Chromosomal abnormalities associated with a single umbilical artery

Abstract

A single umbilical artery was seen in 10 out of 117 cytogenetically abnormal pregnancies. The abnormal karyotypes found to be associated with a single umbilical artery were trisomy 18 (n = 5), monosomy X (n = 2), triploidy (n = 1), sex chromosome (47,XYY; n = 1) and translocation (46t(X,5)(q13p15);n = 1). With the exception of the translocation case, all cases with a single umbilical artery had anatomical defects which were detectable ultrasonographically. This suggests that a single umbilical artery alone is not an indication for prenatal fetal karyotyping.

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

“…The relative risk for aneuploidy was calculated to be 9.4 when SUA was an isolated finding, increasing to 16.4 if other minor sonographic markers were also detected 11 . Isolated SUA should apparently not be considered as an indication for prenatal evaluation of fetal chromosomes 12 . However, it should be emphasized that identification of other fetal anomalies on ultrasound is not always easy.…”

Prenatal sonographic diagnosis of single umbilical artery

“…Because most fetuses with isolated SUA are normal, invasive prenatal diagnostic procedures such as amniocentesis or cord blood sampling for chromosomal analysis may not be indicated. 7 In our study, there were 2 twins with SUA; in both cases, the other twin had a normal umbilical cord. The incidence of IUGR in isolated SUA in our study was not significantly higher than previously reported.…”

Prenatal diagnosis of monosomy 10q25 associated with single umbilical artery and sex reversal: report of a case

“…Furthermore, fetuses with central nervous system malformations associated with a SUA are at extremely high risk for chromosomal abnormality (Saller and Neiger, 1994). However, the real incidence of chromosomal abnormalities among pregnancies demonstrating a SUA is unknown (Khong and George, 1992). Whether SUA is an isolated finding or is associated with other anomalies remains obscure.…”

“…Whether SUA is an isolated finding or is associated with other anomalies remains obscure. Recent data have suggested that with the exception of cases involving translocation, all abnormal karyotypes found to be associated with a SUA had other anatomical defects which were detectable ultrasonographically (Khong and George, 1992). Therefore, it is suggested that anatomical defects or growth retardation rather than a SUA alone are indications for prenatal karyotyping.…”