Address correspondence to Richard L. Fischer, MD,  Department of OB & GYN, Division of Maternal/Fetal Medicine, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical Center, Camden, NJ 08103-1489. Ph: 609-342-2491 Fax: 609-342-7023.

Synonyms: Cervical teratoma.

Definition: Complex neoplasms composed of tissues derived from all three germinal layers.

Prevalence: 0.25-0.5:10,000 live birth incidence for any fetal teratoma, with sacrococcygeal accounting for over 50%, cranial 40%, and cervical 5.5%.

Etiology: Thought to arise from displaced pluripotent embryonic or extraembryonic cells.

Pathogenesis: Unclear.

Associated anomalies: Rare.

Complications: Polyhydramnios, fetal hydrops, demise, preterm labor, perinatal respiratory obstruction, maternal pre-eclampsia.

Differential diagnosis: Cystic hygroma, cervical neural tube defect, macerated twin fetus, lymphangioma, hemangioma, fetal goiter, branchial cleft cyst.

Prognosis: Poor, but dependent upon the size of the mass. Intrauterine fetal death occurs in approximately 50% of cases. Of those who survive the antenatal period, approximately half subsequently die secondary to respiratory complications.

Recurrence risk: Not at increased risk, as it is not believed to be inherited in a Mendelian or polygenic fashion.

Management: Aggressive neonatal resuscitation including securing an airway early and optimizing ventilation, followed by timely surgical resection.

MESH Teratoma BDE 2919 CDC 238.1 ICD9 238.020

Introduction

Fetal teratomas are rare tumors containing components representative of all embryonic germ layers. Cervical teratomas are particularly infrequent, as they account for only a small proportion of all teratomas.

Prenatal diagnosis of a teratoma rests on ultrasound findings of a semi-solid, semi-cystic mass. Diagnosis will alert the perinatal team of a need for a close and coordinated management approach. Crucial to the neonate"s survival is the timing and mode of delivery, the establishment of a secure airway and timely surgical intervention.

Surprisingly, the fetus may tolerate the mass well, but with especially large teratomas it is imperative to observe for signs of fetal and/ or maternal decompensation. These signs include, but are not limited to, fetal hydrops, preterm labor/delivery and maternal pre-eclampsia. The purpose of this case report is to trace the progression of a fetus with a large cervical teratoma to fetal hydrops and maternal oliguria.

Case report

A 32-year-old woman,G₂P₁₀₀₁, with an estimated gestational age of 21.9 weeks was referred to the Antepartum Diagnostic Center at Cooper Hospital/University Medical Center in Camden, New Jersey. The referral was made secondary to a recent ultrasound demonstrating "a cystic area adjacent to one of the lateral ventricles of the fetal head." The patient"s prenatal course had been unremarkable to date.

On ultrasound examination, the fetal head and body measurements were consistent with the assigned gestational age of 21.9 weeks. A large complex mass with contained calcifications was noted adjacent to the neck region and appeared to be anchored to the left anterior aspect of the fetal neck. This complex mass measured 106*99 mm (figs. 1 & 2).

Figure 1: The teratoma arising from the side of the neck.

Figure 2: Several views of the teratoma demonstrating the large size (compare to the chest in the 4th image), and the heterogeneous texture with cystic, solid and calcified areas.

Two echogenic limb-like structures were seen with acoustic shadowing. Adjacent and most likely attached to this complex mass was a purely cystic mass which measured 82*97 mm. The fetal head was deviated to the right due to the mass effect. No other fetal anomalies were noted. There was a normal amniotic fluid volume, and there was no ultrasonic evidence of fetal hydrops.

Due to the lateral position and the semi-cystic/semi-solid nature of the mass, the lesion was thought to represent a fetal cervical teratoma. Other possibilities entertained included lymphangioma, hemangioma, fetal goiter, cervical neural tube defect and branchial cleft cyst. This mass, however, did not match descriptions typical for any of these other entities.

Amniocentesis for karyotype was declined. The patient was also offered pregnancy termination but again declined. The patient transferred her care to our institution for high-risk prenatal management, and she consulted with a pediatric surgeon.

