Ultrasound Abnormalities Research Articles

The genetics and clinical outcomes in 151 cases of fetal growth restriction: A Chinese single-center study

ObjectiveTo determine the detection rate of chromosomal abnormalities and pregnancy outcomes in fetuses with intrauterine growth restriction.Study designA total of 151 fetal samples with intrauterine growth restriction were divided into the isolated fetal growth restriction (FGR) group, FGR group with structural malformation, and FGR group with non-structural malformation, according to ultrasound abnormalities. The enrolled patients were divided into an early onset FGR group (<32 weeks) and a late-onset FGR group (≥32 weeks). Chromosomal karyotype and microarray analyses were performed and pregnancy outcomes were monitored.ResultsThe karyotypes of 122 patients were analyzed. Four patients exhibited abnormal chromosome numbers or structures. Variations in copy number were detected in 151 cases; 19 cases were found to have chromosomal abnormalities, with a positivity rate of 12.6 %. There was one trisomy in 18 cases, one trisomy in 21 cases, eight pathogenic copy number variations (CNVs), and nine CNVs of unknown clinical significance. The detection rate of FGR combined with structural malformation was significantly higher than that of isolated FGR group. The detection rate of FGR with structural malformations was significantly higher than that with non-structural malformations. The positive detection rate in the FGR group was similar to that in the FGR group with non-structural malformations, with no statistical significance. Chromosomal abnormalities were detected in 17 patients with early onset FGR, with a positivity rate of 13.8 %. Two cases of chromosomal abnormalities were detected in the late-onset FGR group, with a positive rate of 7.1 %, with no statistical significance. A total of 151 fetuses with FGR were followed up for pregnancy outcomes, resulting in 36 cases of pregnancy termination and 13 cases of loss to follow-up. Among the 102 delivered fetuses, six exhibited delayed growth and development, one presented with hypospadias, and another failed the hearing screening. The remaining 94 fetuses demonstrated normal growth and development.ConclusionsThis study confirms the value of CNV detection in fetuses and dynamic ultrasound monitoring for fetuses with intrauterine growth restriction.

Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly.

Genetic etiology plays a critical role in fetal ventriculomegaly (VM). However, the studies on chromosomal copy number variants (CNVs) in fetal VM are limited. This study aimed to investigate the chromosomal CNVs in fetuses with mild to moderate VM, and explore its genotype-phenotype correlation. A total of 242 fetuses with mild to moderate VM detected by prenatal ultrasound were enrolled in our study from October 2018 to October 2022. All cases underwent chromosomal microarray analysis (CMA) and G-banding simultaneously. All VM cases were classified different subgroups according to the maternal age, severity, VM distribution and presence/absence of other ultrasound abnormalities. The pregnancy outcomes and health conditions after birth were followed up. We also performed a pooled analysis regarding likely pathogenic and pathogenic CNVs (LP/P CNVs) for VM. The detection rate of chromosomal abnormalities by karyotyping was 9.1% (22/242), whereas it was 16.5% (40/242) when CMA was conducted (P < 0.05). The total detection rate of chromosomal abnormalities by karyotyping and CMA was 21.1% (51/242). A 12.0% incremental yield of CMA over karyotyping was observed. The detection rate of total genetic variants in fetuses with bilateral VM was significantly higher than in fetuses with unilateral VM (30.0% vs. 16.7%, P = 0.017). No significant differences were discovered between isolated VM and non-isolated VM, or between mild and moderate VM, or between advanced maternal age (AMA) and non-AMA (all P > 0.05). 28 fetuses with VM were terminated and 214 fetuses were delivered: one presented developmental delay and one presented congenital heart disease. The VM cases with both positive CMA and karyotypic results had a higher rate of termination of pregnancy than those with either a positive CMA or karyotypic result, or both negative testing results (P < 0.001). The combination of CMA and karyotyping should be adopted to improve the positive detection rate of chromosomal abnormalities for VM. The total genetic abnormalities detected using both techniques would affect the final pregnancy outcomes. LP/P CNVs at 16p11.2, 17p13, and 22q11.21 were identified as the top three chromosomal hotspots associated with VM, which would enable genetic counselors to provide more precise genetic counseling for VM pregnancies.

