Detection Of Single Umbilical Artery Research Articles

Prenatal ultrasonographic manifestations of partial trisomy 12q(12q24.2→qter) and partial monosomy 2q (2q37.3→qter)

Introduction. Partial trisomy of chromosome 12 long arm is rare condition with significant clinical impact and is usually diagnosed postnatally. Case report. We present prenatal sonographic findings and molecular cytogenetic characterization of partial trisomy 12q and partial monosomy 2q in two consecutive pregnancies of a healthy non-consanguineous couple. A 35-year-old pregnant woman G3P1A1 was referred to genetic counseling due to sonographic anomalies detected in the fetus. First trimester ultrasound examination revealed hyperechogenic focus in the left cardiac ventricle, single umbilical artery, hyperechogenic bowel and unilateral clubfoot with knee joint ankylosis. Previous pregnancy of the couple was terminated at 26th gestation weeks due to multiple fetal anomalies: bilateral ventriculomegaly, corpus callosum hypoplasia, single umbilical artery and clubfoot. In G3P1A1, amniocentesis was performed and cytogenetic analyses revealed a derivative chromosome 2. Subsequent cytogenetic analyses of parental lymphocytes showed that paternal karyotype was normal, while maternal karyotype showed a der(2). Metaphase fluorescence in situ hybridization (FISH) studies demonstrated partial trisomy 12q24.2?12qter and partial monosomy 2q37.3?2qter in the fetus, resulting from an unbalanced segregation of a maternal balanced translocation t(2;12)(q37.3;q24.2). To date, this is the first such prenatally detected case. Literature search revealed three more cases of prenatally detected partial trisomy 12q and anomalies described were consistent with ones detected in present case. Our findings contribute to further clinical delineation of partial trisomy 12q. Conclusion. Prenatal detection of single umbilical artery, clubfoot, arthogryposis and ventriculomegaly should alert suspicion to chromosome 12q aberrations.

Особливості перебігу вагітності за наявності єдиної пупкової артерії плода

Among the abnormalities in the number of umbilical cord vessels, the single umbilical artery (SUA) is most common. The influence of some endocrine, gynecological and general factors on the occurrence of SUA, the detection of SUA at different stages of pregnancy, as well as the effect of SUA on the course of pregnancy and the condition of the fetus are assumed. In most cases, according to different data – 57–75%, SUA is an isolated change and does not affect the course of pregnancy and childbirth, as well as the postnatal period. Other authors see a significant impact of SUA on the course of such pregnancy and childbirth. The article presents some features of the course of pregnancy with SUA compared with pregnant women with three umbilical cord vessels and physiological labor in the future. The objective: to study and analyze the peculiarities of pregnancy with SUA, to conduct a comparative description of the revealed features with such indicators among pregnant women with three umbilical cord vessels. Materials and methods. 31 pregnant with a single umbilical artery of the fetus (study group), 62 pregnant with 2 umbilical arteries of the fetus (control group). Results. In pregnant women with SUA, increased body weight, first blood group, and diseases of insulin-dependent diabetes mellitus were observed with greater frequency. In the history of pregnant women with SUA, artifactual abortions, spontaneous miscarriages, or missed pregnancies are more common than pregnant women who have two umbilical arteries of the fetus. Among pregnant women with SUA during pregnancy, the risk of miscarriage, fetal growth retardation, placental dysfunction, polyhydramnios, gestational diabetes and the threat of premature birth are significantly more common. Premature birth occurs in 12.9% of pregnant women with SUA. The reverse blood flow in the venous duct, detected by ultrasound at 12–13 weeks of gestation, was detected in 19.4% of pregnant women with EPA. According to Doppler, when comparing pregnant women with fetal EPA and two umbilical arteries, there are true negative changes in the direction of increased peripheral vascular resistance (according to the blood flow velocity in the aorta of the fetus) and a tendency to centralize blood circulation (according to cerebro-aortic index) in fetuses with SUA. The average Doppler indices of other vessels of the placental complex do not differ between the two studied groups of pregnant women. According to hormonal studies in pregnant women with SUA at the end of the first trimester of pregnancy in 26.8%, rates of PAPP-A were higher than the reference values (in the control group – 6.4%). Conclusions. Identified features among pregnant women with SUA, such as increased body weight, first blood group, diseases of insulin-dependent diabetes mellitus and a significant number of spontaneous miscarriages and missed abortion in history, can be cumulative risk factors for the occurrence of SUA. Among pregnant women with SUA during pregnancy, the threat of miscarriage, fetal growth retardation, placental dysfunction, polyhydramnios, gestational diabetes and the threat of premature birth are significantly more common. Premature birth occurs in 12.9% of pregnant women with EPA. In the period of 12-13 weeks, the reverse blood flow in the venous duct can be considered a marker of SUA. The features we found in terms of Doppler metrics indicate true negative changes in the direction of increasing peripheral vascular resistance (according to the blood flow velocity in the aorta of the fetus) in fetuses with SUA. An increase in PAPP-A can serve as a marker of the presence of SUA in the fetus in early pregnancy. Key words: single umbilical artery, fetal growth retardation, placental dysfunction, polyhydramnios, gestational diabetes, venous duct, dopplerometry, PAPP-A.

