Prenatal Ultrasound Examination Research Articles

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.

Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective Analysis

The 22q11.2 deletion syndrome (22q11.2 DS) is known as the most common microdeletion syndrome. Due to its variable clinical phenotype, prenatal diagnosis can be challenging. The aim of this retrospective study was to evaluate the clinical course and pregnancy outcome of cases with prenatally diagnosed 22q11.2 deletion syndrome (DS) as well as to evaluate the role of prenatal magnetic resonance imaging (MRI) and postmortem examination. In total, 21 cases who underwent prenatal ultrasound examination and pregnancy care at the Department of Obstetrics and Gynecology at the Medical University of Vienna between 2012 and 2022 were included. The majority of the cases were genetically diagnosed using fluorescent in situ hybridization (FISH). The median gestational age (GA) at genetic diagnosis was 23.0 weeks (IQR 21.4–24.8 weeks). CHDs were detected in all fetuses and the most common extracardiac manifestation was thymus hypo/aplasia followed by genitourinary anomalies. Prenatal magnetic resonance imaging (MRI) revealed additional diagnostic information in three of ten cases. Overall, 14 patients opted for drug-induced TOP, of which 9 cases had a feticide prior to the induction of labor. The majority of craniofacial malformations were only detected by autopsy. In conclusion, the majority of cases prenatally diagnosed with 22q11.2 DS had an absent or hypoplastic thymus noted antenatally in addition to the detected CHD, and almost half of the cases had another extracardiac malformation of predominantly genitourinary origin. Furthermore, prenatal MRIs confirmed previously detected malformations, but only provided additional diagnostic information in three out of ten cases, whereas postmortem examination diagnosed most of the craniofacial anomalies and should always be conducted, serving as an important quality indicator for prenatal imaging.

The ‘Ironclad friendship’ of China-Cambodia, lays the first step in the foundation of early diagnosis and treatment of asymptomatic congenital heart Defects- A multi-national screening and intervention project, 2017–2020

BackgroundCongenital heart disease (CHD) is the leading cause of mortality in childhood worldwide. However, a large number of children with CHD are not diagnosed promptly in low- and middle-income regions, due to limited healthcare resources and lack the ability of prenatal and postnatal ultrasound examinations. The research on asymptomatic CHD in the community is still blank, resulting in a large number of children with asymptomatic CHD can not be found and treated in time. Through the China-Cambodia collaborative health care initiative, the project team conducted research, screened children’s CHD through a sampling survey in China and Cambodia, collected relevant data, and retrospectively analyzed the data of all eligible patients.ObjectivesThe project aimed to evaluate the prevalence of asymptomatic CHD in a sample population of 3-18years old and effects on their growth status and treatment outcomes.MethodsWe examined the prevalence of ‘asymptomatic CHD’ among 3-18years old children and adolescents at the township/county levels in the two participating. A total of eight provinces in China and five provinces in Cambodia were analyzed from 2017 to 2020. During 1 year follow-up after treatment, the differences in heights and weights of the treated and control groups were evaluated.ResultsAmong the 3,068,075 participants screened from 2017 to 2020, 3967 patients with asymptomatic CHD requiring treatment were identified [0.130%, 95% confidence interval (CI) 0.126 -0.134%]. The prevalence rate of CHD ranged from 0.02 to 0.88%, and was negatively related to local per capita GDP (p = 0.028). The average height of 3310 treated CHD patients were 2.23% (95% CI: -2.51%~-1.9%) lower than that of the standard group and the average weight was − 6.41% (95% CI: -7.17%~-5.65%) lower, the developmental gap widening with advancing age. One year after treatment, the relative height difference remained comparable while that, in weight was reduced by 5.68% (95% CI: 4.27% ~7.09%).ConclusionsAsymptomatic CHD now is often overlooked and is an emerging public health challenge. Early detection and treatment are essential to lower the potential burden of heart diseases in children and adolescents.

