Sirenomelia: An anatomical assessment and genetic sex determination of two cases.

The etiology of sirenomelia is currently unknown. Data are limited in comparing external and internal abnormalities using modern imaging technologies and molecular genetic analysis. The purpose of the current study was designed to compare external and internal anatomical defects in two cases of sirenomelia and Potter's sequence. Considered rare, Potter's sequence is a fetal disorder with characteristic features of bilateral renal agenesis, obstructive uropathy, atypical facial appearance, and limb malformations. The internal and external malformations of two term fetuses with sirenomelia and Potter's sequence were compared using assessment of external features, radiography and MRI on internal structures, and molecular genetic studies on sex determination. Data reveal that both fetuses were male and manifested with an overlapping but distinct spectrum of abnormalities. Principal differences were noted in the development of the ears, brain, urogenital system, lower limbs, pelvis, and vertebral column. Defects of the axial mesoderm are likely to underlie the abnormalities seen in both fetuses. The first one, which had only caudal defects, was found to have a spectrum of abnormalities most similar to those associated with more severe forms of the small pelvic outlet syndrome, although the structure and orientation of the sacrum and iliae were different from previously reported cases. The other had both caudal and cranial defects, and was most similar to those described in the axial mesodermal dysplasia syndrome. Defects associated with sirenomelia can be evaluated with standard gross anatomy examination, radiology, MRI, and modified PCR techniques to determine anatomical abnormalities and the sex of preserved specimens, respectively. Evidence indicated that sirenomelia could be developed via various etiologies.

Prenatal diagnosis of fetal multiple hemivertebrae: the importance of 3D ultrasound assessment.

We herein present a case of fetal multiple hemivertebrae detected at antenatal sonography. The use of the 3 D technology supported by a new contrast enhancement rendering algorithm (Crystal Vue) has allowed the accurate prenatal classification of the defect, confirmed at follow up, that would have been difficult to define by 2 D only.

Comparative effectiveness of imaging modalities for preoperative assessment of anorectal malformation in the pediatric population.

OBJECTIVE: The aim of this study was to compare the accuracy of MRI, colostography/fistulography, and X-ray imaging modalities for preoperative diagnosis of anorectal malformations (ARMs) in pediatric patients. METHODS: This retrospective analysis included a total of 84 pediatric patients with ARMs. Preoperative imaging findings were assessed by 2 radiologists and compared to surgical findings. RESULTS: MRI identified anomalies of the spine in 25 of 84 patients (29.8%), anomalies of the genital system in 7 of 84 patients (8.3%), anomalies of the urinary system in 22 of 84 patients (26.2%), and underdeveloped sphincter muscle complex in 34 of 84 patients (40.5%). In the 44 subjects receiving both MRI and X-ray, MRI was more sensitive in detecting anomalies of spine (18/44 vs. 8/44; P = 0.002), and both correctly identified the distal end of the rectum in 77.3% (34/44) of the cases. In the 24 subjects receiving both MRI and colostography/fistulography, MRI was more accurate in identifying Pena's classification (22/24 vs. 15/24; P = 0.039). Distal end of the rectum was correctly identified in 75.0% (18/24) and 58.3% (14/24) of the cases (P = 0.125). CONCLUSIONS: MRI could clearly reveal fistula anatomy and associated anomalies of ARMs and should be routinely used for preoperative evaluation of ARMs. TYPE OF STUDY: Study of diagnostic test. LEVEL OF EVIDENCE: Level II.

Congenital heart disease associated with congenital diaphragmatic hernia: A systematic review on incidence, prenatal diagnosis, management, and outcome.

PURPOSE: The purpose of this study was to evaluate the impact of congenital heart disease (CHD) on infants with congenital diaphragmatic hernia (CDH). METHODS: Using a defined search strategy (PubMed, Cochrane, Embase, Web of Science MeSH headings), we searched studies reporting the incidence, management, and outcome of CDH infants born with associated CHD. RESULTS: Of 6410 abstracts, 117 met criteria. Overall, out of 28,974 babies with CDH, 4427 (15%) had CHD, of which 42% were critical. CDH repair was performed in a lower proportion of infants with CHD (72%) than in those without (85%; p < 0.0001). Compared to CDH babies without CHD, those born with a cardiac lesion were more likely to have a patch repair (45% vs. 30%; p < 0.01) and less likely to undergo minimally invasive surgery (5% vs. 17%; p < 0.0001). CDH babies with CHD had a lower survival rate than those without CHD (52 vs. 73%; p < 0.001). Survival was even lower (32%) in babies with critical CHD. CONCLUSION: CHD has a strong impact on the management and outcome of infants with CDH. The combination of CDH and CHD results in lower survival than those without CHD or an isolated cardiac defect. Further studies are needed to address some specific aspects of the management of this fragile CDH cohort. TYPE OF STUDY: Systematic review and meta-analysis. LEVEL OF EVIDENCE: Level III.

Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses.

BACKGROUND: Congenital space-occupying thoracic malformations and diaphragmatic hernia have in common pulmonary hypoplasia. Our study aims to assess cardiac involvement during post-natal adaptation. METHODS: A retrospective study was carried out on newborns with prenatally diagnosed intrathoracic mass. Gathering for respiratory distress syndrome (RDS), 35 neonates were compared for clinical course, cardiovascular enzymes, ECG, and ultrasound. RESULTS: The analysis revealed a high left heart defect rate in patients with severe RDS, without being influenced by the laterality. Ultrasound or laboratory assessment did not detect altered cardiac dimension or cardiomyopathy. Solely ECG signs of right ventricular strain were found. Increased QT-dispersion, T-wave and cardiac variability alterations in the first hours were all expression of non-specific cardiac repolarization disorders but predict worse outcome. CONCLUSIONS: Although RDS is the predominant symptom, slight cardiac dysfunctions should be recognized for prompt treatment. Conventional examinations for postnatal adaption should be integrated by complementary investigations.

Midterm Echocardiographic Assessment of Right Ventricular Function After Midline Unifocalization.

BACKGROUND: Patients with an open ventricular septal defect (VSD) after repair of pulmonary atresia (PA), VSD, and major aortopulmonary collaterals (MAPCAs) are the most vulnerable subgroup. We analyzed the impact of concomitant versus delayed VSD closure on survival and intermediate-term right ventricular (RV) function. METHODS: Between October 1996 and February 2017, 96 patients underwent a pulmonary flow study-aided repair of PA/VSD/MAPCAs. For patients who underwent either concomitant or delayed intracardiac repair, echocardiographic RV systolic function was retrospectively calculated to assess (1) RV fractional area change (RVFAC) and (2) two-dimensional RV longitudinal strain (RVLS) of the free wall of the right ventricle. QLAB cardiac analysis software version 10.3 (Philips Medical Systems, Andover, MA) was used for analysis. RESULTS: A total of 64 patients underwent concomitant VSD closure at the time of unifocalization, and 16 patients underwent delayed VSD closure at a median of 2.3 years (range: 3 days to 7.4 years). At a median follow-up of 8.1 years (range: 0.1 to 19.5 years) for the concomitant repair group versus 7.4 years (range: 0.01 to 15.3 years) for the delayed repair group, no differences in RVFAC and RVLS were observed (RVFAC: 41.0% ± 6.2% versus 41.2% ± 7.6%, p = 0.91; RVLS: -18.7 ± 4.3 versus -18.9 ± 4.0, p = 0.87). CONCLUSIONS: Patients (83%) with PA/VSD/MAPCAs underwent complete repair at intermediate-term follow-up with preserved RV function. Delayed VSD closure was accomplished in 50% of the patients initially deemed unsuitable for repair. Delayed VSD closure did not affect survival and did not portend impaired RV systolic function.

Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment.

OBJECTIVE: The aim of this study was to assess the capacity of three-dimensional ultrasound (3DUS) for predicting lethality in fetuses with skeletal dysplasia. METHODS: Twenty-four fetuses between 20 and 32 weeks of gestation were assessed. Bilateral lung volume scans were performed three times in each fetus during one ultrasound session. The virtual organ computer-aided analysis method was used to obtain a sequence of six sections of each lung around a fixed axis, and a rotation angle of 30° was adopted. Fetal lung volume measurements were analyzed according to the reference range. After birth, lung hypoplasia was diagnosed considering clinical and radiological criteria. RESULTS: Of all cases of skeletal dysplasia, 18 (75%) were lethal. Among the lethal cases, after postnatal diagnosis, four were osteogenesis imperfecta type II, three were thanatophoric dysplasia and two were campomelic dysplasia. The remaining nine cases remained without a definitive diagnosis. The accuracy of 3DUS in predicting lethality in fetuses with skeletal dysplasia was high, with a sensitivity of 83.3%, specificity of 100%, positive predictive value of 100% and negative predictive value of 66.7%. The kappa index of 0.174 showed a good agreement between the possibility of lethality when the 3DUS volume measurement was altered and real lethality after birth (p < 0.001). CONCLUSION: This study suggests that the 3DUS lung volume measurement is a good predictor of lethal pulmonary hypoplasia in fetuses with skeletal dysplasia, with high accuracy.

