Cord Abnormalities Research Articles

Caudal regression syndrome type 1 with minimally invasive computed tomography and magnetic resonance imaging autopsy: a case report

BackgroundCaudal regression syndrome is a rare complex congenital anomaly with reduced penetrance and phenotypic variability characterized by osseous defects of the caudal spine, lower limb anomalies, and accompanying genitourinary, gastrointestinal/anorectal, and cardiac system soft tissue defects. We report a rare presentation of type 1 caudal regression syndrome in a pregnant woman with preexisting diabetes, in which early recognition of severe fetal anomalies on routine antenatal ultrasound facilitated confirmation with fetal magnetic resonance imaging to characterize extent of disease and prognosticate fetal outcome.Case presentationThis case of type 1 caudal regression syndrome in the setting of maternal pregestational diabetes mellitus resulted in stillbirth. The mother was a 29-year-old Caucasian primigravida female with past medical history of poorly controlled type 2 diabetes managed with metformin prior to pregnancy, prompting admission for glucose management and initiation of insulin at 13 weeks. Baseline hemoglobin A1c was high at 8.0%. Fetal ultrasound at 22 weeks was notable for severe sacral agenesis, bilateral renal pelvis dilatation, single umbilical artery, and pulmonary hypoplasia. Fetal magnetic resonance imaging at 29 weeks showed absent lower two-thirds of the spine with corresponding spinal cord abnormality compatible with type 1 caudal regression syndrome. The mother delivered a male stillborn at 39 and 3/7 weeks. Minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy were performed to confirm clinical findings when family declined conventional autopsy. Etiology of sacral agenesis was attributed to poorly controlled maternal diabetes early in gestation.ConclusionMaternal preexisting diabetes is a known risk factor for development of congenital malformations. This rare case of type 1 caudal regression syndrome in a mother with preexisting diabetes with elevated hemoglobin A1c highlights the importance of preconception glycemic control in diabetic women and the utility of fetal magnetic resonance imaging for confirmation of ultrasound findings to permit accurate prognostication. Additionally, minimally invasive postmortem magnetic resonance imaging and computed tomography autopsy can facilitate diagnostic confirmation of clinical findings in perinatal death due to complex congenital anomalies while limiting the emotional burden on bereaved family members who decline conventional autopsy.

Outcome of monochorionic diamniotic twin pregnancy with selective intrauterine growth restriction, a single center study in China

IntroductionThis retrospective study aimed to evaluate clinical outcomes of monochorionic diamniotic (MCDA) twins with selective intrauterine growth restriction (sIUGR). Materials and methodsMCDA twins, either sIUGR and non-sIUGR, underwent expectant management from 2016 to 2019 in our hospital were included. sIUGR fetuses were classified into three types according to umbilical artery Doppler assessment. Non-sIUGR were considered as the control group. Outcomes were pregnancy outcomes and maternal complications. ResultsForty-three sIUGR (type I: 23; type II: 14, and type III: 6) and 282 non-sIUGR fetuses were included. The sIUGR group had a significantly earlier birth, lower birth weight of the twins, larger inter-twin weight difference, lower Apgar score of the twins, and higher intrauterine fetal death (IUFD) than the non-sIUGR group (all p < 0.001). The same trend was found in the sIUGR type II group compared to type I and III groups. A significantly lower gestational diabetes rate (p = 0.01) and placenta weight (p < 0.001), and higher proportions of abnormal placental umbilical cord insertion (p < 0.001), and ultrasound Doppler monitoring indicators (p = 0.006) were found in the sIUGR group than the non-sIUGR group. ConclusionsThe MCDA twins with sIUGR showed poorer outcomes than the non-sIUGR group. Doppler interrogation was a useful clinical marker for fetal outcome.

Glial Fibrillary Acidic Protein (GFAP) Astrocytopathy: An Emerging Cause of Meningoencephalomyelitis in Children and Adolescents.

