Diagnosis of single umbilical artery and risk of foetal congenital malformations by prenatal ultrasound: a retrospective study.

BACKGROUND: Single umbilical artery (SUA) is strongly associated with foetal structural abnormalities; however, the exact pattern of this association has not been described. We aimed to investigate the occurrence of malformations in singleton pregnancies with SUA in China and to study the association between the absent side of the umbilical artery and foetal malformations. METHODS: This was a retrospective study of singleton pregnancies for which routine first-trimester anatomical screening was performed at 11+ 0-13+ 6 gestational weeks and, if the pregnancy continued, a second-trimester scan was performed at 20+ 0-24+ 0 weeks. Data were extracted from records at the referral centre, the Obstetrics and Gynecology Hospital of Fudan University, between January 2011 and April 2019 (n = 47,894). Using logistic regression, the odds ratios (OR) with 95% confidence intervals (CIs) were calculated for malformations associated with SUA. RESULTS: The incidence of SUA in our study was 2.0% (970/47,894). Of all foetuses with SUA, 387 (39.9%) had structural malformations. The malformation type varied, with cardiovascular complications being the most common. A robust association was observed between SUA and oesophageal stenosis or atresia (OR: 25.33), followed by cardiovascular (OR: 9.98-24.02), scoliosis (OR: 18.62), genitourinary (OR: 2.45-15.66), and brain malformations (OR: 4.73-9.12). The absence of the left umbilical artery (n = 445, 45.9%) was consistent with that of the right umbilical artery (n = 431, 44.4%). Furthermore, a significantly higher rate of an absent right than the left umbilical artery (p<0.01) was observed in SUA with foetal abnormalities than in SUA with no malformations. CONCLUSIONS: Overall, we observed a higher risk of various specific malformations in foetuses with SUA, and a strong association between SUA and oesophageal stenosis or atresia. The absence of the right umbilical artery was most common in foetuses with SUA and structural malformations. This study provides a reference for ultrasonographers in conducting foetal structural screening for pregnant women with SUA.

A case report of single umbilical artery combined with fetal bladder exstrophy in singleton pregnancy and related literature review.

BACKGROUND: According to prenatal ultrasonographic studies, single umbilical artery may be present alone or in association with other fetal abnormalities. So far, the exact pathogenesis of bladder exstrophy is unclear. Some scholars believe that bladder exstrophy and cloacal exstrophy should be regarded as a disease spectrum to explore their pathogenesis. If bladder exstrophy and cloacal exstrophy are regarded as the same disease spectrum, then we can speculate that the single umbilical artery should have the probability of being accompanied by bladder exstrophy at the same time. CASE PRESENTATION: For the first time, we report a rare case of fetal bladder exstrophy with single umbilical artery in single pregnancy. This patient underwent targeted color Doppler ultrasound at 26 weeks of pregnancy which first suspected bladder exstrophy with single umbilical artery and fetal MRI for diagnosis at 38 + 3 weeks of pregnancy which confirmed the suspicion. After the diagnosis was confirmed, the patient was scheduled for a multidisciplinary discussion. Ultimately the patient opted for induced fetal demise at 38 + 5 weeks of pregnancy and the physical appearance of the fetal demise affirmed previous ultrasound and MRI examination results. CONCLUSIONS: Our report is the first finding of single umbilical artery combined with bladder exstrophy in a singleton pregnancy. Accordingly, our case enhances the evidence that cloacal exstrophy and bladder exstrophy should be treated as the same disease spectrum. In addition, we conducted a literature review on the diagnostic progress of single umbilical artery combined with bladder exstrophy, hoping to provide useful references for the diagnosis of this disease.

Umbilical artery thrombosis risk factors and perinatal outcomes.

