Cord Abnormalities Research Articles

Associations between provider-assigned Apgar score and neonatal race

For decades, the Apgar scoring system has been used to evaluate neonatal status and determine need for resuscitation or escalation in care, such as admission to a neonatal intensive care unit. However, the variation and accuracy of provider-assigned Apgar scores across neonatal racial groups have yet to be evaluated. This study aimed to investigate how provider-assigned Apgar scores vary by neonatal race independently of clinical factors and umbilical cord gas values. We conducted a retrospective cohort study at an urban academic medical center. All live births at ≥23 weeks and 0 days of gestation from January 1, 2019 through December 31, 2019 with complete data available were included. Data were queried from the electronic medical record and included race, ethnicity, gestational age of neonate, umbilical cord gas values (umbilical artery pH and base deficit), admission to the neonatal intensive care unit, and presence of maternal-fetal complications. Primary outcome measures were neonates' Apgar scores at 1 and 5 minutes. Color Apgar score and admission to the neonatal intensive care unit served as secondary outcome measures. We performed 3 partially proportional ordinal regression models controlling for an increasing number of covariates, with Model 1, the baseline model, adjusted for gestational age, Model 2 additionally adjusted for umbilical cord gases, and Model 3 additionally adjusted for maternal medical conditions and pregnancy complications. A total of 977 neonates met selection criteria; 553 (56.6%) were Black. Providers assigned Black neonates significantly lower Apgar scores at 1 minute (odds ratio, 0.63; 95% confidence interval, 0.49-0.80) and 5 minutes (odds ratio, 0.64; 95% confidence interval, 0.47-0.87), when controlling for umbilical artery gases, gestational age, and maternal-fetal complications. This difference seemed related to significantly lower assigned color Apgar scores at 1 minute when controlling for all the above factors (odds ratio, 0.52; 95% confidence interval, 0.39-0.68). Providers admitted full-term Black neonates to the neonatal intensive care unit at higher rates than non-Black neonates when controlling for all factors (odds ratio, 1.29; 95% confidence interval, 0.94-1.77). Black neonates did not have more abnormal cord gas values (mean umbilical artery pH of 7.259 for Black vs 7.256 for non-Black neonates), which would have supported their admission to the neonatal intensive care unit. Providers applied inaccurate Apgar scores to Black neonates given that the umbilical cord gases were not in agreement with lower Apgar scores. These inaccuracies may be a factor in unnecessary admissions to neonatal intensive care units, and suggest that colorism and racial biases exist among healthcare providers.

A comparison of the accuracy of fetal magnetic resonance imaging and ultrasonography for the diagnosis of fetal congenital malformations of the spine and spinal cord.

To determine the diagnostic value of fetal magnetic resonance imaging (MRI) for congenital spine/spinal cord malformations. This single-center retrospective study included 120 cases of fetal spine/spinal cord abnormalities detected using fetal ultrasonography (US) and further examined by fetal MRI between 2016 and 2020. Cases were divided into three groups (congenital spine, spinal cord, and spine+spinal cord malformations) based on US assessment. We analyzed the accuracy of fetal US and MRI relative to postnatal imaging. The diagnostic accuracy of fetal MRI for fetal spinal cord, spine, and spine+spinal cord malformations was 86.2% (25/29), 89.4% (42/47), and 86.3% (38/44), respectively, and the corresponding rates for fetal US were 51.7% (15/29), 87.2% (41/47), and 68.2% (30/44). The diagnostic accuracy did not differ between fetal MRI and US for congenital spine malformations (p>0.05); for congenital spinal cord malformations and congenital spine+spinal cord malformations, the diagnostic accuracy was significantly higher for fetal MRI than for fetal US (p<0.05). Fetal MRI is effective in the assessment of congenital spine/spinal cord malformations. It can yield information that supplements US findings, especially for congenital spinal cord malformations, and can improve the accuracy of fetal diagnosis.

