Early Ultrasound Screening Research Articles

ATHEROSCLEROTIC CHANGES OF BRACHIOCEPHALIC ARTERIES IN DIFFERENT AGE GROUPS ACCORDING TO SONOGRAPHY

Background. One of the most frequent causes of death is considered to be stroke on the back of atherosclerosis of the extracranial carotid arteries. Detection of atherosclerosis at an early stage facilitates timely prevention and reduces the risk of developing of an acute cardiovascular event in the future. Purpose. To evaluate the clinical significance of ultrasound in the diagnosis of atherosclerotic changes in the brachiocephalic arteries in people of different age groups. Materials and methods. Echography of brachiocephalic arteries was performed among 155 people aged 45 to 89 years, who were randomized into 3 age groups. The middle–aged group included 56 people; the elderly group – 54 people; the senile group - 45 people. The processing of the results of the study was carried out in the programs Statistica 10 (StatSoft, USA). Results. According to the data of sonography, atherosclerotic plaques were detected in 62.5% of the middle–aged group, 83.3% of the elderly group and 88.9% of senile age. Heterogeneous hypoechoic and calcified plaques are found only among people who are over 60 years old. Moderate stenosis was observed at the bifurcation of the common carotid artery in all age groups. Pronounced stenosis and critical vascular stenosis in the proximal part of the internal carotid artery are observed in senile age. The index of the maximum systolic velocity among people with atherosclerosis decreases with age. With increasing age, the level of vascular resistance increases. Conclusion. Considering significant changes in the indicators of atherosclerotic manifestations already in middle age, in order to reduce the increase in population mortality from cardiovascular diseases, the healthcare system should introduce early ultrasound screening of brachiocephalic arteries for patients from 18 years of age.

Fetal Renal Duplicated Collecting System at 14-16 Weeks of Gestation.

(1) Background: To examine the incidence of the prenatal diagnosis of the renal double-collecting system (rDCS) and describe its clinical outcome and associated genetic abnormalities. (2) Methods: This retrospective study included women who attended the obstetric clinic for early fetal anatomic sonography with findings of a renal DCS. Diagnosis was conducted by an expert sonographer using defined criteria. (3) Results: In total, 29,268 women underwent early ultrasound anatomical screening at 14-16 weeks, and 383 cases of rDCS were diagnosed (prevalence: 1:76). Associated abnormalities were diagnosed in eleven pregnancies; four had chromosomal aberrations. No chromosomal abnormalities were reported in isolated cases. Ectopic uretrocele and dysplastic kidney were diagnosed in 6 (1.5%) and 5 (1.3%) fetuses, respectively. One girl was diagnosed with vesicoureteral reflux and recurrent UTIs, and two boys were diagnosed with undescended testis. The recurrence rate of rDCS was 8% in subsequent pregnancies. (4) Conclusions: In light of its benign nature, we speculate that isolated rDCS may be considered a benign anatomic variant, but a repeat examination in the third trimester is recommended to assess hydronephrosis.

Analysis of Risk Factors for Ischemic Cerebrovascular Events by Carotid Artery Ultrasound

<i>Objective</i>: Analysis of risk factors for ischemic cerebrovascular events using carotid artery ultrasound. <i>Method</i>: A total of 3500 patients who underwent carotid ultrasound examination at the encephalopathy department of our hospital from March 2022 to March 2023 were selected as the study subjects. 1731 males and 1846 females; the age ranged from 20 to 95 years, with an average of 61.48 ± 12.55 years. All patients were divided into age groups under 40 years of age, 41-60 years of age, and over 60 years of age. According to carotid ultrasound results, the study subjects were divided into normal carotid ultrasound, stenosis rate<50%, and stenosis rate ≥ 50%. To observe the incidence of carotid stenosis, compare the differences in the degree of carotid stenosis among patients of different ages and diseases, and use logistic regression analysis to analyze the influencing factors of carotid artery stenosis and predict the risk of ischemic cerebrovascular events. <i>Result</i>: Of the 3500 patients, 2609 had carotid stenosis, with a detection rate of 74.54%. Among them, the carotid stenosis rate was less than 50% in 2472 cases, and the stenosis rate was ≥ 50% in 137 cases; the positive rate was 74.54%. Multivariate logistic regression analysis showed that age, diabetes, hypertension, dyslipidemia, smoking history and cerebral infarction were independent risk factors for carotid artery stenosis (<I>P</I><0.05). <i>Conclusion</i>: Early carotid ultrasound screening and regular reexamination in high-risk stroke populations are necessary. Constructing a logistic regression model based on high-risk factors can predict the risk of cerebrovascular events as early as possible, providing a reliable basis for timely formulation of prevention and treatment measures in clinical practice. There are many factors influencing cerebrovascular events. Regular monitoring of blood pressure, blood sugar, and blood lipids, and determination of arterial stenosis by carotid ultrasound to predict cerebrovascular events are of great significance for the prevention and treatment of stroke high-risk populations. At the same time, attention should be paid to young people, and correctable risk factors should be identified in a timely manner for early intervention to minimize the risk of stroke in asymptomatic populations.