Особливості деяких ультразвукових показників у вагітних з єдиною пупковою артерією плода

The single umbilical artery (SUA) is considered an independent risk factor for perinatal complications. The influence of some endocrine, gynecological and general factors on the occurrence of SUA, the detection of SUA at different stages of pregnancy, and the effect of SUA on the fetal and placental state are assumed. The article presents some features of ultrasound indicators at different trimesters of pregnancy with SUA compared with pregnant women with three umbilical vessels and physiological births in the future. The objective: is to study and analyze some ultrasound indices of the fetus and placenta at different trimesters of pregnancy with SUA, to conduct a comparative characteristic of the revealed features with such indices in pregnant women with three umbilical vessels. Materials and methods. 31 pregnant women with a single umbilical artery of the fetus (study group), 62 pregnant women with 2 umbilical cord blood arteries (control group). Results. In our study in 6 patients (19.4%) of pregnant women with SUA during ultrasound scanning at 12–13 weeks of pregnancy reverse flow in the venous duct was found. According to doplerometry, the flow rate in the fetal aorta in pregnant women with SUA is definitely less than that of the control group, although it does not exceed the normal values. There is a tendency to a greater importance of the cerebroortal index among pregnant women with SUA. Conclusions. In the 12-13 week period, reverse flow in the venous duct can be considered an SUA marker. According to the data of doplerometry in pregnant women with SUA fetuses, there are slight negative changes in the direction of increasing peripheral vascular resistance (according to the blood flow velocity in the fetal aorta) and the tendency to centralize the blood circulation (according to the cerebroortical index). Key words: single umbilical artery, venous duct, doplerometry, cerebroortal index.

Single umbilical artery: prenatal detection rate in the first and second trimesters of gestation

Objectives. To determine accuracy of first and second trimesters detection of single umbilical artery (SUA). Materials. A retrospective study was carried out on 151 cases of SUA between January 2014 and December 2017 in prenatal diagnosis centre. The number of vessels in the umbilical cord was examined in the first and second trimesters using сolour Doppler. Results. Detection rate of prenatal ultrasound diagnosis of SUA in the first trimester was 85,7%, at 14– 22 weeks – 98,2% and 100% after 22 weeks of gestation. Conclusions. Detection rate of prenatal ultrasound diagnosis of SUA in the first and second trimesters in a prospective unselected population was good. Diagnosis of isolated SUA as well as a definitive judgment about the presence of associated anomalies would still require a scan in the first and second trimesters.

