An expectant mother learned her foetus had an extremely rare and life-threatening congenital anomaly, but a carefully executed procedure helped ensure a good outcome, reports MedPage Today.
After a local clinic identified a tumour around the face of a roughly 23-week-old foetus, the mother was referred to a larger medical clinic where ultrasonography confirmed a 4cm mass protruding from the oral cavity to the outside.
An MRI suggested that the tumour originated from the pharynx or palate, resulting in a diagnosis of epignathus, a germline tumour that occurs in one of 35 000 to 200 000 deliveries, reported Riku Suzui, MD, an ob/gyn at the Hyogo Prefectural Amagasaki General Medical Centre in Japan, and co-authors in BMJ Case Reports.
After the baby was delivered and underwent tumour resection, pathological findings revealed nerves, intestinal tract, adrenal glands, skin, long bones, teeth and other tissues, meeting criteria for foetus-in-foetu, a foetus-like mass connected to a part of a normal foetus, Suzui and team wrote.
One theory for how these tumours occur is that a malformed twin develops within a normal infant, known as the parasitic twin theory, Julianne Lauring, MD, of Weill Cornell Medicine in New York, told MedPage Today.
Case details
The tumour caused polyhydramnios and gastric shrinkage, which suggested impaired swallowing and potential airway obstruction. The mother was admitted to the hospital at 30 weeks of gestation due to the risk for preterm labour and premature rupture of membranes.
At 33 weeks of gestation, the tumour reached a diameter of 14cm.
Managing neonatal respiratory distress was important, Suzui and team noted, so they decided on a specialised delivery method known as ex utero intrapartum treatment (EXIT), which could allow the baby to be delivered via Caesarean section while an airway is established before the baby is separated from the placenta.
Although they wanted the foetus to have time to develop its lungs before delivery (around 34 weeks), they also wanted to avoid the mother going into natural labour, said Lauring, who has performed the EXIT procedure.
During the procedure at 34 weeks and five days of gestation, Suzui and team said they were careful to secure a sufficient amount of amniotic fluid to prevent uterine contractions, placental abruption, and umbilical cord compression.
The baby must be kept stable and warm during the procedure, so the medical team used a cardiopulmonary bypass machine to infuse normal saline warmed to 38°C to prevent foetal heat loss.
After a tracheal tube was firmly fixed, the baby was admitted to the neonatal intensive care unit.
The infant underwent two surgeries on days 16 and 48 to resect the tumour and after testing oral feeding, was discharged 96 days post-natally.
Because amniotic fluid had been seen in the pharynx on MRI images, indicating a clear airway, it may have been possible to secure the airway after a normal Caesarean without the EXIT procedure, the authors acknowledged.
“However, there is a risk of difficulty in trying to secure the airway after the umbilical cord has been cut”, they noted, citing a reported death due to difficulty in performing tracheostomy after C-section without EXIT.
“The case highlights the need to re-evaluate EXIT indications based on dynamic prenatal findings, including amniotic fluid pockets in the pharynx and tumour configuration,” the authors concluded.
Lauring said that one of the most critical lessons from her own EXIT procedure was the importance of planning and teamwork. She estimated there were roughly 45 people in the operating room during her patient’s procedure.
The baby in this case study will probably need some rehabilitation to learn to swallow and may need help with other skills, but the condition typically does not affect a child neurologically, Lauring said. “In the long term, this child should do well.”
Study details
Foetus-in-foetu arising from the palate treated with ex-utero intrapartum treatment
Hiroshi Sato, Makiko Ikeda and Kazuyo Kakui.
Published in BMJ Case Reports Volume 19 Issue 8
Abstract
Epignathus, a teratoma arising from the palate or pharynx, is extremely rare and palatal foetus-in-foetu represents an even rarer anomaly. We report a prenatally diagnosed palatal foetus-in-foetu successfully managed with ex utero intrapartum treatment (EXIT). A 4 cm oral mass detected at 23 weeks caused polyhydramnios and gastric shrinkage, suggesting impaired swallowing and potential airway obstruction. Multidisciplinary evaluation determined the need for EXIT to secure the airway under placental circulation. At 34+5 weeks of gestation, Caesarean delivery with EXIT was performed; a 14 cm tumour was delivered and tracheostomy followed by staged resection was undertaken. Histopathology revealed multiple differentiated tissues – including nerve, gastrointestinal tract, adrenal gland, skin, bone and teeth – meeting Spencer’s criteria for foetus-in-foetu. The infant recovered well and was discharged 96 days post-natally. EXIT proved invaluable for airway management in high-risk epignathus, and foetus-in-foetu differs from teratoma by its lower malignant potential, emphasising individualised prenatal planning and team collaboration.
MedPage Today article – This Foetus Had a Parasitic Twin in an Unusual Location (Open access)
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