Prenatal and Postnatal Survival of Fetal Tetralogy of Fallot

Zhao, Yili; Abuhamad, Alfred; Fleenor, Jonathan; Guo, Yajun; Zhang, Wangshu; Cao, Dong-Yuan; Zeng, Shi; Sinkovskaya, Elena; Zhou, Qing

doi:10.7863/ultra.15.04055

Cited by 17 publications

(10 citation statements)

References 59 publications

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“…The reported rates of 22q11.2 deletion in TOF were varying from 0 to 18% [4, 16, 17]. A meta-analysis study demonstrated that 18.6% of fetal TOF was complicated with 22q11.2 deletion [18] and TOF with pulmonary stenosis was more frequently associated with major chromosomal anomalies, while 22q11.2 deletion syndrome occurred more common in fetal TOF with pulmonary atresia and TOF with an absent pulmonary valve syndrome [18]. In our series, prevalence rates of chromosomal anomalies and 22q11.2 deletion were not significantly different among TOF with pulmonary atresia, TOF with pulmonary stenosis and TOF with an absent pulmonary valve syndrome.…”

Section: Discussionmentioning

confidence: 99%

Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis

Ruan

Zheng

Xie

et al. 2019

Cardiovasc Ultrasound

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Background The etiology of TOF is complex and the genesis of TOF has been associated with environmental factors and genetic disorders, including chromosomal anomalies, aneuploidies, 22q11.2 deletion and single-gene disease. Previous literatures have shown that a chromosome alteration in about 30% patients with TOF and recently published articles reported that 22q11.2 deletion syndrome accounts for 16% cases with TOF diagnosed postnatally. CMA now is considered as gold standard for detecting genetic anomalies in fetuses with congenital malformations. CMA could detect a 6.6–25% incremental yield of CNVs in CHDs. The aim of this study was to assess the genetic anomalies in fetal tetralogy of Fallot (TOF) by using high-definition CMA. Methods This retrospective study reviewed all the fetuses diagnosed with TOF between 2013 and 2018. Prenatal ultrasongraphic findings, including cardiac angle, and the findings of CMA using Affymetrix CytoScan HD array were collected. Results Ninety-six fetuses with TOF and known genetic results were enrolled. Right aortic arch was the most common associated anomalies (22.9%). One fetus with trisomy 18, one with 46, XX, t (7;10)(q36;q22), one with 47, XYY and five with trisomy 21 were identified. Clinically significant CNVs occurred in 6.8% and uncertain significant CNVs in 3.4% fetal TOF with normal karyotype. A total of four cases with 22q11.2 microdeletion and two fetuses with Yq11.223q11.23 microduplication have been identified. Genetic anomalies, including chromosomal aberrations and pathogenic CNVs, were significantly higher in the TOF with extracardiac anomaly group than in the TOF without extracardiac anomaly group ( P = 0.005). Abnormal cardiac angle was noticed in 24.0% fetal TOF. Genetic anomalies were more common in the TOF with abnormal cardiac angle than with normal cardiac angle ( P = 0.001). On the other hand, abnormal cardiac angle was noticed in 64.3% fetal TOF with genetic anomalies while abnormal cardiac angle occurred in 17.1% fetal TOF with normal genetic results ( P = 0.001). Conclusions Genetic testing should be offered, specially using microarray analysis, for the fetal TOF with abnormal cardiac angle or extracardiac defects.

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Section: Discussionmentioning

confidence: 99%

Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis

Ruan

Zheng

Xie

et al. 2019

Cardiovasc Ultrasound

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“…This observed decline over time in mortality can be accounted for by several factors. Advances in prenatal diagnosis, that have enabled earlier detection of foetal anomalies [23, 28–31], specifically in Spain [32–34], plus advances in surgical intervention techniques [13, 14, 20, 35], also in Spain [36], are the main factors identified as being responsible for the decrease in mortality. In addition, this downturn has also been influenced by the implementation of and improvement in cardiac rehabilitation programmes [37–39] coupled with ambulatory management and follow-up [40].…”

Section: Discussionmentioning

confidence: 99%

“…While several studies have specifically analysed TOF patient mortality following surgical repair of the defect [11, 13–15], others have focused on overall CHD mortality [16–18]. In addition, some other TOF studies report on long-term outcome and survival analyses [19–23].…”

