Perfusão arterial reversa gemelar: revisão da literatura / Twin reverse arterial perfusion: literature review

A perfusão arterial reversa gemelar é uma anormalidade rara que pode ocorrer em gestações gemelares monocoriônicas. Consiste em uma alteração na circulação fetoplacentária, com desvio de sangue de um dos gemelares para o outro, por meio de anastomoses arterioarteriais e venovenosas na superfície placentária e anastomoses arteriovenosas em áreas de circulação placentária compartilhada. O feto bombeador pode desenvolver insuficiência cardíaca devido ao aumento do débito cardíaco, e o feto receptor, perfundido por sangue pobre em oxigênio por meio do fluxo reverso, é severamente malformado, incompatível com a vida extrauterina. Este artigo apresenta o caso de uma gestação gemelar monocoriônica diamniótica, com manejo clínico conservador. O objetivo é relatar um caso de complicação rara de gestações monozigóticas e revisar condutas para diagnóstico e manejo adequado.(AU)

Twin reverse arterial perfusion is a rare abnormality that can occur in monochorionic twin pregnancies. It consists of an alteration in the fetal-placental circulation, with blood diversion from one of the twins to the other, through arterio-arterial and veno- venous anastomosis on the placental surface and arterio-venous anastomosis in areas of shared placental circulation. The pumping fetus may develop heart failure due to increased cardiac output, and the recipient fetus, perfused by oxygen-poor blood through reverse flow, is severely malformed, incompatible with extrauterine life. This article presents the case of a monochorionic diamniotic twin pregnancy, with conservative clinical management. The objective is to report a case of rare complication of monozygotic pregnancies and review procedures for diagnosis and adequate management.(AU)

Left myocardial performance index in monochorionic diamniotic twin pairs complicated by selective fetal growth restriction with abnormal umbilical artery Doppler.

OBJECTIVE: To evaluate left myocardial performance index (MPI) and its time intervals in monochorionic diamniotic (MCDA) twin pairs complicated by selective fetal growth restriction (sFGR) with abnormal (persistent -type II- or intermittent -type III- absent or reversed end-diastolic flow) umbilical artery Doppler. METHODS: Retrospective study including 16 MCDA twin pairs with sFGR type II, 26 MCDA twin pairs with sFGR type III and 42 gestational age-matched uncomplicated MCDA twin pairs in a single tertiary center. Left isovolumetric contraction time (ICT), ejection time (ET), and isovolumetric relaxation time (IRT) were measured and MPI calculated by conventional Doppler at diagnosis of sFGR. RESULTS: In sFGR type II, the smaller twin had shorter ET and prolonged IRT and MPI, while the larger twin showed prolonged ICT and MPI as compared to uncomplicated MCDA twins. In sFGR type III, the smaller twin had shorter ICT and ET, while the larger twin showed prolonged ICT, IRT, and MPI in comparison to controls. CONCLUSION: A differential pattern of MPI time intervals could be observed in MCDA twins with sFGR type II and III. All twins had echocardiographic signs of pressure/volume overload, except the smaller twin type III with shorter systolic times probably reflecting reduced volume load.

Fetal Urinoma Due to Circulatory Disorders in an Umbilical Artery: Case Report.

Fetal urinoma is defined as an encapsulated accumulation of extravasated urine within the perirenal space or retroperitoneum. It is an uncommon finding in prenatal practice, and the vast majority of known cases are strongly associated with the existence of a urinary obstruction, such as posterior urethral valves, ureteropelvic junction obstruction, or ureterocele. We report a unique case of prenatally detected fetal bladder urinoma that occurred in the absence of an apparent obstructive uropathy, but was associated with extensive ischemic necrosis and calcifications of adjacent bladder wall, coexistent with signs of vascular supply decompensation.

Maternal plasma soluble neuropilin-1 is downregulated in fetal growth restriction complicated by abnormal umbilical artery Doppler: a pilot study.