Introduction: We describe 5 children with GFAP astrocytopathy with the goal of further characterizing this rare form of meningoencephalomyelitis. Methods: Retrospective chart review of patients diagnosed with GFAP astrocytopathy between 2019 and 2021. Results: Patients were 8-17 years old, and all were male. Fever, headache, and vomiting were common presenting symptoms, and weakness, tremor, and ataxia were common initial examination findings. Initial magnetic resonance imaging (MRI) showed spinal cord abnormalities in 2 patients and leptomeningeal enhancement in 1. Most patients had cerebral spinal fluid pleocytosis, and all screened negative for malignancy. Three patients progressed to coma, and all were treated with immunosuppressant therapy. By discharge, all patients had improved over their clinical nadir, although none had returned to baseline. Discussion: GFAP astrocytopathy is a recently recognized cause of meningoencephalomyelitis in children. Here, we expand our understanding of this entity with the goal of aiding those treating children with GFAP astrocytopathy.

Fetal growth changes and prediction of selective fetal growth restriction following fetoscopic laser coagulation in twin-to-twin transfusion syndrome.

To investigate fetal growth changes and predictive factors for selective fetal growth restriction (sFGR) in patients with twin-to-twin transfusion syndrome (TTTS) after fetoscopic laser coagulation (FLC). This retrospective study included twin-pregnant women with fetal TTTS who underwent FLC at our institution between 2011 and 2020. Twin pairs who survived at least 28 days after FLC and at least 28 days after birth were included. A paired t-test was used to compare the mean discordance between the estimated fetal weights at the FLC and the birth weights. The predictive factors for sFGR after FLC were evaluated using univariate and multivariate logistic regression analyses. A total of 119 eligible pairs of patients who underwent FLC were analyzed. The weight percentile at birth significantly decreased after FLC in the recipients (53.7±30.4 percentile vs. 43.7±28.0 percentile; P<0.001), but increased in the donors (11.5±17.1 percentile vs. 20.7±22.8 percentile; P<0.001). Additionally, the mean weight discordance of twin pairs significantly decreased after FLC (23.9%±12.7% vs. 17.3%±15.7%; P<0.001). After FLC, Quintero stage ≥3, pre-FLC sFGR, abnormal cord insertion, and post-FLC abnormal umbilical artery Doppler (UAD) were all significantly higher in the sFGR group than the non-sFGR group. The prediction model using these variables indicated that the area under the receiver operating characteristic curve was 0.898. The recipient weight percentile decreased, whereas donor growth increased, resulting in reduced weight discordance after FLC. The Quintero stage, pre-FLC sFGR, and post-FLC abnormal UAD were useful predictors of sFGR after FLC in TTTS.

Prenatal imaging of the normal and abnormal spinal cord: recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee.

Spinal dysraphisms are amenable to diagnosis in utero. The prognosis and the neonatal management of these conditions differ significantly depending on their types, mainly on the distinction between open and closed defects. A detailed evaluation not only of the fetal spine, but also of the brain, skull, and lower limbs is essential in allowing for the right diagnosis. In this article, recommendations from the Fetal Task Force ofthe European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee will be presented. The aim of this paper is to review the imaging features of the normal and abnormal fetal spinal cord, to clarify the prenatal classification of congenital spinal cord anomalies and to provide guidance in their reporting.

EP17.04: Abnormal umbilical cord coiling index diagnosed prenatally is a predictor for adverse perinatal outcomes

EP17.04: Abnormal umbilical cord coiling index diagnosed prenatally is a predictor for adverse perinatal outcomes

EP17.03: Impact of abnormal placental cord insertion on hemodynamic change of umbilical cord

EP17.03: Impact of abnormal placental cord insertion on hemodynamic change of umbilical cord

EP16.11: Abnormal placental cord insertion increases in the lateral placenta of older pregnant women

EP16.11: Abnormal placental cord insertion increases in the lateral placenta of older pregnant women

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

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. 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. 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. 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.

