Article Text

Holoprosencephaly – review of three cases
  1. SA Francis1,
  2. SJ Duthie2
  1. 1Blackpool Victoria Hospital, Blackpool, UK
  2. 2Birmingham Heartlands Hospital, Birmingham, UK


This is a review of three cases of holoprosencephaly (HPE) that were diagnosed at antenatal scan. The aim of this review is to highlight the possible causes of HPE and review the management provided for these women. Teratogens, genetic causes and diabetes are only some of the associations or risk factors that are described in the literature.

One of the women booked for antenatal care at Birmingham Heartlands Hospital while the remaining two booked at the Blackpool Victoria Hospital.

In the first case, HPE was diagnosed in a previous pregnancy for which she required a termination. Genetic studies revealed chromosomal translocation in her partner establishing genetic or chromosomal factors as a cause. The second case was most likely sporadic which from literature reports can have recurrent rates as high as 6%. In the third case, the woman was in a consanguineous marriage and had a history of poorly controlled diabetes. She was also on statins to control her hypercholesterolaemia. There has been some reports of adverse birth outcomes following statins exposure namely HPE.

HPE is uncommon with an incidence of 1:10 000 to 16 000. Recurrence is higher in sporadic cases and if there is chromosomal translocation. Diabetes significantly increases the risk for HPE and therefore should be excluded and it is essential that good glycaemic control should be achieved prenatally.

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.