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1.  Fetus in fetu: two case reports and literature review 
BMC Pediatrics  2014;14:88.
Background
Fetus in fetu is a rare congenital anomaly and is defined as a monozygotic twin incorporated into the abdomen of its sibling during development. Fetus in fetu is often overlooked in the differential diagnosis of an abdominal mass. Unlike teratomas, fetus in fetu is a benign disorder.
Case presentation
We describe the clinical characteristics of two patients, a thirty-months old boy who was found to have abdominal distension and a neonate who was diagnosed antenatally with abdominal mass. Computed tomography scan revealed the mass in which the contents favor a fetus in fetu rather than a teratoma. Surgical removal revealed that the anencephalic fetus have limb buds situated relative to a palpable vertebral column, supporting the diagnosis of fetus in fetu. In the present report, presentation, diagnosis, pathology, management, and recent literature are also reviewed.
Conclusion
Fetus in fetu is a rare entity that typically presents in infancy and early childhood. It should be differentiated from a teratoma because of the teratoma’s malignant potential. Preoperative diagnosis is based on radiologic findings. The treatment of fetus in fetu is operative to relieve obstruction, prevent further compression and possible complications. Complete excision allows confirmation of the diagnosis and lowers the risk of recurrence.
doi:10.1186/1471-2431-14-88
PMCID: PMC3996905  PMID: 24693883
Fetus in fetu; Teratoma; Preoperative diagnosis; Treatment
2.  Fetus-in-fetu: a pediatric rarity 
Journal of Surgical Case Reports  2014;2014(2):rju001.
Fetus-in-fetu (FIF) is a rare entity resulting from abnormal embryogenesis in diamniotic monochorionic twins, being first described by Johann Friedrich Meckel (1800s). This occurs when a vertebrate fetus is enclosed in a normally growing fetus. Clinical manifestations vary. Detection is most often in infancy, the oldest reported age being 47. We report the case of a 4-day-old girl who was referred postnatally following a prenatal fetal scan which had revealed the presence of a multi-loculated retroperitoneal mass lesion with calcifications within. A provisional radiological diagnosis of FIF was made. Elective laparotomy revealed a well encapsulated retroperitoneal mass containing among other structures a skull vault and rudimentary limb buds. Recovery was uneventful. Here we discuss the difference between FIF and teratomas, risks of non-operative therapy and the role of serology in surveillance and detection of malignant change.
doi:10.1093/jscr/rju001
PMCID: PMC4164195  PMID: 24876368
3.  Twin fetus in fetu in a child: a case report and review of the literature 
Introduction
Fetus in fetu is an extremely rare condition wherein a malformed fetus is found in the abdomen of its twin. This entity is differentiated from teratoma by its embryological origin, its unusual location in the retroperitoneal space, and the presence of vertebral organization with limb buds and well-developed organ systems. The literature cites less than 100 cases worldwide of twin fetus in fetu.
Case presentation
A two-and-a-half-month-old Asian Indian baby boy had two malformed fetuses in his abdomen. The pre-operative diagnosis was made by performing an ultrasound and a 64-slice computer tomography scan of the baby's abdomen. Two fetoid-like masses were successfully excised from the retroperitoneal area of his abdomen. A macroscopic examination, an X-ray of the specimen after operation, and the histological features observed were suggestive of twin fetus in fetu.
Conclusion
Fetus in fetu is an extremely rare condition. Before any operation is carried out on a patient, imaging studies should first be conducted to differentiate this condition from teratoma. Surgical excision is a curative procedure, and a macroscopic examination of the sac should be done after twin or multiple fetus in fetu are excised.
doi:10.1186/1752-1947-4-96
PMCID: PMC2852393  PMID: 20338036
4.  Fetus in fetu: a case report 
Introduction
Fetus in fetu is a rare abnormality secondary to the abnormal embryogenesis in a diamniotic, monochorionic pregnancy. It is a rare pathological condition and fewer than 100 cases have been reported in the literature.
Case presentation
A 2 month old girl with an abdominal mass since birth, was referred to the Cancer Institute with a suspected diagnosis of a Wilms' tumor. Conventional radiograph of the abdomen revealed a mass containing numerous calcifications. CT scan showed a heterogeneous retroperitoneal mass containing well-defined calcified structures. The decision was made to recommend surgical exploration and the mass was successfully excised. Physical examination of the mass with review of literature confirmed the diagnosis of fetus in fetu.
