[show abstract][hide abstract] ABSTRACT: To determine the need for fetal karyotyping in cases of an isolated single umbilical artery (SUA) identified during the second-trimester routine anomaly scan.
All patients booked for antenatal care and delivery in our hospital are offered two ultrasound scans in pregnancy, one at 11-13 weeks' gestation as part of screening for chromosomal defects and another at 20-23 weeks for detailed fetal examination. In addition we examine patients referred from other hospitals because of suspected fetal abnormalities during their routine second-trimester scan. We performed a search of the database to retrieve all cases with an SUA and reviewed the ultrasound findings, fetal karyotype and pregnancy outcome.
There were 643 cases with SUA, including 424 (65.9%) where the condition was isolated, 133 (20.7%) with one major fetal defect and 86 (13.4%) with multiple defects. The incidence of chromosomal abnormalities was 0% in the isolated SUA group, 3.7% in those with one defect and 50.7% in those with multiple defects. The commonest chromosomal abnormalities were trisomy 18, trisomy 13 and triploidy, which together accounted for 82.9% of cases.
The finding of an SUA should prompt the sonographer to search for fetal defects and if these are found the risk for chromosomal abnormalities is increased. In cases of apparently isolated SUA there is no evidence of increased risk of chromosomal abnormalities.
Ultrasound in Obstetrics and Gynecology 09/2010; 36(3):291-5. · 3.56 Impact Factor
[show abstract][hide abstract] ABSTRACT: A variable association between single umbilical artery (SUA) and congenital heart disease (CHD) has been reported previously. Discrepancies in the results may be related to the populations studied. In this study we assessed the relationship between SUA and CHD in two well-defined selected and unselected populations.
This was a retrospective review of all cases of SUA detected antenatally in a tertiary referral center between 1997 and 2003. Umbilical arteries were routinely identified around the fetal bladder by color-flow Doppler ultrasonography. The unselected population included pregnancies from a well-defined geographical area, delivering in the same hospital. The selected group was referred from other hospitals because of suspected abnormalities or other risk factors. Major CHD was defined as CHD needing postnatal treatment or long-term follow-up.
There were 10 fetuses with major CHD in the selected group: four cases among 25 with extracardiac defects (16%; 95% CI, 4.5-36.1%) and six cases out of 22 with no other abnormalities (27%; 95% CI, 10.7-50.2%; P = 0.35). In the unselected group there were two cases of major CHD, both among the 13 fetuses with extracardiac abnormalities (15%; 95% CI, 2-45%), while there were no major cardiac defects in the 85 fetuses with SUA and no extracardiac abnormalities (0%; 95% CI, 0-4%; P = 0.03).
The association between SUA and CHD varies dramatically with population selection criteria. The risk for CHD after the detection of SUA in an otherwise apparently normal fetus from an unselected population seems small and may not warrant specialist fetal echocardiography.
Ultrasound in Obstetrics and Gynecology 05/2010; 35(5):552-5. · 3.56 Impact Factor
[show abstract][hide abstract] ABSTRACT: Single umbilical artery (SUA) is a relatively common malformation that may call attention to the possibility of associated malformations (often chromosome aberrations). The current study aimed at surveying malformations associated with SUA on the basis of fetopathological investigations, analyzing the role of history, summarizing the clinically important factors emerging together with this malformation. In this study, we processed the details of 204 cases in which SUA was confirmed fetopathologically after miscarriage or induced abortion between 1990 and 2007. In our sample, SUA occurred in 7.38% of the cases. The history was positive in almost 30% of the cases. The majority of the cases had a positive obstetric and the minority of them a positive genetic history. The highest association of SUA with other malformations was found for craniospinal ones, but an association with cardiovascular malformations should also be mentioned. Regarding the individual types of malformation, SUA was most commonly associated with hydrocephalus, but Potter's sequence, trisomy 21, and atrioventricular septal defect also reached a higher rate in associated SUA. Previously published articles dealing with associated malformations found that urogenital malformations were most commonly associated with SUA. 'Itemizing' the different non-chromosomal malformations in association with SUA, we found that hydrocephalus, Potter's sequence, and atrioventricular septal defect were the most frequent malformations, while in earlier studies, the association with non-chromosomal malformations such as vertebral malformations, imperforated anus, cheilognathopalatoschisis, and renal agenesis occurred more frequently than usual.
Pathology - Research and Practice 08/2008; 204(11):831-6. · 1.21 Impact Factor
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