Musculoskeletal ultrasound abnormalities in asymptomatic hyperuricemic patients: Association with cardiovascular risk factors

To assess the relation between musculoskeletal ultrasound (MSUS) abnormalities and cardiovascular risk factors in asymptomatic and symptomatic hyperuricemic patients. The study included 66 hyperuricemic patients. 33 were asymptomatic and 33 were symptomatic. The socio-demographic features, body mass index (BMI), blood pressure measurement and musculoskeletal examination were recorded. Serum uric acid (SUA), serum creatinine (s.Cr.), total cholesterol, high density lipoprotein (HDL) and triglycerides (TG) were measured and estimated glomerular filtration rate (e GFR) was calculated using chronic kidney disease-epidemiology collaboration (CKD-EPI). Cardiovascular risk was calculated using Systematic Coronary Risk Evaluation of the European Society of Cardiology (SCORE/ESC) and Atherosclerotic Cardiovascular Disease of American College of Cardiology (ASCVD/ACC). MSUS of the knees, ankles and 1st metatarsophalangeal joints (MTPs) was performed and specific gout signs (aggregates, double contour and tophi) were assessed. There was no association between MSUS abnormalities and either individual or overall cardiovascular risk factors except the negative correlation between the age and the high density lipoprotein (HDL) level and the positivity of the patients (presence of at least one of the specific gout sign "aggregates, double contour or tophi" in at least one out of the six assessed joints "both knees, ankles and 1st MTPs" among the symptomatic group. The association between MSUS abnormalities and cardiovascular risk factors in the hyperuricemic patients is not yet clear and further studies are needed to introduce it as a screening modality for these patients.

Ultrasonographic Evaluation of the Ankle Joint in Relation to Rheumatoid Factor Status and Disease Activity in Patients with Rheumatoid Arthritis

Abstract Background: Rheumatoid arthritis (RA) is a form of inflammatory disease whose clinical pattern is largely dependent on the presence of both anti-citrullinated protein antibodies and rheumatoid factor (RF). Although this is still debatable, seronegative RA seems to be a somewhat less serious condition. The present study aimed to evaluate ankle joint ultrasound in relation to RF status and disease activity in RA patients. Methods: A cross-sectional study involving RA patients from a single center was conducted. Laboratory test evaluations and clinical activity assessments were carried out. The ankle joint was examined using musculoskeletal ultrasound (US). Results: The study included 100 patients with established RA in total. Eighty-two patients tested positive for RF with a mean age of 42.3, whereas only 18 tested negative with a mean age of 39.6. Patients who tested positive for RF had a longer duration of illness (9.39 ± 5.39 vs. 4.56 ± 3.24). There were no differences in clinical activity scores between the seropositive and seronegative groups. The pathological US findings of any ankle joint showed no differences between the seropositive and seronegative groups. Patients with US findings of tibialis posterior tenosynovitis in the left ankle and synovitis and erosion in the right ankle, particularly in the tibiotalar and talonavicular joints, had significantly high Disease Activity Score 28-Erythrocyte sedimentation rate-scores. The increased disease activity was accompanied by significant erosions on both ankles. Conclusion: In terms of disease activity, there is no clinically significant difference between seropositive and seronegative RA patients. Sonographic ankle joint abnormalities do not appear to be associated with the patients’ RF status. High RA disease activity, on the other hand, is associated with synovitis and erosions, particularly in the talonavicular and tibiotalar joints, as well as tibialis posterior tenosynovitis.

Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study

BackgroundUniparental disomy is the inheritance of a homologous chromosome pair or part of homologous chromosomes from only one parent. However, the clinical significance of uniparental disomy and the difference among the prognosis of involvement of different chromosomes remain unclear.ObjectiveTo assess the associated prenatal ultrasound presentations and clinical outcomes of uniparental disomy on different chromosomes and to analyze the relationship between prenatal ultrasound markers and clinical outcomes.Study designWe retrospectively analyzed data from fetuses with uniparental disomy diagnosed using chromosome microarray analysis with the Affymetrix CytoScan HD array at our institution between January 2013 and September 2022. The relationship between prenatal ultrasound findings, the involved chromosome(s), and clinical outcomes was evaluated.ResultsDuring the study period, 36 fetuses with uniparental disomy were diagnosed, and two cases were excluded for non-available postnatal data. Finally, 34 fetuses were included in our study, of which 30 (88.2%) had uniparental disomy occurring on a single chromosome, while four (11.8%) were identified with uniparental disomy on different chromosomes. The most frequently involved chromosomes were chromosomes 16, X and 2, which presented in 8 (23.5%), 5 (14.7%) and 4 (11.8%), respectively. Prenatal ultrasound abnormalities were detected in 21 fetuses, with the most common category being multiple abnormalities (12 (57.1%)). Fetal growth restriction was identified in 14 (41.2%) fetuses, all of which coexisted with other abnormal findings. The rate of adverse perinatal outcomes in patients with uniparental disomy and fetal abnormalities was significantly higher than those without abnormalities (76.2% versus 15.4%, P = 0.002). The incidence of fetal or neonatal death was significantly higher in fetuses with fetal growth restriction than those without (85.7% versus 30.0%, P = 0.004).ConclusionsThe prognosis of fetuses with uniparental disomy combined with fetal abnormalities, especially fetal growth restriction, was much poorer than those without.