Prior to her next scheduled ultrasound, the patient was admitted to Cooper Hospital/University Medical Center at 24 1/7 weeks with complaints of increased abdominal girth accompanied by shortness of breath and abdominal pain. Her fundal height measured 47 cm. A detailed ultrasound examination revealed a breech fetus with scalp edema, a small pericardial effusion, cardiomegaly, severe polyhydramnios (amniotic fluid index of 300 mm), and a 70 mm thick placenta, all consistent with fetal hydrops. The hydrops was considered to be a result of: 1) high output failure from a large arteriovenous shunt arising in the teratoma, or 2) fetal anemia from the increased volume of distribution from the teratoma.

A therapeutic amniocentesis was performed, yielding 2800 ml of reddish-brown amniotic fluid. The fluid was analyzed for karyotype and amniotic fluid AFP, which subsequently came back 46XX and 14.29 MoM, respectively. It was suspected, based on the reddish-brown discoloration of the amniotic fluid, that the fetal hydrops might be due to fetal anemia from disruption of the teratomatous capsule and bleeding into the amniotic cavity.

After a discussion of various options, the patient opted for aggressive management in an attempt to prolong the pregnancy. She consented to cordocentesis to rule out fetal anemia which might be correctable by blood transfusion. Cordocentesis was subsequently performed, with an opening hemoglobin and hematocrit of 8.1 gm/dL and 27.0%, respectively. Twenty-six ml of packed red cells were transfused without complications.

During the next 24 hours, the patient developed oliguria unresponsive to two 500 ml crystalloid fluid challenges and one 500 ml bolus of Hespan. The oliguria was felt to be secondary to either ureteral obstruction from an over-distended uterus or incipient pre-eclampsia. Maternal blood pressure at that time was 117/65, with 1-2+ proteinuria, 2+ pedal edema and normal deep tendon reflexes.

The following day, a repeat ultrasound showed evidence of continued amniotic fluid re-accumulation. A second therapeutic amniocentesis was undertaken with aspiration of 1350 ml of brownish amniotic fluid. At the completion of the amniocentesis, an IM injection of 0.02 mg of digoxin was given into the fetal deltoid in an attempt to improve cardiac contractility.

Several hours following the second amniocentesis, the patient experienced spontaneous rupture of membranes and uterine contractions every 4 to 6 minutes. In light of the fetal hydrops, persistent severe oliguria and ruptured membranes associated with contractions, the decision was made to proceed with delivery. Due to the size of the teratoma and persistent breech presentation, it was feared that vaginal delivery might result in birth dystocia. A primary classical cesarean section was hence performed, and a female infant weighing 2440 g was delivered. The Apgar score was 1 at 1 minute, 1 at 5 minutes and 1 at 10 minutes. There was no respiratory effort or movement. Based on the early gestational age and size of the teratoma, the neonatal team felt that the infant was not a surgical candidate, and only comfort care was given. The baby died at 15 minutes of life.

Autopsy

On postmortem examination, the huge cervical mass, measuring 200 x 130 x 80 mm, was attached to and involved the left lateral soft tissue of the face and neck (fig.3). The external surface of the mass was glistening and dark red and included structures resembling limbs (fig.3). An attached sac-like structure was seen, also with a limb on the surface.

Figure 3: Close-up view of the teratoma (first image). Note the limb-like structure originating from the teratoma (second image).

On sectioning the complex mass, glistening dark red areas with solid fleshy components and an encephaloid consistency were noted (fig. 4). This was seen along with areas of edema and hemorrhage. There was a thin, bony attachment of the mass to the left lateral aspect of the head where the external ear should have been normally located.

Figure 4: Cut section of the teratoma.

On microscopic examination of the cervicofacial tumor, an organoid growth pattern was observed. Both mature and immature teratomatous tissues were identified. The immature teratoma was represented predominately by immature neuroepithelium. The amount of neuroepithelium present was characteristic of a histologically grade 3 (Norris classification) immature teratoma¹. There was no evidence of metastatic disease.

Representative sections of the visceral organs showed development that was appropriate for the estimated gestational age. The visceral organs were uninvolved by the tumor, and no other anomalies were noted. Examination of the placenta revealed a late second trimester placenta with focal hydropic degeneration of the chorionic villi.

Discussion

Definition

Teratomas are complex neoplasms consisting of multiple various tissue types and occurring at sites foreign to their natural anatomic origin. Typically, teratomas contain derivatives from all three germinal layers. They generally appear by ultrasound to contain cystic and solid components. Teratomas may be encountered at numerous sites. Cervical teratomas, in particular, are frequently large and mobile, usually emanating from the lateral aspect of the neck. Cervical teratomas need be considered in the differential diagnosis of any fetal mass in the head and neck region.