Adverse Perinatal Outcomes of True Knot of the Umbilical Cord: A Case Series and Review of Literature

A true knot of the umbilical cord (TKUC) is an actual knot formed in pregnancy. It is seen in approximately 0.3%-1.2% of all pregnancies. True knots are of significance as they can cause a wide spectrum of adverse perinatal outcomes like small for gestational age (SGA) fetus, low appearance, pulse, grimace, activity, and respiration (Apgar) score at birth, fetal hypoxia, and even fetal demise.Here, we report a case series of three patients with TKUC and the varied adverse perinatal outcomes associated with them. A low-risk primigravida at term gestation had a suspicious non-stress test (NST). Repeat NST after maternal resuscitation became pathological. Emergency cesarean delivery was performed in view of pathological NST persisting despite intrauterine resuscitation. A healthy male baby weighing 2920 g was delivered, and the umbilical cord had a true knot.A multigravida at 33 + 3 weeks of gestation was referred with fetal growth restriction (FGR). Color Doppler examination showed absent end-diastolic flow (AEDF) in the umbilical artery (UA). Cesarean delivery was performed in view of FGR stage two with AEDF in the UA at 34 weeks of gestation as per the Barcelona criteria. A male baby weighing 1505 g was delivered. The umbilical cord had a true tight knot. The baby had an Apgar score of 7 at one minute after birth but was shifted to the neonatal intensive care unit (NICU) in view of low birth weight and prematurity. The baby slowly gained weight and was discharged from NICU after 15 days in stable condition.A multigravida at 32 weeks of gestation was referred with intrauterine fetal demise. Ultrasonography confirmed the presence of a single intrauterine dead fetus corresponding to 30 + 4 weeks of gestation with an estimated fetal weight (EFW) of 1633 g, amniotic fluid index (AFI) equal to nine, and presence of Spalding’s sign. Induction of labor was done, and she expelled a dead macerated male fetus weighing 1825 g. The infantogram was normal. A true umbilical cord knot was found.The umbilical cord is the source of fetal blood supply; therefore, any cord abnormality can have a significant impact on the fetal outcome. There are various factors that can predispose to TKUC, such as polyhydramnios, increased cord length, monoamniotic twins, male baby, grand multiparity, small fetus, and amniocentesis. TKUC can lead to various adverse outcomes in pregnancy and labor like SGA fetus, low Apgar score at birth, fetal hypoxia, and fetal demise. TKUC increases the risk of fetal demise by as much as four times.With the development of advanced techniques such as three-dimensional/four-dimensional color Doppler ultrasounds, TKUC can be diagnosed antenatally in the form of a four-leaf-clover, a “hanging-noose sign,” or by an unusual multicolor pattern in the cord. The prenatal detection rate of TKUC is only 12%. It mostly remains undetected unless visualized incidentally. Although TKUC is not rare and can have serious outcomes, the importance of its antenatal diagnosis has not been determined. It should be suspected in patients with risk factors, and emphasis should be placed on its antenatal diagnosis on ultrasonography to avoid obstetric disasters in otherwise low-risk females. Though there is no specific management of these cases, a good clinical outcome can be achieved if TKUC is diagnosed antenatally and monitored closely until fetal maturity is attained.

Assisted Reproductive Technique and Abnormal Cord Insertion: A Systematic Review and Meta-Analysis.

Abnormal cord insertion (ACI) is associated with adverse obstetric outcomes; however, the relationship between ACI and assisted reproductive technology (ART) has not been examined in a meta-analysis. This study examines the association between ACI and ART, and delivery outcomes of women with ACI. A systematic review was conducted, and 16 studies (1990–2021) met the inclusion criteria. In the unadjusted pooled analysis (n = 10), ART was correlated with a higher rate of velamentous cord insertion (VCI) (odds ratio (OR) 2.14, 95% confidence interval (CI) 1.64–2.79), marginal cord insertion (n = 6; OR 1.58, 95%CI 1.26–1.99), and vasa previa (n = 1; OR 10.96, 95%CI 2.94–40.89). Nevertheless, the VCI rate was similar among the different ART types (blastocyst versus cleavage-stage transfer and frozen versus fresh embryo transfer). Regarding the cesarean delivery (CD) rate, women with VCI were more likely to have elective (n = 3; OR 1.13, 95%CI 1.04–1.22) and emergent CD (n = 5; OR 1.93, 95%CI 1.82–2.03). In conclusion, ART may be correlated with an increased prevalence of ACI. However, most studies could not exclude confounding factors; thus, further studies are warranted to characterize ART as a risk factor for ACI. In women with ACI, elective and emergent CD rates are high.