PURPOSE: The purpose of this study was to investigate the risk factors for umbilical artery thrombosis (UAT) and the relationship between umbilical artery thrombosis and perinatal outcomes. METHODS: This was a retrospective study that enrolled singleton pregnant women who were diagnosed with umbilical artery thrombosis. The control group recruited pregnant woman with three umbilical vessels or those with isolated single umbilical artery (iSUA) who were matched with umbilical artery thrombosis group. The risk factors and perinatal outcomes were compared between the groups. RESULTS: Preconception BMI (OR [95%CI]: 1.212 [1.038-1.416]), abnormal umbilical cord insertion (OR [95%CI]: 16.695 [1.333-209.177]) and thrombophilia (OR [95%CI]: 15.840 [1.112-223.699]) were statistically significant risk factors for umbilical artery thrombosis. An elongated prothrombin time (OR [95%CI]: 2.069[1.091-3.924]) was strongly associated with the occurrence of UAT. The risks of cesarean delivery, preterm birth, fetal growth restriction, neonatal asphyxia, and intraamniotic infection were higher in pregnancies with UAT than in pregnancies with three umbilical vessels or isolated single umbilical artery (P<0.05). Additionally, the incidence of thrombophilia was higher in pregnant women with umbilical artery thrombosis than those with isolated single umbilical artery (P = 0.032). Abnormal umbilical cord insertion was also found to be associated with an elevated risk of iSUA (OR [95%CI]: 15.043[1.750-129.334]). CONCLUSIONS: Abnormal umbilical cord insertion was the risk factor for both umbilical artery thrombosis and isolated single umbilical artery. The pregnancies with umbilical artery thrombosis had a higher risk of the adverse perinatal outcomes.

Single Umbilical Artery Umbilical Cord Is Associated With High-Grade Distal Fetal Vascular Malperfusion.

PURPOSE AND CONTEXT: Umbilical cord abnormalities with clinical signs of cord compromise are frequently associated with fetal vascular malperfusion (FVM). Single umbilical artery (SUA) has been reported to be associated with high-grade FVM in fetal growth restriction but not in an unselected population; our study aimed to address this issue. METHODS: Clinical and placental phenotypes of 55 consecutive placentas with SUA (Group 1) were compared with those of 655 placentas with 3-vessel umbilical cord (Group 2) from patients who were in the second half of their pregnancy. The placentas were histologically examined using hematoxylin and eosin (H&E) staining and CD 34 immunostaining. KEY RESULTS: Several umbilical cord phenotypes and high-grade distal FVM, based on H&E staining and endothelial fragmentation by CD34 were significantly more common in Group 1, whereas decidual clusters of multinucleate trophoblasts were more common in Group 2. Notably, H&E staining or CD34 immunostaining evaluated separately showed that high-grade distal FVM was more common in Group 1 than in Group 2, but the difference was not statistically significant. CONCLUSIONS: SUA predisposes to remote, advanced, and recent high-grade distal villous FVM, with a pathogenesis partly different from that of stasis-induced FVM, likely related to fetal anomalies associated with SUA.

Pregnancy and umbilical cord pathology: structural and functional parameters of the umbilical cord.

Scientific research in the field of physiology and pathology of the umbilical cord is quite limited and imperfect. The purpose of the study was to evaluate the histological architecture of the pathological umbilical cord and investigate the relationship between the main parameters and placental postnatal macromorphometric characteristics, which serve as a reflection of placental dysfunction. Four groups of patients were included, each undergoing a postnatal histological and topographic examination of the umbilical cord: Wharton's jelly edema (10 samples), velamentous cord insertion (10 samples), single umbilical artery (10 samples), and physiological pregnancy (10 samples). Compared to the control group, all newborn groups exhibited changes in umbilical vessel morphology, characterized by an increased Wagenworth index and a decreased Kernohan index. The functional indices of the umbilical vessels were found to be most severely affected in cases of Wharton's jelly edema. In cases of single umbilical artery, the changes in vascular functional parameters indicated their compensatory remodeling with the highest Wagenworth and Kernohan indices of the umbilical vein. Deviation from the normal average placental weight was observed in cases of Wharton's jelly volume pathology or velamentous cord insertion. However, in the case of a single umbilical artery, there were no significant deviations in the macromorphometry of the placenta.

Risk of adverse pregnancy outcome in isolated single umbilical artery diagnosed at the mid-trimester anomaly scan: a large Danish retrospective cohort study.