The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities.

Chromosomal microarray analysis (CMA) has emerged as a critical instrument in prenatal diagnostic procedures, notably in assessing congenital heart diseases (CHD). Nonetheless, current research focuses solely on CHD, overlooking the necessity for thorough comparative investigations encompassing fetuses with varied structural abnormalities or those without apparent structural anomalies. This study sought to assess the relation of single nucleotide polymorphism-based chromosomal microarray analysis (SNP-based CMA) in identifying the underlying causes of fetal cardiac ultrasound abnormalities. A total of 2092 pregnant women who underwent prenatal diagnosis from 2017 to 2022 were included in the study and divided into four groups based on the presence of ultrasound structural abnormalities and the specific type of abnormality. The results of the SNP-Array test conducted on amniotic fluid samples from these groups were analyzed. Findings from the study revealed that the non-isolated CHD group exhibited the highest incidence of aneuploidy, overall chromosomal abnormalities, and trisomy 18, demonstrating statistically significant differences from the other groups (p < 0.001). Regarding the distribution frequency of copy number variation (CNV) segment size, no statistically significant distinctions were observed between the isolated CHD group and the non-isolated CHD group (p > 0.05). The occurrence rates of 22q11.2 and 15q11.2 were also not statistically different between the isolated CHD group and the non-isolated congenital heart defect group (p > 0.05). SNP-based CMA enhances the capacity to detect abnormal CNVs in CHD fetuses, offering valuable insights for diagnosing chromosomal etiology and facilitating genetic counseling. This research contributes to the broader understanding of the utility of SNP-based CMA in the context of fetal cardiac ultrasound abnormalities.

Neuroimaging Markers for Differential Diagnosis Between Multifocal Motor Neuropathy and Multifocal Acquired Demyelinating Sensory and Motor Neuropathy

Introduction. Similar asymmetric patterns of motor disorders and neurophysiological changes complicate the differential diagnosis between multifocal motor neuropathy (MMN) and multifocal acquired demyelinating sensory and motor neuropathy (MADSAM) as two chronic dysimmune neuropathies with significantly different treatment approaches. The lack of specific paraclinical markers often result in misdiagnosis and selection of ineffective specific therapy. Identification of specific neuroimaging biomarkers to differentiate these conditions may improve diagnostic approaches.&#x0D; Objective: To identify neuroimaging markers for the differential diagnosis between MMN and MADSAM.&#x0D; Materials and methods. The study included 65 participants, particularly 30 individuals with MMN and 35 individuals with MADSAM followed up in the Center of Peripheral Nervous System Diseases, Research Center of Neurology, Moscow, Russia. We retrospectively analyzed their clinical and epidemiological characteristics as well as ultrasonography and magnetic resonance imaging (MRI) findings.&#x0D; Results. Ultrasonography was performed on the peripheral nerves of the upper extremities, the spinal nerves, and the brachial plexus. The results showed that participants with MADSAM had significantly greater cross-sectional areas (CSAs) and a higher incidence of intraneural ultrasonographic abnormalities compared to participants with MMN. CSA thresholds of the median nerves were identified using ROC analysis to differentiate between MMN and MADSAM. MRI scans of the brachial plexus revealed no abnormalities in 41.4% of the individuals with MMN and 27.3% of the individuals with MADSAM. Meanwhile, STIR hyperintense signal from the brachial plexus was most typical ( 70%) for the MADSAM group.&#x0D; Conclusions. This was the first detailed comparative analysis of neuroimaging findings in a large sample of patients with either MMN or MADSAM in Russia. Ultrasonographic markers for differential diagnosis have been determined. The advantages and limitations of ultrasonography and MRI of the brachial plexus and the spinal and peripheral nerves in diagnosing multifocal chronic dysimmune neuropathies have been demonstrated.

