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Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine & Child Neurology, vol. 67, pp. 1383–1408

Abstract

Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment. The pathogenesis of these lesions encompasses a range of causes, including haemorrhagic, embolic, or other vascular events; exposure to teratogens, such as drugs or substance abuse; congenital brain infections; genetic conditions; and metabolic disorders. Cranial ultrasonography is the first-line imaging modality to diagnose these antepartum brain lesions in the newborn infant; it is often complemented by brain magnetic resonance imaging to detect associated neuronal dysmigration and dysplasia. Using a pictorial approach, a differential diagnosis of foetal disruptive brain lesions and common findings related to antenatal brain damage can be made, including antenatal haemorrhagic and ischaemic brain injuries, porencephaly, schizencephaly, multicystic encephalomalacia, and hydranencephaly, as well as germinolytic cysts and lenticulostriate vasculopathy. The main conditions associated with foetal brain disruption, such as genetic cerebral vascular diseases, monochorionic twin pregnancies, congenital heart disease, maternal drug use, congenital infections, and inborn errors of metabolism can be used to illustrate typical imaging patterns that, when combined with clinical presentation, can assist in identifying the underlying mechanisms and causes, thus supporting individualized patient management.

Authors 8

  1. Hospital Sant Joan de Déu Barcelona · Hospital Clínic de Barcelona · Institut de Recerca Sant Joan de Déu · Universitat de Barcelona

    Affiliation as printed

    Department of Neonatology Hospital Clínic Barcelona, BCNatal (Barcelona Centre for Maternal, Fetal and Neonatal Medicine) Barcelona Spain

    Department of Neonatology Hospital Sant Joan de Déu, BCNatal (Barcelona Centre for Maternal, Fetal and Neonatal Medicine) Barcelona Spain

    Department of Surgery and Medical‐Surgical Specialties, Faculty of Medicine and Health Sciences Universitat de Barcelona Barcelona Spain

    Institut de Recerca Sant Joan de Déu Barcelona Spain

  2. Hospital Sant Joan de Déu Barcelona · Institut de Recerca Sant Joan de Déu · Universitat de Barcelona

    Affiliation as printed

    Department of Neonatology Hospital Sant Joan de Déu, BCNatal (Barcelona Centre for Maternal, Fetal and Neonatal Medicine) Barcelona Spain

    Department of Surgery and Medical‐Surgical Specialties, Faculty of Medicine and Health Sciences Universitat de Barcelona Barcelona Spain

    Institut de Recerca Sant Joan de Déu Barcelona Spain

  3. University Hospital Zurich

    Affiliation as printed

    Department of Neonatology University Hospital Zurich Zurich Switzerland

  4. Hospital Sant Joan de Déu Barcelona · Institut de Recerca Sant Joan de Déu

    Affiliation as printed

    Department of Genetics Hospital Sant Joan de Déu Barcelona Spain

    Institut de Recerca Sant Joan de Déu Barcelona Spain

  5. Hospital Clínic de Barcelona

    Affiliation as printed

    Department of Neonatology Hospital Clínic Barcelona, BCNatal (Barcelona Centre for Maternal, Fetal and Neonatal Medicine) Barcelona Spain

  6. Hospital Costa del Sol · Hospital Universitari Germans Trias i Pujol

    Affiliation as printed

    Department of Neonatology Hospital Universitario Costa del Sol Marbella Spain

    Department of Paediatrics Hospital Germans Trias i Pujol Badalona Spain

  7. Leiden University Medical Center · University Medical Center Utrecht

    Affiliation as printed

    Department of Neonatology University Medical Center Utrecht Utrecht the Netherlands

    Department of Pediatrics, Division of Neonatology Leiden University Medical Center Leiden the Netherlands

  8. ZNA Middelheim Hospital

    Affiliation as printed

    Department of Neonatology Brussels Belgium

    Department of Neonatology ZNA Middelheim Antwerp Belgium

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References 135