WAGR SYNDROME AND PREGNANCY ULTRASOUND PRENATAL DIAGNOSIS CASE REPORT

Problem statement

The clinical association of Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a rare genetic disorder characterized by a de novo deletion of the distal band of 11p13 along with deletion in several neighboring gene regions, containing genes PAX6 (paired box) and WT1 (Wilms` tumor) gene, and can also be inherited in an autosomal dominant manner with prevalence 1 in 500,000 to 1 million.

WAGR syndrome is characterized mostly by brain and heart malformations, aniridia, genitourinary disorders, and mental retardation.

Antenatal ultrasonographic presentation with extremity issues of this syndrome has never been reported. Only one case prenatally detected was reported with brain and renal malformations.

Methods

We report a case of WAGR syndrome diagnosed prenatally at 32 weeks of gestation based on ultrasound imaging, genetic examination, and autopsy findings. The ultrasonographic findings included besides the short all long bones, borderline brachycephaly, flat nose, disproportion in all ultrasound ratio measurements, increased nuchal fold, hypertrophic cardiomyopathy, and Blake`s pouch cysts were also suspected. These findings mandate a search for potentially associated genetic disorders.

Results

Molecular karyotyping confirmed deletion of 11p15.1p12 including region of 11p13. The deletion was also confirmed with FISH analysis.

After extensive counseling, the couple opted to terminate the pregnancy.

Autopsy findings confirmed aniridia, short all long bones, hypertrophic cardiomyopathy, and macroglossia.

Conclusion

The present case demonstrates for the first time that WAGR syndrome could be manifested by fetal ultrasound bone abnormalities besides all classical malformations. Given the availability and extensiveness of non-invasive testing, in our case, it could be sufficient to confirm the prenatal diagnosis.