EP08.06: Detection of single umbilical artery at 11–13 weeks scan: the accuracy of method and the importance as a marker of fetal malformation

EP08.06: Detection of single umbilical artery at 11–13 weeks scan: the accuracy of method and the importance as a marker of fetal malformation

Single umbilical artery and perinatal outcome

A major role in the pregnancy routine ultrasound examination is played by the investigation of the umbilical cord (the identification of the number of vessels). The detection of a single umbilical artery (SUA) is a marker for aneuploidy, low birth weight and congenital anomalies. The presence of this anomaly can be associated with adverse perinatal outcome, compared to fetuses with normal cord thus making imperative the proper antepartum ultrasound examination. In our study we presented a review of epidemiology, pathogenesis and current diagnostic of SUA syndrome with predilection on 4 cases of SUA complicated with intrauterine growth restriction and 12 cases with isolated SUA. The 16 cases were evaluated in our Clinical Hospital of Obstetrics and Gynecology ”Dr. I.A. Sbarcea” Brasov from Romania. It was observed that SUA and isolated SUA increase the risk for adverse perinatal outcomes. Therefore the detection of SUA is important for the prenatal diagnosis of congenital defects and aneuploidy. To improve the adverse perinatal outcomes, the surveillance of fetuses with isolated SUA has a major role. Even if a SUA is a relatively rare finding, when is detected, a serious search for associated malformation needs to be undertaken.

P01.13: Detection of single umbilical artery in first trimester ultrasound: its value as a marker of fetal malformation

<scp>P</scp>01.13: Detection of single umbilical artery in first trimester ultrasound: its value as a marker of fetal malformation

Detection of single umbilical artery in the first trimester ultrasound: its value as a marker of fetal malformation.

Introduction. The value of a single umbilical artery (SUA) in first trimester ultrasound is not well established. The aim of our study was to determinate the relevance of diagnosis of single umbilical artery in first trimester ultrasound as an early marker suggesting the presence of malformations or associated chromosomopathies. Material and Methods. Retrospective study of clinical cases of SUA diagnosed at the University Hospital Puerta de Hierro in Madrid (Spain) during the first trimester ultrasound between September 2008 and September 2012. Results. Prevalence of SUA was 1.1% in single pregnancies and 3.3% in twin pregnancies. Sensitivity, specificity, false positive rate, and false negative rate for the finding in the first trimester were 84.2, 99.8, 0.2, and 15.7%, respectively. 17.6% of cases had associated malformations. With an ultrasound in the 16th week most of the cases with significant fetal malformation were diagnosed. Discussion. SUA is a useful marker in the first trimester for fetal malformation pathology, as it will allow detecting a large number of cases with malformations before 20 weeks of gestation.

Antenatal detection of single umbilical artery: what does it mean?

Introduction: The presence of a single umbilical artery (SUA) is recognised as a soft marker for congenital anomalies, aneuploidy, earlier delivery and intra-uterine growth restriction and/or low birth weight. The aim of this study was to assess the incidence of SUA in a selected population. And secondly, to examine the clinical signiÞ cance of this soft marker. Material and methods: A retrospective analysis, over a 36-month period, of all cases of pregnancy interruption due to medical causes, up to 16 weeks of gestation, with prenatal diagnosis of SUA; cases of live born with a prenatal diagnosis of SUA or after delivery, at the routine examination of the placenta. Fetal growth and the risk of preterm labor are also to consider in the surveillance of these pregnancies. Results: Thirty nine cases of SUA were identiÞ ed during the study period. Incidence of SUA in live born was 0.32% (n=30) and in pregnancy interruption due to medical causes was 12.9% (n=9). The antenatal detection rate was 77%. This ecographic soft marker was an isolated Þ nding in 27 live born (90%). In live born with SUA and associated malformations (13.3%), urinary abnormalities were identiÞ ed in three cases (75%), and a skeletal with esophageal malformation was identiÞ ed in one case (25%). Preterm birth occurred in seven cases (23.3%) and birth weight below 10 th percentile in four cases (13.3%). Discussion and conclusions: The presence of SUA in antenatal period should alert the sonographer and clinician for the need of a detailed examination of the fetus to exclude other anomalies. Fetal growth and the risk of preterm labor are also to consider in the surveillance of these pregnancies.