Vascular ring: prenatal diagnosis and prognostic management based on sequential cross-sectional scanning by ultrasound

BackgroundIn terms of embryonic origin, vascular ring is a congenital anomaly in which the aortic arch and its branches completely or incompletely encircle and compress the trachea or esophagus. Early and accurate diagnosis of a vascular ring is the key to treatment. Prenatal diagnosis mainly relies on fetal echocardiography, but the rate of missed diagnosis and misdiagnosis is still very high, and the prognosis has not been evaluated. The aim of this study was to investigate the accuracy of prenatal diagnosis and to evaluate the prognosis semi-quantitatively according to the shape of the ring and the distance between the vessel and the trachea.MethodsFrom 2019 to 2021, 37,875 fetuses underwent prenatal ultrasound examination in our center. All fetal cardiac examinations were performed using the fetal echocardiography method proposed by the American Institute of Ultrasound in Medicine (AIUM) combined with dynamic sequential cross-sectional observation (SCS). For SCS, the standard abdominal section was taken as the initial section, and the probe was moved cephalically along the long axis of the body until the superior mediastinum had disappeared. If a vascular ring was found, the shape of the ring and the distance of the branch to the airway were observed. The distance relationship with the airway was divided into three grades: I-III; the closer the distance, the lower the grade. The vascular rings were monitored every 4 weeks before birth. All were monitored before surgery or 1 year after birth.ResultsA total of 418 cases of vascular rings were detected. There was no missed diagnoses or misdiagnoses by SCS. The vessels formed different shaped rings according to their origin and route. Grade I, “入” and “O” rings have a poor prognosis and are associated with the highest risk of respiratory symptoms.ConclusionsSCS can accurately diagnose vascular rings before delivery, evaluate the shape and size of the rings to conduct prenatal monitoring of children until birth, which plays a guiding role in airway compression after birth.

Prenatal Diagnosis of Pierre Robin Sequence and Its Prognosis: A Retrospective Cohort Study.

This study aimed to explore the efficiency of ultrasound (US) in prenatal diagnosis and prognosis of Pierre Robin sequence (PRS) of 18 cases. A total of 79,305 women admitted for prenatal US examinations were recruited from January 2017 to December 2020. Eighteen cases of PRS fetuses were selected form the cohort and 40 cases of isolated micrognathia were recruited randomly as control group. All the clinical and imaging results were retrospectively reviewed. General condition, US measurements, and prognosis of fetuses were compared between groups. Cleft palate, glossoptosis, and micrognathia were found in all 18 fetuses with PRS by prenatal US. Compared with the isolated micrognathia group, there were no significant differences in the PRS group in examination of maternal age, gestational weeks at assessment, and gender of fetuses, but significant lower measures in inferior facial angle, jaw index, and frontal nasal-mental angle (each p < 0.05). Twelve fetuses were defined to have other associated malformations. Ear malformations were the most common associated malformations with a prevalence of 44.4% (8/18). All of the18 cases were confirmed with PRS after delivery or autopsy. Two delivered infants were found bucking easily, one baby was spitting up frequently but growth showed normal. Prenatal detection of PRS with US examination is highly efficient. Even with the triad of malformations, isolated PRS had good outcomes following initial stabilization and management in the neonatal period. Prenatal detection of Pierre Robin syndrome with targeted US examination is efficient in discerning characteristics of this rare syndrome. Even with the triad of malformations, isolated PRS had good outcomes following initial stabilization and management in the neonatal period. · Prenatal diagnosis of fetal PRS is of great clinical importance.. · Micrognathia has been identified as the primary feature of PRS.. · Posterior displacement of the tongue may cause acute neonatal respiratory distress.. · Even with triad malformation, isolated PRS seemed to have good outcomes..

