Qi Zhang1, Kristopher Langdon1, Chris Dunham2, Lee Cyn Ang1
1Department of Pathology, Western University, London, Ontario
2Children's and Women's Health Centre of B.C, Vancouver, British Columbia
This is a stillborn male fetus of gestational age 24 weeks. The mother is a 31-year-old primipara female with history of celiac disease. She is chronically anemic, and carries a beta thalassemia trait. The parental past medical history is otherwise unremarkable. Her infectious disease screen was negative.
An ultrasound performed on gestational age 23 weeks reported abnormal intracranial structures, including absence of the septum pellucidum with fused thalami. The cerebellum is smaller than average. A preterm induction for termination was performed. An autopsy was requested.
- Cytogenetics (skin): Normal male result; no clinically relevant genomic deletions, duplications, or large regions of homozygosity detected by microarray analysis
- Cord blood sample showed findings consistent with normal diploid complement of chromosomes 13, 18 and 21 in a male fetus
Questions: 2 diagnoses?