Ultrasound detection rate of single umbilical artery in the first trimester of pregnancy

To determine accuracy of first trimester detection of single umbilical artery (SUA). The number of vessels in the umbilical cord was examined in a prospective cohort of 779 singleton, low-risk, unselected pregnancies, in the first (11-13 weeks) and second (17-24 weeks) trimesters, using both power and color Doppler and after delivery, by placental histopathologic exam. Concordance between first and second trimester findings to postnatal diagnoses was compared by calculating kappa coefficients. There was medium concordance between the findings in the first trimester and the postnatal diagnoses (kappa = 0.52) and high concordance (kappa = 0.89) for the second trimester scan. Sensitivity, specificity, positive and negative predictive values for the findings in the first trimester were 57.1, 98.9, 50.0 and 99.2% and for the second trimester were 86.6, 99.9, 92.9 and 99.7%. Sensitivity and positive predictive value of first trimester scan to identify an isolated SUA in a prospective unselected population was poor. Diagnosis of isolated SUA as well as a definitive judgment about the presence of associated anomalies would still require a scan in the second trimester.

Single umbilical artery and congenital heart disease in selected and unselected populations

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.

OC159: Complicated gastroschisis ‐ can prenatal ultrasound predict outcome?

Objectives: To determine the possible association between single umbilical artery (SUA) in the second trimester and the incidence of fetal aneuploidy (T21,13&18) and other malformations. To report the incidence of associated perinatal mortality. Methods: Colour flow imaging undertaken between20–23 weeks of gestation during routine scan in 49,698 cases in two tertiary referral centres between the period of 2000–2007. Referred cases for second opinion have been excluded as well as Fetuses diagnosed with single umbilical artery and no other anomalies or markers (isolated SUA). Retrospective analysis of associated aneuploidy, malformations and intrauterine deaths (IUD). Results: SUA was diagnosed in 219/49698 (0.44%). Among the 219 fetuses with SUA, 156 (71.2%) had no associated markers or anomalies and 63 (28.2%) had associated findings. 31/63 (49.2%) fetuses had only soft markers (one or two). 32/63 (50.8%) had associated anomalies (at least one structure defect). 8/63 (12.7%) fetuses had aneuploidy (4 cases of T18, 3 cases of T13, one case with unbalanced translocation 18-Y). 55/63 (82.5%) fetuses had structure anomalies of which 13/63 (20.6%) had multiple anomalies (>3 anomalies).14/63 (22.2%) had cardiac anomalies, 8/63 (12.7%) had CNS anomalies, 6/63 (9.5%) had renal anomalies (3cases of hydronephrosis, 2cases of renal agenesis and one case of multicystic dysplastic kidney). 4/63 (6.3%) had cleft palate, 4.8% had skeletal anomalies, 3.2% had NTD, and 2/63 (3.2%) had diaphragmatic hernia. Perinatal mortality rate reported in 14/63 (22.2%). 10 fetuses had intrauterine death while 4 fetuses were terminated. Conclusion: This case series of unselected population indicate high association of aneuploidy in particular T18 and T13 and many other structure anomalies. No case of T21 was detected. We conclude that second trimester sonographic detection of SUA and other findings is not associated with increased risk of T21.