Conclusion
Although it is a rare condition imaging may play an important role in the correct prospective diagnosis of fetus in fetu. Surgical excision is the recommended treatment.
doi:10.1186/1752-1947-2-2
PMCID: PMC2253549  PMID: 18186928
5.  Fetus in fetu: A rare case report 
Background:
Fetus in fetu is a rare congenital anomaly in which malformed fetus grows within the body of its twin. It is almost always detected as an abdominal mass in infancy. It is a parasitic twin of a diamniotic, monozygotic twin. It should be differentiated from teratoma which has no axial arrangement and has got definite malignant potential. Herein, we present a case of a two-month old female infant and review the literature. Although fetus in fetu is a rare condition, correct diagnosis using imaging can be made before surgery. It should be considered as a differential diagnosis for lump abdomen especially in infants. Complete excision is curative.
PMCID: PMC3634279  PMID: 23626618
Fetus in Fetu; Teratoma; Twin
6.  Transient early preeclampsia in twin pregnancy with a triploid fetus: a case report 
Introduction
Triploid pregnancies have an increased risk of early preeclampsia. Twin pregnancies consisting of one healthy fetus and one complete or partial molar, with or without a triploid fetus, are rare and management is complex.
Case presentation
A 33-year-old Caucasian woman presented with a dichorionic diamniotic twin pregnancy. One fetus showed early growth restriction resulting in fetal death at 20 weeks. The placenta was enlarged with some cysts. Chorionic villus biopsy confirmed triploidy. At 21 weeks, the patient developed preeclampsia with a blood pressure of 154/98 mmHg and proteinuria (24 hour protein excretion of 2.5 g/L), for which she was hospitalized. Without pharmacological interventions, the blood pressure normalized and proteinuria disappeared. At 35 weeks, she again developed preeclampsia. A cesarean section was performed at 38 weeks and a healthy child was born.
Conclusions
Survival of the healthy fetus is possible in a twin pregnancy with a triploid fetus complicated by early preeclampsia. The pregnancy should not be terminated if the triploid twin has died and as long as conservative management is safe.
doi:10.1186/1752-1947-3-7311
PMCID: PMC2726512  PMID: 19830177
7.  Diagnostic dilemma in a neglected case of fetus-in-fetu solved with Magnetic Resonance Imaging and MDCT - a case report and review of literature 
Fetus-in-fetu (FIF) is a rare anomaly in which a vertebrate fetus is enclosed within the body of its twin in diamniotic monochorionic pregnancy. To the best of our knowledge, fewer than 100 cases have been reported in literature. Although a wide variety of presentations have been described in clinical reports, the characteristic features on MRI which distinguish FIF from teratoma have not been well delineated. Here we present a case of fetus-in-fetu in which characteristic MDCT and MR findings were used to diagnose FIF preoperatively and successfully differentiate it from teratoma. Although both CT and MRI can be used for definitive preoperative diagnosis of FIF, MRI is an ideal imaging modality due to inherent high tissue contrast and spatial resolution. Furthermore, MRI obviates the need for iodine contrast and eliminates the risk of ionizing radiation. We emphasize that MRI is an ideal valuable diagnostic tool for definite preoperative diagnosis of FIF and surgical planning.
doi:10.3941/jrcr.v5i10.833
PMCID: PMC3303465  PMID: 22470767
fetus-in-fetu; teratoma; axial skeleton; diamniotic monochorionic twins; parasitic twin; multidetector computed tomography; magnetic resonance imaging
8.  Prenatal diagnosis of pygopagus tetrapus parasitic twin: case report 
Background
Asymmetric and parasitic conjoined twins are rarer anomalies of monochorionic monoamniotic twins, consisting of an incomplete twin attached to the fully developed body of the co-twin.
Case presentation
A 30-year-old multigravid woman referred to maternal fetal unit due to polyhydramnios at 28th week of gestation. Sonographic examination revealed a single fetus and polyhydramnios with amniotic fluid index 30 cm. The fetus had normal apparent single head, spine, thorax, abdomen, two upper and two lower limbs, and two relatively well developed rudimentary parasitic lower limbs at sacral region. Lower limbs of the autosite were moving freelly but no movement was detected at the parasite. The parasite contained irregular lower limbs and left foot with three toes. Short and deformed long bones were also present in the parasitic limbs. A Cesarean section was performed at 38th week of gestation and a live female infant weighing 3600 g was delivered. The parasitic lower limbs were totally excised. Post-operative period was uneventful and the newborn was discharged as healthy. Post-natal follow-up was normal at nine-month-old.
Conclusion
Pygopagus tetrapus parasitic twin is a rare form of conjoined twins and in utero diagnosis with ultrasound assists in prenatal management and counselling with parents.
doi:10.1186/1471-2393-4-13
PMCID: PMC481071  PMID: 15251046
9.  Double fetus-in-fetu: CT scan diagnosis in an adult 
A fetus-in-fetu (FIF) is an uncommon developmental abnormality characterized by a reasonably well-formed but aborted fetus that is seen in the form of an encapsulated, pedunculated vertebrate tumor in the patient's abdomen. We report an interesting case of a double FIF in a 20-year-old man, who presented with acute abdominal pain and a lump. CT scan of the abdomen revealed two ill-formed fetuses-in-fetu, which were seen as a 15-cm complex, encapsulated mass in the lower retroperitoneum; there was also free fluid in the abdomen. The diagnosis of a ruptured twin FIF was made. Complete surgical excision of the lesion was performed and the diagnosis was confirmed histopathologically. To the best of our knowledge, the CT scan findings of a ruptured double FIF in an adult have not been previously documented.
doi:10.4103/0971-3026.54890
PMCID: PMC2766876  PMID: 19881090
Fetus-in-fetu; Computed Tomography
10.  Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for congenital cystic adenomatoid malformation of the lung 
Background
Spontaneous monochorionic triamniotic pregnancy is rare and is at increased risk for pregnancy complications. The presence of an anomalous fetus further complicates the management.
Case presentation
We present a case of monochorionic triamniotic triplet pregnancy diagnosed at 15 weeks of gestation with one fetus having developed a multicystic lung lesion, suggestive of congenital cystic adenomatoid malformation (CCAM). At 24 weeks, the largest cyst measured 10 mm in diameter. We managed the pregnancy conservatively and delivered three live male fetuses with birth weights 1560 g, 1580 g and 1590 g at 35 weeks of gestation. Two newborns were admitted to the neonatal intensive care unit with respiratory distress, the third one died due to sepsis 7 days postpartum. One of the newborns was discharged healthy at 24 days postpartum. The newborn with CCAM developed a pneumothorax on the right side, recovered after treatment, and was discharged after one month. Computerized tomography (CT) of the infant at 3 months demonstrated two cystic lesions in the middle lobe of the right lung measuring 25 mm and 15 mm. A repeat CT of the infant at 6 months showed a 30 mm solitary cystic mass.
Conclusion
Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for CCAM, present rarely and can be managed conservatively. These findings may help in decision making and counselling of parents.
doi:10.1186/1742-4755-2-2
PMCID: PMC1082912  PMID: 15819977
11.  Clonal Nature of Campylobacter fetus as Defined by Multilocus Sequence Typing 
Journal of Clinical Microbiology  2005;43(12):5888-5898.
Campylobacter fetus can be divided into the subspecies C. fetus subsp. fetus and C. fetus subsp. venerealis. C. fetus subsp. fetus causes sporadic infections in humans and abortion in cattle and sheep and has been isolated from a variety of sites in different hosts. C. fetus subsp. venerealis is host restricted, being isolated mainly from the genital tracts of cattle, and is the causative agent of bovine genital campylobacteriosis. Despite differences in niche preference, microbiological subspecies differentiation has proven difficult. Different typing methods divided C. fetus isolates into different subgroups, depending on the methods used. The relative value of these methods can be assessed by the evolutionary relationship of isolates belonging to the genus; therefore, we developed a multilocus sequence typing (MLST) scheme for C. fetus. This scheme was applied to 140 C. fetus isolates previously typed by amplified fragment length polymorphism (AFLP) analysis. A total of 14 different sequence types (STs) were identified, and these exhibited low levels of inter-ST genetic diversity, with only 22 variable sites in 3,312 nucleotides. These MLST data indicate that C. fetus is genetically homogeneous compared to the homogeneity of other Campylobacter species. The two C. fetus subspecies were extremely closely related genetically, but ST-4 was associated only with C. fetus subsp. venerealis, which represents a “bovine” clone. The C. fetus subsp. fetus isolates studied were more diverse in terms of their STs, and the STs correlated with epidemiological relationships. Congruence was observed among C. fetus subspecies, sap type, and ST; therefore, MLST confirms that mammalian C. fetus is genetically stable, probably as result of the introduction of a single ancestral clone into a mammalian niche.
doi:10.1128/JCM.43.12.5888-5898.2005
PMCID: PMC1317208  PMID: 16333072
12.  Fetus-in-Fetu: Mimicking as Teratoma on Antenatal Ultrasound 
The Indian Journal of Surgery  2012;75(Suppl 1):412-414.