Section: Introductionmentioning

confidence: 99%

Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years

Llamosas-Falcón

Bermejo‐Sánchez

Sánchez-Díaz

et al. 2019

Orphanet J Rare Dis

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Background Tetralogy of Fallot (TOF) is the most frequent cyanotic congenital heart defect. TOF mortality has fallen remarkably in recent years due to therapeutic advances. Accordingly, the aim of this study was to assess temporal and spatial variability in TOF-related mortality in Spain across the period 1981–2016, using data drawn from the nationwide population-based registry. Methods Annual deaths due to TOF were sourced from the Spanish National Institute of Statistics database by reference to International Classification of Diseases (ICD), 9th and 10th Revision codes, namely, ICD-9 code 745.2 (period 1981–1998) and ICD-10 code Q21.3 (period 1999–2016). Age-specific and age-adjusted mortality rates were calculated, as were standardised mortality ratios (SMRs) by province, district and municipality for the period 1999–2016. Results A total of 1035 deaths were attributed to TOF (57.78% of them were men and 42.22% were women). The age-adjusted mortality rate ranged from 0.75 per 1,000,000 inhabitants (95% confidence interval [CI]: 0–1.36) in 1981 to 0.03 per 1,000,000 (95% CI: 0.01–0.06) in 2016 for both sexes. In 2011, there was a change in the mortality trend, with a significant decrease of 49.22% per year ( p < 0.001). In terms of geographical analysis, some areas with a significantly higher risk of TOF mortality were identified in the south of Spain, though no specific spatial pattern was in evidence. Conclusion The decrease in TOF mortality may be related to improvements in diagnostic and treatment techniques. More studies are needed to analyse regions with a higher mortality risk, in order to improve medical planning and resource allocation, and identify risk factors and preventive measures.

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“…Asymmetric fusion of the artery bulbar and truncal ridges resulting in anterosuperior displacement of the outlet septum generates tetralogy of Fallot 2 . The anterosuperior deviation of the outlet septum relative to the rest of the ventricular septum causes an anterior misalignment type of ventricular septal defect, pulmonary obstruction, overriding or dextroposition of the aorta, and right ventricular hypertrophy 7 . In addition to the main features, TOF is associated with other structural abnormalities 3 , such as a right aortic arch 5 , a deviated cardiac axis, an aberrant subclavian artery, and an absent ductus arteriosus 7 .…”

Section: Discussionmentioning

confidence: 99%

“…This case of TOF with PA featured a right aortic arch with left ductus arteriosus connected between the dilated left innominate artery and subpulmonary arteries. A recent study reported prenatal TOF detection rates of only 30-60% 1 , and differentiation of TOF subtypes with unusual associated malformations is even more challenging 1,7 . Ignorance of this potential connection between dilated left innominate artery and subpulmonary arteries via left ductus arteriosus can lead to misdiagnosed as absent ductus arteriosus.…”

Section: Discussionmentioning

confidence: 99%

A complex tetralogy of Fallot case with an unusual cluster of malformations diagnosed by multiple prenatal ultrasound views

Zhou

2020

Preprint

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Background Tetralogy of Fallot (TOF) is a complex congenital anomaly with a wide variety of prenatal presentations beyond the core malformations, creating difficulty in prenatal diagnosis, prognosis, and perinatal management. Indeed, TOF should be considered the ‘complex’ of Fallot. Case presentation Through a series of precise prenatal ultrasound views, we describe a rare case of complex TOF with multiple malformations including main pulmonary artery atresia, left ductus arteriosus connecting subpulmonary arteries to the left innominate artery, and a right aortic arch with mirror image branching. The prenatal diagnosis and all ultrasound findings were confirmed by autopsy. Conclusions Tetralogy of Fallot (TOF) is a complex congenital anomaly with various branches of blood vessels. A set of standard views plus additional views (the upper chest coronal view) are required for prenatal diagnosis of complex TOF.

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Prenatal and Postnatal Survival of Fetal Tetralogy of Fallot

Abstract: The postnatal outcomes, genetic testing results, and sonographic findings are different among subtypes of tetralogy of Fallot. Documenting those details at diagnosis can help specialists better counsel their patients.

Cited by 17 publications

References 59 publications

Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis

Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis

Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years

A complex tetralogy of Fallot case with an unusual cluster of malformations diagnosed by multiple prenatal ultrasound views

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