OC158: Association of single umbilical artery with aneuploidy, congenital malformations and perinatal outcome: Findings in 49,698 unselected pregnant women

Objectives: To determine the possible association between single umbilical artery (SUA) in the second trimester and the incidence of fetal aneuploidy (T21,13&18) and other malformations. To report the incidence of associated perinatal mortality. Methods: Colour flow imaging undertaken between20–23 weeks of gestation during routine scan in 49,698 cases in two tertiary referral centres between the period of 2000–2007. Referred cases for second opinion have been excluded as well as Fetuses diagnosed with single umbilical artery and no other anomalies or markers (isolated SUA). Retrospective analysis of associated aneuploidy, malformations and intrauterine deaths (IUD). Results: SUA was diagnosed in 219/49698 (0.44%). Among the 219 fetuses with SUA, 156 (71.2%) had no associated markers or anomalies and 63 (28.2%) had associated findings. 31/63 (49.2%) fetuses had only soft markers (one or two). 32/63 (50.8%) had associated anomalies (at least one structure defect). 8/63 (12.7%) fetuses had aneuploidy (4 cases of T18, 3 cases of T13, one case with unbalanced translocation 18-Y). 55/63 (82.5%) fetuses had structure anomalies of which 13/63 (20.6%) had multiple anomalies (>3 anomalies).14/63 (22.2%) had cardiac anomalies, 8/63 (12.7%) had CNS anomalies, 6/63 (9.5%) had renal anomalies (3cases of hydronephrosis, 2cases of renal agenesis and one case of multicystic dysplastic kidney). 4/63 (6.3%) had cleft palate, 4.8% had skeletal anomalies, 3.2% had NTD, and 2/63 (3.2%) had diaphragmatic hernia. Perinatal mortality rate reported in 14/63 (22.2%). 10 fetuses had intrauterine death while 4 fetuses were terminated. Conclusion: This case series of unselected population indicate high association of aneuploidy in particular T18 and T13 and many other structure anomalies. No case of T21 was detected. We conclude that second trimester sonographic detection of SUA and other findings is not associated with increased risk of T21.

The Value of Single Umbilical Artery in the Prediction of Fetal Aneuploidy

To assess the risk of the association of single umbilical artery and aneuploidies. In a general unselected obstetric population of 12,672 singleton pregnant women from January 1998 to December 2002, we detected 61 fetuses (prevalence, 0.48%) with single umbilical artery (SUA) on prenatal ultrasound at 16 to 23 menstrual weeks. Among the 61 fetuses with 2-vessel cord, 39 (64%) had SUA as an isolated finding, and 22 (36%) had additional findings, either minor or major. One (2.56%) of the 39 fetuses with SUA as an isolated finding had aneuploidy (trisomy 21 at maternal age of 32 years), whereas 5 (41.6%) of the 12 fetuses with SUA concomitant with major anomalies were aneuploid. None of the 10 fetuses with SUA and minor anomalies had aneuploidy. Among the 12,611 women with 3-vessel cord, we instead found 8 cases of trisomy 21 (0.06%), 1 case of translocation 14-21 (0.007%), 5 cases of trisomy 18 (0.04%), 1 case of trisomy 13 (0.007%), 1 case of 47,XXX (0.007%), and 2 cases of monosomy X (0.01%). In an unselected population, second trimester sonographic detection of SUA and major fetal anomalies indicate increased risk for fetal aneuploidy. However, even if this study is based on a large population, the only 1 case of trisomy 21 among the fetuses with SUA as an isolated finding is not sufficient to draw a conclusion, and larger studies are needed to confirm or infirm this single case.

Características de los neonatos con y sin arteria umbilical única. Análisis de dos series consecutivas de recién nacidos con y sin defectos congénitos

