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.
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) can cause not only respiratory symptoms but also gastrointestinal symptoms. In addition, there is increased concern about the autoimmune complications of coronavirus disease 2019 . This report describes a 21-year-old non-smoking Caucasian male with a history of acute pancreatitis but no other medical issues or family history who developed a new onset of ulcerative colitis after the second episode of COVID-19. He had three doses of the BNT162b2 mRNA COVID-19 vaccine. Two months after the first episode of COVID-19, he had the third dose of the vaccine. Nine months after the third dose, he had the second episode of COVID-19, during which he was mildly unwell for three days, recovered, and did not require any anti-viral medication or antibiotics. One week post the second episode of COVID-19, he developed diarrhoea and abdominal pain. It then progressed to bloody diarrhea. We diagnosed ulcerative colitis based on his clinical symptoms, biopsy changes, and the exclusion of other causes. This case raises awareness of developing ulcerative colitis concurrently with or following COVID-19. It is essential to thoroughly investigate COVID-19 patients who have diarrhea or bloody diarrhea and not consider it a common gastroenteritis or a simple gastrointestinal manifestation of COVID-19. Although we cannot confirm the association with a case study, further research is needed to confirm the causal or incidental relationship and observe any increased incidence of ulcerative colitis in the future as secondary to COVID-19.
staging imaging, and the patient was started on treatment with pembrolizumab. A review of the existing literature showed approximately 45 case reports to date, with the first in 1901. Treatment approaches have been varied, with surgery as a mainstay, either alone or with adjuvant chemotherapy or immunotherapy. Prognosis is generally accepted to be poor. Characterisation of molecular features has been limited. Given the rarity of this entity, there is no consensus for standard therapy, and evidence to date is largely anecdotal.
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