OP21.04: First trimester diagnosis of SUA-feasibility of the marker, importance in screening for aneuploidies (original) (raw)

Prevalence of prenatal ultrasound diagnosed single umbilical artery in a cohort with associated congenital malformations

Tropical Journal of Obstetrics and Gynaecology

Introduction: Single umbilical artery (SUA), a developmental abnormality of the umbilical cord occurs following primary agenesis or secondary atrophy of one of the arteries. It occurs in 0.08%-2% of pregnancies and associated with intrauterine growth restriction, preterm delivery, stillbirth, and congenital anomalies. Usually, the attending midwife or doctor determines the number of umbilical arteries at delivery. However, with the advent of prenatal ultrasound screening, the umbilical cord vessels can be determined as early as 14 weeks prenatally. The study aimed at determining the prevalence of SUA in University College Hospital (UCH), Nigeria, with associated anomaly (ies). Materials and Methods: This is a prospective cohort study of 989 fetuses who had detailed anomaly scan over 4 years at the ultrasound unit of the antenatal clinic, UCH. Results: Sixty-two fetuses had various anomalies, of which three had SUA, and these cohorts were followed up. The prevalence of SUA was 0.3% in both singleton and multiple gestations. Other anomalies detected with SUA include abnormal-shaped head, hypoplastic cerebellum, bilateral renal pyelectasis, bilateral ventriculomegaly, cavum septum defect, and ventricular septal defect. Conclusion: SUA is more common in twin gestations than in singletons, and if found in a fetus, it is a high risk for other anomalies which must be determined prenatally.

Single umbilical artery: a continuous dilemma and challenge in obstetric management

Clinical and Experimental Obstetrics & Gynecology

Background: The single umbilical artery (SUA), an entity with almost unknown etiology, is still subject to discussion regarding its clinical significance, especially when it is an isolated discovery (iSUA). Methods: This retrospective study focused on the evaluation of fetuses with ultrasound proven SUA during second trimester screening. These fetuses were carefully investigated for other malformations. The respective pregnancies were attentively followed up and the newborns were evaluated confirming SUA. Results: The incidence of SUA was 0.57%, with 34.6% of these fetuses having associated abnormalities being 19.2% cardiovascular, 15.3% gastrointestinal, 11.5% cerebral, 7.6% osteomuscular and 3.8% urogenital. Aneuploidy was present in 8% of these infants. These rates were significantly greater compared with those noticed in ''normal'' three vessels umbilical cord (TVC) fetuses (control group) (p < 0.001). Similar relations were found for the rates of IUGR and/or SGA, polyhydramnios and oligohydramnios (p < 0.001). Interestingly, in iSUA group (65.4% of all SUA cases), only the rate of oligohydramnios was significantly increased compared with the control group (p = 0.038). Furthermore, in a dichorionic diamniotic twin pregnancy, with only one fetus revealing iSUA, the ''affected'' fetus paradoxically weighted more than the ''healthy'' one. Conclusion: We concluded that SUA is an important finding during morphological ultrasound examination. When associated with other anomalies, a fetal karyotype is mandatory due to the increased risk of aneuploidy. Furthermore, the pregnancy should be meticulously monitored in order to promptly diagnose other developmental anomalies associated with abnormalities of the amniotic fluid volume and to detect any anatomical anomalies missed at the initial prenatal evaluation. Finally, we concluded that diabetes mellitus represents a strong favoring condition for SUA with first pregnancy also being a contributor.

Detection of Single Umbilical Artery in the First Trimester Ultrasound: Its Value as a Marker of Fetal Malformation

BioMed Research International, 2014

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 trime...

Retrospective Outcome of 30 Patients Prenatally Diagnosed with Single Umbilical Artery

2021

Normal human umbilical cord contains 2 arteries and a single vein, as the right umbilical vein goes to atrophy during early fetal development. The single umbilical artery (SUA) is characterized by a vein and an artery in the umbilical cord, and more often it is the left artery that is absent. 1 It is one of the most common malformations of the umbilical cord, occurring in one of 200 singleton pregnancies. 2 It has been reported to occur 3-4 times more in twins compared to singleton pregnancies. 3 Although its pathogenesis has not been clarified, 3 basic theories are widely accepted today: 1. Primary agenesis of the umbilical artery, 2. Secondary atrophy or agenesis of the normally developing umbilical artery, and 3. Persistence of the original body stalk allantois artery. In some cases, even though both umbilical arteries were detected during the first trimester ultrasound evaluation, the second trimester ultrasound evaluation can show the absence of an umbilical artery. During the embryological evaluations of some fetuses with a SUA, the residue of an occluded second umbilical artery can be seen to further gain support for the validity of the second theory. 3,4 Risk factors include assisted reproductive techniques, smoking, first pregnancy at a young age or multiparity at an advanced age. 5,6 In English written literature, it has been shown that the risk of structural anomalies, chromosomal disorders and intrauterine growth restriction (IUGR) increases in fetuses with SUA. The most common malformations to occur have been reported in the cardiovascular, gastrointestinal and renal systems. Among chromosomal abnormalities, it has been

Single umbilical artery and perinatal outcome

Gineco.eu, 2015

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.