Background and objective The implications of the presence of a single umbilical artery (SUA) are unknown. Although most articles are based on selected samples, they suggest a relationship between SUA and malformations. Consequently, prenatal detection of SUA causes concern, since there are no definitive guidelines that can be followed after identification of this abnormality. The objective of this study was to comparatively analyze SUA in two series of consecutive births, with and without congenital defects. Patients and methods A total of 19,909 cases and 19,148 controls from the Registry of the Spanish Collaborative Study on Congenital Malformations were studied. The variables analyzed were sex, birth weight, length, occipito-frontal circumference, gestational age, prematurity, delivery by caesarean section, umbilical cord length, placental weight, survival at 72 hours, primiparity, oligohydramnios, and polyhydramnios. Calculations included relative frequency, odds ratios (OR) and 95 % confidence intervals, the chi-square test, Fisher's p-value, and Student's t-test. Results SUA was found in 2.29 % of cases and in 1.03 % of controls (p = 0.0000001). These figures showed secular variation due to improvements in prenatal diagnosis and interruption of some pregnancies. When cases with and without SUA were compared, those with SUA had lower values of somatometry at birth, umbilical cord length and gestational age and had a higher risk for oligohydramnios, polyhydramnios, caesarean section, and death in the first 72 hours. Among controls, the only differences were a shorter umbilical cord and a higher frequency of oligohydramnios among infants with SUA. Conclusions The results suggest that certain malformations associated with SUA could cause some of the differences among cases. Shortening of the umbilical cord and oligohydramnios could be related to SUA, as these abnormalities were found in both cases and controls. Comparison of cases and controls suggests that the etiopathogenesis of SUA could differ in the two groups.

P04.15: Prenatal detection of single umbilical artery: accuracy of ultrasound and prediction of outcome

P04.15: Prenatal detection of single umbilical artery: accuracy of ultrasound and prediction of outcome

Single umbilical artery. Prenatal detection of concurrent anomalies.

Prenatal sonographic findings were reviewed in 30 fetuses with a single umbilical artery (SUA) to determine the reliability of ultrasound for detecting concurrent anomalies. Additional anomalies were identified in 15 fetuses, including 3 fetuses with minor anomalies and 12 fetuses with major or multiple concurrent anomalies. Minor anomalies observed in 3 fetuses included 1 case each of pelvic kidney, unilateral absent kidney, and mild cerebral ventricular dilatation. Major abnormalities detected in 12 fetuses involved a variety of organ systems and included cardiac defects, holoprosencephaly, skeletal dysplasia, hydrocephalus, omphalocele, hydrothorax, enlarged cisterna magna, and diaphragmatic hernia. Clinical and pathologic correlation showed that all fetuses were correctly categorized regarding the presence of other anomalies; none of the 15 fetuses in whom an SUA was considered an isolated finding had a significant anomaly at birth. Chromosome abnormalities were found in 6 of 12 fetuses with major abnormalities but in none of the 18 remaining fetuses. We conclude that prenatal ultrasound can reliably identify major concurrent anomalies in fetuses with SUA. In the absence of additional anomalies, prenatal detection of SUA should not alter obstetric management.

Antenatal sonographic detection of single umbilical artery

The absence of one umbilical artery of single umbilical artery (SUA) is one of the most common congenital malformations in man. This vascular anomaly of the umbilical cord is frequently associated with other congenital malformations as well as some adverse perinatal events such as intrauterine growth retardation (IUGR), premature delivery, and increased perinatal mortality. Five cases of SUA detected prenatally by ultrasound are reported here in detail, including the first reported case in a twin gestation. None of the 5 affected infants had associated anomalies, but 2 cases of intrauterine growth retardation (IUGR) and 1 stillborn infant were noted in this series. An umbilical vein/umbilical artery ratio less than 2 was invariably found in all cases, making this observation another useful sonographic characteristic to use in the antenatal detection of SUA. Since the umbilical cord can be easily seen prenatally by ultrasound, and SUA is recognized as an important index for detecting congenital malformations, examination of the umbilical cord for the absence of one umbilical artery is an extremely valuable tool in prenatal diagnosis. The prenatal detection of SUA demands an extensive search for associated anomalies and a close surveillance of fetal well-being, since these fetuses have a high risk of fetal death or IUGR. Sonologists and sonographers should be aware of the possibility of SUA, especially in those cases associated with congenital malformations or IUGR.