LITERATURE REVIEW: PLACENTAL MORPHOLOGY OF PREGNANT WOMAN WITH THE COVID-19

Placental disruption is an essential factor contributing to intrauterine fetal growth. Pregnant women who have been infected with Covid-19 will experience complications. One of the consequences of pregnant women have been infected with Covid-19 will cause delays in neural development in babies from the time they are in the womb. Delayed neural development in utero is associated with placental disorders. This study aims to review the literature on the placental product in pregnant women with Covid-19. The research was conducted by searching for journals on scientific sites using Covid-19 and Placenta. The study used articles published from 2018 to 2022. The results were 32 articles that stated that pregnant women with confirmed Covid-19 would have lower placental weight, dark placental color, and abnormal umbilical cord insertion. In conclusion, abnormal placentas were found in pregnant women with Covid19, but the Placenta also resembled the Placenta in women with diabetes and hypertension. More extensive studies are needed to elucidate the contribution of impaired placentation to delayed neurodevelopment in Covid-19 cases. Keywords: Covid-19, Pregnant mother, Placenta

Pregnant Woman With Abnormal Umbilical Cord Blood Flow

A 33-year-old woman at 30 weeks gestation presented to the emergency department with abnormal umbilical cord blood flow. Her vital signs were within normal limits. The pregnancy examinations had been previously uneventful, and 2 umbilical arteries had been seen on ultrasound during the second trimester of pregnancy. The color Doppler ultrasound of the fetal bladder plane showed only 1 umbilical artery, whereas the other could not be detected (Figure 1). The cross-sectional ultrasound images of the umbilical artery showed that the echo of 1 umbilical artery became solid, with its internal diameter narrowing, and no blood flow signal was detected (Figure 2, Video E1 [available at http://www.annemergmed.com]).

Intertwin membrane cord insertion in dichorionic twin pregnancy: The description and comparison with other umbilical cord insertion types.

Multiple pregnancy is associated with high perinatal mortality and morbidity. Abnormal cord insertions more common in twin pregnancies compared to singleton pregnancies and velamentous cord insertion is related with poor pregnancy outcomes. There is no definition of velamentous cord insertion into the intertwine membrane between two fetuses in the literature. In our single-center cross-sectional study, monochorionic-diamniotic and dichorionic-diamniotic twins who were admitted to our clinic between 18 + 0 and 23 + 6 weeks of pregnancy were enrolled in this study. We evaluated fetal, placental, and umbilical cord abnormalities in addition to fetal growth restrictions and weight discordance by ultrasonography. Although abnormal cord insertion frequency was significantly higher in monochorionic twins (p=0.003), intertwin membrane cord insertion could only occur in dichorionic twins. In cases with cord insertion anomaly; FGR and weight discordance was observed more frequently (p < 0.001 and p=0.003, respectively). Weight discordance, the presence of abnormal cord insertion and abnormal UAD were found as statistically significant predictors of FGR (p < 0.001, p=0.021, and p < 0.001, respectively). Intertwin membrane insertion is a novel umbilical cord insertion abnormality. The presence of abnormal umbilical cord insertion is a risk factor for poor pregnancy outcomes in twin pregnancies.

Value of proteinuria in assessing the severity of pre-eclampsia and its maternal and neonatal outcomes