Intrauterine fetal demise after prenatal diagnosis of congenital heart disease: assessment of risk.

OBJECTIVES: Elective deliveries in fetal congenital heart disease (CHD) attempt to balance fetal and neonatal risk with the goal of optimizing overall outcome. However, the magnitude of the risk for intrauterine fetal demise (IUFD) is unclear. This study aimed to (1) determine the rate of IUFD and (2) identify fetal risk factors associated with IUFD. METHODS: Retrospective review of pregnancies complicated by CHD between 1998 and 2010. Data were collected regarding pregnancy outcome, extracardiac anomalies (ECA), genetic and cardiac diagnoses, severity of valve regurgitation, gestational age at birth and birth weight. Fisher's exact test and odds ratios were used to compare outcomes between groups. RESULTS: A total of 501 pregnancies analyzed resulted in 445 live births, 22 IUFD, 16 terminations and 18 unknown outcomes. Amongst IUFD, 27% had a genetic diagnosis, 50% had an ECA and 27% had severe valve regurgitation. IUFD odds increased threefold with ECA and sevenfold with severe valve regurgitation. IUFD occurred in 1.2% without risk factors. CONCLUSIONS: IUFD in fetuses with CHD is associated with ECA, genetic syndromes and severe valve regurgitation. In absence of these fetal characteristics, the occurrence of IUFD is low, although it remains higher than in fetuses without CHD.

Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment.

PURPOSE: Goldenhar syndrome consists of a combination of unilateral auricular appendages, auricular fistulas, and ocular epibulbar dermoids combined with a unilateral underdevelopment of the craniofacial structures and vertebral abnormalities. We aimed to elicit the underlying spine pathology in a group of patients via tomographic assessment. MATERIALS AND METHODS: Hemifacial microsomia, cranial asymmetry, multiple ear tags, skin tags around the mouth and microtia were the most prominent facial features encountered in six patients with Goldenhar syndrome. Torticollis and cervico-thoracic scoliosis were the major deformities encountered in all patients. Thoraco-lumbar scoliosis and kyphoscoliosis were of lesser occurrence. Tomographic studies have been applied to all patients to delineate the underlying pathology. RESULTS: Diverse spectrum of distinctive spine anomalies has been identified. Malsegmentation of the skull base associated with diffuse fusion with the upper cervical vertebrae was the most common spine pathology. Bilateral failure of segmentation, unilateral unsegmented bar and failure of vertebral formation were of lesser occurrence. Strikingly, we observed that the side of the hemifacial microsomia is strongly correlated with that of the craniocervical and the cervical vertebral abnormalities. CONCLUSION: The importance of this paper is threefold; first, little information is available in the literature regarding the magnitude and the diversity of spine pathology in patients with Goldenhar syndrome. Second, is to alert spine specialists that conventional radiographic assessment of the craniocervical area is an insufficient modality to assess children with syndromic associations. Third, a rotation and flexion deformity of the neck associated with facial asymmetry and/or plagiocephaly should be considered as a syndromic entity rather than a simple physiological deformation.

[Fetal hepatic artery flow assessment in prenatal diagnostics--a review of the literature]. / Ocena przeplywów w tetnicy watrobowej plodu w diagnostyce prenatalnej. Przeglad literatury.

Standards of screening tests for the most frequent fetal chromosomal defects in modern non-invasive prenatal diagnostics provide sensitivity of about 93-96%, with the false positive rate of 2.5%. During the first trimester scan, routinely performed between 11 and 13+6 week of pregnancy the calculation of the risk for chromosomal aberrations is based on maternal age (MA), nuchal translucency (NT), levels of free beta human chorionic gonadotropin (free beta-hCG), pregnancy associated plasma protein A (PAPP-A) in maternal blood, as well as the parameters from extended ultrasound examination like evaluation of the nasal bone (NB), blood flow in ductus venosus (DV), visualization of the tricuspid valve with potential regurgitation (TR) or measurement of the frontomaxillary facial angle (FMFA). The 100% detection rate remains unachievable at present, despite constantly improving guidelines for specialists, quality of imaging, and advancement in ultrasound technology Therefore, several studies have been undertaken to establish the group of 'additional markers' of chromosomal defects which, when combined with basic markers of routine screening tests, might increase the detection rate and approach it to 100%. Results of recent studies imply that evaluation of blood flow in fetal hepatic artery performed during the first trimester scan may become a new additional marker for chromosomal defects.

Assessment of pulmonary vascular reactivity to oxygen using fractional moving blood volume in fetuses with normal lung development and pulmonary hypoplasia in congenital diaphragmatic hernia.

