PTSLPNarrative ReviewDevelopmental medicine and child neurology2025

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

Ana Alarcón, Nuria Carreras, Tobias Muehlbacher and 6 others

PMID 40653787

WHAT IT FOUND

Cranial ultrasound patterns can help separate foetal brain injury causes, such as haemorrhage, stroke, infection, genetic or metabolic disease.

Recognising the pattern guides cause testing and counselling, not treatment efficacy.

Key findings

01Foetal intracranial haemorrhage is often diagnosed after onset, so ultrasound may show late clues such as clot remnants, ventriculomegaly with irregular borders, or porencephaly.

02Large or multiloculated caudothalamic pseudocysts, temporal cysts, and occipital horn septations should prompt investigation for underlying disease, particularly CMV and metabolic testing.

03COL4A1 and COL4A2 variants can cause congenital porencephaly, schizencephaly, or hydranencephaly, but genetic testing yield is low and is mainly useful in selected syndromic, familial, or recurrent cases.

STILL TO COME

How it was doneWhat they foundWhat it means for PTsWhat it means for SLPs

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What it does not show

This is a narrative review, not a systematic review, meta-analysis, or treatment trial. The review does not report a systematic search, so the balance of evidence behind each statement is not shown. A plausible cause is identified in only a minority of foetal intracranial haemorrhage cases. The paper describes imaging patterns and possible causes, but it does not show that therapy decisions based on those patterns improve function. Most outcome statements are about diagnosis, mortality, shunt need, or neurological impairment, not about rehabilitation dose or technique.

Declared interests

The authors stated they had no interests that might pose a conflict or bias.

The easy way to misread this

Do not read the described ultrasound patterns as a definitive diagnosis or as evidence that a therapy will change outcomes. The paper reviews possible mechanisms and imaging clues; many causes are not identified, and it reports no treatment trial.

Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →