Postnatal Physical Examination Research Articles

Diagnostic performance of two ultrasound techniques for the detection of cleft palate without cleft lip: axial-transverse and equal sign.

There is no study that compares the diagnostic performance of ATV and ESV techniques in detecting cleft palate. We aimed to evaluate the diagnostic accuracy of two ultrasound techniques: axial-transverse (ATV) and "equal sign" view (ESV), in detecting fetal cleft palate without cleft lip. This prospective study was conducted from March 2019 to January 2022 in a tertiary referral hospital. Secondary palates were assessed with ATV and ESV by two experienced fetal medicine specialists who were blinded to each other's ultrasound findings. Final diagnosis was done according to postnatal physical examination. The sensitivity and specificity of the two techniques were calculated. A total of 311 pregnancies which met the study criteria were evaluated. Postnatal physical examination showed that 13 (0.4%) neonates had cleft palate only (CPO). According to final diagnosis the sensitivity, specificity, positive predictive value and negative predictive value for ATV were 100%, 98.7%, 76.4%, 100% and 100% for ESV were 76.9%, 97.8%, 58.9% and 99%, respectively. ATV in 2D ultrasound provides higher sensitivity and specificity than ESV in detecting CPO.

EP409: Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests

Skeletal dysplasias (SDs), a heterogeneous group comprising over 450 genetic disorders, are typically diagnosed by a combination of prenatal ultrasonography, postnatal physical examination, radiography, clinical history, and/or molecular testing. Some SDs are exceedingly rare and difficult to diagnose. Furthermore, while examination and radiographs may lead to a diagnosis within a class of disorders (such as dysostosis multiplex leading to mucopolysacharridosis (MPS) diagnosis), diagnosing the specific subtype can be especially challenging.

OEIS Syndrome: Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects

OEIS Syndrome: Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects

Revisiting Skeletal Dysplasias in the Newborn.

With over 400 reported disorders, the skeletal dysplasias represent a myriad of molecularly-based skeletal abnormalities. Arising from errors in skeletal development, the clinical spectrum of disease evolves through an affected individual's life. The naming and grouping of these disorders are ever-changing, but the fundamentals of diagnosis remain the same and are accomplished through a combination of prenatal ultrasonography and postnatal physical examination, radiography, and genetic analysis. Although some disorders are lethal in the perinatal and neonatal periods, other disorders allow survival into infancy, childhood, and even adulthood with relatively normal lives. The foundation of management for an affected individual is multidisciplinary care. Medical advances have offered new insights into reducing common morbidities through pharmacologic means. This review summarizes the normal skeletal development and discusses the 3 most common skeletal dysplasias that can affect the newborn.

Infrequent association of two rare diseases: amniotic band syndrome and osteogenesis imperfecta

Abstract Objectives Amniotic band syndrome and osteogenesis imperfecta are two distinct diseases that develop due to structural defects of the collagen protein. In our paper, we report the concurrence of these two diseases rarely seen in the newborn period. Case presentation A female infant born at 33rd gestational week was found to have constrictive bands in her right lower extremity and flexion contractures in distal joints of lower and upper extremities due to amniotic bands in postnatal physical examination. While being treated for respiratory difficulty, she was diagnosed with osteogenesis imperfecta and treated with bisphosphonates upon being found to suffer bilateral humeral fractures on the sixth day of life. She received respiratory support with mechanical ventilation due to respiratory tract complications related to osteogenesis imperfecta and died on the 384th day of life. Conclusions One should bear in mind that other collagen tissue diseases may accompany the amniotic band syndrome; this possibility should be definitely pursued if clinical suspicion exists.

Differential Diagnosis of Amniotic Band and Intrauterine Synechiae in Second Trimester Pregnancy: Case Report

Amniotic band sequence (ABS) describes highly variable spectrum of congenital anomalies that occur in association with amniotic bands. İntrauterine synechiae is a condition in which scar tissue develops within the uterine cavity. We aim to present a case of ABS and a case of intrauterine synechiae and compare their ultrasonographic findings. Ultrasonography revealed contraction ring in the right groin area of the first fetus but second fetus was healthy. The diagnosis of ABS is based upon the presence of characteristic structural findings on prenatal ultrasound or postnatal physical examination. The diagnosis of intrauterine adhesions is based upon visualization of intrauterine adhesions either directly by hysteroscopy or indirectly by other imaging studies. The floor of the intrauterine adhesions is widely and lateral of the uterine cavity and occurs from four layers while the amniotic band is a thin layer and forms fluctuations in the amniotic fluid. Amniotic bands may cause variable spectrum of congenital anomalies whereas intrauterine adhesions do not increase the probability of fetal anomaly because it is out of the amniotic cavity.