Objective: To investigate the value of proteinuria in evaluating the severity of pre-eclampsia (PE) and assessing the maternal and neonatal outcomes of PE. Methods: The clinical records of 265 pregnant women who were diagnosed with PE at Peking Union Medical College Hospital from January 2011 to June 2021 were retrospectively analyzed. According to 24-hour urine protein (24-hUPro) results, pregnant women were divided into two groups: the non-proteinuric group (24-hUPro<0.3 g, n=10) and proteinuric group (24-hUPro≥0.3 g, n=255). The proteinuric group was further divided into 3 subgroups based on proteinuria levels: mild group (0.3 g≤24-hUPro<2.0 g, n=119), moderate group (2.0 g≤24-hUPro<5.0 g, n=59), and severe group (24-hUPro≥5.0 g, n=77). The demographic and clinical data, laboratory indicators, pregnancy complications, maternal and neonatal outcomes were compared between different groups. Results: In proteinuric subgroups, increased proteinuria was associated with earlier onset gestations, higher incidence of headache, peripheral tissue edema, serosal effusion, intrauterine growth restriction, and abnormal umbilical cord blood flow (all P<0.05). There were no significant differences in the incidence of placental abruption, eclampsia and maternal mortality among the three subgroups, but there were significant differences in the incidence of neonatal birth weight and multiple neonatal complications (all P<0.05). Compared with the proteinuric group, the non-proteinuric group showed later onset gestation (median:34.7 vs 37.6 weeks) and gestational age of delivery (median:36.0 vs 38.4 weeks), lower proportion of ocular vascular lesions [56.7% (135/238) vs 2/9], higher birth weight (median: 2 325 vs 2 750 g), and lower rate of neonatal intensive care unit occupancy [54.3%(127/234) vs 1/10;all P<0.05]. Conclusions: The proteinuria plays an important role in assessing the severity of PE and maternal and neonatal outcomes, but it is not the only indicator. The non-proteinuric PE pregnant women might still lead to severe maternal and neonatal outcomes.

"Role of Umbilical Cord Abnormalities in Pathogenesis of Acute Intrapartum Fetal Asphyxia and Perinatal Mortality"

"Role of Umbilical Cord Abnormalities in Pathogenesis of Acute Intrapartum Fetal Asphyxia and Perinatal Mortality"

The Influence of the Vanishing Twin on the Perinatal Outcome of Surviving Singleton in IVF Pregnancy.

ObjectiveThe purpose of this study was to clarify the influence of the vanishing twin (VT) on the perinatal outcomes in the surviving singleton and further identify the susceptible window.Study designRetrospective cohort study.MethodsA total of 636 survivors of a vanished co-twin and 11,148 singleton controls were enrolled. The exposed group was further divided into early VT (EVT, VT ≤13 weeks, N = 593) and late VT subgroups (LVT, VT >13 weeks, N = 43) according to the gestational age of the twin vanishing. All participants were conceived through in vitro fertilization (IVF). Perinatal outcomes including gestational age, birthweight, and the incidence of preterm birth (PTB), low birthweight (LBW), small for gestational age (SGA), neonatal intensive care unit (NICU) admission, umbilical cord abnormality, jaundice of the newborn, and oligohydramnios were compared among the groups.ResultsIn our birth cohort, about 5.4% of all singleton deliveries originated from vanishing twin pregnancies. Compared with the singletons, both early and late VT pregnancy had a significantly lower birth weight (3337.57±532.24 g and 2916.05±526.07 g vs. 3446.15±526.07 g; p < 0.001 and p < 0.001), more frequent neonatal jaundice (47.0% and 60.5% vs. 40.6%; p = 0.002 and p = 0.008), and decreased incidence of umbilical cord abnormality (15.5% and 7.0% vs. 19.9%; p = 0.009 and p = 0.034). Newborns in the early VT group were more likely to manifest as SGA (5.4% vs. 3.6%, p = 0.002) and suffered oligohydramnios (5.4% vs. 3.4%; p = 0.008) than the primary singletons. In addition, the gestational age of late VT survivors was shorter than that of the controls (37.25 ± 3.25 vs. 39.04 ± 1.63, p = 0.001) and had a significantly higher risk of PTB (30.2% vs. 6.6%; p < 0.001) and NICU admission (27.9% vs. 9.4%, p < 0.001). All differences except for SGA maintain significance after adjusting for maternal age, BMI, and parity.ConclusionsSingletons with a vanished co-twin had worse perinatal outcomes compared with the original singletons, with LVT burden even much on the survival one. Therefore, close monitoring during the perinatal period was suggested in this type of neonates. Moreover, elective single embryo transfer should also be fully considered which could tackle the problem at its root.

