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Postnatal outcome of children with antenatal colonic hyperechogenicity
Florent Fuchs1,2, Alexis Rodriguez1, Eve Mousty3
1CHU de Montpellier, Gynecology and Obstetrics, Montpellier, France.
Insights
Antenatal colonic hyperechogenicity can indicate lysinuria-cystinuria or other severe conditions. Early genetic consultation and molecular diagnosis are crucial for accurate prognosis and parental decision-making.
Area of Science:
- Perinatal medicine
- Medical genetics
- Fetal diagnostics
Background:
- Antenatal colonic hyperechogenicity is often associated with lysinuria-cystinuria.
- However, it may also signify disorders with a more severe prognosis.
- Accurate diagnosis and prognosis are essential for effective prenatal counseling.
Purpose of the Study:
- To evaluate the postnatal outcomes of fetuses with antenatal colonic hyperechogenicity.
- To determine the prevalence of lysinuria-cystinuria and related disorders.
- To assess the diagnostic and prognostic implications of this finding.
Main Methods:
- A retrospective French multi-center study was conducted.
- 15 centers for prenatal diagnosis participated from January 2011 to January 2021.
- Data on investigations, clinical features, and diagnoses were collected for pregnancies with fetal colonic hyperechogenicity.
Main Results:
- Out of 33 cases, 63% were diagnosed with lysinuria-cystinuria (LC).
- Lysinuric protein intolerance (LPI) was identified in 8% of cases.
- Hypotonia-cystinuria syndrome (HC) was found in 4% of cases.
Conclusions:
- Prenatal management should involve geneticist consultation for further investigations, including amniotic fluid sampling for molecular diagnosis.
- Improved understanding of diagnoses and prognoses will enhance medical counseling.
- This will better guide parental decision-making regarding pregnancy management.
Objective:
To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria-cystinuria, but which may also be a sign of other disorders with a more severe prognosis.
Method:
We carried out a French multi-centric retrospective study via 15 Multidisciplinary Center for Prenatal Diagnosis from January 2011 to January 2021. We included pregnancies for which fetal colonic hyperechogenicity had been demonstrated. We collected the investigations performed during pregnancy and at birth as well as the main clinical features of the mother and the child. We then established the prevalence of pathologies such as lysinuria-cystinuria (LC), hypotonia-cystinuria syndrome (HC), or lysinuric protein intolerance (LPI).
Results:
Among the 33 cases of colonic hyperechogenicity collected, and after exclusion of those lost to follow-up, we identified 63% of children with lysinuria-cystinuria, 8% with lysinuric rotein intolerance, and 4% with hypotonia-cystinuria syndrome.
Conclusion:
Management of prenatal hyperechoic colon should include a specialized consultation with a clinical geneticist to discuss further investigations, which could include invasive amniotic fluid sampling for molecular diagnosis. A better understanding of diagnoses and prognosis should improve medical counseling and guide parental decision making.
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