Umbilical cord pseudocyst in trisomy 18

Jauniaux, Eric; Donner, Cathérine; Thomas, C S; Francotte, Jacques; Rodesch, Frédéric; Avni, Freddy

doi:10.1002/pd.1970080802

Cited by 43 publications

(24 citation statements)

References 20 publications

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“…Umbilical cord cysts or pseudocysts have been reported most commonly in association with trisomy 18 [25][26][27] or trisomy 13 28 . Smith et al 29 reported a high incidence of chromosomal or structural anomalies in fetuses with umbilical cord cysts (18 of 23 cases).…”

Section: Cystic Masses Of the Umbilical Cordmentioning

confidence: 99%

“…Compared to true cysts, on histologic examination pseudocysts show absence of the epithelial lining. Prenatal differentiation between a true umbilical cyst and a pseudocyst on ultrasound is neither possible nor important, as pseudocysts were also associated with fetal abnormalities 25,26 . Although umbilical cord cysts may be found as a normal variant in pregnancy, a meticulous search for other structural malformations is indicated in these cases (Figure 4).…”

Section: Cystic Masses Of the Umbilical Cordmentioning

confidence: 99%

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Sonographic findings of the umbilical cord: implications for the risk of fetal chromosomal anomalies

Weissman

Drugan

2001

Ultrasound in Obstet & Gyne

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Section: Cystic Masses Of the Umbilical Cordmentioning

confidence: 99%

Section: Cystic Masses Of the Umbilical Cordmentioning

confidence: 99%

Sonographic findings of the umbilical cord: implications for the risk of fetal chromosomal anomalies

Weissman

Drugan

2001

Ultrasound in Obstet & Gyne

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“…Several recent reports indicated that umbilical cord pseudocysts occur very frequently in fetuses with aneuploidy, especially with trisomy 18 [5][6][7][8], suggesting that their ultrasonographic detection may be of great help in the prenatal diagnosis of this disorder [5][6][7][8]. In this report, we present a case in which a fetus found to have umbilical cord pseudocysts by ultrasonography was confirmed to have trisomy 18 by karyotyping.…”

Section: Introductionmentioning

confidence: 78%

Umbilical Cord Pseudocyst in a Fetus with Trisomy 18

Kuwata¹,

Matsubara²,

Izumi³

et al. 2003

Fetal Diagn Ther

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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.

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“…The present study is focused on umbilical cord cyst which has been associated to fetal anomalies and aneuploidies since 1988 in a study developed by Jauniaux et al (6) . Correlation between umbilical cord cysts and anomalies was found in up to 50% of cases, particularly in findings occurred at the second and third trimesters of gestation.…”

Section: 34)mentioning

confidence: 99%

Correlação entre o achado ultra-sonográfico isolado de cisto de cordão umbilical e anomalias fetais

et al. 2008

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OBJECTIVE: To correlate the isolated sonographic finding of umbilical cord cyst with fetal anomalies such as chromosomopathies and structural changes. According to the medical literature, the clinical implications of the sonographic finding of umbilical cord cyst in the second and third trimesters of pregnancy are well established; however, the meaning of this finding in the first trimester still remains controversial. MATERIALS AND METHODS: A retrospective study was developed with consecutive, pregnant women with single living fetuses presenting with umbilical cord cyst as an isolated finding, over a 10-year period (1996)(1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006). Ultrasound studies were performed in all cases for screening of fetal anomalies after the diagnosis of umbilical cord cyst. Neonates and umbilical cords were evaluated after delivery for the presence of abnormalities. RESULTS: Nine cases presenting umbilical cord cyst as a sole finding with no other sonographic marker for fetal abnormality were evaluated. Two cases were detected in the first pregnancy trimester and seven cases in the second and third trimesters. Fetal cytogenetic study was done by means of amniocentesis in two cases. No newborn presented with structural anomalies or aneuploidy. CONCLUSION: Isolated sonographic finding of umbilical cord cyst did not imply increased risk for fetal structural anomalies or aneuploidies.

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Umbilical cord pseudocyst in trisomy 18

Cited by 43 publications

References 20 publications

Sonographic findings of the umbilical cord: implications for the risk of fetal chromosomal anomalies

Sonographic findings of the umbilical cord: implications for the risk of fetal chromosomal anomalies

Umbilical Cord Pseudocyst in a Fetus with Trisomy 18

Correlação entre o achado ultra-sonográfico isolado de cisto de cordão umbilical e anomalias fetais

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