Single Umbilical Artery and Associated Malformations in Over 5500 Autopsies: Relevance for Perinatal Management

Pediatric and Developmental Pathology, 2010

With a birth prevalence rate of about 1%, single umbilical artery (SUA) is the most frequent of all congenital anomalies. It is recognizably associated with a variety of birth defects, but disagreement exists as to whether a SUA can predict an adverse perinatal outcome; disagreement also exists related to if, when present, other birth defects should be ruled out. The aims of the study were to estimate the association between SUA and other birth defects in a series of perinatal autopsies, to establish if preferential associations between SUA and certain birth defects exist, and to quantify the risks for other birth defects when a SUA is diagnosed. In a series of 5539 perinatal autopsies conducted at the Hospital Materno Infantil Ramón Sardá and the Private Laboratory of Perinatal Pathology, Buenos Aires, Argentina, the rate of each malformation (grouped by organ/system) associated with SUA and the risks of associated malformations were estimated. In this series of autopsies, the rate of SUA showed a 10-fold increase when other malformations were present. The risk for other malformations increased significantly, by a 3-fold to 9-fold measure, when a SUA was present. Urinary and gut anomalies showed a preferential association with SUA. The absence of other birth defects lowered the risk of chromosome anomalies associated with SUA in 56% (odds ratio 5 0.44). These results, obtained from a series of perinatal autopsies, are in agreement with most observations found in the literature, namely, high association rates between SUA and urinary and cardiovascular anomalies as well as a low risk for chromosome anomalies in SUA cases without other malformations.

Ultrasonographic detection of single umbilical artery: a simple marker of fetal anomaly

International Journal of Gynecology & Obstetrics, 1997

To detect associated anomalies, karyotypes and perinatal prognosis of fetuses with single umbilical artery. Fifteen fetuses who have single umbilical artery were evaluated in the obstetrical ultrasonography and medical genetics departments of Osmangazi University. Fifteen fetuses with single umbilical artery were detected during antenatal ultrasonographic examinations. Associated sonographic abnormalities include oligohydramnios (two), intrauterine growth retardation (one), renal agenesis (one), fetal ascites (one), diaphragmatic hernia (one), hydrocephalus (two), and meningomyelocele (one). Complications related to the pregnancy were pre-eclampsia in one case and abruptio placenta in another. Karyotype analysis was available in 11 cases and the only cytogenetic abnormality detected was trisomy 18 in one case. Two cases with hydrocephalus and single umbilical artery were delivered by cesarean section at 34 and 38 weeks, but both died (on the first and fifth days after birth). Five pregnancies were terminated because of intrauterine death (one), severe pre-eclampsia (one), cytogenetic abnormality (one), and multiple congenital anomalies associated with single umbilical artery (two) at 36, 27, 22, 26 and 29 weeks, respectively. Eight of the neonates who had no additional congenital or cytogenetic abnormality were completely normal at birth and during the neonatal period. Diagnoses were confirmed pathologically in all cases. Scanning the umbilical cord should be one of the essential parts of ultrasonographic examination. When single umbilical artery is detected, a detailed ultrasonographic examination is necessary to rule out associated abnormalities. We advise fetal karyotyping even when no additional pathology can be detected on ultrasonographic examination.

Single Umbilical Artery (SUA)-prenatal sonography diagnosis and vascular imaging features postnatal cord: a case report

2021

Single Umbilical Artery (SUA) prenatal sonography diagnosis and vascular imaging features postnatal cord: a case report I Nyoman Hariyasa Sanjaya1*, Cokorda Istri Mirayani Pemayun2, Ni Wayan Dewi Purwanti3, Made Diah Vendita Sakuntari3, Ni Putu Nining Gianni3, Ni Luh Made Diah Mas Cahyani Putri3, Ni Komang Anik Pirgantari3, Ni Luh Md Dwi Laxmi Satriani3, Firsta Sesarina Mintariani3, Ni Luh Putu Yulia Padmawati3, Anak Agung Wahyu Putri3 Background: Single umbilical artery (SUA) is a rare presentation in obstetrics practice, yet it comprises most of the umbilical anomaly. Despite its rare occurrence, a proper prenatal diagnosis needs to be established timely in order to prevent morbidity and mortality from commonly coexisting abnormalities. This case report presents a delayed diagnosis of SUA by prenatal sonography diagnosis and vascular imaging features postnatal cord at the third trimester of pregnancy and discusses the proper diagnosis and management of such cases. Case Presentatio...

Prenatal diagnosis of single umbilical artery complicated by intrauterine growth retardation and preterm labor: Case report

Journal of family medicine and primary care, 2019

Purpose The objective of this study is to report the incidence of single umbilical artery (SUA) on prenatal diagnosis and formulate protocol for counselling and its management in Indian scenario. Method A total of 1024 cases were screened for Single umbilical artery (SUA) between 12 and 20 weeks gestation during the 1 year period from May 2016 to April 2017. Targeted anomaly scan was performed for all cases at 18-20 weeks. Those with additional structural anomalies were subjected to invasive genetic testing. Serial growth monitoring starting from 28 weeks was done. Results Out of ten cases diagnosed with SUA, five had isolated SUA. Two out of five cases of isolated SUA developed FGR in third trimester. Out of the remaining, three cases with additional structural anomalies had normal foetal karyotype, whereas other two cases showed chromosomal abnormalities (12pder and trisomy 18). Conclusion Targeted anomaly scan is must in all cases of SUA. Invasive genetic testing must be offered in case of associated anomalies. Serial growth monitoring in third trimester is an important part of protocol. Keywords Prenatal Á Single umbilical artery Á Counselling Á Management Á India She is working as a Consultant Fetal Medicine at Paras Bliss Fetal Medicine Centre, Paras Bliss hospital, Panchkula (near Chandigarh).