Progression of an untreated pseudotumor

I. Soto treated the patient and wrote the manuscript. A. Bernardo treated the patient and contributed substantially to the manuscript. T. Arias treated the patient, performed bibliographical research and read the manuscript critically. C. Ramón treated the patient and read the manuscript critically. I. Noval performed image analysis procedures to monitor the patient. C. Palomo contributed as an internist to the knowledge of the autoimmune disease underlying the pathological process, contributed substantially to the manuscript and read the manuscript critically.


Progression of an untreated pseudotumor
The patient was a fifty-two-year-old male who was diagnosed with factor IX deficiency at the age of two. He developed an abdominal pseudotumour in this twenties. Surgery was considered but not performed for fear of operative complications. Over a five-year period beginning at age 47 years, the pseudotumour rapidly increased in size. The pseudotumour reached a final volume of 21 litres, roughly equivalent in volume and dimensions to a 5 gallon (U.S.) carboy of water. No antibodies to factor IX were detected upon repeated testing. By the end of the fifth year, the patient was suffering from a multitude of compressive complications secondary to the pseudotumour. Figure 1 shows the three-dimensional image reconstruction of the mature pseudotumour. Figure 2 shows the tumour's growth over the five-year preoperative period. To produce these images, semi-automated segmentation and rendering were performed on two systems:

AUTHOR CONTRIBUTIONS
MI reviewed the patient's clinical data, wrote the manuscript and analysed radiographic data; PC originated the study, reviewed the manuscript and radiographic data; DW analysed the radiographic data. Although recommended in international guidelines, 1 there are few publications concerning late amniocentesis in haemophilia carriers. 2 The option of late AC is desirable as early CVS/AC is associated with a risk of miscarriage of 0.5%-1.0%. 3,4 While the mode of birth for infants with known risk of haemophilia remains controversial, there is consensus in guidelines and among obstetricians worldwide that invasive procedures such as foetal blood sampling and electrodes, mid-cavity forceps and vacuum extraction should be avoided in affected foetuses to minimize the risk of bleeding, especially intracranial haemorrhage. 1,5 In cases with known risk of haemophilia in the offspring, the standard procedure is to offer parents counselling on the choice between vaginal birth and planned caesarean section (CS). Determination of gender is performed by ultrasound. Without prenatal diagnosis, this approach leads to unnecessary planned CS, or in case of vaginal birth excessive restrictions in the birth plan and even the risk of unnecessary emergency CS, as a male foetus has a 50% chance of being unaffected.
We here report on the results regarding management of delivery in 14 pregnancies during a 5-year period where late amniocentesis was performed. A similar approach has been published from Guy's and St.
Thomas' Foundation Trust and in London. 2 Our results underline the usefulness of foetal genotype determination in delivery management. In her third pregnancy, she was referred to genetic counselling and late AC was performed. In all the pregnancies, the AC was performed around gestational week 36 because the risk of adverse outcomes at this gestational age is extremely low, and most likely the result is obtained before spontaneous delivery. No prohaemostatic treatment was given, and no adverse events related to the procedure occurred.

| CASE SERIES
Fourteen pregnancies in ten women were eligible for inclusion in the study. Two girls were tested and found not to be carriers, five boys were found to be affected with haemophilia and seven boys were not affected. In all cases, the results from the amniocentesis were known prior to delivery, providing time to plan the optimal mode of delivery for each couple. Of the seven non-affected boys, two of them would in all probability have been delivered by an unnecessary emergency CS, had it not been for the performed late amniocentesis and the hereby known genetic status of the foetus. Patient E and patient F in our series both needed continuous monitoring of the foetus with scalp electrode and ST waveform analysis (STAN) together with foetal blood sampling as regular cardiotocography (CTG) was not sufficient. These procedures would not have been advisable, had the genotype of the foetus been unknown prior to delivery. Therefore, delivery would most likely have been by emergency CS. Three of five foetuses with predicted haemophilia were delivered by CS (60%). One of nine foetuses