Gross and Histologic Placental Abnormalities Associated With Neonatal Hypoxic-Ischemic Encephalopathy.

To elucidate particular placental pathology findings that are associated with hypoxic ischemic encephalopathy (HIE) and determine which patterns are associated with adverse fetal/neonatal outcomes. Multi-institutional retrospective case-control study of newborns with HIE (2002-2022) and controls. Four perinatal pathologists performed gross and histologic evaluation of placentas of cases and controls. A total of 265 placentas of neonates with HIE and 122 controls were examined. Infants with HIE were more likely to have anatomic umbilical cord abnormalities (19.7% vs 7.4%, P = .003), fetal inflammatory response in the setting of amniotic fluid infection (27.7% vs 13.9%, P = .004), and fetal vascular malperfusion (30.6% vs 9.0%, P = <.001) versus controls. Fetal vascular malperfusion with maternal vascular malperfusion was more common in those who died of disease (P = .01). Placental pathology examination of neonates with HIE may improve our understanding of this disorder and its adverse outcomes.

Ultrasound Doppler Findings in Fetal Vascular Malperfusion Due to Umbilical Cord Abnormalities: A Pilot Case Predictive for Cerebral Palsy.

Fetal Vascular Malperfusion (FVM), a pathologic condition in the feto-placental circulation, is a chronic vaso-occlusive disorder in the umbilical venous blood flow. Microthrombi are caused by the umbilical cord's blood flow deficiency in a congested umbilical vein, which also causes microvascular damage to fetal organs, especially the brain, resulting in cerebral palsy. Thrombo-occlusive events also adversely affect the upstream chorionic or stem vessels in the placenta, resulting in fetal growth restriction and fetal hypoxia. An umbilical cord structural anomaly or multiple entanglements may involve FVM. In the present report, we demonstrate a case of FVM caused by multiple umbilical cord abnormalities obtained from antenatal ultrasound Doppler findings, and we also discuss FVM, which is chronically associated with CP, comparing the ultrasonographic findings to the pathologic findings.

Ultrasound evaluation of pathophysiology in fetal thrombo-vasculopahy due to umbilical cord abnormalities

Ultrasound evaluation of pathophysiology in fetal thrombo-vasculopahy due to umbilical cord abnormalities

Perinatal Mortality Despite Prenatal Diagnosis of Vasa Previa: A Systematic Review.

To determine the causes and potential preventability of perinatal deaths in prenatally identified cases of vasa previa. Reports of prenatally identified cases of vasa previa published in the English language literature since 2000 were identified in Medline and ClinicalTrials.gov with the search terms "vasa previa," "abnormal cord insertion," "velamentous cord," "marginal cord," "bilobed placenta," and "succenturiate lobe." All cases from the above search with an antenatally diagnosed vasa previa present at delivery in singleton or twin gestations with perinatal mortality information were included. Cases meeting inclusion criteria were manually abstracted, and multiple antenatal, intrapartum, and outcome variables were recorded. Deaths and cases requiring neonatal transfusion were analyzed in relation to plurality, routine hospitalization, and cervical length monitoring. A total of 1,109 prenatally diagnosed cases (1,000 singletons, 109 twins) were identified with a perinatal mortality rate attributable to vasa previa of 1.1% (95% CI 0.6-1.9%). All perinatal deaths occurred with unscheduled deliveries. The perinatal mortality rate in twin pregnancies was markedly higher than that in singleton pregnancies (9.2% vs 0.2%, P<.001), accounting for 80% of overall mortality despite encompassing only 9.8% of births. Compared with individuals with singleton pregnancies, those with twin pregnancies are more likely to undergo unscheduled delivery (56.4% vs 35.1%, P=.01) despite delivering 2 weeks earlier (33.2 weeks vs 35.1 weeks, P=.006). An institutional policy of routine hospitalization is associated with a reduced need for neonatal transfusion (0.9% vs 6.0%, P<.001) and a reduction in the perinatal mortality rate in twin pregnancies (0% vs 25%, P=.002) but not in singleton pregnancies (0% vs 0.5%, P=.31). Routine hospitalization and earlier delivery of twins may result in a reduction in the perinatal mortality rate. A smaller benefit from routine admission of individuals with singleton pregnancies cannot be excluded. There is currently insufficient evidence to recommend the routine use of cervical length measurements to guide clinical management.