The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes.

To evaluate the clinical potential of a higher resolution noninvasive prenatal screening (NIPS-Plus) test for detection of microdeletion/microduplication syndromes (MMS) in addition to common aneuploidies. In a multicenter prospective study, 37,002 pregnant women with unremarkable first-trimester ultrasound scans had a NIPS-Plus test. Ultrasound screen positive women were not included in this study. Of 36,970 ultrasound negative women there were 291 NIPS-Plus screen positive results indicating 237 aneuploidies and 54 MMS. Following amniocentesis, 171 (72%) were confirmed as genuine, comprising 3 T13s, 10 T18s, 61 T21s, 70 SCAs and 27 MMS. The PPV for MMS with unremarkable ultrasound findings was 50%. Routine clinical examination of children born from NIPS-Plus negative pregnancies revealed no obvious signs of chromosome disease syndromes at one year of age. NIPS-Plus has the potential for clinical utility not only for routine aneuploid screening but also for MMS that do not show overt signs during early pregnancy ultrasound screening. We suggest that ultrasound with NIPS-Plus in combination with appropriate counselling could be considered as a comprehensive first-tier prenatal screening approach for all pregnant women.

Intelligent auxiliary screening system for developmental dysplasia of the hip of infants

Developmental dysplasia of the hip (DDH) is one of the common congenital joint diseases. In order to find the disease as early as possible and thus improve the cure rate, the Graf method is often used in the clinical diagnose of DDH by early ultrasound screening of hip joints of infants. The method highly depends on the selection of standard planes and identification of key anatomical structures, which requires the high level knowledge and experience of physicians. This study proposes an intelligent infant DDH auxiliary screening system. It is designed to realize the automatic identification of standard planes and measure two indicators, i.e., α angle and β angle. A few-shot one-class classifier (FOC) is used as the automatic recognition standard plane module which can recognize the standard planes from hip joint ultrasound videos, learn the features of standard planes with self-supervised training, and predict the image standardized score. A fast instance network (FIN) is served as the automatic fast measurement module which measures two angles on the standard plane in real-time and visualizes the results through the one-stage architecture and multi-task learning mode. The performance of our system is verified with two kinds of experiments: automatic identification of the standard plane and automatic measurement of development indicators. Compared with other one-class classifiers, such as one-class support vector machine, deep support vector data description, and Ganomaly, the proposed method obtains better prediction performance with the area under the receiver operating characteristic curve 76.43%. Compared with other common neural networks, such as full convolutional network, Unet and deeplab V3, the FOC method obtains better prediction performance with lower computation complexity, i.e., the average errors in α and β angles are 2.48° and 4.38° and the inference speed is 33.88 frames/s. The experimental results show that the system can reduce the dependence on amount of training data, improve the homogeneity level of clinical screening for DDH, control the quality of measurement, and improve the efficiency of clinical screening.

Early neonatal universal ultrasound screening for developmental dysplasia of the hip: a single institution observational study.

We evaluated the effect of early universal ultrasound (US) screening program for developmental dysplasia of the hip (DDH). A total of 21,676 newborns between 2006 and 2015 were included in the study. All hips were examined by US within the first week of life. The incidence of sonographic hip-types according to the Graf method was analyzed, and then followed prospectively. Risk factors for DDH and treatment measures were also recorded, together with the number of first surgical procedures before the age of three years. Overall, 92.5% of hips were mature (Graf types Ia, Ib) at first examination, 7.2% were mature (Graf type IIa) and 0.3% were pathological (Graf types IIc to IV). A total of 146 pathological hips were detected in 118 of newborns (0.6%). Only 0.26% of screened population was treated with an orthosis. The rate of first surgical procedures and the rate of late detected DDH were 0.23 and 0.09 per 1000 live births, respectively. Regarding risk factors, positive family history, female gender, breech presentation, and high birth weight were significantly more common in newborns with pathological hips. Early neonatal universal US screening using Graf method is recommended to timely detect DDH and to provide the optimal conservative approach of management. It seems to be effective in reducing the overall treatment rate, together with the rate of surgical procedures and late detected cases.

