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Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.

Background. There is still no standardized treatment for vaginal agenesis; surgical repair using a minimally invasive technique is a good option, as it offers rapid results along with a fast postoperative recovery. Objective. To describe a new modified Vecchietti procedure by a mini-laparoscopic approach with intraoperative use of indocyanine green fluorescence technology for the creation of a neovagina in the setting of congenital vaginal agenesis. Methods. Retrospective review of all cases of congenital vaginal agenesis submitted to a mini-laparoscopic modified Vecchietti procedure with intraoperative use of indocyanine green (ICG) fluorescence (between June and September 2019). Patient relevant medical history, surgical technique, postoperative care, outcomes, and complications are described. Results. Four patients with Mayer–Rokitansky–Küster–Hauser syndrome (mean age: 19 years; mean preoperative vaginal length: 1.5 cm) were included in the study. The procedure was completed successfully and uneventfully in all patients. External traction device was removed 5–7 days after surgery and replaced by external vaginal silicone dilators. This technique was able to create 10–11 cm neovaginas in 1 week; six weeks after surgery all patients had an epithelized 10.5–12 cm length and 2.5–3 cm diameter neovagina. Complications consisted of one case of isolated fever at the ninth postoperative day, solved with empiric antibiotic treatment. Conclusion. The mini-laparoscopic modified Vecchietti approach, associated with ICG fluorescence imaging, is feasible and effective in the treatment of congenital vaginal agenesis, as it is a simple and safe procedure with promising outcomes.

Triploidy is currently understood as a sporadic genetic disorder, with no recognisable risk of recurrence nor identifiable risk factors. In cases of triploidy, chances of thriving through the second trimester of fetal development are very slim, with most of these pregnancies ending as early miscarriage. We report a case of repeated triploid pregnancies in the same woman, from different fathers, achieving the second trimester of pregnancy; elective termination was decided in both cases, after an amniocentesis revealing a triploid karyotype. Both triploid pregnancies are described and compared; prenatal laboratorial markers, sonographic features, clinical course and pathological findings are analysed and matched with fetal autopsy and placental pathological study. Reported findings strongly point to recurrent triploidy of maternal origin, and so the possibility of a genetic predisposition should be considered. Investigation is required to assess the presence of an underlying genetic mechanism in this setting, thus enabling a better genetic/obstetric counselling.

The disease course of cancer presents several physical manifestations, such as fatigue, nausea, vomiting or anorexia. However, the most feared symptom, with the greatest impact on quality of life is, undoubtedly, pain. Thus, pain relief is of paramount importance in any stage of the disease [van den Beuken-van Everdingen MH, de Rijke JM, Kessels AG, Schouten HC, van Kleef M, Patijn J. Ann Oncol Off J Eur Soc Med Oncol/ESMO 18:1437–1449, 2007].

Cancer causes several physical manifestations, such as fatigue, nausea, vomiting or anorexia, but the most feared symptom is, undoubtedly, pain. It has the greatest impact on quality of life and, thus pain relief is of paramount importance. Pain may be present in any stage of the disease. It has been estimated that 33 % of patients who have completed curative treatment, 59 % of patients receiving treatment and 64 % of patients in an advanced metastatic stage experience pain, with no significant differences between the last two groups (van den Beuken-van Everdingen MH, de Rijke JM, Kessels AG, Schouten HC, van Kleef M, Patijn J, Ann Oncol 18:1437–1449, 2007).