Prevalence

Perinatal neoplasms account for just 2-3% of all childhood tumors, with teratomas the most common variety². The incidence of congenital teratoma is reported as 1:20,000 to 1:40,000 live births³. Location as noted above is variable. They are most frequently found in the sacrococcygeal area, although other sites include cranial, orbital, nasopharyngeal, thyroidal, cervical, mediastinal, retroperitoneal and gonadal⁴. Cervical teratomas are quite rare, accounting for 5.5% of all fetal teratomas^3,5. The first known case was reported in 1854⁶.

Etiology and pathogenesis

The etiology and pathogenesis of teratomas are presently unclear, although numerous theories have been proposed. The diverse cellular origins of teratomas have sparked debate regarding the histogenesis of these tumors. Theoretical sources of teratomas include 1) displaced primordial germ cells, 2) embryonic cells, 3) extraembryonic cells, 4) inclusion of conjoined or maldeveloped twins, 5) totipotent stem cells or 6) pluripotent cell types native to the site of origin of the teratoma⁷. One hypothesis purports that teratomas located in the anterior portion of the neck originate from embryonic cells in the primitive thyroid anlage, while another theory states that these tumors may result from incomplete twinning in which blastula stage cells separate and form a partial embryo. The latter is supported by evidence of teratomas that arise at sites where conjoined twins occur⁶. Despite numerous and varied theories, no single one adequately captures the etiology and/or pathogenesis of cervical teratomas.

Associated anomalies

Other anomalies should be ruled out whenever the diagnosis of a fetal teratoma is considered. Anomalies associated with sacrococcygeal teratomas are better known than those associated with the more rare cervical teratomas. Musculoskeletal, renal and neural abnormalities have been discovered in approximately 18% of teratomas in the sacrococcygeal region⁷. Abnormalities associated with cervical teratomas have been reported and include cystic fibrosis, hypoplastic left ventricle with pulmonary hypoplasia, chondrodystrophia fetalis and imperforate anus⁸.

Complications

Multiple complications may result from cervical teratomas. Hemorrhage into the cervical mass, either prenatally or intrapartum, may cause fetal decompensation. Early neonatal death most often results from lethal respiratory distress secondary to tracheal compression from the mass. Non-immune fetal hydrops can also result, which may lead to fetal demise. The mechanism is believed to be a tumor-mediated arteriovenous shunt, leading to high output failure⁹. Fetal tumors constitute 5-7% of cases of fetal hydrops¹⁰.

Polyhydramnios is another possible complication in cases of fetal cervical teratomas, seen in 30% of cases. Anatomically, these masses may interfere with swallowing and therefore lead to an accumulation of amniotic fluid¹¹. Both the polyhydramnios and the sheer tumor size may cause increased uterine distention, resulting in preterm labor. Over-distended uteri from polyhydramnios have been known to cause maternal ureteral obstruction, resulting in oliguria, anuria or even acute obstructive renal failure^12,13,14.

Differential diagnosis

A differential diagnosis of cervical masses should include meningocele, cystic hygroma, lymphangioma, hemangioma, fetal goiter, branchial cleft cyst, macerated twin fetus and cervical teratoma. Detailed and careful ultrasonographic evaluation, aided by color flow Doppler, should differentiate the above on most occasions. A well defined, partially cystic, partially solid mass at the anterolateral portions of the fetal neck with hyperextension of the neck is characteristic of a cervical teratoma.

Prognosis

The prognosis of fetuses with cervical teratomas is quite poor. Approximately 50% of these fetuses die in utero, while those infants born alive have a 50% mortality rate from respiratory complications immediately postpartum¹¹. The prognosis is related to the size of the mass and surgical operability. Other prognostic factors include gestational age of the fetus at the time of delivery, presence or absence of associated fetal malformations, presence or absence of fetal hydrops and the availability of a resuscitation team to secure a neonatal airway following delivery¹⁰.

Recurrence risk

There is no increased recurrence risk of fetal cervical teratomas, as they are not believed to be inherited in a Mendelian or polygenic fashion³.

