An unusual case of tetralogy of Fallot with an absent pulmonary valve associated with a retro-aortic innominate vein in a patient with a 16p12.2 microdeletion

Linnane, Niall; Green, Andrew J.; McMahon, Colin J.

doi:10.1017/s1047951120004667

Cited by 4 publications

(2 citation statements)

References 3 publications

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“…In particular, there were five cases of intracranial venous and arteriovenous malformations (AVM) associated to LBCV dilation, four with a vein of Galen aneurysm, one with arteriovenous malformation of the dural sinus [ 8 ]. In cases with the retroesophageal course of the LBCV, there was one case of hydrops fetalis and VSD [ 19 ]; one case of esophageal atresia with tracheoesophageal fistula (EA-TEF); two cases of cystic hygroma and bilateral jugular lymphatic sac (JLS) [ 20 ], one case of single umbilical artery (SUA) [ 16 ], and one case with neurodevelopmental problems [ 29 ]. No cases of extracardiac anomalies associated with the intrathymic course of the LBCV were described in the papers reviewed; however, in our series, we observed one case with macrocephalus and facial dysmorphisms associated with the intrathymic course of the LBCV.…”

Section: Resultsmentioning

confidence: 99%

Prenatal Diagnosis and Postnatal Outcomes of Left Brachiocephalic Vein Abnormalities: Systematic Review

Gaeta

Fesslová

Villanacci

et al. 2022

JCM

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Abnormalities of the left brachiocephalic vein (LBCVA) are rare and poorly studied prenatally. An association with congenital heart defects (CHD), extracardiac and genetic abnormalities was described. The aim of our study was to estimate the rate and summarize the available evidence concerning prenatal diagnosis, associated anomalies, and outcomes of these anomalies. A systematic literature review was carried out selecting studies reporting on prenatal diagnosis of LBCVA, including unpublished cases from our experience. Frequencies were pooled from cohort studies to calculate prenatal incidence. Pooled proportions were obtained from all the studies including rates of associated CHD, extracardiac or genetic abnormalities and neonatal outcomes. The search resulted in the selection of 16 studies with 311 cases of LBCVA, with an incidence of 0.4% from six cohort studies. CHD occurred in 235/311 (75.6%) fetuses: 23 (7.4%) were major in cases of double, retroesophageal or subaortic course and 212 (68.2%) were minor in cases of absence (always associated with a persistent left superior vena cava) or intrathymic course. Data on other associated outcomes were scarce showing rare extracardiac anomalies (3.5%), rare genetic abnormalities (RASopathies and microdeletions associated with the retroesophageal course), and neonatal outcomes favorable in most cases, particularly in intrathymic forms.

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Section: Resultsmentioning

confidence: 99%

Prenatal Diagnosis and Postnatal Outcomes of Left Brachiocephalic Vein Abnormalities: Systematic Review

Gaeta

Fesslová

Villanacci

et al. 2022

JCM

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“…It has been associated with neurodevelopmental disorders, including cognitive impairment and behavioral problems (Girirajan et al, 2010 ), as well as, cardiac problems, hearing loss, and renal and cleft lip (Khau Van Kien et al, 2005 ). A recent case report described an unusual finding of tetralogy of Fallot in a 16p12.2 deletion patient (Linnane et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Clinical outcomes of fetuses with chromosome 16 short arm copy number variants

Kang

Lee

et al. 2023

Molec Gen & Gen Med

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Background The short arm of chromosome 16 consists of several copy number variants (CNVs) that are crucial in neurodevelopmental disorders; however, incomplete penetrance and diverse phenotypes after birth aggravate the difficulty of prenatal genetic counseling. Methods We screened 15,051 pregnant women who underwent prenatal chromosomal microarray analysis between July 2012 and December 2017. Patients with positive array results were divided into four subgroups based on the type of mutation identified on screening (16p13.3, 16p13.11, 16p12.2, and 16p11.2), and the maternal characteristics, prenatal examinations, and postnatal outcomes of different cases were reviewed. Results Chromosome 16 CNVs were identified in 34 fetuses, including four with 16p13.3 CNVs, 22 with 16p13.11 CNVs, two with 16p12.2 microdeletions, and six with 16p11.2 CNVs. Of the 34 fetuses, 17 delivered without early childhood neurodevelopmental disorders, three developed neurodevelopmental disorders during childhood, and 10 were terminated. Conclusion Incomplete penetrance and variable expressivity make prenatal counseling challenging. Most cases with inherited 16p13.11 microduplication were reported to have normal development in early childhood, and we also report a few cases of de novo 16p CNVs without further neurodevelopmental disorders.

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Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up

Cai,

Lin,

et al. 2024

Mol Biol Rep

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Objective Agenesis of the corpus callosum (ACC) is an anomaly that can occur in fetuses during pregnancy. However, there is currently no treatment for fetal ACC. Therefore, we conducted a retrospective analysis of obstetric outcomes of fetal ACC to explore the relationship between fetal ACC phenotypes and chromosomal copy number abnormalities. Methods and results Amniotic fluid or umbilical cord blood were extracted from pregnant women with fetal ACC for karyotype analysis and chromosomal microarray analysis (CMA). Among the 48 fetuses with ACC, 22 (45.8%, 22/48) had isolated ACC, and 26 (54.2%, 26/48) had non-isolated ACC. Chromosomal abnormalities were detected via karyotype analysis in four cases. In addition to the four cases of pathogenic copy number variations (CNVs) detected using karyotype analysis, CMA revealed two cases of pathogenic CNVs with 17q12 microduplication and 16p12.2 microdeletion. The obstetric outcomes of 26 patients with non-isolated ACC were followed up, and 17 chose to terminate the pregnancy. In addition, seven of the nine cases with non-isolated ACC showed no obvious abnormality during postnatal follow-up, whereas only one case with normal CMA showed an abnormal phenotype at six months. Of the 22 patients with isolated ACC, six chose to terminate the pregnancy. Postnatal follow-up of 16 isolated ACC cases revealed only one with benign CNV, presenting with intellectual disability. Conclusion Pregnant women with fetal ACC should be offered prenatal CMA, particularly non-isolated ACC. Patients with ACC should undergo prolonged postnatal follow-up, and appropriate intervention should be provided if necessary.

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An unusual case of tetralogy of Fallot with an absent pulmonary valve associated with a retro-aortic innominate vein in a patient with a 16p12.2 microdeletion

Cited by 4 publications

References 3 publications

Prenatal Diagnosis and Postnatal Outcomes of Left Brachiocephalic Vein Abnormalities: Systematic Review

Prenatal Diagnosis and Postnatal Outcomes of Left Brachiocephalic Vein Abnormalities: Systematic Review

Clinical outcomes of fetuses with chromosome 16 short arm copy number variants

Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up

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