Prevalence of neural tube defects among pregnant women in Addis Ababa: a community-based study using prenatal ultrasound examination

PurposeThe primary aim of this study was to estimate the prevalence of NTDs at ultrasound examination in communities of Addis Ababa and secondarily to provide a description of the dysmorphology of the NTD cases.MethodsWe enrolled 958 pregnant women from 20 randomly selected health centers in Addis Ababa during the period from October 1, 2018, to April 30, 2019. Of these 958 women, 891 had an ultrasound examination after enrollment, with a special focus on NTDs. We estimated the prevalence of NTDs and compared it with previously reported hospital-based birth prevalence estimates from Addis Ababa.ResultsAmong 891 women, 13 had twin pregnancies. We identified 15 NTD cases among 904 fetuses, corresponding to an ultrasound-based prevalence of 166 per 10,000 (95% CI: 100–274). There were no NTD cases among the 26 twins. Eleven had spina bifida (122 per 10,000, 95% CI: 67–219). Among the 11 fetuses with spina bifida, three had a cervical and one had a thoracolumbar defect while the anatomical site for 7 was not registered. Seven of the 11 spina bifida defects had skin covering, while two of the cervical lesions were uncovered.ConclusionWe report a high prevalence of NTDs among pregnancies in communities of Addis Ababa based on screening by ultrasound. The prevalence was higher than in previous hospital-based studies in Addis, and the prevalence of spina bifida was particularly high.

Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies

Objective We assessed the frequency and type of associated congenital anomalies encountered with fetal tethered spinal cord (TSC) determined prenatally. Method A retrospective review was conducted based on the associated fetal abnormalities following diagnosis of low-lying fetal conus medullaris during the prenatal ultrasound. Results Of the 26 fetuses with low-lying conus medullaris, four were solitary TSC and 22 had TSC combined with associated congenital malformations, including four cases with spina bifida occulta, four cases with spina bifida aperta, one case with severe hydrocephalus, and 13 cases with multisystem congenital malformations. Among all the 13 cases with combined multisystem congenital malformations, four cases had vertebral defects, anal anomalies, cardiac defects, trachea-esophageal fistula, renal anomalies, and limb anomalies (VACTERL) syndrome, two cases had combined kidney development abnormalities, one case had cloacal exstrophy (OEIS syndrome), and six cases had chromosomal abnormalities (one case of chromosome 7q deletion, two cases of trisomy 13 syndrome, one case of trisomy 18 syndrome, one case of trisomy 9 syndrome, and one case of chromosome 4p deletion). Conclusions Low-lying conus medullaris found during prenatal ultrasound examination were often associated with neural tube malformations or multi-systemic complex developmental malformations. The frequency of chromosomal abnormalities was 23.1%.

The shape of the kidney pelvis in the fetus with hydronephrosis grade III as a predictor of surgical treatment in postnatal period

BACKGROUND: Fetal hydronephrosis is one of the most common malformations of the urinary system. The main goal of prenatal diagnostics is to identify a risk group with a dilatation of the renal collecting system due to mechanical obstruction of the pelvic-ureteral segment.&#x0D; AIM: The aim of the study is to definition of a prenatal risk group with a high probability of early surgical intervention in the postnatal period based on an assessment of the predictor properties of the pelvis shape in hydronephrosis grade III.&#x0D; MATERIALS AND METHODS: A prospective analysis of the results of prenatal ultrasound examination of 77 fetuses (82 renal units) with grade III hydronephrosis (SFU classification) was carried out. The anteroposterior diameter of the pelvis was measured in millimeters at the level of the kidney gate. With the ellipsoid shape of the pelvis, the compression ratio of the ellipse was calculated as the ratio of the small semi-axis of the ellipse to its large semi-axis. All parameters were recorded in the third trimester of pregnancy. The study included cases of hydronephrosis with parenchymal thickness not differing by more than two sigma deviations from the standard value. The first ultrasound examination in the postnatal period was performed during the first month of life and then at 3, 6 and 12 months.&#x0D; RESULTS: Prenatally, 57 kidneys had an elliptical pelvis and 25 funnel-shaped. The anteroposterior diameter of ellipsoid (16.5 [13; 20]) and funnel-shaped pelvis (15.0 [13; 17.8]) did not differ statistically significantly (p = 0.39). 36 (43.9%) patients were operated on, 29 of them were operated at the age of 13 months, due to the increase in APD from 17.56.0 to 27.98.2 (p = 0.001) and the transition of hydronephrosis to the IV degree by 1 month of life. The remaining 7 children had gradual progression of hydronephrosis and were operated at the age of 12 months and older. In 56.1%, resolution, regression or stabilization of hydronephrosis were noted during dynamic observation lasting 1 year. With a single-variant analysis, it was found that the configuration of the pelvis and the compression ratio of the ellipse statistically significantly correctly predicted the progression of hydronephrosis and the probability of surgery at 69.5% and 80.5%, respectively. At the same time, the compression ratio had a higher sensitivity and specificity.&#x0D; CONCLUSIONS: Fetal hydronephrosis with a funnel-shaped configuration of the pelvis, has a functional nature and regresses after birth during the first year of life. The antenatal ellipsoid configuration of the pelvis, approaching the circumference, is a statistically significant predictor of surgical intervention due to the progression of hydronephrosis due to external causes of obstruction.

