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Objective: The purpose of this study was to calculate the yield rates of CMA in fetuses diagnosed with various CHDs in a tertiary center., Study Design: This cohort study collected prenatal genetic test results of 145 fetuses diagnosed with CHD. All 145 cases underwent Conventional karyotype (CK), followed by CMA in cases of negative CK result. "Detection rate" of genetic abnormalities was calculated as the percentage of cases with genetic abnormalities identified. The rate of genetic abnormalities detected by CK was first calculated, and then the cumulative detection rate was calculated in the study population. "Yield rate of CMA" was determined by subtracting the cumulative detection rate from the detection rate of CK. The cumulative detection rate was assumed to represent the detection rate of CMA since it is due to the fact that if CMA had been done for all patients before CK, it would have diagnosed all the genetic abnormalities in the study population, and thus it was named as anticipated CMA., Results: Of the 145 CHD cases, 92 (63.4%) had isolated CHD and 53 (36.6%) had concomitant CHD and extracardiac anomaly (ECA). The detection rate of genetic abnormalities was 14% and 33.8% for CK and anticipated-CMA respectively (p < .001). The yield rate of CMA was 19.8% and 16.1% before and after the exclusion of cases with 22q.11.2 deletion/duplication, respectively. The detection rates of genetic abnormalities for isolated CHD, and concomitant CHD-ECA groups were 6.5% and 26.4% by CK, and 23.9% and 50.9% by anticipated-CMA, respectively (p < .01). The yield rate of CMA was 17.4% and 24.5% for isolated CHD and concomitant CHD-ECA cases, respectively., Conclusion: CMA increases the diagnostic yield in fetuses with CHD, regardless of whether it is isolated or not. CMA should be the modality of choice when investigating the genetic origin of CHDs until whole exome or genome sequencing is implemented into routine clinical practice., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Glioneuronal heterotopias are rare malformations composed of differentiated derivates of neuroectodermal tissue that include disorganized neuronal and glial cells. They are typically located extracranially. The nasal cavity represents the most common location. Glioneuronal heterotopias have also been reported in the orbit, pharynx, middle ear, neck and thorax. Rarely, glioneuronal heterotopias may be located intracranially. We are aware of only 15 patients reported with intracranial extra-axial glioneuronal heterotopia (IEGH). We present the prenatal ultrasound and MRI as well as the matching postnatal CT, conventional MRI and diffusion tensor imaging findings of a newborn with an infratentorial IEGH accompanied with craniofacial anomalies., (Copyright © 2011 S. Karger AG, Basel.)

Fetal akinesia deformation sequence (FADS) is a rare condition characterized by intrauterine growth retardation (IUGR), congenital limb contractures, pulmonary hypoplasia, hydramnios and craniofacial abnormalities. The present report comprises an autopsy study of three fetuses to illustrate the variable clinical manifestations and neuropathological findings. Fetus 1 had arthrogryposis and no movement on fetal ultrasound examination. Aborted at 21 weeks, the fetus showed micrognathia, bilateral joint contracture with pterygia at the elbow and axilla. Growth retardation and pulmonary hypoplasia were not major features. Neuropathologic examination revealed anterior horn cell loss and lateral corticospinal tract degeneration in spinal cord, with marked muscular atrophy. Fetus 2, 20 weeks' gestation, had fetal akinesia, nuchal thickening, left pleural effusion, and Dandy-Walker malformation on ultrasound examination. Autopsy showed low-set ears, ocular hypertelorism, cleft palate, flexion contractures with pterygia over axilla, elbow and groin, pulmonary hypoplasia, Dandy-Walker malformation, unremarkable spinal cord and skeletal muscle. Fetus 3, 21 weeks' gestation, was aborted for fetal akinesia, neck and limb webbing and severe arthrogryposis. At autopsy, similar facial abnormalities, contracture and pterygia in neck and multiple major joints were found. Borderline pulmonary hypoplasia and severe lumbar scoliosis were also present. The brain, spinal cord and muscle were unremarkable. In these three fetuses, the prenatal ultrasound and autopsy findings were characteristic of FADS. Neurogenic spinal muscular atrophy was the basis of fetal akinesia in Case 1. Dandy-Walker malformation was present in Case 2, but the pathogenetic mechanism of fetal akinesia was not clear as spinal cord and muscle histology appeared normal. The etiology of akinesia was undetermined in Case 3; no extrinsic or intrinsic cause was identified., (Copyright 2002 John Wiley & Sons, Ltd.)

Babies who are small due to intrauterine growth restriction are at higher risk for poor perinatal and long-term outcome than those who are appropriately grown. Through multiple antenatal testing modalities a sequence of deteriorating fetal status can be documented in such cases. The nature of this compromise is best reflected by the combination of fetal biometry, biophysical profile scoring and arterial and venous Doppler. This combination accurately defines fetal states and therefore risk of stillbirth or poor transition to extrauterine life. In the preterm neonate, fetal factors, gestational age and neonatal course interact significantly to impact on short- and long-term outcomes. The potential for iatrogenic prematurity is great and ongoing appraisal of peripartum management is critical. An integrated management protocol accounting for these factors is examined in this review.