OBJECTIVES: Placental expression of neuropilin-1 (NRP1), a proangiogenic member of the vascular endothelial growth factor receptor family involved in sprouting angiogenesis, was recently discovered to be downregulated in pregnancies with fetal growth restriction (FGR) and abnormal umbilical artery (UA) Doppler. Soluble NRP1 (sNRP1) is an antagonist to NRP1; however, little is known about its role in normal and FGR pregnancies. This study tested the hypotheses that, first, sNRP1 would be detectable in maternal circulation and, second, its concentration would be upregulated in FGR pregnancies compared to those with normal fetal growth and this would correlate with the severity of the disease as assessed by UA Doppler. METHODS: This was a prospective case-control pilot study of 40 singleton pregnancies (20 FGR cases and 20 uncomplicated controls) between 24 + 0 and 40 + 0 weeks' gestation followed in an academic perinatal center from January 2015 to May 2017. FGR was defined as an ultrasound-estimated fetal weight < 10th percentile for gestational age. The control group was matched to the FGR group for maternal age and gestational age at assessment. Fetal ultrasound biometry and UA Doppler were performed using standard protocols. Maternal plasma sNRP1 measurements were performed using a commercially available ELISA. RESULTS: Contrary to the study hypothesis, maternal plasma sNRP1 levels were significantly decreased in FGR pregnancies as compared to those with normal fetal growth (137.4 ± 44.8 pg/mL vs 166.7 ± 36.9 pg/mL; P = 0.03). However, there was no significant difference in sNRP1 concentration between the control group and FGR pregnancies that had normal UA Doppler. Plasma sNRP1 was downregulated in FGR pregnancies with elevated UA systolic/diastolic ratio (P = 0.023) and those with UA absent or reversed end-diastolic flow (P = 0.005) in comparison to FGR pregnancies with normal UA Doppler. This suggests that biometrically small fetuses without hemodynamic compromise are small-for-gestational age rather than FGR. CONCLUSIONS: This study demonstrated a significant decrease in maternal plasma sNRP1 concentration in growth-restricted pregnancies with fetoplacental circulatory compromise. These findings suggest a possible role of sNRP1 in modulating fetal growth and its potential as a biomarker for FGR. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Isolated Single Umbilical Artery as a Risk Factor for Urinary Tract Infections in Childhood.

OBJECTIVE: This study aimed to determine whether isolated single umbilical artery (iSUA), even absent identifiable genitourinary (GU) abnormalities, increases the risk of GU infection during childhood. STUDY DESIGN: Retrospective population-based comparison of fetuses with iSUA versus normal three-vessel cords. Fetuses with growth restriction, prematurity, multiple gestations, and anatomical or chromosomal anomalies were excluded. The primary outcome was hospital-associated GU infection during the first 18 years of life. Kaplan-Meier's survival curves were used to assess cumulative risk; Cox's multivariable models were used to adjust for confounders. RESULTS: Among 227,599 term singleton deliveries, children with iSUA (n = 729) had a higher incidence (1.8 vs. 0.6%, p < 0.001) and cumulative incidence (log-rank test, p < 0.001) of hospital-associated GU infection. The Cox's models confirmed these findings (hazard ratio: >2.82, confidence interval: 1.63-4.87 in composite models). CONCLUSION: iSUA represents an independent risk factor for GU infection. Urinary tract imaging may be warranted.

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

BACKGROUND: Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly of limbs. By now, the syndrome has been reported in several large families from different ethnic backgrounds, with a high degree of inter- and intrafamilial variability. The genome locus responsible for TPT-PS has been mapped to the 7q36.3 region harboring a long-range sonic hedgehog (SHH) regulatory sequence (ZRS). Both single-nucleotide variants and complete duplications of ZRS were shown to cause TPT-PS and similar limb phenotypes. TPT-PS usually forms as isolated limb pathology not associated with additional malformations, in particular, with cardiovascular abnormalities. CASE PRESENTATION: Here we report on a rare Russian neonatal case of TPT-PS combined with severe congenital heart disease, namely double outlet right ventricle, and microphthalmia with optic disc coloboma. Pedigree analysis revealed TPT-PS of various expressivity in 10 family members throughout five generations, while the cardiac defect and the eye pathology were detected only in the proband. To extend the knowledge on genotype-phenotype spectrum of TPT-PS, the careful clinical and genomic analysis of the family was performed. High-resolution array-based comparative genomic hybridization (array-CGH) revealed a ~ 300 kb microduplication of 7q36.3 locus (arr[GRCh37] 7q36.3(156385810_156684811) × 3) that co-segregated with TPT-PS in the proband and her mother. The duplication encompassed three genes including LMBR1, the intron 5 of which is known to harbor ZRS. Based on whole-exome sequencing data, no additional pathogenic mutations or variants of uncertain clinical significance were found in morbid cardiac genes or genes associated with a microphthalmia/anophthalmia/coloboma spectrum of ocular malformations. CONCLUSIONS: The results support the previous data, indicating that complete ZRS duplication underlies TPT-PS, and suggest a broader phenotypic impact of the 7q36.3 microduplication. Potential involvement of the 7q36.3 microduplication in the patient's cardiac and eye malformations is discussed. However, the contribution of some additional genetic/epigenetic factors to the complex patient`s phenotype cannot be excluded entirely. Further comprehensive functional studies are needed to prove the possible involvement of the 7q36.3 locus in congenital heart disease and eye pathology.

Intermittent absent and reversed umbilical artery flows in appropriately grown monochorionic diamniotic twins in relation to proximate cord insertion: A harmful combination?

OBJECTIVE: To compare the prevalence of intermittent absent or reversed end-diastolic flow (iAREDF) in the umbilical artery in appropriately grown monochorionic diamniotic (MCDA) pregnancies with and without proximate cord insertion (PCI), and to evaluate pregnancy outcome. METHODS: The prevalence of iAREDF in MCDA pregnancies with PCI (n = 11) was compared with a control group without PCI (n = 33). PCI was defined as a distance between the cord insertions below the fifth percentile. Placental sharing, number, and diameter of anastomoses were assessed by placental examination. Pregnancy outcome was evaluated. RESULTS: iAREDF was present in 7/11 PCI pregnancies, compared with 0/33 in the control group (P ≤ .01). All PCI pregnancies and 94% of controls had arterioarterial (AA)-anastomoses (P = .56), the diameter was larger in the PCI group, respectively 3.3 vs 2.1 mm (P = .03). Three cases with iAREDF had adverse outcome, two resulted in fetal death of which one with brain damage in the co-twin, another underwent early premature emergency section for fetal distress. CONCLUSION: iAREDF occurs in a large proportion of MCDA pregnancies with PCI and is related to the diameter of the AA anastomosis. We hypothesize that iAREDF in appropriately grown MCDA twin pregnancies reflects an unstable hemodynamic balance with an increased risk for fetal deterioration. Whether outcome in these pregnancies can be improved by altered management requires further investigation.

Evaluation of right ventricular function in fetuses with isolated single umbilical artery using spatiotemporal image correlation M-mode.

BACKGROUND: Postnatal outcome of fetuses with isolated single umbilical artery (SUA) is determined mainly by right ventricular function. Our study examined whether there are differences in right ventricular function during the gestation period of fetuses with isolated SUA compared to healthy fetuses. METHODS: A prospective study was conducted on 77 fetuses with isolated SUA and 77 gestational age-matched controls from 22 to 39 weeks. For gestational age grouping, the isolated SUA fetuses and the control fetuses were divided into the second trimester group (22-27 weeks; 43 fetuses) and third trimester group (28-39 weeks; 34 fetuses). The fetal tricuspid annular plane systolic excursion (f-TAPSE) M-mode was applied to the tricuspid annulus, parallel to the ventricular septum, and the amplitude of the resulting wave was assessed using spatiotemporal image correlation (STIC) M-mode. We investigated the possible changes to the STIC M-mode indices during the course of pregnancy in both the isolated SUA and control groups. The relationship between f-TAPSE and gestational age was analyzed. Additionally, the correlations between f-TAPSE and birth weight was analyzed, and the birth weight differences between the isolated SUA and control groups in the third trimester were analyzed according to postpartum results. RESULTS: There was a significant difference in f-TAPSE between isolated SUA and control group in the third trimester (P < 0.05). There were significant correlations between gestational age (GA) and f-TAPSE among control fetuses (R2 = 0.9049; P < 0.01). A significant, positive correlation between GA and f-TAPSE was also found with isolated SUA fetuses (R2 = 0.8108; P < 0.01). The prevalence of small-for-gestational-age (SGA) fetuses and of discordant birth weight fetuses was significantly higher in the isolated SUA group than in the control group. In univariate analysis, the presence of an isolated SUA was associated with lower birth weight (2940 g compared with 3260 g) and with higher prevalence of SGA (13.0% compared with 3.9%; P < 0.01). The correlations between the birth weight and f-TAPSE in the two groups were analyzed in the third trimester, and the correlation in the isolated SUA group was better than that of the control group (R2 was 0.623 and 0.463 in the isolated SUA group and the control group, respectively). CONCLUSIONS: Right ventricular function in isolated SUA is altered as early as in fetal third trimester. STIC M-mode can measure the right heart function of the fetus and may predict isolated SUA with SGA.

A partial supernumerary umbilical vein: a case report.

BACKGROUND: Abnormalities in the number of vessels can be found for both the umbilical artery and vein. We sometimes encounter cases of a decreased number of umbilical cord vessels, such as a single umbilical artery. In contrast, there may be an increase from three to four vessels within the umbilical cord. A supernumerary umbilical vein is particularly very rare, and it is generally found in combination with congenital anomalies. We report a case of a partial supernumerary umbilical vein. CASE PRESENTATION: The previous pregnancy of a 37-year-old healthy Japanese woman (gravida 2, para 1) had been uncomplicated, and the resulting child was alive and well. Prenatal examination at 36 weeks of gestation revealed the coexistence of a four-vessel part and a normal three-vessel part of the umbilical cord. A healthy female neonate weighing 2726 g was born at 38 weeks of gestation. The umbilical cord measured 40 cm in length; the four-vessel part continued to a distance of 18 cm from the surface of the infant's body, and the remaining umbilical cord comprised three vessels. On histological examination, the fetal side of the umbilical cord had two arteries and two veins, and the placental side had two arteries and one vein. Isolated supernumerary umbilical veins tend to be overlooked. We consider that it is important to evaluate the number of umbilical cord vessels in the second trimester using ultrasound combined with color Doppler in at least three sites: the insertion sites on both the fetal abdomen and placenta, and the free loop of the umbilical cord. CONCLUSIONS: Prenatal diagnosis of isolated supernumerary umbilical cord vessels tends to be overlooked. However, supernumerary vessels of the umbilical can be associated with fetal congenital anomalies. The number of vessels within the umbilical cord must be examined because the detection of such abnormalities may lead to the prenatal diagnosis of other congenital anomalies.

Risk of donor demise after laser therapy for twin-twin transfusion when complicated by growth discordance and abnormal umbilical artery Doppler findings.

OBJECTIVE: To investigate the natural course of abnormal umbilical artery Doppler (UAD) findings in donor fetuses after laser surgery and the prognostic significance of resolution, persistence, or new onset UAD abnormalities with and without the presence of preoperative growth discordance. STUDY DESIGN: Retrospective cohort study of all monochorionic-diamniotic multi-fetal gestations diagnosed with twin-twin transfusion syndrome (TTTS) undergoing laser surgery at a single large metropolitan referral center from 2010-2016. The estimated fetal weight was measured preoperatively and the UAD were measured both pre- and postoperatively (median = 8 days). Patients were grouped according to the presence of abnormal UAD with or without growth discordance pre- and postoperatively. Risk ratios (RR) were calculated for each group for risk of intrauterine fetal demise compared to the pre- and postoperative normal UAD groups as the referents. RESULTS: There were eighty-one women who met inclusion criteria throughout the study period. Forty-three (53.1%) patients had abnormal donor twin UAD preoperatively and 33 (40.7%) were diagnosed with growth discordance. However, 13 (44.8%) had normalization of the UAD postoperatively (median = 8 days) with a similar rate of donor fetal demise as the non-discordant preoperative normal UAD group (7.7% versus 10.3%, p = .79). Abnormal preoperative UAD was associated with an increased risk of donor demise (RR 3.6, CI 1.1-12.1), which was further elevated in the presence of growth discordance (RR 5.2, CI 1.7-16.3). The greatest risk for donor demise was seen if the UAD remained abnormal postoperatively with concomitant growth discordance (RR 10.3, CI 2.5-41.6). CONCLUSIONS: Preoperative abnormal donor UAD is a significant risk for donor demise post-laser therapy for TTTS. Persistent postoperative abnormal UAD with concomitant growth discordance confers the greatest risk for donor demise. However, resolution of abnormal UAD has a similar rate of donor demise when compared to patients with normal UAD preoperatively.

