Perinatal death, of a fetus or newborn, is a devastating event for families. Following nationwide multicentre recruitment, we assessed 'genomic autopsy' as an adjunct to standard autopsy for 200 families who experienced perinatal death, and provided a de nite or candidate genetic diagnosis in 105 families. From this understudied cohort, half of the (candidate) diagnoses were phenotype expansions or novel disease genes, revealing previously unknown in-utero presentations of existing developmental disorders, and genomic disorders that are likely incompatible with life. Among the de nite diagnoses, 43% were recessively or dominantly inherited, posing a 25% or 50% recurrence risk for future pregnancies. Ten families used their diagnosis for preimplantation or prenatal diagnosis of 12 pregnancies, facilitating the delivery of ten healthy newborns and management of two affected pregnancies. We emphasize the clinical importance of genomic investigations of perinatal death, with short turn-around times, enabling accurate counselling and options for families to prevent recurrence.
Primitive myxoid mesenchymal tumor of infancy is a rare subtype of sarcoma. With the advent of relevant immunohistochemical and genetic analysis, it was defined by Alaggio et al. in a 2006 case series. Since then, 25 further cases are described in the literature—arising variably from the neck, chest, scalp, abdomen, back, or limbs. Here it is described for the first time arising in the orbit, confirmed by identification of BCOR immunopositivity with internal tandem duplication. All specialties involved in the management of orbital masses should be aware of the subtypes of sarcomas found in the orbit as approaches to their management may change depending on the diagnosis. As more cases are identified, a better understanding of this tumor’s clinical behavior and appropriate management can be established.
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