Second-trimester growth velocities in twin and singleton pregnancies.

Previous small studies used individualized growth assessment (IGA) to characterize prenatal growth velocities of singletons and twins. We aimed to compare second-trimester growth velocities of individual anatomical parameters between monochorionic diamniotic (MCDA) twins, dichorionic diamniotic (DCDA) twins and singleton fetuses in a larger study. This was a study of a novel cohort of 222 MCDA twins and previously published cohorts of 40 DCDA twins and 118 singletons with serial ultrasound data. Fetal biometric measurements of biparietal diameter, head circumference, abdominal circumference and femur diaphysis length from prenatal ultrasound examinations were used to calculate second-trimester growth velocities using direct calculation or linear regression analysis. Linear fit was assessed based on the coefficient of determination (R2 ). Mean growth velocities and variances were compared among the three groups. The majority of cases underwent three second-trimester ultrasound examinations with fetal biometry available. All fetuses had linear growth, with R2 > 99% for all parameters. Only 1-2% of all MCDA and DCDA anatomical parameters had abnormal growth velocity scores outside the 95% reference range for singletons. There were no significant differences in mean growth velocity for any parameter between MCDA twins and singletons. Femur diaphysis length growth velocity was significantly lower in DCDA twins than in both MCDA twins and singletons. There were no other significant differences among the groups. Expanding on prior work using IGA, we found that second-trimester growth velocity of the four major anatomical parameters overall was similar between twins and singletons and between MCDA and DCDA twins, supporting the use of singleton-derived growth standards for IGA in twins. Twin growth potential appears to be similar to that of singletons in the second trimester, suggesting that subsequent growth divergence may be due to third-trimester physiological or pathological changes in twin pregnancies. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Mild early course of osteogenesis imperfecta type XIV - a case report

&amp;lt;p&amp;gt;&amp;lt;strong&amp;gt;Introduction.&amp;lt;/strong&amp;gt; Mutations in TMEM38B gene, which encodes the endoplasmatic reticulum membrane trimeric intracellular cation channel (TRIC) type B, cause osteogenesis imperfecta type XIV. So far there have been only four different pathogenic variants reported in TMEM38B. Clinical features of osteogenesis imperfecta type XIV described in scarce reports include osteopenia, femoral bowing, low trauma fractures, scoliosis, muscular hypotonia and cardiac pathology.&amp;amp;nbsp;&amp;lt;/p&amp;gt;&amp;lt;p&amp;gt;&amp;lt;strong&amp;gt;Case report.&amp;lt;/strong&amp;gt; A 2-month-old male infant was referred to a clinical geneticist office due to bone deformities. The shortening of the limbs was observed during the prenatal ultrasound examination in seventh month of pregnancy. Prenatal cytogenetic analysis was performed from a fetal blood sample and showed normal findings. Neither fetal fractures were observed prenatally, nor any occurred during vaginal labor. During the first clinical exam by the clinical geneticist, discrete rhizomelia and bluish sclerae were observed. Due to the suspicion of skeletal dysplasia, indication for genetic analysis was established. Next generation sequencing panel for skeletal dysplasia showed homozygous deletion of exons 1 and 2 in the TMEM38B gene, confirming osteogenesis imperfecta type XIV. At the follow-up visit performed at 12 months of age, no fractures were reported. Several skeletal deformities were observable: discrete frontal bossing, rhizomelic upper extremities, slightly bowed thighs and shins. The infant achieved normal psychomotor development. A radiographic examination showed bowing of long bones of the lower extremities, without significant osteopenia.&amp;amp;nbsp;&amp;lt;/p&amp;gt;&amp;lt;p&amp;gt;&amp;lt;strong&amp;gt;Conclusion.&amp;lt;/strong&amp;gt; Absence of early fractures is rare in osteogenesis imperfecta type XIV. Relatively mild clinical features of our patient therefore contribute to the understanding of the phenotype of osteogenesis imperfecta type XIV and its relation to the genotype.&amp;lt;/p&amp;gt;