This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1.54 +/- 0.65 (range 0.5-2.9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1.35. Using a cut-off of 2.5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.

The relationship between the last biophysical profile score result and perinatal outcome was determined among a large referred population of high-risk pregnancies. A highly significant inverse linear correlation was observed for fetal distress, admission to neonatal intensive care unit, intrauterine growth retardation, 5-minute Apgar score less than 7, and umbilical cord pH less than 7.20 but not for the incidence of meconium or major anomaly. A highly significant inverse exponential (log 10) relationship was observed for perinatal mortality in total and by component parts and cause. These data strongly suggest the biophysical profile scoring method of fetal risk assessment is accurate and also provides insight into the extent of fetal compromise.

Antepartum detection, classification, determination of severity, and ultimately treatment of the fetus at risk for death and damage in utero form the very basis of modern perinatal medicine. The availability of accurate methods for assessing the fetus in utero are now becoming available. In extrauterine medicine, assessment of risk is based in part on the patient's activities and response to intrinsic and extrinsic stimuli. In extrauterine medicine, differentiation of normal sleep from coma is made by assessment of multiple biophysical variables and responses. It is most likely that the same principles hold true for differentiating the normal sleeping fetus from the asphyxiated fetus. Biophysical profile scoring offers one method for differentiation. It is likely that incorporation of this principle will improve the quality of perinatal care.

Severe oligohydramnios, defined as a condition in which the largest pocket of amniotic fluid measures less than 1 cm in its vertical axis as determined by an ultrasound method, was observed in 113 patients in a population of 15,431 referred high-risk patients (0.7%). In all cases, intervention took place unless there was a recognized structural anomaly or extreme prematurity. Overall gross perinatal mortality was 132.7/1000, and the incidence of major anomaly was 13.3%. With intervention the corrected perinatal mortality rate was 17.7/1000, a rate not significantly different from that observed in the entire population. All end points of perinatal mortality were significantly increased in patients with severe oligohydramnios, in comparison with randomly selected control subjects with normal amniotic fluid. These findings are interpreted to indicate that severe oligohydramnios in a structurally normal fetus is an indication for delivery.

Cord presentation was diagnosed antenatally in nine patients at term referred for fetal ultrasound assessment (incidence of 0.61%). Seven patients were delivered by cesarean section; cord position was confirmed in four and suspected in three patients. There were two vaginal deliveries, one following spontaneous version and the other a stillbirth associated with cord prolapse.

The fetal biophysical profile score was modified by selective use of the nonstress test. In 2712 study patients (7851 tests) the incidence of nonstress test was reduced to 2.7% with no measurable effect or test accuracy. The nonstress test was most useful in evaluation of abnormal ultrasound monitored variables.

The prenatal detection of a cystic hygroma (CH) in a fetus with a 45,X karyotype is described. The cystic hygroma underwent spontaneous resolution and a healthy baby with Turner syndrome was subsequently born. The implications for genetic counselling are discussed.

In the art of medicine we have always known that establishing an accurate diagnosis of health or disease is essential. An active search for the physical signs, both the time honoured and newly discovered, are a crucial step in achieving diagnostic accuracy, in monitoring disease progression, and in assigning prognosis. In extrauterine medicine it is common practice to gather together sets of biophysical data in order to determine immediate health, to monitor condition, and to estimate prognosis: witness the use of vital signs, and, in the newborn, the Apgar score. The providers of perinatal care have known since biblical days that fetal biophysical activities were a reflection of fetal condition (Luke: Chapter 1, Verses 44-45), yet lacked the ability to categorize these activities in an objective and complete manner. The introduction of dynamic ultrasound imaging methods to perinatal medicine at last create the window through which the principles of extrauterine medicine may now be applied to the intrauterine patient--the fetus. Fetal biophysical profile scoring is a method that utilizes this new wealth of information to differentiate the normal fetus from the fetus at risk for death or damage in utero. The method is based on the concept that the discrimination of fetal health and disease improves as more variables are considered. The now extensive clinical experience with the method, in which both overall (gross) and selected (corrected) perinatal death are reduced, while maintaining a remarkably low false negative predictive error, indicate the validity of the concept. Comparative studies lead us to believe that reliance upon single biophysical variables, such as fetal movement counts, or antepartum fetal heart rate monitoring, is no longer of sufficient accuracy to support its use as a sole measure of fetal condition. Looking forward, we anticipate that while the concept on which fetal biophysical profile scoring is based will remain unchanged, inclusion of additional variables is likely to occur. It seems likely that addition of new variables, as may be now measured using high-resolution dynamic ultrasound methods, both B-mode and Doppler, will improve diagnostic accuracy even more. We believe that the application of the current and future modified methods of composite fetal risk assessment will render the occurrence of the tragedy of perinatal loss even more infrequent. While the goal of complete elimination of perinatal deaths remain elusive, this method may be one step towards this goal.

