Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus

Julie Baron; Madeleine Joubert; Marie Denis Musquer; Louise Galmiche-Rolland; Anne Sophie Riteau; Véronique Pingault; Guillaume Dorval; Alice Yvard; Leila Ghesh

doi:10.1111/cge.70111

November 18, 2025Clinical GeneticsOpen Access

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus

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Key Points

To highlight the association between Hirschsprung disease and congenital central hypoventilation syndrome in stillborns.
Fetal autopsy performed on a stillborn fetus.
Genetic investigation conducted to identify associated syndromes.
Diagnosis of Hirschsprung disease on autopsy.
Identification of congenital central hypoventilation syndrome linked to PHOX2B variants.

Implication

Case report shows Hirschsprung disease diagnosed in a stillborn, indicating the importance of fetal autopsy and genetic counseling.

Abstract

Hirschsprung disease (HD) can be associated with congenital central hypoventilation syndrome (CCHS). CCHS is mostly due to PHOX2B pathogenic variants. First report of HD on fetal autopsy leading to CCHS diagnosis. Highlights the role of fetal autopsy in stillborn babies, to guide genetic investigation and refine genetic counseling.

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Cite This Study

Baron et al. (2025) studied this question.

synapsesocial.com/papers/6924fef9c0ce034ddc351fe8 https://doi.org/10.1111/cge.70111

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Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus

Key Points

Implication

Abstract

Discussion

Cite This Study

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus

Key Points

Implication

Abstract

Discussion

Cite This Study

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