Prenatal ultrasound evaluation of fetal cutaneous hemangioma and related complications

Objectives Congenital hemangiomas are rare benign vascular tumors but can lead to serious adverse pregnancy outcomes. Its prenatal diagnosis is a challenge. We explored the clinical applications of prenatal ultrasound for evaluating fetal cutaneous hemangioma and associated complications. Methods A retrospective observational study was conducted comprising a population of pregnant women with fetal cutaneous hemangioma, the latter diagnosed by prenatal ultrasound, between January 2016 and December 2020. The clinical characteristics, sonographic images, complications, and pregnancy outcomes were documented and analyzed. Results We identified 20 cases of fetal cutaneous hemangioma diagnosed by prenatal ultrasound and confirmed by postpartum examinations. Most hemangiomas were in the head and neck (55%), with either solid isoechoicity (25%) or solid mildly hyperechoic (25%), and well-circumscribed (80%) mass. Eight (40%) fetuses experienced complications, which often occurred in fetuses with large hemangiomas (67% with maximum diameter ≥5 cm; 100% with a volume ≥40 cm3). The most common complications were cardiac-related (88%), including elevated cardiothoracic area ratio, atrioventricular valve regurgitation, and fetal hydrops. A large hemangioma was usually associated with advanced gestational age and a fast hemangioma growth rate. In five (25%) cases, the pregnancy was terminated; these involved hemangioma of the head or neck. One newborn developed Kasabach–Merritt phenomenon, pulmonary hemorrhage and respiratory distress, and died 3 days after birth. Among the 14 (70%) fetuses that survived birth, all hemangiomas disappeared or regressed after treatments with propranolol, interventional surgery, or observed routinely. Conclusions Prenatal ultrasound examination can accurately diagnose fetal cutaneous hemangioma and related complications to facilitate appropriate management during the pregnancy. Rationale Prenatal diagnosis of cutaneous hemangiomas is a clinical challenge. Prenatal ultrasound examination could be a method to accurately diagnose and monitor these hemangiomas.

Society for Maternal-Fetal Medicine Special Statement: Telemedicine in obstetrics—quality and safety considerations

The frequency of telemedicine encounters has increased dramatically in recent years. This review summarizes the literature regarding the safety and quality of telemedicine for pregnancy-related services, including prenatal care, postpartum care, diabetes management, medication abortion, lactation support, hypertension management, genetic counseling, ultrasound examination, contraception, and mental health services. For many of these, telemedicine has several potential or proven benefits, including expanded patient access, improved patient satisfaction, decreased disparities in care delivery, and health outcomes at least comparable to traditional in-person encounters. Considering these benefits, it is suggested that payors should reimburse providers at least as much for telemedicine as for in-person services. Areas for future research are considered.

