Research: Prenatal and Postnatal Ultrasound Findings of Congenital Diaphragmatic Hernia Associated With Myelomeningocele, Chiari II Malformation, and Renal Dysplasia

Darlene Silverman July 15, 2026 (Last updated: July 15, 2026)

J Clin Ultrasound

. 2026 Jun 30.

doi: 10.1002/jcu.70326. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/42374849/

Prenatal and Postnatal Ultrasound Findings of Congenital Diaphragmatic Hernia Associated With Myelomeningocele, Chiari II Malformation, and Renal Dysplasia

Fatih Isleyen¹, Muzeyyen Kalkan²

Affiliations Expand

PMID: 42374849
DOI: 10.1002/jcu.70326

Abstract

Congenital diaphragmatic hernia (CDH) associated with neural tube defects is exceedingly rare. We report a female neonate (2550 g) born at 35 weeks (Apgar 2/4/5) with severe left-sided Bochdalek CDH, lumbosacral myelomeningocele, Chiari II malformation, and unilateral renal dysplasia. Maternal history revealed no folic acid supplementation. Despite intensive care and inhaled nitric oxide for persistent pulmonary hypertension, the patient died at 72 h. This case highlights the value of prenatal ultrasound in detecting multisystem anomalies and supports the concept of early embryologic mesodermal disruption, potentially exacerbated by nutritional deficiencies.

Keywords: Arnold–Chiari malformation; congenital diaphragmatic hernia; meningomyelocele; renal dysplasia; ultrasonography.

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Darlene Silverman

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CDH Research International

Founded in 1995 as CHERUBS, CDH Research International is the global non-profit working to help over 7000 patient families in 80 countries by raising awareness and supporting Congenital Diaphragmatic Hernia Research.

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