Indicated vs universal third-trimester ultrasound examination in low-risk pregnancies: a pre-post-intervention study

In low-risk pregnancies, a third-trimester ultrasound examination is indicated if fundal height measurement and gestational age discrepancy are observed. Despite potential improvement in the detection of ultrasound abnormality, prior trials to date on universal third-trimester ultrasound examination in low-risk pregnancies, compared with indicated ultrasound examination, have not demonstrated improvement in neonatal or maternal adverse outcomes. The primary objective was to determine if universal third-trimester ultrasound examination in low-risk pregnancies could attenuate composite neonatal adverse outcomes. The secondary objectives were to compare changes in composite maternal adverse outcomes and detection of abnormalities of fetal growth (fetal growth restriction or large for gestational age) or amniotic fluid (oligohydramnios or polyhydramnios). Our pre-post intervention study at 9 locations included low-risk pregnancies, those without indication for ultrasound examination in the third trimester. Compared with indicated ultrasound in the preimplementation period, in the postimplementation period, all patients were scheduled for ultrasound examination at 36.0-37.6 weeks. In both periods, clinicians intervened on the basis of abnormalities identified. Composite neonatal adverse outcomes included any of: Apgar score ≤5 at 5 minutes, cord pH <7.00, birth trauma (bone fracture or brachial plexus palsy), intubation for >24 hours, hypoxic-ischemic encephalopathy, seizure, sepsis (bacteremia proven with blood culture), meconium aspiration syndrome, intraventricular hemorrhage grade III or IV, periventricular leukomalacia, necrotizing enterocolitis, stillbirth after 36 weeks, or neonatal death within 28 days of birth. Composite maternal adverse outcomes included any of the following: chorioamnionitis, wound infection, estimated blood loss >1000 mL, blood transfusion, deep venous thrombus or pulmonary embolism, admission to intensive care unit, or death. Using Bayesian statistics, we calculated a sample size of 600 individuals in each arm to detect >75% probability of any reduction in primary outcome (80% power; 50% hypothesized risk reduction). During the preintervention phase, 747 individuals were identified during the initial ultrasound examination, and among them, 568 (76.0%) met the inclusion criteria at 36.0-37.6 weeks; during the postintervention period, the corresponding numbers were 770 and 661 (85.8%). The rate of identified abnormalities of fetal growth or amniotic fluid increased from between the pre-post intervention period (7.1% vs 22.2%; P<.0001; number needed to diagnose, 7; 95% confidence interval, 5-9). The primary outcome occurred in 15 of 568 (2.6%) individuals in the preintervention and 12 of 661 (1.8%) in the postintervention group (83% probability of risk reduction; posterior relative risk, 0.69 [95% credible interval, 0.34-1.42]). The composite maternal adverse outcomes occurred in 8.6% in the preintervention and 6.5% in the postintervention group (90% probability of risk; posterior relative risk, 0.74 [95% credible interval, 0.49-1.15]). The number needed to treat to reduce composite neonatal adverse outcomes was 121 (95% confidence interval, 40-200). In addition, the number to reduce composite maternal adverse outcomes was 46 (95% confidence interval, 19-74), whereas the number to prevent cesarean delivery was 18 (95% confidence interval, 9-31). Among low-risk pregnancies, compared with routine care with indicated ultrasound examination, implementation of a universal third-trimester ultrasound examination at 36.0-37.6 weeks attenuated composite neonatal and maternal adverse outcomes.

The role of pre- and postnatal investigations in suspected isolated hypospadias

IntroductionPrenatal investigations are usually performed to diagnose severe or associated forms of hypospadias. However, the value of this workup and the correlation with the postnatal diagnosis and follow-up have not been studied in the literature. The aims of the study were to describe postnatal outcomes. Material and methodsWe conducted a single-center retrospective study. We included fetuses with a prenatal suspicion of isolated hypospadias (no associated ultrasound abnormality). Postnatal findings were described including neonatal examination with confirmation of the diagnosis or not of hypospadias, the diagnosis of isolated or associated hypospadias, investigations and management. ResultsA total of 21 patients with a suspicion of isolated hypospadias on prenatal ultrasound and available postnatal follow-up were included. The diagnosis of hypospadias was confirmed at neonatal examination for 17/21 (81 %) children. All 17 confirmed cases underwent at least one urological surgical procedure. Postnatally, the diagnosis of hypospadias in 4/17(23.5 %) cases was found to be associated with the following diagnosis: Denys-Drash syndrome, deletion of chromosome9 and duplication of chromosome20 involved in genital development, significant duplication of the short arm of chromosome 16, mosaic karyotypic abnormality [45, X (64 %)/46, XY (36 %)]. The hormonal assessment revealed 3/17(17.6 %) abnormalities: one diagnosis of partial androgen insensitivity syndrome and two cases of gonadal dysgenesis with low AMH and inhibin B. ConclusionPrenatal diagnosis of isolated hypospadias may be associated with postnatal genetic abnormalities. In this context, a prenatal assessment by amniocentesis with chromosomal microarray analysis can be an option after discussion with the woman.