Fetus-in-fetu is a rare and unusual condition. In this condition, a malformed parastitc fetal twin develops inside the body of another fetus, most commonly in the abdominal cavity. We present a case which was thought to be a teratoma on antenatal ultrasound. However, on subsequent postnatal imaging and surgery, it was proved to be fetus-in-fetu.
doi:10.1007/s12262-012-0745-8
PMCID: PMC3693345  PMID: 24426633
Fetus-in-fetu; Obstetrics; Teratoma; Ultrasound
13.  Placental Mesenchymal Dysplasia: A Case Report 
Introduction. A rare case of histologically proven placental mesenchymal dysplasia (PMD) with fetal omphalocele in a 22-year-old patient is reported. Material and Methods. Antenatal ultrasound of this patient showed hydropic placenta with a live fetus of 17 weeks period of gestation associated with omphalocele. Cordocentesis detected the diploid karyotype of the fetus. Patient, when prognosticated, choose to terminate the pregnancy in view of high incidence of fetal and placental anomalies. Subsequent histopathological examination of placenta established the diagnosis to be placental mesenchymal dysplasia. Conclusion. On clinical and ultrasonic grounds, suspicion of P.M.D. arises when hydropic placenta with a live fetus presents in second trimester of pregnancy. Cordocentesis can detect the diploid karyotype of the fetus in such cases. As this condition is prognostically better than triploid partial mole, continuation of pregnancy can sometimes be considered after through antenatal screening and patient counseling. However, a definite diagnosis of P.M.D. is made only on placental histology by absence of trophoblast hyperplasia and trophoblastic inclusions.
doi:10.1155/2012/202797
PMCID: PMC3420089  PMID: 22919524
14.  Fetus in fetu: a medical curiosity—considerations based upon an intracranially located case 
Child's Nervous System  2013;30(2):357-360.
Introduction
“Fetus in fetu” (FIF) is defined as the abnormal monozygotic twin inside the body of its “host twin.” Intracranial FIFs are extremely rare.
Case presentation
A male premature newborn was admitted to the hospital due to a large intracranial tumor diagnosed in the 31st week of gestation. The child died before surgical treatment because of failure of the respiratory system due to fetal respiratory distress syndrome. During general autopsy, a large intracranial tumor with four relatively well-developed limbs was found. Microscopically, apart from relatively well-formed musculoskeletal structures of limbs that were covered with skin, there were haphazardly distributed different tissues or fragments of organs. However, various neuroectodermal derivatives were dominant.
Conclusion
We believe that intracranial FIFs, theoretically with poor prognosis, can be successfully curable in cases revealed prenatally, provided that optimal treatment is introduced and the achievement of proper pulmonary maturity of the host is accomplished prior to the operation of the tumor.
doi:10.1007/s00381-013-2191-8
PMCID: PMC3907695  PMID: 23780404
Intracranial; Fetus in fetu; Teratoma; Tumor
15.  Fetal Intra-Abdominal Umbilical Vein Varix in Monochorionic Twins: Is it Significant? 
A 30-years-old Taiwanese female in her second pregnancy spontaneously conceived a monochorionic twin pregnancy. A routine ultrasound at 27 weeks of gestation revealed a selective intrauterine growth restriction (sIUGR) fetus and an appropriate gestational age (AGA) fetus. The AGA fetus was found to have a fetal intra-abdominal umbilical vein (FIUV) varix. Serial ultrasounds showed no changes in the FIUV varix. 2 weeks later, the pregnancy progressed to twin–twin transfusion syndrome (TTTS). Repeated amnioreductions were required at 29 and 30 weeks gestation. The babies were delivered by caesarean section at 31 weeks due to fetal distress in the sIUGR fetus. Both fetuses survived the neonatal period with problems of prematurity. The FIUV varix disappeared a few days after delivery.