OBJECTIVE: The objective of this study is to evaluate whether assessment pulmonary vascular reactivity in response to maternal hyperoxygenation using fractional moving blood volume (FMBV) is associated with lesser variability between individual measurements than what is observed with direct Doppler measurements. STUDY DESIGN: Forty-five measurements were performed in 15 singleton fetuses with normal lung development at three time points in the latter half of pregnancy (range: 25.9-36.7 weeks). We further evaluated five fetuses with severe congenital diaphragmatic hernia. Lung perfusion was assessed using power Doppler ultrasound, and images were stored for offline FMBV calculation, both at base line and during oxygen administration (9 L/min for 10 min). The proportionate difference between both measurements is further referred to as deltaFMBV. RESULTS: Overall, 91% of images were of sufficient quality for further analysis. There was no correlation between pulmonary reactivity to oxygen (deltaFMBV) and gestational age in controls (12.9 ± 32.1%). Moreover, deltaFMBV showed large variability between subjects, as well as within the same fetus throughout gestation. We observed good intraobserver (0.88; 0.84) and interobserver (0.88; 0.77) reproducibility for both controls and congenital diaphragmatic hernia, respectively (intraclass correlation coefficients). CONCLUSION: Despite being a reproducible method to study the lung vasculature, the large variability of FMBV following hyperoxygenation limits its clinical translation.

Three-dimensional echocardiographic assessment of patent foramen ovale in platypnea-orthodeoxia.

Platypnea-orthodeoxia is an uncommon syndrome characterized by positional dyspnea and hypoxia when upright that improves with lying down. We present a 75-year-old man with platypnea-orthodeoxia in the setting of a patent foramen ovale (PFO) and a 2.1 cm highly mobile atrial septal aneurysm with 2 cm bowing. Prior reports have established the use of three-dimensional echocardiography to facilitate percutaneous closure of PFO and atrial septal defect, but its use in patients with platypnea-orthodeoxia is unclear. We document three-dimensional echocardiographic images that accurately estimated PFO defect size and confirmed placement of the occluder device.

Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS).

BACKGROUND: Fetal Akinesia Deformation Sequence (FADS) is a rare, in most cases autosomal recessive, disorder. Its heterogeneous origin results in variable onset and expression of motor and postural anomalies. DNA-diagnostic possibilities are limited, thus prenatal diagnosis is chiefly dependent on sonographic examinations. AIM: To explore postural and motor development from a systematic sonographic protocol for fetuses at high risk for FADS. Specific questions are: which motor (i.e., specific movement patterns, quality and quantity of general movements) and postural aspects are most informative about emerging FADS and is the gestational age of onset range of FADS more limited for siblings? METHODS: Ten families underwent 45, 15-minute sonographic assessments for motility and posture for ten index fetuses with FADS and nine subsequent pregnancies from five families. RESULTS: FADS was diagnosed between 18 and 33 weeks gestation in ten index pregnancies and between 11 and 18 weeks gestation in 4/9 subsequent pregnancies, 1-12 weeks earlier than their index pregnancies. From the four assessment aspects, posture and movement quality were always abnormal, movement quantity in 7/14 and differentiation into specific movement patterns were reduced in comparison with healthy siblings (p<0.01). Deterioration occurred in a 2 week period. CONCLUSIONS: Serial postural and qualitative assessments were most informative diagnosing FADS. Quantity and differentiation into specific movement patterns contributed substantially. Onset range of FADS within siblings was suggested to be more limited than between families.

[Anomalous origin of the circumflex artery from the right aortic sinus: assessment with conventional coronary angiography and multislice computed tomography]. / Origine anomala dell'arteria circonflessa dal seno di Valsalva destro: valutazione mediante tomografia computerizzata multistrato ed angiografia coronarica convenzionale.

Anomalous origin of the circumflex coronary artery from the right sinus of Valsalva is the most common coronary anomaly. This anomaly is thought to be of little clinical significance without the presence of severe narrowing of the vessel. A 43-year-old woman was referred to our institution for evaluation of atypical chest pain and equivocal results of the exercise stress test. We decided to perform multislice computed tomography coronary angiography before any other invasive studies. The scan was performed with a 16-row scanner (Aquilion 16 CFX, Toshiba Medical Systems, Tokyo, Japan) after intravenous administration of non-ionic contrast material. Scans revealed that the circumflex coronary artery originated from the right sinus of Valsalva; the initial course was retro-aortic until it reached its target in the atrioventricular groove; peripheral distribution of the circumflex coronary artery was then normal. The anomalous vessel presented a significant stenosis in its proximal tract. Coronary angiography confirmed that the origin of the circumflex coronary artery was from the right aortic sinus and the significant stenosis of the proximal portion of this vessel. This case confirms the full capability and accuracy of multislice computed tomography with the aid of post-processing techniques in the identification and evaluation of the ectopic origin of the left circumflex coronary artery from the right sinus of Valsalva, displaying accurately the origin, size, course, and relationship of the anomalous vessel with respect to surrounding structures.