Point-of-care lung ultrasound predicts hyperferritinemia and hospitalization, but not elevated troponin in SARS-CoV-2 viral pneumonitis in children

SARS-CoV-2 often causes viral pneumonitis, hyperferritinemia, elevations in D-dimer, lactate dehydrogenase (LDH), transaminases, troponin, CRP, and other inflammatory markers. Lung ultrasound is increasingly used to diagnose and stratify viral pneumonitis severity. We retrospectively reviewed 427 visits in patients aged 14 days to 21 years who had had a point-of-care lung ultrasound in our pediatric emergency department from 30/November/2019 to 14/August/2021. Lung ultrasounds were categorized using a 6-point ordinal scale. Lung ultrasound abnormalities predicted increased hospitalization with a threshold effect. Increasingly abnormal laboratory values were associated with decreased discharge from the ED and increased admission to the ward and ICU. Among patients SARS-CoV-2 positive patients ferritin, LDH, and transaminases, but not CRP or troponin were significantly associated with abnormalities on lung ultrasound and also with threshold effects. This effect was not demonstrated in SARS-CoV-2 negative patients. D-Dimer, CRP, and troponin were sometimes elevated even when the lung ultrasound was normal.

Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non-invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis of 7-year experience.

The phenotype of SCA patients are diversities, make prenatal counseling and parental decision-making following the prenatal diagnosis of SCA more complicated and challenging. NIPT has higher sensitivity and specificity in screening trisomy 21 syndrome, but the effectiveness of NIPT in detecting SCA is still controversial. This study is a large-scale retrospective cohort of positive SCA screened from unselected singleton pregnancies by non-invasive prenatal testing (NIPT) from a single prenatal center of a tertiary hospital. Clinical information, indications, diagnostic results, ultrasound findings, pregnancy determinations, and follow-up were reviewed and analyzed. 596 cases of SCA positive were screened out of 122 453, giving a positive detection rate of 0.49%. 510 cases (85.6%) conducted with amniocentesis to detect fetal chromosome, of which 236 were confirmed as true positive of SCA with PPV of 46.3% (236/510). Of the 236 cases confirmed as true positive SCA, 114 cases (48.3%)chose to terminate the pregnancy (93.0%, 65.3%, 15.4% and 10.9% for 45,X, 47,XXY, 47,XXX and 47,XYY, respectively), 122 cases (51.7%) elected to continue the pregnancy. In conclusions, NIPT as a first-tier routine method for screening autosomal aneuploidies, also could play an important role in screening SCA. Low-risk pregnant women are the main indication for the detection of SCA as NIPT test provides to non-selective population. For 47,XXX and 47,XYY with mild phenotype, couples would like to continue the pregnancy. But for 45,X and 47,XXY, parents apt to terminate pregnancy no matter ultrasound abnormalities were found or not.

Clinical significance of incidental common bile duct dilatation in children: A 10-year single medical center experience

BackgroundWith the widespread use of abdominal ultrasonography (US), incidental detection of common bile duct (CBD) dilatation is common in pediatric populations. This study investigated the causes and clinical significance of CBD dilatation in children without biliary symptoms, jaundice, or causative lesions in US. MethodsWe retrospectively reviewed pediatric patients with CBD dilatation from July 2013 to June 2023. All cases were detected via abdominal US. We analyzed the patients’ clinical manifestations, laboratory data, diagnosis, underlying diseases, and clinical course. ResultsIn a total of 687 patients enrolled, 338 met inclusion criteria (90 in hepatobiliary, 248 in CBD dilatation group). Of 128 patients with incidental CBD dilatation who underwent regular US examinations, 91 (71.1%) experienced resolution during follow-up. The proportion of patients with intrahepatic duct dilatation was significantly higher in the non-resolution group (p = 0.038). General health examination group had significant smaller CBD diameter compared to the gastrointestinal and infection groups. Correlation analysis found starting point of resolution decline at 3.24 mm (all-inclusive) and 2.51 mm (infant group) CBD diameter. ConclusionsMost children with incidental CBD dilatation did not have abnormal hepatobiliary function or other sonographic abnormalities. They usually remained asymptomatic and experienced uneventful clinical courses.

Detection of subclinical enthesitis by ultrasonography in patients with psoriasis and controls.