OBJECTIVE: To examine the association of isolated single umbilical artery (iSUA) confirmed at the mid-trimester anomaly scan and adverse pregnancy outcome and congenital malformations with up to 10 years postnatal follow up. METHODS: This retrospective cohort study included 116,501 singleton pregnancies consecutively enrolled in first trimester screening for aneuploidies and mid-trimester anomaly scan at three University Hospitals in the Capital Region of Copenhagen, Denmark.Data from the Danish Fetal Medicine Database (2008-2017) were verified by manually scrutinizing pre- and postnatal records. The main outcomes of interest were intrauterine fetal demise (IUFD), small for gestational age (SGA), preterm delivery, cesarean section and unrecognized pre- and postnatal congenital malformations. RESULTS: In total, 775 pregnancies with iSUA were identified. Isolated SUA were associated with a significantly increased risk of IUFD (OR 4.16, 95% CI 2.06-8.44), SGA < 3rd centile (aOR 2.41, 95% 1.85-3.14) and SGA < 10th centile (aOR 1.84, 95% CI 1.53-2.21), but not with preterm delivery or cesarean section. The laterality of the missing artery was not associated with SGA. In total, 4.3% of pregnancies with iSUA had unrecognized congenital malformations. 1.5% with iSUA had congenital cardiovascular malformations, which were considered minor. CONCLUSION: Isolated SUA is associated with IUFD and SGA, supporting surveillance during third trimester. If, during the mid-trimester scan, the sonographer achieves thorough, extended cardiac views and finds no additional malformation other than SUA, fetal echocardiography seems not to be needed.

Normal umbilical artery doppler values in 18-22 week old fetuses with single umbilical artery.

Umbilical cord with a single umbilical artery (SUA) can carry twice the blood volume of a three-vessel cord (TVC). So, the normal hemodynamics of the fetuses with SUA was different from those with TVC. Furthermore, structural abnormalities, fetal aneuploidy, and intrinsic growth retardation may be associated with the presence of a SUA. In order to evaluate these patients, intermittent doppler measurements have been suggested. From this point, we aimed to determine the CDUS flow parameters in SUA cases and to demonstrate that these flow parameters are different from the TVC parameters. Ultrasound (US) examinations were performed in the 18-22 weeks of gestation during routine fetal anatomy screening. Resistance index (RI), Pulsatility index (PI), and S/D: systole to diastole ratio values were measured. The samples were taken from the proximal, mid-portion, and distal of the umbilical cord. In addition to Doppler Ultrasound values, AC and estimated fetal weight (EFW) values were also recorded. The study included 167 pregnant women, 86 of whom were study group with SUA and 81 were control group with TVC. The measurements of RI, PI, and S/D at all three levels were significantly lower in the SUA group compared to the TVC group. The resistance in the UA of fetuses with SUA is lower than in fetuses with TVC. The resistance in the UA of fetuses with SUA decreases from the fetal end to the placental end. Knowing the normal values for fetuses with SUA might provide a better and more reliable Doppler Ultrasoundassessment.

Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System.

OBJECTIVE: To report associated congenital anomalies with unexplained craniofacial microsomia (CFM) and the phenotypic overlap with other recurrent constellations of embryonic malformations (RCEM), and to assess prenatal and perinatal risk factors. STUDY DESIGN: This is a retrospective cross-sectional study. Cases with CFM, delivered between January 1, 1997, and December 31, 2019, were abstracted from the population-based Alberta Congenital Anomalies Surveillance System. Livebirths, stillbirths, and early fetal losses were reviewed to include all types of pregnancy outcomes along the spectrum of this condition. Prenatal and perinatal risk factors were compared with the Alberta birth population to assess differences between the 2 groups. RESULTS: There were 63 cases with CFM, yielding a frequency of 1 per 16 949. There was a high rate of cases (65%) with anomalies outside the craniofacial and vertebral regions. Congenital heart defects were the most common (33.3%). A single umbilical artery was found in 12.7% of cases. The twin/triplet rate of 12.7% was significantly higher than the Alberta rate of 3.3% (P < .0001). There was an overlap with a second RCEM condition in 9.5% of cases. CONCLUSIONS: Although CFM is primarily a craniofacial condition, the majority of cases have congenital anomalies affecting other systems requiring additional assessments, including an echocardiogram, renal ultrasound examination, and a complete vertebral radiograph. The high rate of an associated single umbilical artery raises the possibility of a related etiological mechanism. Our findings support the proposed concept of RCEM conditions.

Prenatal Diagnosis of Isolated Single Umbilical Artery: Incidence, Risk Factors and Impact on Pregnancy Outcomes.

