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February 1, 2022Prenatal Diagnosis

Heterotaxy syndrome: Prenatal diagnosis, concomitant malformations and outcomes

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Key result

The presence of a conotruncal anomaly in fetuses with heterotaxy syndrome was an independent risk factor for mortality (HR 5.09; 95% CI 1.09-23.71; p=0.039).

Why the study?

The study aimed to define cardiac and extracardiac malformations in fetuses with heterotaxy syndrome and to determine perinatal and childhood prognosis.

Population

62 fetuses diagnosed with heterotaxy syndrome on antenatal ultrasonography

Comparison

Right atrial isomerism vs left atrial isomerism

Design

Retrospective study

Authors

MAMünip AkalınZeynep Kamil HospitalODOya DemirciZeynep Kamil HospitalPKPınar KumruIzmir University

Discussion

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Overview

In fetuses with heterotaxy syndrome, the presence of conotruncal anomalies, hydrops fetalis, and univentricular physiology are associated with poor outcomes and increased mortality.

Study Design

Type

Cohort (n=62)

Multicenter

No

Structured PICO

P
Population
62 fetuses diagnosed with heterotaxy syndrome on antenatal ultrasonography at a single tertiary center between 2014 and 2021.
O
Outcome
Cardiac and extracardiac malformations, and perinatal and childhood prognosis/mortalityhard clinical

Main Result

Hazard Ratio: 5.09 (95% CI 1.09–23.71)

p-value: p=0.039

In fetuses with heterotaxy syndrome, the presence of conotruncal anomalies, hydrops fetalis, and univentricular physiology are associated with poor outcomes and increased mortality.

Cite This Study

Akalın et al. (2022) conducted a cohort in Heterotaxy syndrome (n=62). Conotruncal anomaly vs. Absence of conotruncal anomaly was evaluated on Mortality (HR 5.09, 95% CI 1.09-23.71, p=0.039). The presence of a conotruncal anomaly in fetuses with heterotaxy syndrome was an independent risk factor for mortality (HR 5.09; 95% CI 1.09-23.71; p=0.039).

synapsesocial.com/papers/6a94841761244928ec0100dahttps://doi.org/10.1002/pd.6110
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart2013 · 695 citations
  2. 2Practice guidelines for performance of the routine mid‐trimester fetal ultrasound scan2010 · 1,026 citations
  3. 3Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects2021 · 33 citations
  4. 4Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations2008 · 179 citations