Патологія провізорних органів, ускладнення вагітності, пологів і стан малюків при вроджених вадах сечовидільної та нервової систем

Congenital malformations (CM) in fetuses and neonates belong to main causes of perinatal morbidity and mortality. Provision organs malformation and malfunction in such cohorts is less studied. The purpose - to analyze the course of pregnancy, the data of ultrasound imaging of provisional organs in the presence of CM of central nervous system (CNS) and/or of nephro-urinary system (NUS) in the fetus and newborn. Materials and methods. The results of prenatal and postnatal ultrasound, anamnestic and general clinical data of a sample of cases with prenatally diagnosed CM of CNS and/or NUS for the period 2017-2021 were analyzed. Results. There were 45 newborns with CNS malformations, and 54 newborns with CM of NUS. Malformations of NUS and/or CNS in the examined newborns were combined with anomalies of other systems in a third of cases - 29.6% and 31.1%, respectively. According to the results of prenatal ultrasound examinations, polyhydramnios (16.7%) was most often recorded in the pregnancies with fetal CM of NUS, and cases of fetal CM of CNS most commonly were registered placental hyperplasia (35.6%), fetal growth retardation (24.4%) and fetal distress (26.7%). Postnatally in both cohorts (with NUS malformations and with CNS malformations) a high rate of following complications were recorded: prematurity (16.7% and 15.6%, respectively), birth asphyxia (48% and 55.6%, respectively), and early neonatal death (11% and 6.6%). Сonclusions. Pregnant women with CM of CNS and/or NUS in the fetus belong to the group of high perinatal risk because of the high rate of perinatal complications. Information about the identified high perinatal risks in fetuses and newborns with CM of the CNS and/or NUS should be provided to parents and taken into account when planning management of pregnancy and labor.

Laparoscopy ıs a defınıtıve dıagnostıc method for auto-amputated ovary ın ınfants.

Antenatal auto-amputation of the ovary is an extremely rare event, and its diagnosis is difficult. We aimed to retrospectively review the cases with antenatal auto-amputation, where the diagnosis was made based on detection of free-floating cyst during surgery. Patients diagnosed with auto-amputated ovary during the surgery between 2012 and 2021 were included in the study. The data were reviewed retrospectively. Clinical, radiological, surgical, and histopathological findings were recorded. Eight patients underwent surgery for an abdominal cystic mass. The age range of patients who were operated was from 21days to 9months. None of the patients had symptoms, except one patient who had a large cyst and was vomiting. Prenatal ultrasound examination indicated an intra-abdominal cyst in all patients, but auto-amputated ovary diagnosis was not made. Differential postnatal diagnoses included an ovarian cyst, ovarian teratoma, tuba-ovarian torsion, mesenteric lymphatic malformation, and intestinal duplication cyst. Only one patient had an auto-amputated ovary suspicion in computed tomography. Laparoscopic exploration (n: 7) or laparotomy (n: 1) was performed. Histopathologic examination was necrosis and calcification (n: 6), necrosis (n: 1), and serous cystadenoma and necrosis (n: 1). We suggest that laparoscopy should be used for diagnosis and treatment of antenatal intra-abdominal cysts that persist postnatally because of diagnostic dilemmas. We recommend in patients diagnosed with auto-amputated ovary that the other ovary should be carefully monitored and followed up in terms of ovarian cyst, due to the possible risk of torsion.

Fetal magnetic resonance imaging in the diagnosis of spinal cord neural tube defects: A prospective study.

ObjectiveThis study aimed to evaluate the value of fetal magnetic resonance imaging (MRI) in the prenatal diagnosis of spinal neural tube defects.MethodsFrom August 2018 to January 2021, 56 fetuses with suspected spinal cord neural tube defects were treated by prenatal ultrasound in the Neurosurgery Department of the First Medical Center of the People's Liberation Army General Hospital. Fetal MRI was performed within 72 h after ultrasound diagnosis. Forty singleton fetuses were selected. Magnetic resonance examination was performed within 1 month after birth, and the diagnostic coincidence rates of prenatal ultrasound and fetal magnetic resonance examination in the prenatal diagnosis of spinal cord neural tube defects were compared and analyzed using postnatal magnetic resonance examination as the standard.ResultsThe coincidence rates of prenatal ultrasound and fetal MRI for the prenatal diagnosis of spina bifida were 71.4% (20/28) and 39.2% (11/28), respectively, and the difference was statistically significant. The coincidence rates of prenatal ultrasound and fetal MRI in the diagnosis of intraspinal lipoma were 52.6% (10/19) and 73.7% (14/19), respectively, and the difference was statistically significant.ConclusionFetal MRI has an advantage over prenatal ultrasound in detecting intraspinal lipoma. Prenatal ultrasound has an advantage over fetal MRI in detecting spina bifida.