The prenatal diagnosis and classification of cleft palate: the role and value of magnetic resonance imaging.

The aim of this study was to evaluate the value of MRI in the prenatal diagnosis and classification of cleft palate (CP). We collected 94 fetal cases that were suspected of cleft palate with or without cleft lip by prenatal ultrasound (US) and then carried out further MRI to examine the entire body of each fetus within 1week. The diagnoses resulting from MRI and US examination were compared separately with the final diagnoses obtained from postnatal physical examination or fetal autopsy. The diagnostic accuracy between MRI and US was then determined. During the follow-up period, the results for 6 fetuses (6.38%) were lost. Of the remaining 88 cases, the final diagnoses identified 23 cases of cleft lip (CL), 45 cases of unilateral cleft lip with cleft palate (UCLP), 4 cases of median cleft lip with cleft palate (MCLP), 12 cases of bilateral cleft lip with cleft palate (BCLP), 3 cases of unilateral cleft lip and cleft alveolus (CLA), and 1 case of isolated cleft palate (CPO). The total accuracy rate of US was 59.09%, while that of MRI was 92.05%. More importantly, 81 cases were accurately identified by MRI; the accuracy rate for CL, UCLP, MCLP, BCLP, CLA, and CPO was 86.96%, 95.56%, 100%, 91.67%, 66.67%, and 100%, respectively. Our results suggest that MRI could be a useful adjunct to US examination in the prenatal diagnosis of fetuses with cleft palate, and further demonstrates the classification and degree of involvement of the cleft palate. • MRI is a useful adjunct to prenatal ultrasound. • MRI has a higher accuracy rate for CP. • The accurate classification of CP diagnosed by MRI can guide clinical management.

Perinatal testicular torsion - Not an uncommon entity

Perinatal testicular torsion is a rare condition with an incidence of 1 in 7500 live births. 70% are prenatal and 30% postnatal. Postnatal torsion presents as an acute scrotum, whereas prenatal torsion may be usually missed as it is a non-tender hard mass. Management of prenatal torsion is controversial. We are reporting three such case series presenting within a period of 1 year. Prenatal testicular torsion is usually missed as it is asymptomatic and later presents as cryptorchid. Careful postnatal physical examination and documentation is essential, as a missed case can later present as cryptorchid and may lead to medicolegal issues. In torsion in the immediate perinatal period, the testis may be salvaged if promptly operated.

Anomalias Congénitas Identificadas ao Nascimento em Recém-Nascidos de Mulheres Adolescentes

To analyze the prevalence of congenital anomalies detected at birth among children of pregnant adolescents, emphasizing the most common types and the time of diagnosis. Retrospective study of type census, in which were analyzed in all newborns, living or dead, weighing more than 500 g of women who gave birth at Hospital São Paulo in a period of six years. The fetuses bearing anomalies were identified prenatally or through postnatal physical examination period, according to the criteria of the Latin American Collaborative Study of Congenital Malformations. The results were expressed descriptively using absolute and relative values, the prevalence of anomalies was calculated, as well as the comparison between groups using nonparametric tests. We analyzed 6 257 pregnancies, of which 577 newborns had some congenital anomaly identified at birth (prevalence 9.2%). Among these 6 257, 907 were adolescents, which showed a 9.9% prevalence of anomalies among their newborns. There was no significant difference between the presence of abnormalities in newborns of adolescents and women with age greater than or equal to 20 years. About 56% of congenital anomalies were diagnosed in the prenatal period. We observed a higher prevalence of defects of neural tube between newborns of adolescents (p = 0.027). We observed high rate of deliveries in adolescents, higher than developed countries. We observed also high frequency of congenital anomalies in newborns, probably because our tertiary reference center. The high prevalence of neural tube defect among young pregnant women could be explained by the absent of acid folic supplementation in non-planned gestations which is typical of adolescents. The prevalence and time of diagnosis of congenital anomalies showed similar behavior among newborns of teenagers and women with age greater than or equal to 20 years, except for the defects of the neural tube, which were more prevalent among newborns of teenagers.

Deviation of the penoscrotal median raphe: Is it a normal finding or within the spectrum of hypospadias?