PMCID: PMC3684235  PMID: 23785250
intra-abdominal; multiple pregnancies; ultrasound; umbilical vein; varix
16.  Misdiagnosis of fetus-in-fetu as meconium peritonitis 
Korean Journal of Pediatrics  2011;54(3):133-136.
Fetus-in-fetu (FIF) is a rare congenital condition in which a fetiform mass is detected in the host abdomen and also in other sites such as the intracranium, thorax, head, and neck. This condition has been rarely reported in the literature. Herein, we report the case of a fetus presenting with abdominal cystic mass and ascites and prenatally diagnosed as meconium pseudocyst. Explorative laparotomy revealed an irregular fetiform mass in the retroperitoneum within a fluid-filled cyst. The mass contained intestinal tract, liver, pancreas, and finger. Fetal abdominal cystic mass has been identified in a broad spectrum of diseases. However, as in our case, FIF is often overlooked during differential diagnosis. FIF should also be differentiated from other conditions associated with fetal abdominal masses.
doi:10.3345/kjp.2011.54.3.133
PMCID: PMC3121000  PMID: 21738544
Fetus in fetu; Meconium peritonitis; Misdiagnosis
17.  A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas 
Journal of Medicine and Life  2013;6(1):93-96.
The spondylocostal dysostosis (SCD) is one of the two major clinico-radiological subtypes of the Jarcho-Levin syndrome (JLS). The JLS is a rare heterogeneous entity characterized by facial dysmorphism, short-neck, short-trunk, normal sizes limbs, with multiple vertebral anomalies at all levels of the vertebral column and costal defects. The JLS has been classified into 2 major clinical phenotypes, based on the extent and distribution of skeletal anomalies, the pattern of inheritance and the prognosis. We report the case of a non-consanguineous 35-year-old female patient, with a history of multiple large leiomyomas gravida 1, para 1. A three-dimensional ultrasound at 18 weeks of gestation revealed: thoracic and lumbar hemivertebrae with abnormal alignment of the vertebral bodies and kypho-scoliosis, also the absence of two right ribs and abnormal shaped ribs. The biometric measurement was appropriate for gestational age and no other malformations were found. Although there was no previous history, based on the three-dimensional ultrasound findings a mild subtype of JLS was suspected. At term, the patient gave birth, by Cesarean section, to a male fetus, with a weight of 2700g, a length of 50cm and a calculated Apgar score of 9. The postpartum examination of the fetus confirmed the diagnose of SCD. The evolution of the newborn was good - he had no respiratory difficulty; he will benefit from an experimental surgery involving expandable titanium ribs. Our case illustrates the importance of an accurate ultrasound examination, which can be hindered by multiple large leyomiomas, in order to diagnose and to differentiate the two subtypes of JLS. The SCD can have a favorable evolution with the appropriate perinatal and postpartum care.
PMCID: PMC3624657  PMID: 23599829
spondylocostal dysostosis; Jarcho-Levin syndrome; hemivertebrae; ultrasound
18.  Successful management of unsuspected retroperitoneal paraganglioma via the use of combined epidural and general anesthesia: a case report 
Introduction
Similar to pheochromocytomas, paragangliomas can secrete catecholamines, although they are usually non-functional and clinical presentation is non-specific. We present a case of accidental, intra-operatively diagnosed neuroendocrine-active sympathetic paraganglioma, which was suspected and confirmed during elective retroperitoneal tumor removal.
Case presentation
A 25-year-old Caucasian Croatian man, American Society of Anesthesiologists status 1, underwent elective surgery for retroperitoneal tumor removal. The tumor had been discovered by chance during a routine examination and was suspected to be a sarcoma. Our patient had no history of previous medical conditions nor did he have symptoms characteristic of a neuroendocrine secreting tumor. The results of ultrasound and magnetic resonance imaging studies showed a large, well demarcated retroperitoneal tumor mass in his upper abdomen localized between the aorta and vena cava, measuring approximately 9×6×4.5cm. In the operating room an epidural catheter was inserted at the T7 to T8 level prior to induction of general anesthesia. Epidural analgesia was maintained by an infusion pump with local anesthetic and opiate mixture. During the surgical excision of the tumor, hemodynamic changes occurred, with hypertension (205/110mmHg) and tachycardia (up to 120 beats/minute). In spite of the fact that the surgical field of work did not include adrenal glands whose direct manipulation could explain this occurrence, there was a high degree of suspicion for the presence of a neurosecreting tumor. His clinical symptoms were relieved after administration of urapidil, esmolol and magnesium sulfate. After tumor excision, our patient developed severe hypotension. Hemodynamic stability was reinstated with aggressive volume replacement, with crystalloids and colloids, vasopressors and hydrocortisone. His post-operative course was unremarkable and on the eighth post-operative day our patient was discharged from hospital, with no consequences or symptoms on follow-up two years after surgery.