Psoriasis is a widespread chronic inflammatory skin disease; enthesitis is inflammation of the tendon, ligament, and joint capsule insertion, prevalent in patients with psoriatic arthritis. The aim of study to evaluate the utility of the Madrid Sonography Enthesitis Index scoring system for accurate detection of subclinical enthesitis in patients with Psoriasis compared with healthy controls. Another objective was to assess increase in enthesis area and Psoriatic arthritis incidence, in a prospective 1-year follow-up. Patients aged ≥18 years who were diagnosed with Psoriasis, without musculoskeletal complaints, and who did not have any clinical sign and/or symptom of enthesitis and synovitis were included in the study. The patients and healthy controls were evaluated with ultrasonography. Ultrasonography evaluation consisted of the detection of gray-scale enthesitis and power Doppler signal in the enthesis areas. The Madrid Sonography Enthesitis Index scoring system was used to quantify the extent of the sonographic enthesis abnormalities. The mean MASEI score, structure, thickness, erosion, and calcification were significantly higher in the Psoriasis group than in the control group. The mean MASEI score, structure, erosion, and calcification measurements were significantly higher at the last examination when compared to the first examination. The triceps was the most commonly affected tendon in both groups. Ultrasonography is an important tool for diagnosis and follow-up of subclinical enthesitis in patients with psoriasis. Regardless of disease duration and severity, patients should be screened using ultrasonography at yearly intervals.

The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up

ObjectivesMuscle MRI and ultrasound provide complementary techniques for characterizing muscle changes and tracking disease progression in facioscapulohumeral muscular dystrophy (FSHD). In this cohort study, we provide longitudinal data that compares both imaging modalities head-to-head. MethodsFSHD patients were assessed at baseline and after five years. Standardized muscle MRI and ultrasound images of five leg muscles were assessed bilaterally. Fat replacement was quantified using MRI fat-fraction (FF) and ultrasound Heckmatt and echogenicity z-scores (EZ-score). Muscle edema was evaluated using T2-weighted turbo inversion recovery magnitude (TIRM) MRI. ResultsTwenty FSHD patients were included. Muscles with normal baseline imaging showed increases in ultrasound EZ-scores (≥1; in 17%) more often than MRI FF increases (≥10%; in 7%) over time. Muscles with only baseline ultrasound abnormalities often showed considerable FF increases (in 22%), and TIRM positivity at follow-up (44%). Muscles with increased FF at baseline showed stable (80%) or increasing FF (20%) over time. EZ-scores of those muscles either increased (23%), decreased (33%) or remained stable (44%). ConclusionsMuscle ultrasound may capture accelerated pathological muscle changes in FSHD in early disease, while muscle MRI appears better-suited to detecting and monitoring pathology in later stages. SignificanceOur results help establish each techniques’ optimal use as imaging biomarker.

Adverse pregnancy outcome in fetuses with early increased nuchal translucency: prospective cohort study.

An increased nuchal translucency (NT) thickness of ≥ 3.5 mm is a well-established marker for congenital anomalies and adverse pregnancy outcome between 11 and 14 weeks' gestation, but little is known about its performance as a screening tool before 11 weeks. We aimed to investigate, in a prospective setting, whether fetuses with increased NT before 11 weeks are at risk for adverse pregnancy outcome. This was a prospective cohort study including pregnant women with a viable fetus with NT ≥ 2.5 mm and a crown-rump length (CRL) < 45 mm. All included women were referred to our fetal medicine unit (FMU) and scheduled for a follow-up scan where the NT was remeasured after 1 week when the CRL was > 45 mm. Two groups were evaluated: cases with a normalized NT (< 3.5 mm) and cases with persistently increased NT (≥ 3.5 mm). The cases were monitored until 4 weeks after delivery. The main outcome was a composite adverse outcome of aneuploidy, other genetic disorders, structural anomalies and pregnancy loss. We performed subgroup analyses of NT thickness at inclusion and normalized or persistently increased NT at follow-up. The study included 109 cases, of which 39 (35.8%) had an adverse pregnancy outcome. Of these, 64.1% (25/39) were aneuploid, corresponding to 22.9% (25/109) of the total study population. In the subgroups of NT thickness at inclusion of 2.5-3.4 mm, 3.5-4.4 mm and ≥ 4.5 mm, an adverse outcome was reported in 22.0% (9/41), 40.0% (18/45) and 52.2% (12/23), respectively. In fetuses with a normalized NT and without ultrasound abnormalities at the follow-up scan, the incidence of adverse outcome was 8.5% (5/59), of which 5.1% (3/59) cases were aneuploid. Fetuses with an early increased NT thickness are at considerable risk of an adverse pregnancy outcome, even if the NT normalizes after 11 weeks. Not all congenital anomalies can be diagnosed with routine first-trimester screening, such as non-invasive prenatal testing and/or a first-trimester anomaly scan. Therefore, expectant parents should always be referred to a FMU for detailed ultrasonography. Invasive prenatal testing should be offered if an increased NT of ≥ 2.5 mm is observed before 11 weeks' gestation. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Optimizing prenatal diagnosis and referral of classic bladder exstrophy: Lessons from a single-institution experience