ABSTRACT Objective To examine the relationship between hematologic parameters at birth and prenatal progression of Doppler abnormalities in fetal growth restriction ( FGR). Methods The study was a secondary analysis of FGR patients (abdominal circumference < 5th percentile and umbilical artery pulsatility index ( UA-PI) elevation) with at least three examinations prior to delivery. Prenatal progression was classified as rapid, moderate or slow based on the interval between diagnosis and delivery and the extent of UA, middle cerebral artery and ductus venosus Doppler abnormalities. Associations between diagnosis-to-delivery interval, Doppler Z-scores, progression and hematologic parameters at birth were examined. Results Of 130 patients, 54 (41.5%) had rapid, 51 (39.2%) moderate and 25 (19.2%) slow deterioration, delivering within 4, 6 and 9 weeks of diagnosis, respectively. The strongest association of moderate and rapid deterioration was with a low platelet count ( r2 = 0.37 and 0.70, respectively; P < 0.0001). In patients with moderate deterioration, platelet count correlated inversely with UA-PI (ρ = −0.44, P = 0.001) and was lowest when end-diastolic velocity was absent. With rapid progression, platelet count correlated inversely with nucleated red blood cell count (ρ = −0.51, P < 0.001) but no longer with UA-PI. Conclusion Our observations suggest a relationship between prenatal clinical progression of FGR and hematologic abnormalities at birth. Accelerating cardiovascular deterioration is associated with decreased platelet count, which can be explained by placental consumption or dysfunctional erythropoiesis and thrombopoiesis. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To evaluate relationships between neonatal intraventricular hemorrhage and altered brain blood flow in preterm growth-restricted fetuses. Methods One hundred and thirteen growth-restricted fetuses (birth weight < 10th centile and umbilical artery pulsatility index > two standard deviations above gestational age mean) which delivered prematurely (< 34.0 weeks) were studied. Three expressions of altered brain blood flow were defined: ‘brain sparing’= middle cerebral artery pulsatility index > two standard deviations below the gestational age mean, ‘centralization’ = ratio of middle cerebral artery/umbilical artery pulsatility indices (cerebroplacental ratio) > two standard deviations below the gestational age mean, and ‘redistribution’ = absent or reversed umbilical artery end-diastolic velocity. Intraventricular hemorrhage was graded after Papile (I–IV) by cranial ultrasound performed within 7 days of delivery. Results Sixty-seven (59.3%) fetuses had brain sparing, 84 (74.3%) had centralization and 51 (45.1%) had redistribution. Fifteen (13.3%) neonates had intraventricular hemorrhage and were more likely to have a biophysical profile < 6, earlier delivery for fetal indications, lower cord artery pH, HCO3 , hemoglobin, and platelets, a 10-min Apgar score < 7 and high perinatal mortality (5/15; 33.3%). No associations between intraventricular hemorrhage and brain sparing or centralization were identified. However, neonates with intraventricular hemorrhage had significantly higher umbilical artery pulsatility index deviations from the gestational age mean and a relative risk of 4.9-fold for intraventricular hemorrhage with redistribution (95% confidence interval, 1.5–16.3; P < 0.005). Multiple logistic regression revealed significant associations between intraventricular hemorrhage and a low 10-min Apgar score (r = 0.30, P < 0.005) and low hemoglobin (r = 0.28), gestational age at... [ABSTRACT FROM AUTHOR]

Abstract Background Cardiac anomalies may be associated with abnormal coronary vascular connections. We report the prenatal diagnosis of ventriculocoronary fistula in three fetuses with associated cardiac anomalies. Materials and Methods Fetal echocardiography was performed in three patients referred for suspected cardiac anomaly. Two-dimensional fetal echocardiography was complemented by color Doppler flow imaging and spectral Doppler in all cases. Results A ventriculocoronary fistula was diagnosed in three patients referred at 22, 23 and 32 weeks. The first patient had hypoplastic left heart associated with transposition of the great arteries and pulmonary atresia with an intact interventricular septum. The coronary fistula arose from the transposed aorta to the left ventricle. In two patients ventriculocoronary fistula was found in association with pulmonary atresia and an intact interventricular septum. In all cases there was bidirectional flow within the fistula (diastolic blood flow towards the ventricle with reversal during ventricular systole). The pregnancy with hypoplastic left heart with transposition, and one of those with pulmonary atresia resulted in neonatal death and stillbirth, respectively. In the third instance the ventriculocoronary fistula was verified by postpartum cardiac angiography. The infant initially received a Blalock–Taussig shunt, subsequently replaced by a bidirectional Glenn shunt, and was doing well at the time of writing. Conclusion A ventriculocoronary fistula can be identified prenatally by color and spectral Doppler. This anomaly should be sought in fetuses with outflow tract obstructive cardiac lesions and an intact interventricular septum. Prenatal diagnosis allows early angiography postnatally. Delineation of coronary vascular regions may therefore facilitate preoperative planning. [ABSTRACT FROM AUTHOR]

An abstract of the research paper "Reproducibility of Four-Dimensional Ultrasound With Spatiotemporal Image Correlation (STIC) in the First Trimester Detection of Cardiac Anomalies," by S. Turan and colleagues is presented.