scholarly journals Normal mid-gestation fetal ultrasonography cannot reliably exclude severe perinatal hypophosphatasia

Author(s):  
Amish Chinoy ◽  
Chibuike Iruloh ◽  
Bronwyn Kerr ◽  
M Zulf Mughal ◽  
Raja Padidela
2010 ◽  
Vol 6 (4) ◽  
pp. 340-345 ◽  
Author(s):  
Pierpaolo Peruzzi ◽  
Rebecca J. Corbitt ◽  
Corey Raffel

Object The use of fetal MR imaging for the in utero evaluation of pathological conditions of the CNS is widely accepted as an adjunct to fetal ultrasonography studies. Magnetic resonance imaging is thought to characterize CNS anomalies better, and to provide a more exact diagnosis and accurate prognosis. The purpose of this study was to determine the role of and indications for fetal MR imaging in evaluating fetuses with different CNS abnormalities that were seen initially on prenatal sonograms. Methods Over a 3-year period, fetuses with prior sonographic evidence of CNS abnormalities who consequently received prenatal MR imaging at Columbus Nationwide Children's Hospital within 2 weeks of the fetal ultrasonography study were included in this study. For each patient, radiological reports from both studies were reviewed, analyzed, and compared with the findings at postnatal imaging or physical examination. Results of the 2 modalities were then compared in terms of diagnostic accuracy. Results Twenty-six fetuses were included in this study on the basis of an in utero sonogram showing a CNS anomaly. Their gestational age ranged from 17 to 35 weeks, with a mean of 25 weeks at the time of fetal ultrasonography. Hydrocephalus was identified in 16 fetuses, 6 had evidence of a spinal dysraphic defect, 2 had holoprosencephaly, 1 had an encephalocele, and 1 had multiple body abnormalities requiring detailed CNS evaluation. Twenty-five of the fetuses were correctly evaluated as having abnormal CNS findings on both fetal ultrasonography and fetal MR imaging. Fetal ultrasonography provided a correct prenatal diagnosis in 20 cases, whereas fetal MR imaging was correct in 22 cases. There were 9 cumulative false-positive results for fetal ultrasonography and 7 for fetal MR imaging, whereas for false-negative results there were a total of 34 and 19, respectively. Conclusions Fetal MR imaging is more sensitive in detecting fetal CNS abnormalities, but its ability to provide a correct prenatal diagnosis is only marginally superior to fetal ultrasonography. Moreover, fetal MR imaging is not exempt from misdiagnosis, and still shows a significantly high rate of false-negative results. Particularly for spinal dysraphic defects, fetal MR imaging does not seem to add important diagnostic or prognostic details when compared with fetal ultrasonography.


2021 ◽  
Vol 49 (10) ◽  
pp. 030006052110537
Author(s):  
Yujiao Ye ◽  
Ruiqi Tang ◽  
Beibei Liu ◽  
Yi Li ◽  
Yunlu Mo ◽  
...  

Congenital granular cell epulis (CGCE) is a rare benign soft tissue lesion that usually originates from the neonatal gingiva and can lead to difficulty in breathing and feeding upon birth. This current case report describes a female newborn with a gingival mass that was identified by prenatal fetal ultrasonography. At birth, the oral mass was observed to protrude from the mouth, which adversely affected feeding. The lips could not be closed. The breathing was unaffected. Through a multidisciplinary team approach involving several healthcare professionals, the mass was successfully removed under general anaesthesia during an uncomplicated surgical procedure. Postoperative histopathological examination confirmed that the mass was a CGCE of the newborn. The infant recovered well after the operation.


1996 ◽  
Vol 25 (5) ◽  
pp. 339-345 ◽  
Author(s):  
Katherine J. Devonald ◽  
Winthrop J. Harewood ◽  
David A. Ellwood ◽  
Andrew F. Phippard

Author(s):  
Sarah Hamilton ◽  
Alexander Heazell

2012 ◽  
Vol 9 (3) ◽  
pp. 274-279 ◽  
Author(s):  
Joshua J. Chern ◽  
Jennifer L. Kirkman ◽  
Chevis N. Shannon ◽  
R. Shane Tubbs ◽  
Jeffrey D. Stone ◽  
...  

Object Various cutaneous stigmata and congenital anomalies are accepted as sufficient reasons to perform lumbar ultrasonography as a screening tool to rule out occult spinal dysraphism (OSD). The purpose of this study was to correlate presenting cutaneous findings with lumbar ultrasonography results based on a large number of lumbar ultrasonography tests obtained by regional primary care providers. Methods Over the course of 5 years, 1273 infants underwent lumbar ultrasonography screening at a major pediatric tertiary referral center. Of these infants, 1116 had adequate documentation for retrospective chart review. Referral sources included urban academic, urban private practice, and surrounding rural private practitioners. Presence of cutaneous stigmata and/or congenital anomalies and lumbar ultrasonography results were reviewed for all patients. When present, surgical findings were reviewed. Results A total of 943 infants were referred for presumed cutaneous stigmata, the most common of which was a sacral dimple (638 patients [68%]) followed by hairy patch (96 patients [10%]). Other reported cutaneous findings included hemangioma, deviated gluteal fold, skin tag, and skin discoloration. In comparison, 173 patients presented with congenital anomalies, such as imperforate anus (56 patients [32%]) and tracheoesophageal fistula/esophageal atresia (37 patients [21%]), most of which were detected prenatally by fetal ultrasonography. A total of 17 infants underwent surgical exploration. Occult spinal dysraphism was diagnosed in 7 infants in the cutaneous stigmata group and in 10 infants in the group with congenital abnormalities. None of the cutaneous stigmata as recorded were found to be indicative of the presence of OSD. Conclusions Cutaneous markers as currently defined by general practitioners are not useful markers for predicting OSD. The vast majority of findings on lumbar ultrasonography studies performed under these circumstances will be negative.


2012 ◽  
Vol 10 (2) ◽  
pp. 154-158 ◽  
Author(s):  
Seiichiro Eguchi ◽  
Yasuo Aihara ◽  
Kohji Yamaguchi ◽  
Yoshikazu Okada

A fetus at 30 gestational weeks was observed on fetal ultrasonography to have a dilated right lateral ventricle. After delivery, the entity was diagnosed as a prenatal intracerebral hemorrhage (ICH) due to a ruptured arteriovenous malformation (AVM). Ultrasonography and MRI examinations performed before birth indicated a cerebral aneurysm in the territory of the right middle cerebral artery. However, digital subtraction angiography revealed an intracystic hemorrhage due to a ruptured cerebral AVM. Arteriovenous malformations in children are rare, difficult to diagnose, and result in permanent sequelae after delayed treatment. Patient prognosis depends on early and accurate diagnosis and intervention. Outcomes can be improved if an AVM in a child is detected at the onset of ICH for young infants in the prenatal or early postnatal periods. Early AVM diagnosis is limited to fetal ultrasonography and MRI, and special consideration through invasive examination including neonatal digital subtraction angiography is urged unless a correct and clear diagnosis is made at an early stage. Prenatal ICH due to an AVM is rare. The authors discuss their observations and findings.


2014 ◽  
Vol 44 (S1) ◽  
pp. 131-131
Author(s):  
G. Marchitelli ◽  
J. Stirnemann ◽  
V. Rousseau ◽  
M. Acanfora ◽  
L.J. Salomon ◽  
...  

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