Objectives: To assess the incidence of prenatally diagnosed isolated single umbilical artery (iSUA) and its impact on major pregnancy outcomes, as well as to investigate potential risk factors. Materials and methods: A prospective study of singleton pregnancies, undergoing routine anomaly scans at 20+0-24+0 weeks of gestation, was carried out from 2018 to 2022. The effect of sonographically detected iSUA on small-for-gestational-age neonates (SGA) and preterm delivery (PTD) was evaluated using parameterized Student's t-test, nonparametric Mann-Whitney U test and the chi-square test. Multivariable logistic regression models were implemented to assess the independent association between iSUA and the main outcomes, as well as with potential risk factors, while adjusting for specific confounders. Results: The study population included 6528 singleton pregnancies and the incidence of prenatally diagnosed iSUA was 1.3%. Prenatally diagnosed iSUA had a statistically significant association with both SGA neonates (aOR: 1.909; 95% CI: 1.152-3.163) and PTD (aOR: 1.903; 95% CI: 1.035-3.498), while no association was identified between this sonographic finding and preeclampsia. With regard to risk factors, conception via assisted reproductive technology (ART) was associated with increased risk of iSUA (aOR: 2.234; 95% CI: 1.104-4.523), while no other independent predictor for the development of this anatomical variation was identified. Conclusions: Prenatally diagnosed iSUA seems to be associated with a higher incidence of SGA and PTD and is more common in pregnancies following ART, which constitutes a novel finding.

Placental micro blood perfusion for isolated single umbilical artery foetuses and VEGF protein expression in the placenta.

Microblood perfusion of isolated single umbilical artery (ISUA) foetus placenta was evaluated using three-dimensional power Doppler ultrasound (3D-PDU). Vascular endothelial growth factor (VEGF) protein expression in the placenta was also semi-quantitative and qualitatively analysed. Differences between ISUA and control groups were compared. 3D-PDU was used to detect placental blood flow parameters, including vascularity index (VI), flow index, and vascularity flow index (VFI), in 58 foetuses in the ISUA group and 77 normal foetuses in the control group. Immunohistochemistry and polymerase chain reaction were employed to analyse the VEGF expression in placental tissues of 26 foetuses in the ISUA group and 26 foetuses in the control group. The control group exhibited higher VI and VFI than the ISUA group (p < 0.05). Meanwhile, the ISUA group showed a higher positivity rate of VEGF protein expression than the control group (χ2=28.013, p˂0.001). The ISUA group also presented a higher VEGF mRNA protein expression than the control group (p˂0.001). 3D-PDU can be used to quantitatively analyse microblood perfusion of the placenta and provide an objective assessment of ISUA foetuses.Impact statementWhat is already known on this subject? Colour Doppler flow can be used to evaluate placental and maternal circulation and remains an ideal method for evaluating high-risk placental function. Three-dimensional power Doppler ultrasound (3D-PDU) can be used to quantify blood vessels and blood flow in placental parenchyma via the measurement of the amplitude of blood vessels and blood flow in normal foetuses, respectively.What do the results of this study add? 3D-PDU can be used to quantitatively analyse micro blood perfusion of the placenta and conduct an objective assessment of isolated single umbilical artery foetuses. The isolated single umbilical artery foetuses exhibited a higher positivity rate of vascular endothelial growth factor (VEGF) protein expression and higher VEGF mRNA protein expression than the normal foetuses.What are the implication of these findings for clinical practice and/or further research? The study provides a reliable basis for maternal-foetal monitoring during pregnancy in the isolated single umbilical artery foetuses. Objective assessment of the occurrence and development of foetuses with isolated single umbilical artery was performed.

Association of placental and umbilical cord characteristics with cerebral palsy: national cohort study.