Emergency surgery for neonatal double aortic arch complicated with severe tracheal stenosis under prenatal ultrasound guidance

Children often require surgery for compression of the vascular ring formed by a double aortic arch on the trachea or oesophagus. We report a case of a 3 kg infant with dyspnoea requiring endotracheal intubation immediately after birth. Foetal ultrasound suggested a double aortic arch and tracheal stenosis (Panels A and B; 31 weeks + 5 day of gestation, vascular ring, 1 mm inner diameter of the main trachea). We made a definite diagnosis (Panels C and D) and rapidly corrected the double aortic arch 3 days after birth. Endotracheal intubation was withdrawn 1 day after surgery, and the infant was discharged on day 9. Good growth was observed at the 11-month follow-up. This is the first case report and the youngest child to undergo correction of a double aortic arch. We concluded the following: (i) A double aortic arch can cause very severe tracheal stenosis, which requires surgery during the neonatal period. (ii) Prenatal foetal ultrasound monitoring of tracheal diameter is of guiding significance for the diagnosis of and surgery for tracheal stenosis. Attention should be paid to the tracheal measurement in foetuses with macrovascular malformations. (iii) An accurate prenatal ultrasound examination avoids delaying the treatment of critically ill infants.

An ultrasound standard plane detection model of fetal head based on multi-task learning and hybrid knowledge graph

Prenatal ultrasound examination is a powerful tool to prevent birth defects and assess fetal health. Obtaining ultrasound standard planes is a prerequisite for prenatal ultrasound diagnosis. However, ultrasound standard plane detection depends heavily on the sonographer’s sufficient clinical experience and solid knowledge of fetal anatomy. In this study, to lighten the workload of the sonographer and promote the accuracy, efficiency, and interpretability of ultrasound standard plane detection, we propose an ultrasound standard plane detection (USPD) model based on multi-task learning and a hybrid knowledge graph. We first design a multi-task learning strategy to learn the shared features of fetal ultrasound images through convolutional blocks. Then, we optimize the generalization performance by extending the shared features into the task-specific output streams. In addition, USPD integrates clinical prior knowledge graphs to reduce the error rate and missed detection rate. The USPD model can recognize the key anatomical structures of fetal heads and analyze the types of ultrasound planes. Furthermore, unlike most “end-to-end” automatic detection models, the USPD model not only outputs the prediction results but also provides consistent interpretation for professional sonographers, thereby increasing the interpretability of the model without the sonographer’s intervention. We conduct extensive experiments on a fetal head ultrasound image dataset to assess the proposed USPD model via comparison with competitive methods. Experimental results illustrate that the proposed USPD model outperforms the competitive methods with regard to accuracy and performance, and it can meet the clinical requirements in practical application.

Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome

BackgroundWolf-Hirschhorn syndrome (WHS) is a common genetic condition and prenatal diagnosis is difficult due to heterogeneous expression of this syndrome and rather non-specific ultrasound findings. Objective of this study was to examine the prenatal ultrasound findings in fetuses with Wolf-Hirschhorn syndrome (WHS).MethodsRetrospective assessment of 18 pregnancies that were seen at three tertiary referral centers (Universities of Bonn, Tuebingen and Nuernberg / Germany). Findings of prenatal ultrasound examinations, genetic results and outcome were compared. Additionally, findings of our study were compared to previous small case series from the literature and then compared to data on postnatal frequencies and abnormalities in affected patients.ResultsMedian gestational age at the time of examination was 23 + 1 weeks’ (range: 13 + 4 to 29 + 1 weeks’) with female-to-male ratio of > 2.5:1. Most frequent ultrasound findings were facial abnormalities, symmetric IUGR and microcephaly that presented in 94.4, 83.3 and 72.2% of cases, respectively. The combination of microcephaly and hypoplastic nasal bone was a particularly characteristic finding. Growth retardation presented in all fetuses > 20 weeks, but not below. Other frequent abnormalities included cardiac anomalies in 50 and single umbilical artery (SUA) in 44.4% of fetuses.ConclusionWHS should be considered in the presence of symmetric IUGR together with microcephaly, hypoplastic nasal bone and facial abnormalities on prenatal ultrasound. Genetic testing by chromosomal microarray analysis (CMA) is strongly recommended in this context.