Fetal heart rate evolution patterns in cerebral palsy associated with umbilical cord complications: a nationwide study

BackgroundThe aim of the present study was to clarify fetal heart rate (FHR) evolution patterns in infants with cerebral palsy (CP) according to different types of umbilical cord complications.MethodsThis case–control study included children born: with a birth weight ≥2000 g, at gestational age ≥33 weeks, with disability due to CP, and between 2009 and 2014. Obstetric characteristics and FHR patterns were compared among patients with CP associated with (126 cases) and without (594 controls) umbilical cord complications.ResultsThere were 32 umbilical cord prolapse cases and 94 cases with coexistent antenatal umbilical cord complications. Compared with the control group, the persistent non-reassuring pattern was more frequent in cases with coexistent antenatal umbilical cord complications (p = 0.012). A reassuring FHR pattern was observed on admission, but resulted in prolonged deceleration, especially during the first stage of labor, and was significantly identified in 69% of cases with umbilical cord prolapse and 35% of cases with antenatal cord complications, compared to 17% of control cases (p < 0.001).ConclusionHypercoiled cord and abnormal placental umbilical cord insertion, may be associated with CP due to acute hypoxic-ischemic injury as well as sub-acute or chronic adverse events during pregnancy, while umbilical cord prolapse may be characterized by acute hypoxic-ischemic injury during delivery.

Abnormal placental cord insertion, hypertensive disorders of pregnancy and birth length may be involved in development of hypospadias in male fetuses.

ObjectivesHypospadias is a congenital disease characterized by morphological abnormalities of the penis, including abnormal urethral opening and penile flexion, which cause urination disorders and/or sexual intercourse difficulty. Various factors have been suggested to cause this anomaly, but evidence concerning risk factors causing this anomaly is insufficient. We evaluated the etiology of hypospadias in Japan using the Common Database of the National Hospitals' Neonatal study group.Study designWe retrospectively evaluated 7,865 male neonates registered in the NICU Common Database of the National Hospitals' Neonatal study group. The subjects were divided into two groups by the presence (n = 43) or absence (n = 7,822) of hypospadias. Statistical analyses were performed to compare nominal variables between the groups by Fisher's direct establishment calculation method and logistic regression analyses.ResultsA univariate analysis showed significant between‐group differences in hypertensive disorders in pregnancy (odds ratio [OR]: 4.02, 95% confidence interval [CI]: 1.95–7.90), placental weight <−1.28 standard deviation (SD; OR: 5.06, 95% CI: 2.45–10.32), abnormal placental cord insertion (OR: 4.7, 95% CI: 2.62–9.76), birth length <−2SD (OR: 10.56, 95% CI: 5.00–21.1) and birth weight <−2SD (OR: 8.17, 95% CI: 4.17–15.68). A multivariate analysis showed a significant between‐group difference in hypertensive disorders of pregnancy (adjusted OR [AOR]: 2.30, 95% CI: 1.09–4.85), abnormal placental cord insertion (AOR: 3.69, 95% CI: 1.83–7.44) and birth length <−2SD (AOR: 3.44, 95% CI: 1.26–9.42).ConclusionAbnormal placental cord insertion, hypertensive disorders of pregnancy and birth length may be involved in hypospadias development in male neonates in conjunction with placental dysfunction in early pregnancy.

Correlation of HMGB1, PON-1, MCP-1, and Periodontal P. gingivalis with Amniotic Fluid Fecal Dye.