OBJECTIVES: Cerebral palsy (CP) is a group of movement disorders usually diagnosed in childhood. A substantial proportion are thought to be caused by antenatal events. Abnormalities of the umbilical cord and placenta are associated with an increased risk of adverse neonatal outcomes, but it is unclear whether these conditions also carry an increased risk of CP. We aimed to determine whether abnormalities of the umbilical cord or placenta are associated with CP and assess if these associations differ by sex of the child or gestational age at birth. METHODS: We performed a national cohort study by linking data from The Medical Birth Registry of Norway with other national registries. All liveborn singletons born between 1999 and 2017 (n = 1 087 486) were included and followed up until the end of 2019. Diagnoses of CP were provided by the Norwegian National Insurance Scheme and the Norwegian Patient Register. We used generalized estimating equations and multilevel log binomial regression to calculate relative risks (RR), adjusted for year of birth, and stratified analyses were carried out based on sex and gestational age at birth. Exposures were abnormal umbilical cord (velamentous or marginal insertion, single umbilical artery (SUA), knots and entanglement), and placental abnormalities (retained placenta, placental abruption and previa). RESULTS: A total of 2443 cases with CP (59.8% males) were identified. Velamentous cord insertion (adjusted RR (aRR), 2.11 (95% CI, 1.65-2.60)), cord knots (aRR, 1.53 (95% CI, 1.15-2.04)) and placental abnormalities (placenta previa (aRR, 3.03 (95% CI, 2.00-4.61)), placental abruption (aRR, 10.63 (95% CI, 8.57-13.18)) and retained placenta (aRR, 1.71 (95% CI, 1.32-2.22))) carried an increased risk of CP. Velamentous cord insertion was associated with CP regardless of gestational age or sex. A retained placenta was associated with a 2-fold increased risk for CP in males, while the associations of SUA and cord knot with CP were significant only among females. CONCLUSIONS: The detection of placental and umbilical cord abnormalities may help identify children at increased risk of CP. The associations between placental or umbilical cord abnormalities and the risk of CP do not vary substantially with gestational age at birth or sex of the child. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit.

Objectives: Single umbilical artery (SUA) is considered the most common abnormality of the umbilical artery. The objective of the study was to evaluate the perinatal prognosis of fetuses with SUA and to describe the associated malformations. The significance of the study is represented by examining whether our findings are in correlation with data already described.Methods: We performed a prospective cohort study on singleton pregnancies complicated with SUA. The study population was composed of women with singleton pregnancies who were examined at the Department of Obstetrics and Gynecology of the Târgu Mures County Emergency Clinical Hospital between 2012 and 2021.Results: The incidence of SUA in the study population was 0.48%. C-section was performed in 40 cases with SUA and in 5258 cases with no SUA (RR:1.56, P<0.05.) From the total number of 2249 premature deliveries, 23 newborns were diagnosed with SUA (RR:2.12, P<0.05.) From the total number of 869 deliveries with low birth weight (LBW) newborns, 13 were associated with SUA (RR: 3.12, P<0.05.) There were 206 pregnancies noted with antenatal fetal demise after 24 weeks of gestation, and only 2 of them were with SUA (RR:2.01, P>0.05.) Fetal and neonatal malformations were described in 290 cases, and 28 were associated with SUA (R:21.96, P<0.05.) In 57 of 85 cases (67.05%), we found iSUA, and 28 newborns (32.95%) had minor, major, or other associated pathologies. We found two cases of trisomy 18 and one case with trisomy 13 associated with SUA. Investigating the malformations associated with SUA, the most common were cardiac and great vessels malformations (12), followed by limb malformations (8), urogenital malformations (7), digestive tract malformations (7), central nervous system malformations (4), and in one case we found cleft palate.Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.

Fetal growth restriction and a single umbilical artery are independent predictors of hypospadias during pregnancy.

INTRODUCTION: Little is known about the association between hypospadias and small fetuses, as well as the pathological implications of fetal growth restriction (FGR). Thus, we aimed to investigate the association between hypospadias and small fetuses using a database of fetal ultrasound and obstetric events. METHODS: A cohort of male singleton infants delivered after 22 weeks of gestation at Keio University Hospital between 2013 and 2019 was retrospectively reviewed. FGR was defined according to the Delphi criteria. Logistic regression analysis was performed to identify the significant predictors of hypospadias. Placental pathology was reviewed in cases with hypospadias. RESULTS: Of the 2,040 male infants included in the present study, 23 had hypospadias. The prevalences of a single umbilical artery (SUA), small for gestational age, maternal hypertensive disorders of pregnancy, and a small placenta, were significantly higher in infants with hypospadias. Multiple logistic regression analysis revealed that FGR (odds ratio [OR] = 9.39; 95% confidence interval [CI], 2.50-35.3) and the presence of a SUA (OR = 33.4; 95% CI, 8.00-139.5) were independently and significantly associated with hypospadias. When FGR was stratified by the time of onset, its association with hypospadias was significant regardless of the time of onset. Moreover, placental histological findings suggested that fetal vascular malperfusion might play a role in hypospadias. DISCUSSION: FGR and SUAs are independent prenatal predictors of the development of hypospadias, and fetal vascular malperfusion of the placenta may be involved in the etiology of hypospadias.