Sonographic detection of fetal abnormalities before 11 weeks of gestation.

Sonographic detection of fetal abnormalities before 11 weeks of gestation.

Early detection of developmental dysplasia of hip by ultrasound.

To assess the effectiveness of early universal ultrasound (US) screening of developmental dysplasia of the hip (DDH). A prospective study of universal hip screening of all mature neonates was conducted from 2012 to 2013, at the Department of Obstetrics and Gynaecology, University of Szeged; 1636 newborns (3272 hips) had clinical examinations and hip ultrasound by the Graf method within the1st 3 days of life. Prevalence of DDH, risk factors, sensitivity and specificity of clinical examinations were evaluated. At the 1st US, 70 of the examined 3272 hips (2.14%) were found to be positive. According to Graf categories, the following distribution was observed: type II C, 21 hips (30.0%); D, 24 hips (34.28%); III, 24 hips (34.28%); IV, 1 hip (1.44%). Regarding the risk factors, female gender, breech presentation and positive family history proved to be significant. Interestingly, 28 (50.90%) of the 55 newborns with DDH had neither positive physical signs nor any risk factors, except being female. The physical examination was calculated for sensitivity (20.0%) and specificity (98.34%). In our 1-year period study, 50.9% of the newborns with DDH had neither any positive physical signs nor any risk factors, except being a female. In contrast, early universal US screening of the hip facilitated to diagnose all cases with hip dysplasia. Hip sonography is an effective mode of prevention in orthopaedics, however further studies are needed to compare the rates of operative procedures in selective versus universal screening models.

Role of serial ultrasound screening of venous thrombosis in oncologic children with central lines

ObjectivePediatric oncology patients are more likely to develop venous thromboembolic events related to central venous catheter (CVC). Study aim was to determine the incidence of catheter related thrombosis (CRT) in a cohort of pediatric oncology patients using vascular ultrasound (US). MethodsConsecutive children of a single cancer referral center, requiring medium to long term CVC implantation, were screened for CRT, using serial ultrasound exams. Measurements and main resultsUS examinations were taken 15, 30 and 90 days after CVC implantation. A total of 113 catheters were studied in 103 patients (median age 10.5 years old). Ultrasound screening was completed in 80.5% patients. Apart from three subjects, US investigations were well tolerated. Patients were followed for a median of 87 days. No symptomatic CRT was recorded throughout. Three cases of asymptomatic thrombosis were identified with early US screening; incidence of CRT events for 1000 catheter-days was 0.11. The presence of previous catheter-related infection and an history of one or more previous CVC placement were identified as risk factors. ConclusionsIn our pediatric patients the incidence of CRT is low. Ultrasound monitoring is well tolerated and allows detecting asymptomatic CRT. Patients with previous CVC infection or insertion seem to have a higher risk of CRT (p =0.003 and p = 0.043 respectively).

Early fetal ultrasound screening for major congenital heart defects without Doppler