Background This paper aims to investigate the correlation between high mobility group protein-1 (HMG-b1), antioxidant enzyme-1 (paraoxon-1, PON-1), monocyte chemoattractant protein-1 (monocyte chemoattractant protein-1, MCP-1), P. gingivalis, and MSAF. Materials and Methods The total sample size comprised of 73 cases in both groups. These patients were further subdivided into 2 groups: the MSAF group and the control group. 38 women were in the MSAF group and 35 women with term amniotic fluid serum were in the control group. The MSAF group was selected as a full-term singleton amniotic fluid fecal infection group. Clinical data were collected, and specimens were collected. Fecal staining of amniotic fluid and full-term amniotic fluid removes the placenta and umbilical cord blood. The expression of HMGB1 in the placenta was observed by immune-histochemical staining of MSAF and control groups. The content of PON-1 in cord blood was determined by ELISA. Results Correlation between maternal and neonatal clinical data and MSAF was done; MSAF group mean gestational age was 41.38 ± 1.40 weeks; control group mean gestational age was 39.20 ± 1.24 weeks. This study found no correlation between the birth weight, maternal age, sex, first/transmaternal, hyperthyroidism, hypothyroidism, and anemia between the MSAF and control group with nonsignificant P value (P > 0.05). However, the fatal age, gestational diabetes, gestational hypertension, umbilical cord abnormalities, placental abnormalities, and neonatal asphyxia factors were statistically different with a significant P value of <0.05 between both groups. HMGB1 and Periodontal P. gingivalis are mostly expressed in placental trophoblast, vascular endothelial cells, and amniotic epithelial and interstitial cells. After HE staining of 72 placentas by HE in MSAF and control, 6 had acute chorioamnionitis (5.1 control), 32 had chronic (23.9), 35 had abnormal placentas, and three in MSAF had chorionic columnar metaplasia. In immune-histochemistry experiments, the HMGB1 expression intensity of placental tissue was higher in the MSAF group (P < 0.05); however, the level of PON-1 was lower in the MSAF group as compared to the controls (P < 0.05). Conclusions Gestational age and placental abnormalities are clinical high-risk factors for MSAF. HMGB1, PON-1, MCP-1, and Periodontal P. gingivalis may be involved in the development of MSAF, suggesting an oxidative/antioxidant imbalance with inflammation, and may be one of the mechanisms for MSAF development.

Non-Assisted Hatching Trophectoderm Biopsy Does Not Increase The Risks of Most Adverse Maternal and Neonatal Outcome and May Be More Practical for Busy Clinics: Evidence From China

ObjectiveThis study was conducted in order to investigate whether non-assisted hatching trophectoderm (TE) biopsy increases the risks of adverse perinatal outcomes in livebirths following elective single cryopreserved-thawed blastocyst transfer.Patients and MethodsA total of 5,412 cycles from 4,908 women who achieved singleton livebirths between 2013 and 2019 were included in this retrospective cohort study. All embryos in this study were fertilized by intracytoplasmic sperm injection (ICSI) and cryopreserved through vitrification. The main intervention is to open the zona pellucida (ZP) of day 5/6 blastocyst immediately for biopsy without pre-assisted hatching. The main outcome measures are the common maternal and neonatal outcomes, including hypertensive disorders of pregnancy (HDPs), gestational diabetes mellitus (GDM), abnormal placentation, abnormalities in umbilical cord and amniotic fluid, preterm birth, cesarean section, low birth weight, postpartum hemorrhage, and prolonged hospital stay (both mothers and infants). The generalized estimation equation (GEE) was used to control the effects of repeated measurements. The non-conditional logistic regression model was used to examine the associations between embryo biopsy status and each adverse perinatal event. Given that the selection bias and changes in learning curve might affect the results, we selected 1,086 similar (matching tolerance = 0.01) cycles from the ICSI group via propensity score matching (PSM) for second comparisons and adjustment (conditional logistic regression).ResultsAfter adjusting for confounders, we confirmed that the non-assisted hatching protocol did not increase the risks of most adverse maternal and neonatal outcomes. Despite this, there were increased risks of GDM (aOR: 1.522, 95% CI: 1.141–2.031) and umbilical cord abnormalities (aOR: 11.539, 95% CI: 1.199–111.067) in the biopsy group. In the second comparisons after PSM, GDM incidence in the biopsy group was still higher (7.26% vs. 5.16%, P = 0.042), yet all measurement outcomes were equally likely to occur in both groups after the second adjustment.ConclusionsThe non-assisted hatching TE biopsy does not increase the risks of most adverse perinatal outcomes. However, there is a higher GDM incidence in the biopsy group, and this association warrants further study. Considering its safety and simplicity, the non-assisted hatching protocol has the potential to become the preferred option for TE biopsy, especially in busy clinics and IVF laboratories.