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.

BACKGROUND: Duplication of the distal end of chromosome 15q has been previously implicated in a characteristic overgrowth syndrome. Additionally, many patients have other congenital malformations, including cardiac, renal, genital, and musculoskeletal anomalies. However, some patients may present with intrauterine growth restriction and short stature. Different breakpoints within 15q, as well as different environmental factors, may underlie these varied presentations. CASE PRESENTATION: We discuss monochorionic-diamniotic twins with a ~345 kb maternally inherited duplication in 15q26.3. The twins presented with discordant pathology-one twin with a single umbilical artery, selective intrauterine growth restriction, and multiple cardiac defects including aortic coarctation, aortic valve stenosis, and ventricular septal defect, whereas the other twin was unaffected. To our knowledge, this case represents the smallest reported duplication of distal 15q. CONCLUSION: The discordant phenotype seen in the twins is likely due to a complex interplay between genetic and environmental causes. The affected infant presented prenatally with growth restriction and a single umbilical artery rather than overgrowth, potentially due to a unique breakpoint within 15q. This, in turn, may have produced hemodynamic perturbations between the twins, leading to discordant cardiac disease. Our report thus highlights the importance of genetic and nongenetic mechanisms underlying discordant anomalies in monochorionic twins.

Comparative study of umbilical cord cross-sectional area in foetuses with isolated single umbilical artery and normal umbilical artery.

Single umbilical artery (SUA) is one of the most common prenatal diagnoses in cases of foetal abnormality. This prospective study evaluated 77 foetuses with isolated SUAs and 77 healthy foetuses, both at 22-39 gestational weeks. We categorised gestational age into the second and third trimesters, measured the umbilical arterial blood flow parameters and calculated the umbilical vein (UV) area, umbilical artery (UA) area and UV area/UA area ratio. In the second and third trimesters, a higher UA area was obtained in the isolated SUA group than in the control group (p < .01). Furthermore, the isolated SUA group had a lower UV area/UA area ratio than the control group (p < .01), and a positive linear correlation was found between gestational age and UV area in both groups (p < .01). The presence of isolated SUAs was associated with low birth weight and a high prevalence of small for gestational age.IMPACT STATEMENTWhat is already known on this subject? Single umbilical artery (SUA) is one of the most common prenatally diagnosed foetal abnormalities and approximately 80% foetuses with SUA have isolated SUA, which is a soft indicator of chromosome abnormalities, congenital malformations and premature birth. Umbilical cord cross-sectional area can be evaluated prenatally by ultrasound imaging. Normal values increase with gestational age and foetal size in single pregnancies. Changes in umbilical cord thickness have been associated with complications during pregnancy.What do the results of this study add? The correlation between gestational age and umbilical vein area in the isolated single umbilical artery (SUA) group and control group was better than that between gestational age and umbilical artery area. UA area increased significantly in both groups before 28 weeks but not after 28 weeks, particularly in the isolated SUA group.What are the implications of these findings for clinical practice and/or further research? The study provides a reliable basis for maternal foetal monitoring during pregnancy in the isolated SUA and control groups. Objective assessment of the occurrence and development of foetuses with isolated single umbilical artery was performed.

Adverse perinatal outcomes following the prenatal diagnosis of isolated single umbilical artery in singleton pregnancies: a systematic review and meta-analysis.

