[Umbilical cord cyst--should it concern us?].

INTRODUCTION: Advancements in sonographic technology have led to improved prenatal detection of fetal umbilical cord and placental anomalies. The prevalence of umbilical cord cystic masses detected in the first trimester is 0.4% to 3.4%. The second- and third-trimester umbilical cord cysts are a rare sonographic finding and its prevalence is unknown. There is a strong association between umbilical cord cysts and fetal anomalies but not in all cases. The main questions are: what are the implications of these findings and what is the prenatal follow-up that should be offered. CASE REPORT: In this study the authors present a case in which an umbilical cord cyst was diagnosed at 29 weeks of gestation following normal integrated test and anatomical sonographic survey. At 32 weeks of gestation, fetal karyotype was found to be normal. The outcome of the pregnancy was normal and so was the developmental follow-up during the first three years. DISCUSSION AND CONCLUSIONS: From the literature survey it appears that transient first-trimester cysts are not associated with chromosomal anomaLies, yet they might be associated with congenital maLformations, especially those of the abdominal wall and the urinary tract, and should lead to further detailed sonographic evaluation. Routine karyotype may not be necessary. Second and third trimester umbilical cord cystic masses accompanied by additional malformations are strongly associated with chromosomal anomalies, especially with trisomy 18. Second- and third-trimester umbilical cord cystic masses without additional abnormal findings were also found to be associated with chromosomal anomalies in some works. Therefore, these findings should be an indication for fetal karyotype. In the case of an isolated umbilical cord cyst with normal karyotype, serial sonographic evaluation is needed. If all these are normal, it may be presumed that the cyst is an isolated umbilical cord anomaly and that the fetal prognosis is good.

Familial urachal sinus associated with a possible congenital malformation: report of a case.

We report a rare case of familial urachal disease associated with a congenital malformation. A 34-year-old woman was referred to our hospital with recurrent umbilical purulent discharge. She had undergone partial resection of the small intestine for obstruction and, later, a pyeloplasty for a stricture of the ureter-pyelo junction. Her younger brother had also undergone surgery for a urachal sinus 1 year earlier. She was found to have an umbilical granuloma with a fistulous track that could be probed for 3 cm distally. Computed tomography (CT) and ultrasonography confirmed the fistulous track. Under a diagnosis of urachal sinus, a urachal remnant was excised. Histological analysis of the excised specimen revealed only inflammatory granulomatous tissue with marked infiltration of lymphocytes and foreign body giant cells. Urachal cysts are associated with a risk of intestinal strangulation and therefore, the finding of urachal disease justifies detailed evaluation.

Umbilical cord pseudocyst in a fetus with trisomy 18.

An umbilical cord pseudocyst was detected in the 28th week of gestation in a fetus complicated with growth restriction and polyhydramnios. The combination of cord pseudocysts, growth restriction, and polyhydramnios prompted us to perform a detailed ultrasonographic examination (gray scale and three-dimensional), which revealed the presence of micrognathia, overlapping fingers, and congenital heart defects, features characteristic of trisomy 18. Karyotyping confirmed a diagnosis of trisomy 18. After spontaneous labor onset, the infant was delivered at 31 weeks of gestation, and died soon after delivery. An umbilical cord pseudocyst is a good marker for the prenatal detection of trisomy 18.

Pseudocyst of the umbilical cord: prenatal sonographic appearance and clinical significance.

OBJECTIVE: To assess the clinical significance of umbilical cord pseudocysts detected prenatally by sonography. METHODS: The prenatal sonographic findings, karyotype, and perinatal outcome in 13 fetuses with umbilical cord pseudocysts were reviewed retrospectively. RESULTS: Umbilical cord pseudocysts were diagnosed at a median gestation of 27 weeks (range 15-37). Pseudocysts were single in eight cases with cyst diameters ranging from 20 to 50 mm, and double in one case. In the remaining four cases, multiple small cystic masses measuring less than 8 mm were identified. Additional sonographic findings were noted in 11 cases; ten of these fetuses had prenatal karyotyping, which showed trisomy 18 in five cases, trisomy 13 in one case, and a 46,XX, inv ins(18;21) complement in one case. Among the seven chromosomally abnormal fetuses, umbilical cord pseudocysts were multiple in four fetuses and single in three. All chromosomally abnormal fetuses and two euploid fetuses with associated structural defects died in utero or in the neonatal period. There were no perinatal complications in either of the fetuses with isolated pseudocysts. CONCLUSION: The prenatal sonographic appearance of umbilical cord pseudocysts varied widely. These umbilical cord cystic masses were associated strongly with chromosomal disorders and structural defects, regardless of their sonographic appearance in utero.

The sonographic finding of persistent umbilical cord cystic masses is associated with lethal aneuploidy and/or congenital anomalies.

Advancements in sonographic technology have led to improved prenatal detection of fetal anomalies. Umbilical cord cystic masses are being detected prenatally and several case reports have appeared in the literature. We report three new cases in which umbilical cord cystic masses were detected prenatally; two cases in the later half of pregnancy and one case in the first trimester. The literature was reviewed and summaries of the 23 reported cases of persistent second- and third-trimester umbilical cord cystic masses and their implications are discussed. There is a high association (18 of 23 cases) with lethal chromosomal anomalies and/or congenital malformations suggesting that the finding of an isolated umbilical cord cystic mass should lead to further detailed sonographic evaluation.

Prenatal diagnosis of omphalocele associated with umbilical cord cyst.

BACKGROUND: To study the cytogenetics, ultrasound findings, biochemical screening, perinatal outcome, and associated abnormalities in cases of omphaloceles associated with umbilical cord cysts. METHODS: From 1988 to 1994, three cases of omphaloceles with umbilical cord cysts were identified at Mackay Memorial Hospital. We compared the clinical data of our three cases with six other cases in the published literature. RESULTS: Two cases of omphaloceles with umbilical cord cysts were affected with trisomy 18. One had bilateral choroid plexus cyst, intrauterine growth retardation, low levels of maternal serum alpha-fetoprotein and free beta-human chorionic gonadotropin, and the other had cleft lip and palate, single umbilical artery and intrauterine growth retardation. An elevated level of maternal serum alpha-fetoprotein was found in the case with normal karyotype. Elevated levels of amniotic fluid alpha-fetoprotein were found in two cases. Rupture of the umbilical cord cyst and disruption of the umbilical cord occurred in one case at delivery. Based on the gross and microscopic examinations, the cord cysts we observed are likely to be pseudocysts. CONCLUSION: The umbilical cord cysts most commonly associated with omphaloceles are pseudocysts and allantoic cysts. Among our three cases and the six other cases published in the literature, four out of these nine cases were trisomy 18. Prenatal diagnosis of omphaloceles or umbilical cord cysts by ultrasound warrants cytogenetic analysis and detailed sonogram to rule out the possible combination of both abnormalities and trisomy 18. If an omphalocele is associated with a large umbilical cord cyst and a normal karyotype, cesarean section is recommended to prevent the dilemma of intrauterine vascular compromise of umbilical blood flow during labor.