Long-term urology outcomes of anorectal malformation

Urological problems are a recognised feature of anorectal malformation (ARM). Previous assumptions of favourable long-term urinary outcomes are being challenged. We hypothesised that urinary tract problems are common in ARM and frequently persist into adulthood. We retrospectively reviewed long-term renal and bladder outcomes in ARM patients. Patients with ARM born between 1984-2005 were identified from electronic hospital databases. Their case notes were reviewed. Renal outcomes included serum creatinine and the need for renal replacement therapy. Bladder outcomes included symptom review, bladder medication, need for intermittent catheterisation, videourodynamics and whether the patient had undergone augmentation cystoplasty. RESULT (TABLE 1): The case notes of 50 patients were reviewed. The median age at last follow up was 18 years (range 12-34 years). The level of fistula was noted to be high in 17 patients, intermediate in eight, and low in 10. Four had cloaca. Congenital urological abnormalities were present in 25 (50%). An abnormal spinal cord was present in 22 (44%) patients. VACTERL association occurred in 27 (54%). Chronic kidney disease stage II or above was found in 14 (28%) patients, of whom four required a renal transplant. Abnormal bladder outcomes were found in 39 (78%) patients. Augmentation cystoplasty with Mitrofanoff had been performed in 12. Of those who had not undergone cystoplasty, 17 had urinary symptoms, including urinary incontinence in 12. Of the 39 patients with abnormal bladder outcome, 19 (49%) did not have a spinal cord abnormality. There was no significant statistical association between level of ARM and abnormal renal outcome or presence of bladder abnormality. Adverse renal and bladder outcomes are common in our cohort of young people with ARM with a significantly higher incidence compared with current literature. We did not demonstrate an association between level of ARM or presence of spinal cord anomaly with persistent bladder problems. Congenital urological anomalies are more common in those who later have an abnormal renal outcome. Although this difference is statistically significant, one fifth of patients born with anatomically normal upper tracts develop reduced renal function, implying an important acquired component. Bladder problems and reduced renal function affect a significant proportion of young adults with ARM. Neither adverse outcome is reliably predicted from ARM level, congenital urological anomaly or spinal cord anomaly. We advise continued long-term bladder and kidney follow-up for all patients with ARM.

Congenital heart defects and umbilical cord abnormalities, an unknown association?

Few studies exist that research the association between umbilical cord characteristics with cardiac malformations. In this study, we describe a population of newborns with congenital heart defects (CHD) and the frequency of presentation of umbilical cord (UC) alterations, based upon the hypothesis that the continuity of the cardio-placental circuit can be affected by similar noxas during early development. We carried out a descriptive study at a hospital in Bogota based on clinical records from newborns with congenital heart disease with placental and UC pathology results. Group analyses were done according to the major categories of the ICD-10. We analyzed 122 cases and found that the most frequent alterations where hypercoiling (27.9%) and abnormal UC insertion (16.4%). Additionally, in almost every group of CHD, more than 65%of patients had some type of cord alteration. We discovered a high frequency of UC alterations in patients with CHD. This outcome suggests that a possible association exists between the two phenomena, further research is needed.

Clinically Relevant Prenatal Ultrasound Diagnosis of Umbilical Cord Pathology.

Umbilical cord abnormalities are not rare, and are often associated with structural or chromosomal abnormalities, fetal intrauterine growth restriction, and poor pregnancy outcomes; the latter can be a result of prematurity, placentation deficiency or, implicitly, an increased index of cesarean delivery due to the presence of fetal distress, higher admission to neonatal intensive care, and increased prenatal mortality rates. Even if the incidence of velamentous insertion, vasa praevia and umbilical knots is low, these pathologies increase the fetal morbidity and mortality prenatally and intrapartum. There is a vast heterogeneity among societies’ guidelines regarding the umbilical cord examination. We consider the mandatory introduction of placental cord insertion examination in the first and second trimester to practice guidelines for fetal ultrasound scans. Moreover, during the mid-trimester scan, we recommend a transvaginal ultrasound and color Doppler assessment of the internal cervical os for low-lying placentas, marginal or velamentous cord insertion, and the evaluation of umbilical cord entanglement between the insertion sites whenever it is incidentally found. Based on the pathological description and the neonatal outcome reported for each entity, we conclude our descriptive review by establishing a new, clinically relevant classification of these umbilical cord anomalies.

