Intra-abdominal varix of the umbilical vein—Is it an indication for fetal karyotyping?

Challis, D; Trudinger, BJ; Moore, Lynette; Kennedy, D J; Ryan, Greg; Toi, Ants; Seaward, G.; Chitayat, David

doi:10.1016/s0002-9378(97)80376-6

Cited by 18 publications

(17 citation statements)

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“…3,6 Recently, it was suggested that this prenatal finding should also be considered as a soft marker of aneuploidy. 10 Our experience and the review of comparable cases reported in the literature revealed that intrafetal umbilical vein varix is associated with a perinatal mortality rate of 24%. Moreover, fetal aneuploidy was found in 12% of the cases, and 5% of the fetuses developed hydrops.…”

Section: Discussionmentioning

confidence: 73%

“…This finding is in keeping with a recent series of eight fetuses with umbilical vein varix in which poor outcome occurred only in the two fetuses with aneuploidy. 10 On the other hand, no cases of poor outcome were noted in another two series in which the umbilical vein varix was an isolated finding. 7,8 Second, gestational age at diagnosis also may have an impact in fetal prognosis.…”

Section: Discussionmentioning

confidence: 92%

“…Review of the literature revealed that a prenatal diagnosis of varix of the intrafetal umbilical vein had been reported in 43 cases, including this series ( Table 2). [3][4][5][6][7][8][9][10] Information regarding pregnancy outcome was not available in one case 4 and, therefore, this case was excluded from further analysis. Of the remaining 42 cases, the diagnosis was made before 28 weeks' ges-…”

Section: Resultsmentioning

confidence: 99%

“…Of the 32 survivors, one fetus developed hydrops 2 weeks after the detection of the umbilical vein varix, with spontaneous resolution after birth, 6 one delivered prematurely at 33 weeks' gestation, 6 one developed transient cardiomegaly in utero, 7 and another with trisomy 21 had esophageal atresia and underwent surgical correction after birth. 10 None of the remaining 28 fetuses had prenatal complications, and all had a normal postnatal outcome. Overall, chromosomal abnormality was confirmed in five of the 42 cases (12%), including two fetuses with trisomy 21, two with trisomy 18, and one with trisomy 9.…”

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confidence: 97%

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Fetal prognosis in varix of the intrafetal umbilical vein.

Sepúlveda

Mackenna

Sánchez

et al. 1998

Journal of Ultrasound in Medicine

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To assess the clinical significance of varix of the intraabdominal portion of the umbilical vein, we reviewed 10 cases diagnosed prenatally by ultrasonography at a median gestational age of 27 weeks. A comprehensive anatomic survey and serial follow-up scans were performed in each case. All three fetuses with associated anomalies died in utero, and prenatal karyotyping revealed that two of them had a chromosomal abnormality. In six of the seven cases with structurally normal fetuses the pregnancy proceeded uneventfully, and no neonatal complications were attributed to the umbilical vein varix. Our experience and the review of the literature revealed 42 cases with information on fetal outcome. Overall, 24% of the fetuses died, 12% had a chromosomal abnormality, and 5% developed hydrops. We conclude that fetuses with varix of the intrafetal umbilical vein should be considered at risk for poor outcome. However, if no other anomalies are present, the prognosis is generally good.

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Section: Discussionmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 92%

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 97%

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Fetal prognosis in varix of the intrafetal umbilical vein.

Sepúlveda

Mackenna

Sánchez

et al. 1998

Journal of Ultrasound in Medicine

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“…Amniocentesis should be offered when other anomalies are found. 6 It is also prudent to refer the patient for fetal echocardiography to exclude minor cardiac anomalies that may not have been diagnosed during the earlier fetal scan. All of the cases described in this series had other anomalies excluded during pregnancy or after birth.…”

Section: Discussionmentioning

confidence: 99%

Isolated Fetal Intra-Abdominal Umbilical Vein Varix

Mankuta

Nadjari

Pomp

2011

Journal of Ultrasound in Medicine

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This series describes a single center's experience in follow-up and management of fetuses with an isolated fetal intra-abdominal umbilical vein varix. All cases with a fetal intra-abdominal umbilical vein varix that were diagnosed or referred to our medical center over 15 years were followed and managed. The definition of a fetal intra-abdominal umbilical vein varix used was a segment dilated to 9 mm or greater or at least 50% wider than the diameter of the adjacent umbilical vein. Over the 15-year period, our center had approximately 65,000 births with 28 cases of isolated fetal intra-abdominal umbilical vein varices: a prevalence rate of 1 case per 2300 births. Three of the 28 cases (10.7%) had intrauterine growth restriction. Five of 30 fetuses (17%) showed turbulent flow in the varix. We had no cases of intrauterine fetal death, and 27 of the 28 neonates had good outcomes. In contrary to earlier reports, we found that when a fetal intra-abdominal umbilical vein varix is isolated, a good fetal outcome is expected. On the basis of our experience, we have changed our policy and do not recommend inducing preterm labor. Nevertheless, close fetal surveillance until delivery is warranted.

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Abnormalities of the umbilico‐portal venous system in Down syndrome: A report of two new patients

Pipitone¹,

Garofalo

Corsello

et al. 2003

American J of Med Genetics Pt A

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Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt. Both patients also had heart defects. As previously documented in other reports, our cases demonstrated that this association may be causally-related to the chromosomal aberration. In addition, the umbilico-portal venous system abnormalities seems to be the most frequent congenital vascular malformation in Down syndrome. A presumptive pathogenetic mechanism could be a trisomy 21-related altered angiogenesis of the vitelloumbilical plexus.

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Intra-abdominal varix of the umbilical vein—Is it an indication for fetal karyotyping?

Cited by 18 publications

References 0 publications

Fetal prognosis in varix of the intrafetal umbilical vein.

Fetal prognosis in varix of the intrafetal umbilical vein.

Isolated Fetal Intra-Abdominal Umbilical Vein Varix

Abnormalities of the umbilico‐portal venous system in Down syndrome: A report of two new patients

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