ObjectiveCongenital heart defects are the most common major structural fetal abnormalities. Color flow mapping has played a dominant role in the detection of abnormalities during the first trimester, regardless of the International Society of Ultrasound in Obstetrics and Gynecology warning on the use of Doppler during early pregnancy. The aim of our study was to investigate the use of transvaginal two-dimensional sonography without Doppler for assessing the four-chamber view and the outflow tract view of fetuses at 11–13 weeks of gestation for cardiac screening of major congenital heart defects. Study DesignThis was a prospective observational study conducted in the Fetal Medicine Unit of Cabueñes University Hospital, between May 2014 and August 2015. Only low risk-pregnancies were studied. All ultrasonographic examinations were performed by two experienced sonographers in maternal-fetal medicine. The combination of high-frequency transvaginal (nine MHz) and transabdominal (six MHz) ultrasonography transducers were used. An early cardiac screening was performed in 97% of cases. Statistical analysis was carried out using successive multivariate logistic regression models in order to investigate the effect of crown-rump length and body mass index on the probability of visualizing the four-chamber view and/or the outflow tract view. Results663 low-risk pregnant women were included. Regarding the transvaginal approach, neither the crown-rump length nor the body mass index had a statistically significant relationship on the probability of visualization of the four-chamber view and outflow tract view. For the transabdominal approach, the crown-rump length and the body mass index presented a statistically significant effect on the visualization of the four-chamber view and the outflow tract view. Using the transvaginal approach: the success rate of performing a four-chamber view was 89.4% and 82.4% for the outflow tract view. Using the transabdominal approach: the success rate of performing a four-chamber view was 77.8% and 61.5% for the outflow tract view. Four major congenital heart defects were diagnosed, and the prenatal ultrasonagraphic diagnosis was confirmed for all cases. ConclusionsRoutine first-trimester ultrasonagraphy without Doppler, when performed by experienced sonographers, can effectively identify major congenital heart defects. Additional multicenter well designed studies should clarify the feasibility of this approach.

Uric acid: a potent molecular contributor to pluripotent stem cell cardiac differentiation via mesoderm specification

Congenital heart disease (CHD) is the most common cause of congenital anomaly and a leading cause of morbidity and mortality worldwide. Generation of cardiomyoctyes derived from pluripotent stem cells (PSCs) has opened new avenues for investigation of human cardiac development. Here we report that uric acid (UA), a physiologically abundant compound during embryonic development, can consistently and robustly enhance cardiac differentiation of human PSCs including hESCs and hiPSCs, in replacement of ascorbic acid (AA). We optimized treatment conditions and demonstrate that differentiation day 0–2, a period for specification of mesoderm cells, was a critical time for UA effects. This was further confirmed by UA-induced upregulation of mesodermal markers. Furthermore, we show that the developing mesoderm may be by directly promoted by SNAI pathway-mediated epithelial–mesenchymal transition (EMT) at 0–24 h and a lengthened G0/G1 phase by increasing the ubiquitination degradation in 24–48 h. These findings demonstrate that UA plays a critical role in mesoderm differentiation, and its level might be a useful indicator for CHD in early fetal ultrasound screening.

Henomenology of Pregnancy and the Ethics of Abortion

In this article I investigate the ways in which phenomenology could guide our views on the rights and/or wrongs of abortion. To my knowledge, very few phenomenologists have directed their attention to this issue, although quite a few have strived to better understand and articulate the strongly related themes of pregnancy and birth, most often in the context of feminist philosophy. After introducing the ethical and political contemporary debate concerning abortion, I introduce phenomenology in the context of medicine, and the way phenomenologists have understood the human body as lived and experienced by its owner. I turn then to the issue of pregnancy and discuss how the embryo or foetus could appear for us, particularly from the perspective of the pregnant woman, and what such showing up would mean from an ethical perspective. The way medical technology has changed the experience of pregnancy –for the pregnant woman, as well as for the father and/or other close ones– is discussed, particularly the implementation of early obstetric ultra-sound screening and blood test (NIPT) for Down’s syndrome and other medical defects. I conclude the article by suggesting that phenomenology can help us to negotiate a higher time-limit for legal abortion and, also, provide ways to determine which embryo-foetus defects to look for, and in which cases these should be looked upon as good reasons for performing an abortion.

Early Ultrasound Screening for Fetal Malformations in the Second Pregnancy after Combined Modality Treatment for Hodgkin’s Disease: A Case Report

Early Ultrasound Screening for Fetal Malformations in the Second Pregnancy after Combined Modality Treatment for Hodgkin’s Disease: A Case Report

Diagnosing developmental dysplasia of the hip using the Graf ultrasound method: risk and protective factor analysis in 11,820 universally screened newborns.

The significance and the informative value of risk and protective factor combinations, e.g., for selective ultrasound surveys, are limited. Early universal ultrasound screening using the Graf method is advised to timely detect hip immaturity and pathologies and to provide the optimal approach for mature or immature but appropriate for age and pathologic hips. What is Known: • Ultrasound screening is essential for diagnosis and treatment of DDH in time while the weighting and correlation of protective factors and perinatal risk and their role for the ultrasound screening protocol still give rise to debate. What is New: • The effects of single risk and protective factors for DDH do not cumulate or counteract, resulting in a limited value of a selective screening protocol based on risk and protective factors. • A universal screening protocol using the Graf ultrasound method is recommended.