Prediction of postnatal abnormal umbilical cord coiling by antenatal evaluation in pregnant women: Diagnostic accuracy study; a systematic review.

Umbilical cord abnormalities increase neonatal morbidity and mortality. Considering uncertainties about the best time of an antenatal ultrasonography scan to evaluate the umbilical coiling index (UCI), this systematic review was designed to assess the diagnostic accuracy value of antenatal ultrasound assessments to predict abnormal postpartum UCI. All observational, cross-sectional, case-control, cohort, and diagnostic accuracy studies up to March 26, 2022, were searched and assessed according to PRISMA guidelines in Ovid, Cochrane, Scopus, PubMed, Web of Science, Embase, Proquest, Science Direct, and Clinical Key databases, and Google Scholar search engine. The total number of 63 190 documents were retrieved from databases. The duplicates (19 272) were removed, 43 918 articles were screened for relevance, and 56 papers were selected for full-text evaluation, resulting in 14 qualified pieces subjected to the quality CASP tools for each type of study. Finally, six articles were evaluated, extracted, and confirmed. Overall, we had 16 evaluations (11 normal pregnancies, 4 gestational diabetes mellitus, and 1 group at risk for small gestational age), from which 9 and 7 were respectively performed in the second and third trimesters. Most of the evaluations considered both hypocoiling and hypercoiling. The sensitivity, specificity, and area under curves (AUCs) change range between the evaluations were 0.09-0.97, 0.59-0.96, and 0.262-0.84, respectively. Observing any coiling abnormalities in every trimester, both the second and third, is highly sensitive to predicting abnormal postnatal UCI (pUCI). Conclusively, any detected antenatal abnormality is worth attention. Both trimesters' evaluations are essential, and no superiority is seen for any of them. The systematic review revealed statistical and clinical heterogeneity; a meta-analysis was impossible.

Prenatal diagnosis of bilobate placenta: incidence, risk factors and impact on pregnancy outcomes.

To investigate the incidence and risk factors of bilobate placenta, as well as to assess its impact on preeclampsia (PE), preterm delivery (PTD) and small-for-gestational age (SGA)neonates. A prospective study of singleton pregnancies, undergoing routine anomaly scan at 20+0-23+6 gestational weeks, was conducted, between 2018 and 2022. The impact of prenatally diagnosed bilobate placenta on PE, PTD and SGA was assessed. Multivariate logistic regression models were employed to assess the independent association between bilobate placenta and the main pregnancy outcomes, using specific confounders. Additionally, a risk factor analysis was performed. The study population included 6,454 pregnancies; the incidence of prenatally diagnosed bilobate placenta was 2.0 % (n=129). Bilobate placenta was associated with PE (aOR: 1.721; 95 % CI: 1.014-2.922), while no statistically significant association was found between this anatomical variation and SGA (aOR: 1.059; 95 % CI: 0.665-1.686) or PTD (aOR: 1.317; 95 % CI: 0.773-2.246). Furthermore, pregnancies with prenatally diagnosed bilobate placenta had an increased prevalence of abnormal cord insertion (marginal or velamentous) (9.8 vs. 27.1 %; p<0.001) and increased mean UtA PI z-score (0.03 vs. 0.23; p=0.039). Conception via ART (aOR: 3.669; 95 % CI: 2.248-5.989), previous history of 1st trimester miscarriage (aOR: 1.814; 95 % CI: 1.218-2.700) and advancing maternal age (aOR: 1.069; 95 % CI: 1.031-1.110) were identified as major risk factors for bilobate placenta. Bilobate placenta, excluding cases of co-existing vasa previa, is associated with higher incidence of PE, increased mean UtA PI z-score and higher probability of abnormal cordinsertion, but not with increased risk for SGA or PTD. It is more common in pregnancies following ART and in women with a previous 1st trimester miscarriage.