OBJECTIVES: A systematic review and meta-analysis was conducted to quantitatively synthesize the current evidence on the association of prenatally diagnosed isolated single umbilical artery (iSUA) in singleton pregnancies with small for gestational age (SGA) neonates and other perinatal outcomes. METHODS: A search of PubMed/Medline, Scopus and The Cochrane Library was conducted, from inception to February 2021, in order to identify studies comparing the risk of SGA and other perinatal adverse outcomes in prenatally diagnosed iSUA singleton pregnancies vs. those with a 3-vessel cord (3VC). The quality of eligible studies was assessed according to the improved Newcastle-Ottawa Scale (NOS). The heterogeneity of results across the studies was tested using the I2 test. Funnel plots and Egger's test were used to assess the possibility of publication bias. Prospero RN: CRD42020182586. RESULTS: The electronic search identified 7,605 studies, of which 11 were selected, including three retrospective cohort and eight retrospective case control studies, overall reporting on 1,533 iSUA cases. The risk of delivering SGA neonates was increased in cases with iSUA (OR: 2.90; 95% CI: 2.02-4.18; p<0.00001; I2=71%). Similarly, iSUA was associated with an increased risk of pregnancy-induced hypertension (PIH) (OR: 2.23; 95% CI: 1.41-3.54; p<0.000; I2=1%), intrauterine death (IUD) (OR: 2.62; 95% CI: 1.43-4.79; p=0.002; I2=0%), preterm birth (PTB) (OR: 2.48; 95% CI: 1.73-3.56; p<0.00001; I2=56%), cesarean section (CS) (OR: 1.64; 95% CI: 1.11-2.41; p=0.01; I2=78%) and admission to neonatal intensive care unit (NICU) (OR: 2.28; 95% CI: 1.52-3.44; p<0.000001; I2=73%). CONCLUSIONS: In prenatally diagnosed iSUA there is a higher risk of SGA, PIH, IUD, PTB, CS and NICU admission. These findings support the value of prenatal diagnosis of iSUA, which may subsequently intensify surveillance for the detection of specific pregnancy complications.

Hypothesized pathogenesis of acardius acephalus, acormus, amorphus, anceps, acardiac edema, single umbilical artery, and pump twin risk prediction.

BACKGROUND: Acardiac twinning complicates monochorionic twin pregnancies in ≈2.6%, in which arterioarterial (AA) and venovenous placental anastomoses cause a reverse circulation between prepump and preacardiac embryos and cessation of cardiac function in the preacardiac. Literature suggested four acardiac body morphologies in which select (groups of) organs fail to develop, deteriorate, or become abnormal: acephalus (≈64%, [almost] no head, part of body, legs), amorphus (≈22%, amorphous tissue lump), anceps (≈10%, cranial bones, well-developed), and acormus (≈4%, head only). We sought to develop hypotheses that could explain acardiac pathogenesis, its progression, and develop methods for clinical testing. METHODS: We used qualitatively described pathophysiology during development, including twin-specific AA and Hyrtl's anastomoses, the short umbilical cord syndrome, high capillary permeability, properties of spontaneous aborted embryos, and Pump/Acardiac umbilical venous diameter (UVD) ratios. RESULTS: We propose that each body morphology has a specific pathophysiologic pathway. An acephalus acardius may be larger than an anceps, verifiable from UVD ratio measurements. A single umbilical artery develops when one artery, unconnected to the AA, vanishes due to flow reduction by Hyrtl's anastomotic resistance. Acardiac edema may result from acardiac body hypoxemia combined with physiological high fetal capillary permeability, high interstitial compliance and low albumin synthesis. Morphological changes may occur after acardiac onset. Pump twin risk follows from UVD ratios. CONCLUSION: Our suggested outcomes agree reasonably well with reported onset, incidence, and progression of acardiac morphologies. Guidance for clinical prediction and testing requires ultrasound anatomy/circulation study, from the first trimester onward.

Molecular cytogenetic characterization of 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects.

OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects, and we discuss the genotype-phenotype correlation. CASE REPORT: Here, we describe a fetus with abnormal sonography findings showing a single umbilical artery and ventricular septal defects. Conventional karyotyping initially described the fetus as 46,XX,1q? and molecular cytogenetic analysis (CMA) revealed a 13-Mb deletion and 4.6-Mb duplication of regions 1q42.3q44 and 8q24.3, respectively. The father's karyotype was 46,XY. The mother's karyotype was 46,XX,t(1;8)(q42;q24). Therefore, the karyotype of the fetus was identified as 46,XX,der(1)t(1;8)(q42;q24) mat. After genetic counseling, the couple chose to terminate the pregnancy. We suggest that the ACTN2, RYR2 and PUF60 genes may be responsible for the ultrasound abnormalities observed in the fetus. CONCLUSION: To the best of our knowledge, this is the first report of a 1q deletion and 8q duplication identified by prenatal detection. The application of karyotype analysis and CMA provides more accurate characterization for unidentified chromosomal anomalies, and benefits appropriate genetic counseling in the clinic.