Phenomenology of pregnancy and the ethics of abortion

In this article I investigate the ways in which phenomenology could guide our views on the rights and/or wrongs of abortion. To my knowledge very few phenomenologists have directed their attention toward this issue, although quite a few have strived to better understand and articulate the strongly related themes of pregnancy and birth, most often in the context of feminist philosophy. After introducing the ethical and political contemporary debate concerning abortion, I introduce phenomenology in the context of medicine and the way phenomenologists have understood the human body to be lived and experienced by its owner. I then turn to the issue of pregnancy and discuss how the embryo or foetus could appear for us, particularly from the perspective of the pregnant woman, and what such showing up may mean from an ethical perspective. The way medical technology has changed the experience of pregnancy—for the pregnant woman as well as for the father and/or other close ones—is discussed, particularly the implementation of early obstetric ultra-sound screening and blood tests (NIPT) for Down’s syndrome and other medical defects. I conclude the article by suggesting that phenomenology can help us to negotiate an upper time limit for legal abortion and, also, provide ways to determine what embryo–foetus defects to look for and in which cases these should be looked upon as good reasons for performing an abortion.

Early dynamic ultrasound for neonatal hip instability: implications for rural Australia

BackgroundNeonatal instability of the hip (NIH), where the femoral head can move away from the acetabulum, in the first weeks of life, is an important risk factor for developmental dysplasia of the hip (DDH). In rural areas in Australia, there is a recent trend to increased late diagnosis of DDH. Clinical screening of infant hips, a common practice in Australia, is experience dependent. Best practice early screening techniques are still debated with different techniques and timing used internationally. This systematic review examines early dynamic ultrasound (eDUS) screening for hip instability in the first 6 weeks after birth, and the early interventions informed by these findings and considers the findings for the context of rural Australia.MethodsThe Cochrane Library, Medline, CINAHL and PEDro were searched for original research or systematic reviews, and clinical studies 1998 to 2015 involving dynamic ultrasound. Critical Appraisal Skills Programme tools were used to appraise the studies.ResultNineteen studies were included. Early Dynamic Ultrasound (DUS) is consistently described as a reliable assessment of NIH. Early DUS is recommended for risk factors including geographical areas of high prevalence. Approaches to early intervention of hips with excessive movement are somewhat discipline-related and include: primary prevention (advice), secondary prevention (abduction supports), and conservative management (removable splints).ConclusionsIn the context of increased prevalence of DDH in rural Australia, contemporary evidence suggests that introduction of early DUS could provide rural infants with more effective screening than clinical examination alone. Targeted early advice about posturing and simple removable supports to abduct infant hips could prevent some cases of DDH in rural Australia.

Diverse outcome following early prenatal diagnosis of pulmonary stenosis.

To assess the natural history and outcome of fetal pulmonary stenosis (PS), particularly that detected at 14-17 weeks' gestation. In this retrospective study we searched an electronic database of women from the general Israeli population attending a private ultrasound institute (Al-Kol ultrasound institute in Haifa) for routine complete early fetal ultrasound, including all fetal systems and a fetal echocardiogram, between 2004 and 2015. Ninety-seven percent of the women were at low risk of fetal malformations, and 3% had risk factors such as maternal Type-1 diabetes mellitus, exposure during pregnancy to teratogenic drugs, or anomalies in previous pregnancies or in other family members. At presentation at 14-17 weeks of gestation, color and pulsed Doppler imaging were performed across the four cardiac valves. We identified cases in which abnormal flow was detected, leading to suspicion of PS; in these cases, a follow-up examination was carried out at 17-19 weeks and then monthly until delivery or resolution of the finding, and postnatal echocardiography was performed at birth, 4-6 weeks thereafter, and yearly afterwards. Outcome data for suspicious cases, including postnatal diagnosis and general or specific symptoms, were collected by contacting the parents via email or telephone. Among 24 185 early prenatal transvaginal ultrasound screening examinations, 23 cases of suspected PS were identified. They were classified into three groups, according to their ultrasound findings. In Group A (n = 8), the ultrasound screen was normal except for high flow velocity across the pulmonary valve. In six cases, this finding had resolved by 20-21 weeks of gestation and all were found to be normal at postnatal follow-up, one case underwent termination of pregnancy at 19 weeks and PS was confirmed at autopsy and one case was lost to follow-up. In Group B (n = 12), there was aliasing across the pulmonary valve. Two of these cases were normal postnatally and eight had mild-to-moderate PS; the remaining two cases developed hypoplastic right ventricle and pulmonary atresia at 19-20 weeks and the pregnancies were terminated. In Group C (n = 3) PS was associated with other anomalies; all three pregnancies were terminated. There were an additional six cases (Group D) not identified in early gestation, in which PS was late-onset. One had tricuspid regurgitation at the early screen, but was subsequently diagnosed with Ebstein's anomaly and pulmonary atresia, at 22 weeks, and was terminated. The other cases had completely normal early ultrasound screening examinations: one case had Ebstein's anomaly and PS was diagnosed at birth; four had isolated mild PS, of which one was diagnosed at 22 weeks' gestation and the other three were diagnosed postnatally, before 3 months of age. The sensitivity for detection of the ascertained cases of PS was 64% (11/17) and the specificity was > 99%. There is a diverse spectrum of presentation of fetal PS in the early mid-trimester. A possible explanation for this could be different pathophysiological pathways. Further study is needed to explain the different prenatal sonographic presentations in an unselected population. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