MRI assessment of cervical spinal cord cross-sectional area in patients with multiple sclerosis.

Spinal cord abnormalities including cervical cord atrophy are common in multiple sclerosis (MS). This study aimed to assess the cervical spinal cord cross-sectional area (CSA) using magnetic resonance imaging (MRI) in MS patients. Sixty participants were enrolled in this study (16 male and 44 female), 30 patients with MS, diagnosed according to the revised McDonald criteria, and 30 apparently healthy individuals as the control group. CSA of the spinal cord was measured on axial T2-weighted images of the cervical MRI studies from C2 to C7 vertebral levels. There was a significant difference between MS patients and the control group in mean CSA at a different level. The mean CSA at C2, in MS cases, was significantly lower than controls (67.7 ± 9.4 mm2 vs. 81.3 ± 4.6 mm2). Similarly, the mean CSA at C7 (64.4 ± 9.9 mm2) and average C2-7 (68 ± 9.1 mm2) of MS cases were significantly lower than the control. There was a strong inverse correlation between mean cervical cord CSA and duration of the disease and disability score. The reduction in cervical cord CSA was more prominent in patients with secondary progressive MS. There was no significant difference regarding age, gender, type of treatment, or the number of cervical cord lesions. The mean CSA was significantly lower in patients with MS than in the control group and was lesser in progressive types. Patients with a longer duration of MS and a high disability score tend to have smaller CSA.

Relationship between gestational weight gain during different phases and maternal complications or neonatal outcomes.

Improper gestational weight gain (GWG) causes many adverse obstetrical and neonatal outcomes. This study evaluates the relationship between weight gain in different phases and maternal outcomes or neonatal outcomes. Finally, this study recruited 2,608 women delivered at Fujian Provincial Maternity and Child Health, affiliated hospital of Fujian Medical University from December 2017 to January 2019. To evaluate the relationship between maternal outcome and neonatal outcome, the participants were divided into four groups based on their baseline BMI and weight gain in the second/third trimester of pregnancy. This study demonstrated that neonate weight, small-for-gestational-age infants, macrosomia, neonatal death, cesarean delivery, and GDM significantly differed across the baseline BMI, weight gain in the second and third trimester. The umbilical cord's abnormality, bulging membrane, abruptio placentae, and postpartum hemorrhage were significantly related to baseline BMI. Furthermore, gestational hypertension and pre-eclampsia/eclampsia were significantly correlated with baseline BMI and weight gain in the second trimester. The maternal and infant outcomes are different, and the GWG curves are significantly different. Finally, multivariate regression analysis showed that baseline BMI and weight gain in the second/third trimester were the independent risk factors for GDM and macrosomia. Also, baseline BMI and weight gain in the third trimester were the independent risk factors for developing gestational hypertension and pre-eclampsia/eclampsia, respectively. The baseline BMI and weight gain in the second/third trimester are significant with maternal outcomes and neonatal outcomes to a varying degree. Thus, maintaining appropriate baseline BMI and weight gain in different phases are essential in preventing pregnancy complications and maternal and neonatal prognosis.

Analysis of characteristic features in ultrasound diagnosis of fetal limb body wall complex during 11-13+6 weeks.