Classic bladder exstrophy (CBE) is a malformation of the genitourinary system that occurs due to failure of abdominal wall closure. Unlike other malformations of similar incidence, prenatal diagnosis of CBE relies on suggested, rather than formal, diagnostic criteria. This report describes prenatal diagnosis of CBE in the largest single-institutional cohort to date and delineates key sonographic findings and protocols for specialist referral. A single-institutional database was reviewed for CBE patients born since 2000. Data on screening ultrasound use, gestational age at ultrasound, and abnormal findings were extracted. Where possible, time of prenatal diagnosis (pre- or postnatal and gestational age), ultrasound findings and other imaging data, specialist referral, institution of birth and closure, and outcome of primary closure attempt were compared. Of 557 patients born with CBE between 2000 and 2022, 284 met inclusion criteria and complete data were available for 280 (229 born domestically and 51 born internationally) who were included for analysis. Abnormal sonography suggestive of CBE was present for 48% (n=134) of patients, for whom absent bladder was the most common abnormal finding (76% [102/134]). Of domestic patients, 46% (n=106) were diagnosed prenatally at a median gestational age of 22 weeks (inter-quartile range [IQR]: 20-24), and 14% (n=32) underwent confirmatory fetal magnetic resonance imaging. Of domestic patients with abnormal prenatal findings, 75% (n=80/106) consulted with maternal-fetal medicine and 58% (n=62/106) consulted with pediatric urology. On univariate analysis, prenatal diagnosis was positively associated with primary repair at Association for the Bladder Exstrophy Community-recognized centers of excellence (54% vs. 38%, p=0.02) and negatively associated with osteotomy at primary closure (41% vs 59%, p=0.003) but not success of primary closure (74% vs. 82%, p=0.07). Rates of prenatal diagnosis in this cohort were similar to previous reports of smaller cohorts. Diagnosis allows for comprehensive pre- and postnatal follow-up with a pediatric urologist, with implications on birth planning and decisions on termination of pregnancy. Because of the previously-reported association between exstrophy and invitro fertilization, these pregnancies should undergo detailed sonography. Any nonvisualization of the fetal bladder should prompt a detailed exam, and any finding characteristic of bladder exstrophy warrants referral to pediatric urology. Although CBE is a rare disorder, it is underdiagnosed during pregnancy. Sonographers and obstetricians should be aware of characteristic findings and best practices following diagnosis. Early referral to pediatric urology and maternal-fetal medicine is important for counseling and postnatal planning.

Fetal Long QT Syndrome - Challenges in Perinatal Management: A Review and Case Report. Induction of Labor and Vaginal Birth Under Continuous Magnesium Therapy.

Congenital LQTS is an often undetected inherited cardiac channel dysfunction and can be a reason for intrauterine fetal demise. It can present in utero as CTG and ultrasound abnormalities, i. e., bradycardia, ventricular tachycardia, or fetal hydrops. Diagnosis is made by CTG, echocardiography, or fMCG. Intrauterine therapy with a ß blocker and i. v. magnesium should be started. Our objective was to examine the current knowledge about diagnosis and treatment of LQTS and in particular to highlight the opportunity of vaginal birth under continuous intravenous magnesium therapy. Therefore, a thorough MEDLINE and Google Scholar search was conducted. Randomized controlled trials, meta-analyses, prospective and retrospective cohort trials, and case reports were considered. We showed the possibility of vaginal delivery under continuous magnesium therapy in a case of suspected fetal LQTS. A stepwise concept for diagnosis, monitoring, and peripartum management in low, intermediate, and high risk cases of fetal LQTS is presented. If risk is low or intermediate, a vaginal delivery under continuous monitoring is reasonable. Induction of labor at term should be evaluated.