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Abstract Femoral atherosclerosis, a major cause of peripheral artery disease, has been associated with higher cardiovascular risk in lower extremity peripheral arterial disease patients. The purpose of our study was to assess the effects of the heritable components of atherosclerotic plaque formation in the femoral artery. 161 Hungarian and Italian twin pairs (n = 322, 75 Hungarian and 86 Italian pairs from Padua, Perugia and Terni; 83 monozygotic /MZ/, 78 dizygotic /DZ/; mean age 50 ± 13 years) recruited from the Hungarian and Italian Twin Registries underwent B-mode sonography of bilateral common and superficial femoral arteries (CFA, SFA). Concordance rates between members of the MZ and DZ pairs were calculated, and compared by Chi-square test. Rough heritability was analysed by Falconer formula. Plaques were identified in 24% and 6% of patients in CFA and SFA, respectively. Significantly higher concordance rate was found in MZ twins compared to DZ pairs regarding the presence of plaques in CFA (rMZ = 0.869 vs. rDZ = 0.696) and SFA (rMZ = 0.622 vs. rDZ = 0.403) on left or right side, which indicated a 34% and 44% rough heritability, respectively. Femoral atherosclerotic plaque formation in CFA and SFA is moderately genetically determined. Further studies should elucidate whether offsprings of families at high risk for femoral atherosclerosis may benefit from early ultrasound screening.

Ultrasound Subclinical Markers in Assessing Vascular Changes in Cognitive Decline and Dementia

Aging is often associated with some cognitive impairment. Greater population life expectancy is one explanation for increased incidence of cognitive impairment cases. Large numbers of people with cognitive impairment and dementia is becoming one of the most important medical and social problems worldwide. Therefore, prevention of cognitive impairment is an imperative. Dementia includes a heterogeneous group of disorders, the most common being Alzheimer's disease and vascular dementia. Most cardiovascular risk factors, such as hypertension, diabetes mellitus, hypercholesterolemia, atrial fibrillation, and smoking, are not exclusively risk factors for vascular dementia, but also for Alzheimer's disease. Early changes in the blood vessel wall can be detected by early ultrasound screening methods which allow us to detect changes before the disease becomes clinically evident. Intracranial hemodynamics can be assessed by transcranial Doppler sonography (TCD), functional TCD with various functional tests, and TCD detection of cerebral emboli. Extracranial circulation (carotid and vertebral arteries) can be assessed by means of color Doppler flow imaging. Novel ultrasound technology enables non-invasive, portable, bedside detection of early vascular changes such as arterial stiffness, measurement of the intima-media thickness, pulse-wave velocity, flow-mediated dilation, or endothelial dysfunction in order to obtain information necessary to determine more closely the relation between vascular status and disease development, so that the evolution of cardiovascular disease can be prevented or at least postponed. Early disease detection enables in-time management, and studies have shown that careful control of vascular risk factors can postpone or even reverse disease progression.

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ear anomalies and at least one major characteristic anomaly, was 3.8 per 100,000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder.