Ultrasound Int Open 2016; 02(02): E54-E57
DOI: 10.1055/s-0036-1582303
Technical Development
© Georg Thieme Verlag KG Stuttgart · New York

Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology

R. Achiron
1   Obstetrics and Gynecology, Sheba Medical Center Tel-Hashomer, Tel-Aviv, Ramat Gan, Israel
,
E. Katorza
2   Obstetrics and Gynecology, Sheba Medical Center, Ramat Gan, Israel
,
H. Reznik-Wolf
3   Institute of Human Genetics, Sheba Medical Center, Ramat-Gan, Israel
,
E. Pras
3   Institute of Human Genetics, Sheba Medical Center, Ramat-Gan, Israel
,
D. Kidron
4   Institute of Pathology, Sheba Medical Center, Ramat-Gan, Israel
,
M. Berkenstadtt
2   Obstetrics and Gynecology, Sheba Medical Center, Ramat Gan, Israel
› Author Affiliations
Further Information

Publication History

received 11 June 2015

accepted 12 October 2015

Publication Date:
20 June 2016 (online)

Abstract

Background:

Walker-Warburg phenotype is a severe and lethal autosomal recessive disorder, belonging to a group of congenital malformations defined as abnormal pial basement membrane formation. So far, prenatal diagnosis was considered possible only during late pregnancy.

Methods:

First trimester assessment of a pregnancy suspected to be affected by Walker-Warburg phenotype, using a high-resolution transvaginal ultrasound probe (6–12 MHz), T2 MR imaging (1.5T), molecular genetics and histopathology.

Results:

Very early diagnosis of the Walker-Warburg phenotype at 11 weeks of gestation proved possible by depicting the classic signs of this entity, confirmed by molecular genetics, post-abortion MR imaging and histopathology.

Conclusion:

Advancements in ultrasound equipment and technology, molecular genetics and histopathology have made very early detection of this syndrome possible, thus shedding new light on the natural history of this malformation.

 
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