Renal morphometric and doppler studies in different stages of canine chronic kidney disease &lt;b&gt;&lt;/b&gt;

Doppler ultrasound is a useful diagnostic tool to evaluate renal blood flow in canine chronic kidney disease (CKD). This study aimed to describe and compare renal blood flow in different stages of CKD dogs based on the ultrasonographic appearance of kidneys. The study included one hundred and three dogs with CKD confirmed clinically, hematologically, biochemically and ultrasonographically. Ten healthy dogs with no haematological and ultrasonographic abnormalities of kidneys were also included in the study as a control group. Based on SDMA levels, the dogs with CKD were divided into four groups viz., Stage I (n=17), Stage II ( n=15), Stage III ( n=25) and Stage IV ( n=46). The Renal volume was measured with two-dimensional ultrasonography. All the dogs were subjected to pulsed-wave Doppler to obtain hemodynamic parameters such as resistance index (RI) and pulsatility index (PI) which were significantly (P&lt;0.05) higher in CKD stage III and IV dogs than in control. However, no significant difference was reported in RI and PI values in dogs with CKD Stages I and II (P&gt;0.05). Hemodynamic parameters appear useful markers for understanding the pathological process and progression in dogs with CKD.

Relationship between shoulder and elbow range of motion and ultrasonographic structural abnormalities in the elbow of Taiwanese high school baseball players

BackgroundUltrasonographic structural abnormalities are regarded as one of the risk factors of elbow injuries. Elbow injuries are commonly associated with decreased shoulder/elbow range of motion (ROM). The purpose of this study is to determine the relationship between shoulder/elbow ROM and elbow ultrasonographic structural abnormalities in Taiwan high school baseball players.MethodsA total of 533 Taiwan high school baseball players were enrolled. Physical examinations including measurements on shoulder/elbow ROM and elbow sonographic examinations were performed and recorded by professional physicians. The analyses were conducted in three subgroups according to their defensive position because the training programs were different. All players pooled, pitchers-only, and fielders-only, due to several demographic differences among these subgroups. In all the subgroups, univariate analyses were conducted separately for participants with and those without elbow ultrasonographic structural abnormalities, and then multivariate analyses were conducted to identify factors significantly related. The odds ratios (ORs) were used to estimate the risk of elbow ultrasonographic structural abnormalities.ResultsDemographic data showed that pitchers had taller body height (P < 0.001) and greater elbow flexion/extension ROM (P < 0.001). When all players were pooled, significant risk factors included started playing baseball at an younger age (OR = 1.202; 95% CI = 1.064–1.357; P = 0.003), longer experience of official baseball (OR = 1.154; 95% CI = 1.038–1.283; P = 0.008), lower total shoulder rotation angle (OR = 1.007; 95% CI = 1.000–1.014; P = 0.050), and less total elbow arm angle (OR = 1.052; 95% CI = 1.017–1.088; P = 0.003) For pitchers, significant risk factors included longer experience of official baseball (OR = 1.342; 95% CI = 1.098–1.640; P = 0.004), lower total shoulder rotation angle (OR = 1.016; 95% CI = 1.004–1.027; P = 0.006), and lower total elbow arm angle (OR = 1.075; 95% CI = 1.024–1.129; P = 0.004) (Table 5). There were no significant risk factors for elbow structural abnormalities in fielders.ConclusionFor Taiwan high school pitchers, longer official baseball experience, decreased shoulder total rotational angle, and decreased elbow total flexion/extension angle, were related to ultrasonographic structural abnormalities in elbows.

Ultrasound imaging in spinal cord injury patients with shoulder pain

Objective To examine shoulder ultrasound imaging in both tetraplegic and paraplegic spinal cord injury (SCI) patients with shoulder pain. Methods All 28 individuals with SCI with shoulder pain were enrolled in this study. Fifty-six shoulders were evaluated by ultrasound (US) imaging. Results Fourteen tetraplegics and 14 paraplegics were enrolled (age 45.4 ± 13.8 years [mean ± SD]). Median time post-SCI was 8.6 years. Twenty-three individuals (82.1%) were independent in transfer and four individuals (14.3%) were partially independent in transfer. The prevalence of shoulder pain was 78.6% in manual wheelchair ambulators, 10.7% in gait aids users, 7.1% in wheelchair sitters, and 3.6% in no assistive device individuals. Abnormal US imaging was found in 24/28 (85.7%) individuals. Total shoulder US abnormalities were 38 units. Most common abnormal US imaging was supraspinatous tendinosis (42.1%), biceps tendon effusion (23.7%), positive dynamic supraspinatus impingement (21.1%), and subdeltoid bursitis (18.4%). Conclusions Shoulder ultrasonographic abnormalities were common in the patients with SCI with shoulder pain. The supraspinatus tendinosis is the most common abnormal US imaging in patients with SCI with shoulder pain.