Conclusions
Our patient’s case emphasizes the need to consider the presence of extra-adrenal paragangliomas in the differential diagnosis of retroperitoneal tumors, despite their rare occurrence. In our patient’s case, invasive hemodynamic monitoring during combined general anesthesia and epidural analgesia and early recognition of catechol-induced symptoms raised suspicion of the existence of a paraganglioma, and this led to an adequate therapeutic approach and favorable outcome of the surgery. Pre-operative recognition of paragangliomas could lead to better pre-operative preparation, but even high clinical suspicion in undiagnosed forms during surgery and the availability of rapid and short-acting vasodilatators, α-blockers and β-blockers might favor good outcome.
doi:10.1186/1752-1947-7-58
PMCID: PMC3599738  PMID: 23448279
Epidural analgesia; Invasive hemodynamic monitoring; Paraganglioma/pheochromocytoma; Therapeutic protocols
19.  A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea – implications for management 
BMC Pediatrics  2013;13:70.
Background
Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery.
Case presentation
A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21+5 weeks’ gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks’ gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG.
Conclusion
This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women’s attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a fetus with severe congenital abnormalities may be required.
doi:10.1186/1471-2431-13-70
PMCID: PMC3653680  PMID: 23651554
Congenital abnormality; Eagle-Barrett syndrome; Management; Papua New Guinea; Prenatal diagnosis; Prune belly syndrome; Ultrasound
20.  Monoamniotic Monochorionic Twins Discordant for Noncompaction Cardiomyopathy 
Occasionally “identical twins” are phenotypically different, raising the question of zygosity and the issue of genetic versus environmental influences during development. We recently noted monochorionic-monoamniotic twins, one of which had an isolated cardiac abnormality, noncompaction cardiomyopathy, a condition characterized by cardiac ventricular hypertrabeculation. We examined the prenatal course and subsequent pathologic correlation since ventricular morphogenesis may depend on early muscular contraction and blood flow. The monochorionic-monoamniotic female twin pair was initially identified since one fetus presented with increased nuchal translucency. Complete heart block was later identified in the fetus with nuchal translucency who did not survive after delivery. In contrast, the unaffected twin had normal cardiac studies both prenatally and postnatally. Pathologic analysis of the affected twin demonstrated noncompaction of the left ventricle with dysplasia of the aortic and pulmonary valves. Dissection of the cardiac conduction system disclosed atrioventricular bundle fibrosis. Maternal lupus studies, amniocentesis with karyotype, and studies for 22q11.2 were normal. To test for zygosity, we performed multiple STR marker analysis and found that all markers were shared even using non-blood tissues from the affected twin. These studies demonstrate that monozygotic twins that are monochorionic monoamniotic can be discordant for cardiac noncompaction. The results suggest further investigation into the potential roles of pathologic fibrosis, contractility, and blood flow in cardiac ventricle development.
doi:10.1002/ajmg.a.35925
PMCID: PMC3664136  PMID: 23636980
Twins; noncompaction; heritability; cardiomyopathy; congenital heart; monozygotic; fibrosis
21.  Mycotic Abdominal Aneurysm Caused by Campylobacter Fetus: A Case Report for Surgical Management 
Annals of Vascular Diseases  2011;4(1):56-59.