Prediction of Fetal Biliary Atresia Based on Second and Third-Trimester Ultrasound Characteristics.

To explore the diagnostic performance of prenatal ultrasound in the prediction of biliary atresia (BA). We prospectively collected cases of suspected biliary abnormalities in the 2nd trimester of pregnancy and performed a series (at least 3) of prenatal ultrasound examinations in the 2nd and 3rd trimester. The presence of the gallbladder was examined each time, and its size and shape were assessed if the gallbladder was visible. The existence of other abnormalities was carefully evaluated. Neonatal ultrasound examination was conducted within 1 month after birth, and clinical data were followed-up for 6 months after birth. Among the 41 895 patients, 298 were suspected to have biliary abnormalities, while 82 patients were excluded due to loss to follow-up or induced labor caused by other abnormalities. A total of 216 patients were included in this study, and 15 were diagnosed with BA. We summarized the ultrasound findings of the gallbladders and defined a high-risk gallbladder for the prenatal diagnosis of BA. This was demonstrated to have the best diagnostic performance as a single parameter, with an area under the curve of 0.914 (95 %CI: 0.869-0.948). In addition, higher incidences of biliary cysts, right hepatic artery dilation, echogenic bowel, and ascites were observed in BA fetuses. Logistic regression analysis showed that the combination of 5 parameters had better diagnostic performance, with an area under the curve of 0.995 (95 %CI: 0.973-0.999). The fetal gallbladder was found to be a critical feature for the identification of BA. Concomitant abnormalities could be helpful to improve the accuracy of the diagnosis.

213 Case report: fetal malformations and 3P22.2P21.2 Deletion

Introduction/aims of the study: We aim to expand the knowledge on the clinical presentation of deletions on 3p22.2p21.2 and describe a case with a prenatal diagnosis of this deletion. Methods: We describe a case report of prenatal diagnosis of congenital malformations with a 3p22.2p21.2 deletion. Results: A 38-years-old 2G0P healthy woman had a previous history of a miscarriage at 22 weeks (twin pregnancy). No malformations were described on these fetuses. No history of viral infection, radiation, or toxic exposure was described on the pregnancy described here. Her partner was healthy and the couple was non-consanguineous. The couplés family history was unremarkable. Prenatal ultrasound examination at 18 weeks revealed female genitalia, bilateral ventriculomegaly, single umbilical artery, and ventricular septal defect (VSD). Fetal echocardiography at 21 weeks confirmed the isolated perimembranous VSD. The magnetic resonance imaging performed at the 24 weeks showed corpus callosum agenesis with an absence of the pellucid septum. The couple was referred for a prenatal diagnosis and medical genetics appointments. Amniocentesis was performed at 19 weeks. The initial cytogenetic analysis demonstrated a normal male karyotype (46,XY). Smith-Lemli-Opitz syndrome was excluded by sequencing of DHCR7. Array-CGH analysis revealed a 9.5Mb deletion on the region 3p22.2p21.2 containing 182 genes. This deletion was not previously described in the literature, public databases or is compatible with known contiguous genes syndrome. The couple was informed about the findings and opted to terminate the pregnancy at 24 weeks of gestation. Clinical examination of the fetus confirmed the ambiguous genitalia. Conclusions: To our knowledge, no previous report described the association of deletions on 3p22.2p21.2 with severe congenital multisystemic malformations. With this report, we are expanding the knowledge of the effect of the haploinsufficiency of this region. Further studies are needed to understand what genes are responsible for the features described in our case