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Child's Nervous System

, Volume 32, Issue 5, pp 801–809 | Cite as

Holoprosencephaly: antenatal and postnatal diagnosis and outcome

  • Chandrasekaran Kaliaperumal
  • Sam Ndoro
  • Tafadzwa Mandiwanza
  • F. Reidy
  • F. McAuliffe
  • John Caird
  • Darach Crimmins
Original Paper

Abstract

Objectives

The objectives of this study are to ascertain the clinical outcome and overall survival of holoprosencephaly (HPE) patients diagnosed antenatally and postnatally, to determine the accuracy of antenatal diagnosis and to determine the role of neurosurgical intervention in HPE.

Design

This is a retrospective review over a 10-year period.

Patients

Sixty-three patients were included in the study, 45 were diagnosed by antenatal radiological imaging and 18 were diagnosed by postnatal radiological imaging. Patient data was drawn from Temple Street Children’s University Hospital (the national paediatric neurosurgery centre), the National Maternity Hospital in Holle’s Street, Dublin, and Our Lady of Sick Children Hospital, Dublin.

Methods

The study was carried out through a review of antenatal and postnatal radiological imaging and reports, clinical charts, GP letters from patient follow-up and telephone conversations with parents of HPE patients.

Results

Four patients in the antenatal diagnosis group had follow-up foetal MRI confirming HPE. Twelve in this group had radiological follow-up postnatally, and in five of these, HPE was confirmed. The remaining seven were identified as false positive. Alobar HPE constituted 55 % (21/38) of patients with 95 % mortality. Fifty-one percent had a normal karyotype. The overall survival in the antenatal diagnosis group was 13 %.

In the postnatal group, 18 patients were identified, 67 % (12/18) lobar and 33 % (6/18) semilobar. Normal karyotype was found in 72 % (13/18), with an overall survival rate of 56 % (10/18). Neurosurgical intervention in both groups mainly consisted of CSF diversion in the form of ventriculoperitoneal (VP) or cystoperitoneal shunt (CP) (13/67).

Conclusion

Foetal MRI should be routinely performed in suspected cases of HPE, and reliance on ultrasound alone in the antenatal period may not be sufficient. In our study, there is a high early mortality noted in severe cases of HPE, while milder forms of HPE in children tend to survive beyond infancy albeit with associated complications that required neurosurgical intervention and medical management for other associated systemic anomalies.

Keywords

Holoprosencephaly Magnetic resonance imaging Antenatal Postnatal 

Notes

Acknowledgments

We are very grateful to the Department of Radiology CUH, Dublin; Crumlin CH; and National Maternity Hospital in Holle’s Street. We also would like to thank Dr Barry Kennerk, Medical Secretary, Neurosurgery Dept, CUH

Compliance with ethical standards

Disclosures

The following abstract was presented at the SBNS Spring meeting in Sheffield in 2013 and also at the JOGS Four Institute meeting in Dublin in November, 2014.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Chandrasekaran Kaliaperumal
    • 1
  • Sam Ndoro
    • 1
  • Tafadzwa Mandiwanza
    • 1
  • F. Reidy
    • 2
    • 3
  • F. McAuliffe
    • 2
    • 3
  • John Caird
    • 1
  • Darach Crimmins
    • 1
  1. 1.Department of NeurosurgeryTemple St. Children’s University HospitalDublinIreland
  2. 2.Department of Obstetrics and GynaecologyNational Maternity HospitalDublinIreland
  3. 3.Department of Obstetrics and Gynaecology, School of Medicine and Medical ScienceUniversity College DublinDublinIreland

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