[Assessment of the reasons prompting a first echocardiography in children: a Lebanese multicenter study]. / Motifs de demande d'une première echocardiographie en pédiatrie: expérience multicentrique Libanaise.

OBJECTIVES: To study the different indications behind performance of a first Doppler echocardiography (DE) in children, to assess the results and their impact on the residency teaching program in Lebanon. MATERIAL AND METHODS: Retrospective study over a 40-month period, from March 1st, 2002, through June 30, 2005. Patients referred for the first DE were examined in different medical centers in Beirut, Mount-Lebanon and South Lebanon. RESULTS: 3137 new patients aged from 0 to 18 years (average: 54 months) were included in the analysis. The percentage of patients seen as outpatients was 48% ; in departments of pediatrics and emergency rooms: 38.2%; intensive care neonatal units: 13%; and in maternity wards/nurseries: 0.8%. 2198 patients (70.1%) had normal DE. Heart murmur accounts for 45.6% of DE requests, followed by extracardiac malformations and presence of dysmorphic features (7.2%), cyanosis (6.8%), suspicion of rheumatic fever (5.7%), cardiac arrhythmia (3.8%), bronchopneumopathies and respiratory distress (3.5%), chest pain and palpitations (3.3%). Innocent murmur was found in 53.9% of patients referred for heart murmur; among syndromes and malformations, Down's syndrome was the most frequent pathology, followed by polymalformations, the VACTERL syndrome and the cleft lip and palate. Cyanotic congenital heart disease was diagnosed in 34% of cases referred for cyanosis. The diagnosis of carditis was confirmed in 84.6% of children with clinical picture of rheumatic fever. In cases of malaise, dizziness and loss of consciousness, no abnormality was detected on DE. CONCLUSION: DE should be a complement to clinical exam, which is often sufficient to reveal a cardiac pathology. However, some conditions, where cardiovascular exam is normal require a DE. The question of when and why to request a DE must be a priority in the pediatric resident training program.

Assessment of major aortopulmonary collateral arteries with multidetector-row computed tomography.

Multidetector-row computed tomography (MDCT) studies were performed in three adult patients with pulmonary atresia with a ventricular septal defect. In all patients, the native pulmonary arteries were absent, and the pulmonary circulation was totally supplied by major aortopulmonary collateral arteries (MAPCAs). MDCT studies with 1-mm collimation provided detailed information on MAPCAs and bronchial collaterals, such as the numbers and sites of origin, their varying diameters, their courses, and the areas of the lungs they supply. MDCT studies may provide an efficient road map for safe and successful selective catheterization and may substitute for conventional angiography in patients with considerable risks.

[Assessment of the characteristics of echocardiography in pediatric patients with total anomalous pulmonary venous connection].

OBJECTIVE: To assess the accuracy of echocardiography in diagnosis of total anomalous pulmonary venous connection (TAPVC). METHODS: A combination of suprasternal, parasternal, subcostal and apical views were employed to diagnose TAPVC and to trace the course of the anomalous pulmonary venous connection, the direction of the inter-atrial shunt, enlargement of right atrium (RA) and right ventricle (RV), superior and inferior vena cava. All pediatric patients underwent surgical repair. The results of echocardiography were compared with surgical findings. RESULT: A total of 28 consecutive pediatric patients with suspected TAPVC were included in this study. The TAPVC diagnosis was confirmed in 26 cases after surgery, partial anomalous pulmonary venous connection (PAPVC) in one case, and Cor Triatriatum and possible TAPVC in another. The diagnostic accuracy of TAPVC by echocardiography in the study was 92.86%. There were 17 supracardiac TAPVC, 11 intracardiac TAPVC. In all patients, enlargement of the RA and RV, inter-atrial right-to-left shunt via atrial septal defects were documented in parasternal and subcostal views. Common pulmonary vein or four pulmonary vein direct to RA or via coronary sinus to RA were the draining sites of intracardiac TAPVC. The enlargement of left innominate vein-right superior vena cava draining to RA was seen in supracardiac TAPVC. CONCLUSION: A combination of suprasternal and subcostal multi-views in echocardiography can increase the diagnostic accuracy of TAPVC in pediatric patients.