants have a heterozygous dosage, and while experimental models usually examine homozygous variants, data on congenital heart disease obtained from human studies can reveal information about less obvious impacts on heart formation. Furthermore, patients with critical and complex malformations display the greatest frequency of de novo damaging variants in genes linked to CHD, which provides convincing evidence of severe adverse effects on reproductive health and the evolutionary restriction on numerous genes connected with CHD [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25]. Figure 3.…”

Section: Geneticsmentioning

confidence: 99%

In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease

Nappi

2024

IJMS

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The use of next-generation sequencing has provided new insights into the causes and mechanisms of congenital heart disease (CHD). Examinations of the whole exome sequence have detected detrimental gene variations modifying single or contiguous nucleotides, which are characterised as pathogenic based on statistical assessments of families and correlations with congenital heart disease, elevated expression during heart development, and reductions in harmful protein-coding mutations in the general population. Patients with CHD and extracardiac abnormalities are enriched for gene classes meeting these criteria, supporting a common set of pathways in the organogenesis of CHDs. Single-cell transcriptomics data have revealed the expression of genes associated with CHD in specific cell types, and emerging evidence suggests that genetic mutations disrupt multicellular genes essential for cardiogenesis. Metrics and units are being tracked in whole-genome sequencing studies.

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“…If a fetal echocardiogram is normal in a fetus with a first-degree relative with left-sided heart disease, a postnatal echocardiogram is still recommended to rule out a bicuspid aortic valve [37,39]. Fetal arrhythmia, extracardiac or chromosomal abnormalities [40][41][42][43], monochorionic twinning, and a suspected abnormality on obstetric ultrasound are all indications for fetal echocardiographic screening. A fetal echocardiogram can determine the mechanism of an arrhythmia, indications for treatment, and evaluate for associated CHD [19,44].…”

Section: Indications For Fetal Echocardiographymentioning

confidence: 99%

“…Fetal arrhythmia, extracardiac or chromosomal abnormalities [40–43], monochorionic twinning, and a suspected abnormality on obstetric ultrasound are all indications for fetal echocardiographic screening. A fetal echocardiogram can determine the mechanism of an arrhythmia, indications for treatment, and evaluate for associated CHD [19,44].…”

Section: Indications For Fetal Echocardiographymentioning

confidence: 99%

Cardiac problems in the fetus: a review for pediatric providers

Paul

Cohen

Geiger

2023

Current Opinion in Pediatrics

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Purpose of review The aim of this study was to provide pediatric providers with a review of the diagnosis and management of fetal cardiac disease in the current era. Recent findings Prenatal detection of congenital heart disease (CHD) has improved but is still imperfect. In experienced hands, fetal echocardiography can detect severe CHD as early as the first trimester and a majority of more subtle conditions in the second and third trimesters. Beyond detection, a prenatal diagnosis allows for lesion-specific counseling for families as well as for development of a multidisciplinary perinatal management plan, which may involve in-utero treatment. Given the diversity of cardiac diagnoses and the rarity of some, collaborative multicenter fetal cardiac research has gained momentum in recent years. Summary Accurate diagnosis of fetal cardiac disease allows for appropriate counseling, pregnancy and delivery planning, and optimization of immediate neonatal care. There is potential for improving fetal CHD detection rates. Fetal interventions are available for certain conditions, and fetal and pediatric cardiac centers have developed management plans specific to the expected postnatal physiology.

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Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis

Cited by 11 publications

References 64 publications

Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes

Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes

In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease

Cardiac problems in the fetus: a review for pediatric providers

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