Limb body wall complex (LBWC) is a fatal malformation characterized by major defects in the fetal abdominal or thoracic wall, visceral herniation, significant scoliosis or spina bifida, limb deformities, craniofacial deformities, and umbilical cord abnormalities (short or absent umbilical cord). Early diagnosis of this condition is of great clinical significance for clinical intervention and pregnancy decision-making. With the rapid development of fetal ultrasound medicine, early pregnancy (11-13+6 wk) standardized prenatal ultrasound examinations have been widely promoted and applied. To explore the value of prenatal ultrasound in the diagnosis of fetal LBWC syndrome during early pregnancy. The ultrasonographic data and follow-up results of 18 cases of fetal LBWC diagnosed by prenatal ultrasound during early pregnancy (11-13+6 wk) were retrospectively analyzed, and their ultrasonographic characteristics were analyzed. Among the 18 fetuses with limb wall abnormalities, there were spinal dysplasia (18/18, 100%), varying degrees of thoracoschisis and gastroschisis (18/18, 100%), limb dysplasia in 6 cases (6/18, 33%), craniocerebral malformations in 4 cases (4/18, 22%), thickening of the transparent layer of the neck in 5 cases (5/18, 28%), and umbilical cord abnormalities in 18 cases (18/18, 100%), single umbilical artery in 5 cases. Prenatal ultrasound in early pregnancy can detect LBWC as early as possible, and correct prenatal evaluation provides important guidance value for pregnancy decision-making and early intervention.

Spinal Cord Signal Intensity Predicts Functional Outcomes in the Operative Management of Degenerative Cervical Myelopathy.

Prospective single institutional cohort study on degenerative cervical myelopathy (DCM) from 2009 to 2022. This study aims to assess the relationship among preoperative spinal cord signal change, postoperative signal change evolution, and functional outcome in patients undergoing surgery for DCM. There is conflicting evidence on whether spinal cord signal intensity influences functional outcomes in patients with DCM. This prospective study investigated 104 patients with DCM that underwent both preoperative and routine postoperative cervical spine magnetic resonance imaging (MRI) as part of a research protocol. Signal intensity/grade, modified Japanese Orthopedic Association (mJOA) scores, signal resolution, and patient demographics were assessed. Sixty-eight of the subjects were found to have abnormal T2 spinal cord signal intensity changes on their preoperative MRI. The total mean preoperative mJOA score was 13.6, increasing postoperatively to 16 (P < 0.001). The presence or absence of preoperative spinal cord signal change was not associated with the change in mJOA score or neurological recovery rate after surgery. Of the 68 patients with preoperative T2 signal change, 36 were found to have an improvement in the T2-weighted signal grade after surgery and 32 had no change in postoperative signal grade. The mean improvement in mJOA score (3.7) and neurological recovery rate (70.3%) was significantly higher in the patients with preoperative signal change whose postoperative MRI signal change grade improved by at least one point compared with those that did not (2.0, 50.5%), (P < 0.001, P < 0.003). The presence of preoperative T2-weighted signal change was associated with lower preoperative mJOA scores, but no change in mJOA after surgery or postoperative neurological recovery rate. However, improvement in T2-weighted spinal cord signal grade on postoperative MRI was significantly associated with a degree of neurological improvement after surgery.

Protective effectiveness of electrospinning fibrous membrane in inguinal hernia repair

Polypropylene (PP) mesh is one of the most widely used artificial meshes to treat hernias. It has many advantages but can also cause chronic inflammation, pain, and adhesion. In inguinal hernia repair, PP mesh may have a negative effect on the reproductive system. In this study, the protective effect of an electrospun fibrous membrane was investigated in an autologous control experiment of inguinal hernia repair in rabbits. Tissue adhesions, obstructions of the spermatic cord, orchiatrophy, and reproductive system abnormalities were highly correlated and mainly appeared soon after implantation. The fibrous membrane, which serves as a biocompatible physical barrier, successfully reduced the deformity and dysfunction of the spermatic cord, testicle, and reproductive system, while polypropylene mesh caused severe damage. In the sub-chronic and chronic stages, at 90 and 180 days, respectively, the peritonealization of the remaining mesh was in the process while the fibrous membrane was degrading. The structure and function of the spermatic cord, testicle, and reproductive system were well protected and maintained because the newly formed tissue prevented contact between the mesh and the spermatic cord. Thus, introducing a fibrous membrane in inguinal hernia repair reduces the adverse effects of polypropylene mesh.