Prenatal Diagnosis of WAGR Syndrome
Case Presentation
We report a case of 30-year-old fit and well Asian (Indian ethnicity) woman in her second pregnancy, with a BMI of 26. The couple were nonconsanguineous.
In the current pregnancy, her 11–14 weeks' scan revealed no major structural abnormalities in the fetus and the risk for Down syndrome was low (1?:?50000) on combined screening. A routine anomaly scan at 20 weeks was also reported as normal. She was diagnosed with gestational diabetes at 16 weeks that was diet controlled and was offered serial growth scans from 28 weeks. A growth scan at 29 weeks showed reduced growth, and in view of this the woman was referred to the Fetal Medicine Unit. Scan performed by the fetal medicine specialist showed borderline bilateral ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. The amniotic fluid volume was mildly reduced. All the other systems appeared normal. The couple were counselled regarding the possibility of genetic or chromosomal causes, and they opted for an amniocentesis. A fetal MRI was also organised for further assessment of the brain. Microarray result indicated a copy number loss for the short arm of chromosome 11 with break points between 11p12 and 11p14.1. Deletion of this region indicates WAGR 11p13 deletion syndrome....

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641202/
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