Fetal Diagnosis and Therapy

Original Paper

Revisiting Acrania: Same Phenotype, Different Aetiologies

Gorgal R.a · Ramalho C.a · Brandão O.b · Matias A.a · Montenegro N.a

Author affiliations

aPrenatal Diagnosis Center, Department of Gynecology and Obstetrics, and bDepartment of Pathology, São João Hospital, Medicine Faculty, University of Porto, Porto, Portugal

Keywords: AcraniaAmniotic band syndromeAnencephalyAutopsyCytogeneticsFoetal ultrasoundGenetic counsellingPrenatal diagnosisTermination of pregnancy

Related Articles for ""
Fetal Diagn Ther 2011;29:166–170
https://doi.org/10.1159/000320735

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: April 19, 2010
Accepted: August 30, 2010
Published online: December 11, 2010
Issue release date: March 2011

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 1

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: https://www.karger.com/FDT

Abstract

Objective: To evaluate the contribution of prenatal and postmortem examinations in establishing the aetiology of acrania. Methods: Retrospective evaluation of 14 cases of acrania managed through elective termination of pregnancy. Results: The median maternal age was 30 years (range 18–40) and median gestational age at diagnosis was 13 weeks (range 12–15). One mother had epilepsy and was taking anticonvulsants and another had uncontrolled type II diabetes mellitus. Only 3 women were using folic acid at conception. Chromosomal abnormalities were detected in 3 of 8 cases analyzed. Unilateral anopthalmia, cervical rachischisis, midline facial and limb defects coexisted with acrania in 4 cases. Acrania with craniofacial dysmorphism and asymmetrical finger amputation were observed in a case of amniotic band syndrome. A previous history of anencephaly was documented in 1 case. Conclusion: Acrania is a characteristic phenotypic expression of a variety of different aetiologies. Investigation with cytogenetic studies and postmortem are essential to provide a definitive answer. This will provide a better understanding of the underlying aetiology and help establish the recurrence risk for future pregnancies.

© 2010 S. Karger AG, Basel

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: April 19, 2010
Accepted: August 30, 2010
Published online: December 11, 2010
Issue release date: March 2011

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 1

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: https://www.karger.com/FDT

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2011, Vol.29, No. 2

March 2011

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