EVALUATION OF UMBILICAL COILING INDEX AS A SCREENING TOOL FOR FETUSES AT RISK

BACKGROUND: The umbilical cord is the lifeline of the foetus as it supplies water, nutrients, and oxygen. Protection of these blood vessels is needed and provided by Wharton's Jelly, amniotic fluid and the helical pattern, or coiling, of the umbilical cord vessels. OBJECTIVES: To establish the relationship between antenatal umbilical cord coiling index (aUCI) measured at 16–20 weeks along with level II USG and adverse perinatal outcomes. METHODS:A cross-sectional study was conducted on 302 antenatal women, enrolled at the time of fetal anatomic survey, and their cord coiling index (aUCI) was measured, and its association with perinatal outcomes was observed. Umbilical coiling index was classified as Hypocoiled if UCI &lt;10th percentile, hypercoiled &gt;90th percentile, normocoiled between 10th and 90th percentile. RESULTS:302 antenatal women were enrolled for the study. Mean aUCI was 0.43 ± 0.30 (normocoiled group), 0.18 ± 0.4 (hypocoiled), and 0.53 ± 0.05 (hypercoiled group). The average gestational age at delivery in hypocoiled group was 36.8 ± 2.34 weeks, and it was shorter than 38.3 ± 1.82 weeks of the normocoiled group and 38.9 ± 1.72 weeks of the hypercoiled group. Mean birth weight observed was 2055 ± 744 (hypocoiled group), 3049 ± 564 (hypercoiled), and 3102 ± 564 (normocoiled) p&lt;0.001. Preterm births 52 (59%) and low birth weight 76 (69%) were significantly associated with hypocoiling. Abnormal umbilical cord coiling index, detected at the fetal ultrasound anatomic survey CONCLUSION: . In the second trimester (16–20 weeks), can be used potentially used as a screening or as a predictive tool for adverse antenatal or perinatal events.

Structural brain and spinal cord damage in symptomatic and pre-symptomatic VAPB-related ALS

IntroductionThe VAPB gene is associated with fALS (fALS 8). This disease presents a variable phenotype and no study sought to characterize its neuroanatomical abnormalities until now. This study aims to evaluate structural brain and spinal cord abnormalities in symptomatic and pre-symptomatic VAPB-related ALS. MethodsThis cohort included 10 presymptomatic and 20 symptomatic carriers of the Pro56Ser VAPB variant as well as 30 matched controls and 20 individuals with sporadic ALS. They underwent detailed clinical evaluation and MRI in a 3 T scanner. Using volumetric T1 sequence, we computed cerebral cortical thickness (FreeSurfer), basal ganglia volumetry (T1 Multi-atlas) and SC morphometry (SpineSeg). DTI was used to assess white matter integrity (DTI Multi-atlas). Groups were compared using a generalized linear model with Bonferroni-corrected p values<0.05. We also plotted VAPB brain expression map using Allen Human Brain Atlas to compare with imaging findings. ResultsMean age of presymptomatic and symptomatic subjects were 43.2 and 51.9 years, respectively. Most patients had a predominant lower motor neuron phenotype (16/20). Sleep complaints and tremor were the most frequent additional manifestations. Compared to controls, symptomatic subjects had pallidal, brainstem and SC atrophy, whereas presymptomatic only had SC atrophy. This pattern also contrasted with the sALS group that presented motor cortex and corticospinal abnormalities. Brain structural damage and VAPB expression maps were highly overlapping. ConclusionVAPB-related ALS has a distinctive structural signature that targets the basal ganglia, brainstem and SC, which are regions with high VAPB expression. Neuroanatomical SC changes are evident before clinical onset of the disease.

Current Perspectives on Umbilical Cord Abnormalities Including Blood Flow Parameters Based on Ultrasound Observations

The umbilical cord is a vital structure between the fetus and placenta for the growth and well-being of the fetus. Although the umbilical cord may be the only organ that dies at the beginning of life, it is one of the most important parts of the feta-placental unit and plays a role in determining how life begins. In general, the prenatal examination of the umbilical cord is limited to the observation of the number of vessels and the evaluation of umbilical artery blood flow parameters. Pathologists have done more research on the morphological characteristics of the umbilical cord and linked them to perinatal outcomes. The introduction of advanced imaging technology makes it possible to study the characteristics of fetal umbilical cord from early to late gestation. Many studies have shown that the changes of umbilical cord structure may be related to pathological conditions, such as preeclampsia, fetal growth restriction. Prenatal morphometric umbilical cord characteristics and arterial blood flow parameters in normal and pathologic conditions are discussed in this review.