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)



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.


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.


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.


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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