We report a rare case of mycotic abdominal aortic aneurysm associated with Campylobacter fetus. A 72-year-old male admitted to the hospital because of pain in the right lower quadrant with pyrexia. The enhanced abdominal computed tomography (CT) examination showed abdominal aortic aneurysm (AAA) measuring 50 mm in maximum diameter and a high-density area of soft tissue density from the right lateral wall to the anterior wall of the aorta. However, since the patient showed no significant signs of defervescence after antibiotics administration, so we performed emergency surgery on the patient based on the diagnosis of impending rupture of mycotic AAA. The aneurysm was resected in situ reconstruction using a bifurcated albumin-coated knitted Dacron graft was performed. The cultures of blood and aneurysmal wall grew Campylobacter fetus, allowing early diagnosis and appropriate surgical management in this case, and the patient is making satisfactory progress. This is the fifth report of mycotic AAA characterizing culture positive for Campylobacter fetus in blood and tissue culture of the aortic aneurysm wall.
doi:10.3400/avd.cr.10.01028
PMCID: PMC3595778  PMID: 23555431
mycotic abdominal aneurysm; Campylobacter fetus; vascular surgery
22.  Genomic analysis of Campylobacter fetus subspecies: identification of candidate virulence determinants and diagnostic assay targets 
BMC Microbiology  2009;9:86.
Background
Campylobacter fetus subspecies venerealis is the causative agent of bovine genital campylobacteriosis, asymptomatic in bulls the disease is spread to female cattle causing extensive reproductive loss. The microbiological and molecular differentiation of C. fetus subsp. venerealis from C. fetus subsp. fetus is extremely difficult. This study describes the analysis of the available C. fetus subsp. venerealis AZUL-94 strain genome (~75–80%) to identify elements exclusively found in C. fetus subsp. venerealis strains as potential diagnostic targets and the characterisation of subspecies virulence genes.
Results
Eighty Kb of genomic sequence (22 contigs) was identified as unique to C. fetus subsp. venerealis AZUL-94 and consisted of type IV secretory pathway components, putative plasmid genes and hypothetical proteins. Of the 9 PCR assays developed to target C. fetus subsp. venerealis type IV secretion system genes, 4 of these were specific for C. fetus subsp. venerealis biovar venerealis and did not detect C. fetus subsp. venerealis biovar intermedius. Two assays were specific for C. fetus subsp. venerealis AZUL-94 strain, with a further single assay specific for the AZUL-94 strain and C. fetus subsp. venerealis biovar intermedius (and not the remaining C. fetus subsp. venerealis biovar venerealis strains tested). C. fetus subsp. fetus and C. fetus subsp. venerealis were found to share most common Campylobacter virulence factors such as SAP, chemotaxis, flagellar biosynthesis, 2-component systems and cytolethal distending toxin subunits (A, B, C). We did not however, identify in C. fetus the full complement of bacterial adherence candidates commonly found in other Campylobacter spp.
Conclusion
The comparison of the available C. fetus subsp. venerealis genome sequence with the C. fetus subsp. fetus genome identified 80 kb of unique C. fetus subsp. venerealis AZUL94 sequence, with subsequent PCR confirmation demonstrating inconsistent amplification of these targets in all other C. fetus subsp. venerealis strains and biovars tested. The assays developed here highlight the complexity of targeting strain specific virulence genes for field studies for the molecular identification and epidemiology of C. fetus.
doi:10.1186/1471-2180-9-86
PMCID: PMC2685401  PMID: 19422718
23.  Congenital Cervical Teratoma:Anaesthetic Management (The EXIT Procedure) 
Indian Journal of Anaesthesia  2009;53(6):678-682.
Summary
Ex utero intrapartum treatment (EXIT) is a procedure performed during caesarean section with preservation of fetal-placental circulation, which allows the safe handling of fetal airways with risk of airways obstruction. This report aimed at describing a case of anaesthesia for EXIT in a fetus with cervical teratoma. A 30-year-old woman, 70 kg, 160 cm, gravida 2, para 1, was followed because of polyhydramniosis diagnosed at 24 weeks’ gestation. During a routine ultrasonographic examination at 35 weeks’ gestation, it was noticed that the fetus had a tumoral mass on the anterior neck, the mass had cystic and calcified components and with a size of was 10 × 6 ×5 cm. The patient with physical status ASA I, was submitted to caesarean section under general anaesthesia with mechanically controlled ventilation for exutero intrapartum treatment (EXIT). Anaesthesia was induced in rapid sequence with fentanyl propofol and rocuronium and was maintained with isoflurane in 2.5 at 3 % in O and N O (50%). After hysterotomy, fetus was partially released assuring uterus-placental circulation, followed by fetal laryngoscopy and tracheal intubation. The infant was intubated with an uncuffed, size 2.5 endotracheal tube. Excision of the mass was performed under general anaesthesia. After surgical intervention, on the fourth postoperative day, the infant was extubated and the newborn was discharged to the pediatric neonatal unit and on the seventh day postoperatively to home without complications. Major recommendations for EXIT are maternal-fetal safety, uterine relaxation to maintain uterine volume and uterus-placental circulation, and fetal immobility to help airway handling. We report one case of cervical teratoma managed successfully with EXIT procedure.