Endovascular Management of a Large Persistent Sciatic Artery Aneurysm.

The persistent sciatic artery (PSA) is a remnant of the fetal circulatory system that is preserved in less than 0.1% of the population. Up to 60% of patients with this vascular anomaly will go on to development of a PSA aneurysm (PSAA), which can produce a variety of symptoms including neuropathy, claudication, and acute limb-threatening ischemia. Historical management is by open operation and interposition grafting, which can be highly morbid. We describe successful management of a large, symptomatic PSAA by endovascular stent grafting with intermediate term follow-up.

Prenatal diagnosis of four-vessel umbilical cord with supernumerary vein varix: A case report and literature review.

Four-vessel umbilical cord with two arteries and two veins, and fetal intra-abdominal umbilical vein varix are rare fetal vascular pathologies, associated with congenital anomalies and an adverse perinatal outcome, respectively. We report a case of a healthy male neonate born at a gestational age of 38 weeks, five days, after prenatal sonographic diagnosis of a four-vessel umbilical cord with a supernumerary vein varix. To the best of our knowledge, this is the first case with this combination.

Recipient umbilical artery elongation (redundancy) in twin-twin transfusion syndrome.

BACKGROUND: Chronic hypertension in adults causes arterial lengthening in major arteries, but the effects of early fetal hypertension on the twin-twin transfusion syndrome recipient's vascular architecture remains unknown. OBJECTIVE: We hypothesize that arterial cord redundancy is related to recipient hypertension and subsequent heart failure. Our objectives were to: (1) establish a 3-dimensional color Doppler ultrasound method of measuring umbilical arterial length relative to its corresponding venous segment in the umbilical cord using artery vein angle; (2) compare recipient artery vein angle to gestational age-matched controls; and (3) test the association of artery vein angle with recipient heart failure. STUDY DESIGN: We compared 3 groups prospectively: twin-twin transfusion syndrome pregnancies undergoing fetoscopic laser surgery (preoperatively) and 2 groups of gestational age-matched controls: uncomplicated monochorionic-diamniotic twin pregnancies and healthy singletons. Using a 3-dimensional color-Doppler volume image of 5 cm of cord near the placental insertion, we traced the umbilical artery and vein producing umbilical artery:vein length, (artery vein index) and measured the artery vein angle between umbilical artery and vein. Correlation of artery vein angle to twin-twin transfusion syndrome stage, maximum vertical pocket, umbilical arterial indices, ductus venosus Doppler, and brain natriuretic peptide were performed. We used pulsed-wave and tissue Doppler to measure tissue Doppler velocities and indexed cardiac output and correlated these with artery vein angle. Comparative statistics, including multivariable linear regression, examined the relationship between umbilical arterial Doppler indices and artery vein angle. RESULTS: Artery vein angle and artery vein index correlated significantly (R2, 0.86; P < .0001), hence, artery vein angle was used for analysis. Mean artery vein angle was 33.1 ± 31.5 degrees in recipients (n = 44), 9.5 ± 6 degrees in monochorionic-diamniotic (n = 11; 22 fetuses), and 8.9 ± 8.3 degrees in singleton controls (n = 16) (P < .001). An artery vein angle ≥26 degrees (>95th percentile for controls) was measured in 52% recipients. Artery vein angle was higher in twin-twin transfusion syndrome stage 3R vs 1 (P = .001). Artery vein angle increased with increasing umbilical arterial pulsatility index (P < .001), and decreased with increasing resistance index (P = .02) after adjusting for gestational age. Interrater agreements to categorize abnormal artery vein angle values was 95% (P < .001). Abnormal ductus venosus Doppler and elevated recipient amniotic fluid N-terminal pro-brain natriuretic peptide/protein levels correlated significantly with artery vein angle. Abnormal artery vein angles were associated with decreased indexed cardiac output, lower tissue Doppler velocities, higher right-sided Tei indices, and severe tricuspid regurgitation. CONCLUSION: Umbilical arterial lengthening occurs in 52% of recipients and is associated with abnormal Doppler flows, low systolic tissue Doppler velocities, reduced cardiac output, and elevated markers of cardiac failure. This may reflect chronicity and severity of hypertension in the recipient fetus. Further research is needed to explore the mechanisms of elongation and long-term implications.

