Giant cystic umbilical cord associated with patent urachus and intrauterine fetal demise Kira Brooks, MD, Joseph Guileyardo, MD, Don Le, DO, and Jesy Joykutty, DO

True cystic structures within the umbilical cord are rare, and when they persist into the second and third trimester, they are often associated with an abnormal karyotype or other developmental abnormalities. Clinically significant pseudocysts resulting from massive edema of the umbilical cord have been associated with a congenitally patent urachus. We present a case of intrauterine fetal demise at 28 weeks’ gestation in which cystic dilatation of the umbilical cord was diagnosed prenatally by ultrasound imaging. At autopsy, a congenitally patent urachus was contiguous with the massively edematous umbilical cord.

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mbilical cord cysts detected beyond the first trimester have a strong association with congenital anomalies and aneuploidy (1). In a case series by Smith et al, 18 of 23 neonates diagnosed with cystic umbilical cords were found to have an abnormal karyotype or other congenital anomalies (1). Pseudocysts are not true epithelial-lined cysts but result from edema of the umbilical cord and may be associated with a patent urachus (2, 3). Herein we describe a stillbirth of a fetus previously diagnosed, by ultrasound, with a large, cystic umbilical cord in the second trimester. CASE DESCRIPTION A 21-year-old gravida 2 para 0 woman presented to her obstetrician at 8 weeks and 1 day gestation for confirmation of pregnancy. Her medical history was unremarkable aside from a previous ectopic pregnancy treated with salpingectomy. Routine ultrasonography, performed at 19 weeks’ gestation, disclosed a large cystic umbilical cord measuring 42 × 34 × 30 mm. A sonogram performed at 24 weeks’ gestation confirmed the large cystic cord (Figure 1) and polyhydramnios. Noninvasive perinatal testing, antiphospholipid antibody screening, and TORCH titers drawn during the pregnancy were normal. Amniocentesis for karyotyping was declined by the patient, who was evaluated again at 26 weeks and had a normal umbilical Doppler exam. A short cervix was noted during this encounter, and the patient was given steroids to promote fetal lung maturity. At 27 weeks there were no changes, but at 28 weeks and 4 days the patient reported excessive fetal movement followed by absence of fetal activity. Fetal demise was documented, induction and vaginal delivery followed, and a massively enlarged and cystic umbilical cord was seen at delivery. Proc (Bayl Univ Med Cent) 2017;30(2):209–210

Figure 1. Sonographic image of umbilical cord cyst.

Figure 2. Patent urachus extending up to the clamped portion of the fetal umbilical cord.

Autopsy findings of the male fetus included a patent urachus extending from the dome of the urinary bladder into the threevessel umbilical cord. The urachus could be easily probed to the clamped portion of the cord nearest the baby (Figure 2). This patent urachus was contiguous with the massively edematous and cystic portion of the umbilical cord (Figure 3). Additional From the Departments of Obstetrics and Gynecology (Brooks, Joykutty) and Pathology (Guileyardo, Le), Baylor University Medical Center at Dallas, Texas. Corresponding author: Kira Brooks, MD, Department of Obstetrics and Gynecology, Baylor University Medical Center at Dallas, 3500 Gaston Avenue, Dallas, TX 75246 (e-mail: [email protected]). 209

Figure 3. Placenta with attached giant edematous umbilical cord. The umbilical vessels can be clearly seen within the edematous portion of the cord.

autopsy findings included focal cord stricture away from the edematous portion and focal umbilical vessel thrombosis. Only two vessels were seen in microscopic sections of the cord stricture. G-band chromosomal analysis confirmed a normal male 46 XY karyotype; however, microarray DNA analysis was unsuccessful. DISCUSSION The mechanism of pseudocyst formation of the umbilical cord associated with a patent urachus is not known, but it has been theorized that reflux of hypoosmotic fetal urine into the cord may result in swelling of Wharton’s jelly (3). A patent urachus is rare, with an incidence of only 1 to 2 per 100,000 deliveries (4). The diagnosis may be made antenatally, but in utero diagnosis is difficult, since a communication between the bladder and the adjacent cystic mass may not always be visible by sonogram (4). Fortunately, a patent urachus usually

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carries a favorable prognosis, but infectious and even neoplastic complications are known to occur. Clinical appreciation of this anomaly can lead to further evaluation and follow-up in order to determine the need for additional therapy such as surgical ligation or excision. Therefore, the finding of a cystic umbilical cord should prompt careful search for a patent urachus, which may be the cause of this condition. Normal live birth without other developmental abnormalities or aneuploidy may be seen with cystic umbilical cord dilatation, but cystic cords have also been associated with vascular thrombosis and stillbirth (5). No standard exists for evaluation, monitoring, and treatment of cystic umbilical cords, but due to the high occurrence of congenital anomalies and aneuploidy, detailed sonographic imaging and karyotyping have been recommended (3). However, umbilical cord Doppler echograms were performed weekly on this patient with no abnormal findings, and it is unlikely that closer surveillance would have changed the outcome in this case. It has also been proposed that color Doppler may distinguish vascular and nonvascular cord masses and may aid in detecting impaired blood flow (4). 1.

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Smith GN, Walker M, Johnston S, Ash K. The sonographic finding of persistent umbilical cord cystic masses is associated with lethal aneuploidy and/or congenital anomalies. Prenat Diagn 1996;16(12):1141–1147. Kilicdag EB, Kilicdag H, Bagis T, Tarim E, Yanik F. Large pseudocyst of the umbilical cord associated with patent urachus. J Obstet Gynaecol Res 2004;30(6):444–447. Nobuhara KK, Lukish JR, Hartman GE, Gilbert JC. The giant umbilical cord: an unusual presentation of a patent urachus. J Pediatr Surg 2004;39(1):128–129. Schiesser M, Lapaire O, Holzgreve W, Tercanli S. Umbilical cord edema associated with patent urachus. Ultrasound Obstet Gynecol 2003;22(6):646– 647. Sepulveda W, Wong AE, Gonzalez R, Vasquez P, Gutierrez J. Fetal death due to umbilical cord hematoma: a rare complication of umbilical cord cyst. J Matern Fetal Neonatal Med 2005;18(6):387–390.

Baylor University Medical Center Proceedings

Volume 30, Number 2

Giant cystic umbilical cord associated with patent urachus and intrauterine fetal demise.

True cystic structures within the umbilical cord are rare, and when they persist into the second and third trimester, they are often associated with a...
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