Outcome of prenatally diagnosed fetal heterotaxy: systematic review and meta‐analysis

Buca, D.; Khalil, Asma; Rizzo, Giuseppe; Familiari, Alessandra; Giovanni, Simone Di; Liberati, Marco; Murgano, Daniela; Ricciardulli, A.; Fanfani, Francesco; Scambia, Giovanni; D’Antonio, Francesco

doi:10.1002/uog.17546

Cited by 40 publications

(56 citation statements)

References 49 publications

(69 reference statements)

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“…Interruption of inferior vena cava (IVC) with azygos continuation is considered a proxy of LAI. Likewise, juxtaposition of aorta and IVC in fetuses presenting with major congenital heart disease leads to the suspicion of RAI . Frequently, RAI has more severe CHD, often requires single ventricle palliation, and carries a worse prognosis .…”

Section: Developmental Field Disorders and Associationsmentioning

confidence: 99%

“…Arrhythmia is rare (1.3%). Abnormal stomach position (54.5%), abnormal liver position (45.9%), and intestinal malrotation (27.1%) are common …”

Section: Developmental Field Disorders and Associationsmentioning

confidence: 99%

“…As with right isomerism, abnormal stomach position (59.4%), abnormal liver position (32.5%), and intestinal malrotation in 14.2% are common. Hydrops can develop (11.8%), and there are increased rates of fetal death because of the atrioventricular block and sinus node dysfunction . Death during or after surgery occurs in 26.8% of prenatal cases …”

Section: Developmental Field Disorders and Associationsmentioning

confidence: 99%

“…Likewise, juxtaposition of aorta and IVC in fetuses presenting with major congenital heart disease leads to the suspicion of RAI. 198 Frequently, RAI has more severe CHD, often requires single ventricle palliation, and carries a worse prognosis. 199 Cardiac anomalies are present in 99% of RAI with AVSD being the most common finding (72%).…”

Section: Prenatal Ultrasound Findingsmentioning

confidence: 99%

“…Abnormal stomach position (54.5%), abnormal liver position (45.9%), and intestinal malrotation (27.1%) are common. 198,200 In the fetus with LAI, cardiac anomalies include AVSD in 59.3%,…”

Section: Prenatal Ultrasound Findingsmentioning

confidence: 99%

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Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process.

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Section: Developmental Field Disorders and Associationsmentioning

confidence: 99%

“…Arrhythmia is rare (1.3%). Abnormal stomach position (54.5%), abnormal liver position (45.9%), and intestinal malrotation (27.1%) are common …”

Section: Developmental Field Disorders and Associationsmentioning

confidence: 99%

Section: Developmental Field Disorders and Associationsmentioning

confidence: 99%

Section: Prenatal Ultrasound Findingsmentioning

confidence: 99%

“…Abnormal stomach position (54.5%), abnormal liver position (45.9%), and intestinal malrotation (27.1%) are common. 198,200 In the fetus with LAI, cardiac anomalies include AVSD in 59.3%,…”

Section: Prenatal Ultrasound Findingsmentioning

confidence: 99%

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Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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Cardiac Malposition and Heterotaxy Syndrome

Rogers

Cohen

2021

Echocardiography in Pediatric and Congenital Heart Disease

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Left–right patterning in congenital heart disease beyond heterotaxy

Gabriel

2020

American J of Med Genetics Pt C

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Congenital heart defect is one of the most common structural birth defects in the human population. It is highly associated with heterotaxy, a birth defect involving randomized left–right patterning of visceral organ situs. Large scale mouse forward genetics have led to the finding of a central role for cilia in CHD pathogenesis, with some cilia and non‐cilia mutations causing CHD with heterotaxy. Interestingly, many of the mutations causing CHD with heterotaxy can give rise to three laterality outcomes comprising normal situs solitus, mirror symmetric situs inversus totalis, or randomized situs with heterotaxy. Given CHD is largely observed only with heterotaxy, this suggests a new paradigm is needed for investigating the genetics of CHD associated with heterotaxy. Furthermore, analysis of data from multiple large birth cohorts have independently confirmed a broader involvement of laterality disturbance in CHD. This was demonstrated by the common cooccurrence of rare laterality defects with CHD lesions of a wide spectrum. These findings suggest left–right patterning is tightly intertwined with the developmental processes that regulate cardiac morphogenesis and its disturbance may contribute to all types of CHD even in the absence of laterality defects.

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Outcome of prenatally diagnosed fetal heterotaxy: systematic review and meta‐analysis

Cited by 40 publications

References 49 publications

Fetal cardiac abnormalities: Genetic etiologies to be considered

Fetal cardiac abnormalities: Genetic etiologies to be considered

Cardiac Malposition and Heterotaxy Syndrome

Left–right patterning in congenital heart disease beyond heterotaxy

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