Management

The prenatal diagnosis of a cervical teratoma allows for a management approach tailored to meet its anticipated complications¹⁵. Although prenatal ultrasonic diagnosis has not yet affected mortality from cervical teratomas, it is hoped that with further experience and a management team approach, mortality can be reduced⁵. In the event of a prenatally diagnosed cervical teratoma, a careful ultrasonic evaluation should be undertaken to rule out other anomalies⁴. Serial ultrasound examinations should be performed to document the growth of the teratoma as well as the development of any complications, such as fetal hydrops.

Many of these infants die secondary to prematurity. The degree of lung function is a limiting factor in the extrauterine survival of these neonates². Tocolysis along with other modalities (e.g. therapeutic amniocentesis for polyhydramnios) to delay delivery in a fetus with known or suspected pulmonary immaturity should be employed when necessary⁷. In the future, fetal surgery may provide a means to resect the lesion and hence prolong gestation¹⁰. Cesarean section, especially for large tumors, is indicated to avoid birth dystocia and/or teratoma avulsion³.

The most urgent complication in a neonate with a cervical teratoma is a compromised airway. The establishment of a secure airway is therefore paramount. The effort to establish an airway can be optimized by maintaining an intact maternal-fetal circulation until that airway is guaranteed⁵. Endotracheal intubation or emergency tracheotomy must be prepared for. Further immediate surgical intervention (i.e. tumor resection) should be anticipated in cases of large cervical teratomas.

The team approach is of utmost importance in providing an organized and coordinated care plan. An obstetrician and/or perinatologist, neonatologist, pediatric surgeon and if necessary, anesthesiologist and otolaryngologist should all be available in the delivery suite for the birth, resuscitation and possible surgical intervention of the neonate^5,7. At present, surgical removal offers the best potential for survival and cure.

References

1. Norris HJ, Zirkin HJ, Benson WL. Immature (malignant) teratoma of the ovary: a clinical and pathologic study of 58 cases. Cancer 1976;37:2359-72.

2. Weinraub Z, Gembruch U, Fodisch HJ, et al. Intrauterine mediastinal teratoma associated with non-immune hydrops fetalis. Prenat Diagn 1989;9:369-72.

3. Teal LN, Antuaco TL, Jimenez JF, et al. Fetal teratomas: antenatal diagnosis and clinical management. JCU 1988;16:329-36.

4. Kuller JA, Laifer SA, Martin JG, et al. Unusual presentations of fetal teratoma. J Perinatol 1991;11:294-6.

5. Sherer DM, Woods JR Jr., Abramowicz JS, et al. Prenatal sonographic assessment of early, rapidly growing fetal cervical teratoma. Prenat Diagn 1993;13:1079-84.

6. Hitchcock A, Sears RT, O"Neill T. Immature cervical teratoma arising in one fetus of a twin pregnancy. Case report and review of the literature. Acta Obstet Gynecol Scand 1987;66:377-9.

7. Chervenak FA, Isaacson G, Touloukian R, et al. Diagnosis and management of fetal teratomas. Obstet Gynecol 1985;66:666-71.

8. De Catte L, De Backer A, Goosens A, et al. Teratoma, neck. Fetus 1992;2:1-6.

9. Cousins L, Benirschke K, Porreco R, et al. Placentomegaly due to fetal congestive failure in a pregnancy with a sacrococcygeal teratoma. J Reprod Med 1980;25:142-144.

10. Walton JM, Rubin SZ, Soucy P, et al. Fetal tumors associated with hydrops: the role of the pediatric surgeon. J Pediatr Surg 1993;28:1151-3.

11. Trecet JC, Claramunt V, Larraz J, et al. Perinatal ultrasound diagnosis of fetal teratoma of the neck.

JCU 1984;12:509-11.

12. Bennett AH, Alder S. Bilateral ureteral obstruction causing anuria secondary to pregnancy. Urology 1982;20:631-3.

13. O"Shaughnessy R, Weprin SA, Zuspan FP. Obstructive renal failure by an over-distended pregnant uterus. Obstet Gynecol 1980;55:247-9.

14. Homans AC, Blake GD, Harrington JT, et al. Acute renal failure caused by ureteral obstruction by a gravid uterus. JAMA 1981;246:1230-1.

15. Sakaguchi T, Suita S, Nakano H, et al. Significance of prenatal diagnosis in a patient with a huge neck tumor. J Perinat Med 1991;19:191-7.

Published in The Fetus in 1994. posted 6/1999