PMCID: PMC2900078  PMID: 20640096
Cervical teratoma; Mass in the neck; Extrauterine intrapartum treatment procedure.
24.  Use of endovascular embolization to treat a ruptured arteriovenous malformation in a pregnant woman: a case report 
Introduction
Pregnancy has been linked to increased rates of arteriovenous malformation rupture. This link remains a matter of debate and very few studies have addressed the management of arteriovenous malformation in pregnancy. Unruptured arteriovenous malformations in pregnant woman generally warrant conservative management due to the low rupture risk. When pregnant women present with ruptured arteriovenous malformation, however, surgery is often indicated due to the increased risk of re-rupture and associated mortality. Endovascular embolization is widely accepted as an important component of contemporary, multimodal therapy for arteriovenous malformations. Although rarely curative, embolization can facilitate subsequent surgical resection or radiosurgery. No previous reports have been devoted to the endovascular management of an arteriovenous malformation in a pregnant woman.
Case presentation
A 23-year-old Caucasian woman presented with headache and visual disturbance after the rupture of a left parieto-occipital arteriovenous malformation in the 22nd week of her pregnancy. After involving high-risk obstetric consultants and taking precautions to shield the fetus from ionizing radiation, we proceeded with a single stage of endovascular embolization followed soon after by open surgical resection of the arteriovenous malformation. There were several goals for the angiography in this patient: to better understand the anatomy of the arteriovenous malformation, including the number and orientation of feeding arteries and draining veins; to look for associated pre-nidal or intra-nidal aneurysms; and to partially embolize the arteriovenous malformation via safely-accessible feeders to facilitate surgical resection and minimize blood loss and operative morbidity.
Conclusion
From our experience and review of the literature, we maintain that ruptured arteriovenous malformations in pregnancy may be managed in a similar manner to those in non-gravid women. Precautions should be taken to reduce the operative time and exposure of the fetus to ionizing radiation and contrast agents.
doi:10.1186/1752-1947-6-113
PMCID: PMC3354995  PMID: 22524895
25.  A Case-Control Study of Maternal Periconceptual and Pregnancy Recreational Drug Use and Fetal Malformation Using Hair Analysis 
PLoS ONE  2014;9(10):e111038.
Objective
Maternal recreational drug use may be associated with the development of fetal malformations such as gastroschisis, brain and limb defects, the aetiology due to vascular disruption during organogenesis. Using forensic hair analysis we reported evidence of recreational drug use in 18% of women with a fetal gastroschisis. Here we investigate this association in a variety of fetal malformations using the same method.
Methods
In a multi-centre study, women with normal pregnancies (controls) and those with fetal abnormalities (cases) gave informed consent for hair analysis for recreational drug metabolites using mass spectrometry. Hair samples cut at the root were tested in sections corresponding to 3 month time periods (pre and periconceptual period).
Results
Women whose fetus had gastroschisis, compared to women with a normal control fetus, were younger (mean age 23.78±SD4.79 years, 18–37 vs 29.79±SD6 years, 18–42, p = 0.00001), were more likely to have evidence of recreational drug use (15, 25.4% vs 21, 13%, OR2.27, 95thCI 1.08–4.78, p = 0.028), and were less likely to report periconceptual folic acid use (31, 53.4% vs 124, 77.5%, OR0.33, 95thCI 0.18–0.63, p = 0.001). Age-matched normal control women were no less likely to test positive for recreational drugs than women whose fetus had gastroschisis. After accounting for all significant factors, only young maternal age remained significantly associated with gastroschisis. Women with a fetus affected by a non-neural tube central nervous system (CNS) anomaly were more likely to test positive for recreational drugs when compared to women whose fetus was normal (7, 35% vs 21, 13%, OR3.59, 95th CI1.20–10.02, p = 0.01).
Conclusions
We demonstrate a significant association between non neural tube CNS anomalies and recreational drug use in the periconceptual period, first or second trimesters, but we cannot confirm this association with gastroschisis. We confirm the association of gastroschisis with young maternal age.
doi:10.1371/journal.pone.0111038
PMCID: PMC4215921  PMID: 25360669

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