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An abnormal finding in the third trimester


A healthy woman presented with an antepartum haemorrhage at 35/40 during a low-risk pregnancy with normal antenatal bloods and anomaly scan at 20/40 gestation. Following an abnormal ultrasound (USS), the baby was delivered by emergency C-section.

A male infant was born in good condition but admitted to the neonatal unit for monitoring. Examination revealed global hypotonia, a weak uncoordinated suck and absent Moro reflex. He had widened sagittal sutures and a large posterior fontanelle. The remainder of the examination was unremarkable. Abnormal bloods are shown in table 1 .

Table 1

Initial newborn blood results

He was treated for suspected sepsis due to jaundice and temperature instability.

Cranial USS was performed immediately ( figure 1 ). Urgent MRI of the brain further characterised these abnormalities ( figures 2–3 ).

Figure 1

Coronal section of cranial ultrasound obtained on day 1 of life.

Figure 2

Coronal section from MRI performed on day 1 of life.

Figure 3

Sagittal section from MRI performed on day 1 of life.


  1. What are the causes for the abnormalities seen in figures 1–3 ?

  2. What investigations should be considered?

  3. What is the diagnosis?

  4. How do we manage this condition?

  5. What are the likely outcomes?

Questions Answers can be found on page 2

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