A case report of congenital umbilical arteriovenous malformation complicated with liver failure after surgical excision.

RATIONALE: Few case reports of umbilical arteriovenous malformation (AVM) have been reported. Herein, we report a neonatal case of umbilical AVM who underwent liver failure after surgical excision. PATIENT CONCERNS: The patient was a girl delivered at a gestational age of 39+5 weeks showing cyanosis and heart murmur. DIAGNOSES: Cardiac echography, abdominal ultrasonography (USG), and computed tomography revealed suspecting the umbilical AVM. INTERVENTIONS: On the eighth day after birth, because of the aggravation of heart failure, emergency surgery for excision of umbilical AVM was performed. OUTCOMES: In postoperative state, worsened laboratory test of liver function and coagulopathy indicated the liver failure. Abdominal USG revealed that the portal vein (PV) flow primarily occurred from the left PV to the inferior vena cava via ductus venosus and coarse hepatic echogenicity. After conservative management, laboratory findings of liver function and the flow direction of the left PV were normal, as demonstrated by abdominal USG within 50th postoperative day. LESSONS: Careful preoperative evaluation of an AVM of a large size with significant blood flow should be performed, and the possibility of liver failure after surgery should always be considered.

Prenatal diagnosis of umbilical arteriovenous malformation.

Umbilical arteriovenous malformation (AVM) is a rare congenital malformation. We report a case of umbilical AVM that was prenatally diagnosed by further color Doppler ultrasonography because of fetal cardiomegaly. At 35 weeks gestation, a male newborn was delivered by emergent cesarean section because of rapid progress of cardiomegaly and breech presentation. Three-dimensional reconstructed computed tomography after birth demonstrated the shunt was spontaneously closed. This is the first case report of umbilical AVM, which was prenatally diagnosed, and the boy was successfully delivered, suggesting that, when fetal cardiomegaly is identified, umbilical AVM must be taken into consideration.

A rare variation of the testicular blood supply by the deferential artery / Rara variación del suministro de sangre testicular por la arteria del conducto deferente

Any compression of testicular arteries may lead to loss of spermatogenesis and gonadal hormone production, existence of the variational arteries is accountable in cases of vasoligation, orchidopexy and other surgical approach on them. Anomalies of the testicular blood arteries were observed during dissection of the pelvic cavity in a 68-year-old male cadaver. This report describes a very rare case of lack of testicular arteries. For the blood supply to the testis, thick deferential arteries form some vascular winding and loops and course accompanied by deferent duct to the testis. This case report would serve as ray of light for knowledge of the possible variations of the testicular arteries during surgical procedures.

Cualquier compresión de las arterias testiculares puede conducir a la pérdida de la espermatogénesis y la producción de hormonas gonadales. La existencia de variaciones en las arterias testiculares es relevante en los casos de vasectomía, orquidopexia y otros tipos de abordaje quirúrgico. Se observaron anomalías de las arterias testiculares durante la disección de la cavidad pélvica de un cadáver de sexo masculino de 68 años de edad. En este trabajo se describe un caso muy poco frecuente de ausencia de arterias testiculares. Para el suministro sanguíneo del testículo, se encontraron arterias deferentes gruesas que producen sinuosidad y tortuosidad vascular junto al conducto deferente en los testículos. Este caso podría ser útil para el conocimiento de las posibles variaciones de las arterias testiculares durante los procedimientos quirúrgicos.