Introduction and Objectives:Hypospadias is the most common congenital abnormality of the penis, and is most commonly diagnosed during the postnatal physical examination. However, milder forms of the condition can be difficult to detect, leading to delayed referral to specialist teams. We aim to determine whether there is an association between hypospadias and the position of the penoscrotal raphe.Materials and Methods:A case — control study was performed where clinical photographs from children undergoing hypospadias correction were compared with a control group of children without the condition. The position of the penoscrotal raphe was documented as midline, left or right. Pearson's chi squared test was used to determine significance.Results:Images for 80 children undergoing hypospadias correction were compared with 80 normal children in the maternity ward. 88.8% of the children with hypospadias had a penoscrotal raphe deviated from the midline compared with only 13.8% in the control group (P < 0.0003).Conclusions:Our study demonstrates a significant association between hypospadias and deviation of the penoscrotal raphe from the midline. Consideration should be given to whether to include this finding within the spectrum of abnormalities seen in hypospadias. Examination of the penoscrotal raphe is simple to perform and could aid in the early diagnosis in children with milder forms of the condition.

Use of foetal MRI in diagnosing hepatic hemangioendotheliomas: A report of four cases

Objective To examine the appearance of foetal hepatic hemangioendotheliomas using prenatal magnetic resonance imaging (MRI) and to conclude whether MRI provides additional information to that obtained with ultrasonography (US). Materials and methods Four foetuses with hepatic hemangioendotheliomas were evaluated by US and MRI between 2005 and 2008. MRI was performed on four foetuses at 33 + 4, 37 + 4, 24 and 21 + 6 weeks gestation following US evaluations that demonstrated foetal abdominal tumours. The prenatal US and MRI findings were compared with the postnatal physical examination, enhancement computed tomography (CT) and serial ultrasound examinations, or with the pathology exams, retrospectively. Results All four foetuses showed very similar prenatal MRI findings. In each case, the foetal MRI detected an isolated vascular hepatic tumour with low T1 and inhomogeneous high T2 signal intensity. In one case, multiple scalp hemangiomas were detected in the postnatal physical examination, but not with the prenatal US and MRI exams. In the other three cases, the prenatal US and MRI findings were in complete agreement with the postnatal diagnoses. Conclusion Prenatal MRI is effective in the assessment of foetal hepatic hemangioendotheliomas. Prenatal MRI may provide a useful adjunct to US in assessing foetal hepatic tumours.

Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

Objective To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results Final diagnoses confirmed incomplete midline cleft lip ( n = 1), unilateral cleft lip and palate ( n = 7), bilateral cleft lip and palate ( n = 1), midline cleft lip and palate ( n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

Agenesia del corpo calloso in feti con ventricolomegalia lieve: ruolo della RM

We evaluated the role of magnetic resonance (MR) imaging in the diagnosis of corpus callosum agenesis - isolated or associated with other anomalies - in fetuses with mild cerebral ventriculomegaly, as depicted at prenatal sonography. Between January 2005 and March 2007, 33 fetuses with a mean gestational age of 28.9 weeks (range 17-37) and mild ventriculomegaly diagnosed at prenatal sonography were included in this prospective study. All fetuses underwent MR imaging according to the following protocol: half-Fourier T2-weighted images along the three orthogonal plane according to the longitudinal axis of the mother, and subsequently three orthogonal planes were acquired according to the fetal brain. Quantitative image analysis included the size of the transverse diameter of the lateral ventricles, in the axial plane, and the thickness of the adjacent cerebral cortex. Qualitative image analysis included morphology of the lateral ventricles (normal, parallel pattern colpocephaly), signal intensity changes of the fetal brain, interruption of the germinative matrix, agenesis of the corpus callosum (complete/partial) and associated malformations. Postnatal physical examination and diagnostic imaging, as well as surgery, were the standard of diagnosis. Mean axial diameter of the lateral ventricle was 11.6 mm (range 10-15 mm), and mean thickness of the adjacent cerebral cortex was 2.1 mm (range 1.8-3 mm); 23/33 fetuses (70%) showed normal morphology of the lateral ventricles, and 8/33 (24%) showed abnormal morphology (parallel pattern, colpocephaly). The entire corpus callosum was visualised in 20/33 fetuses (60%). In 8/33 fetuses (25%), partial agenesis was diagnosed, whereas in 5/33 (15%), there was hypogenesis. In 6/13 fetuses (46%), isolated corpus callosum agenesis was detected, and two cases of hypogenesis of the corpus callosum were misinterpreted - overestimated in one case and underestimated in another. MR imaging may prove to be a useful second-line imaging modality in the prenatal diagnosis of corpus callosum agenesis in fetuses with mild ventriculomegaly.

Prevalence and Evolution of Intracranial Hemorrhage in Asymptomatic Term Infants

Subdural hemorrhage (SDH) is often associated with infants experiencing nonaccidental injury (NAI). A study of the appearance and natural evolution of these birth-related hemorrhages, particularly SDH, is important in the forensic evaluation of NAI. The purpose of this study was to determine the normal incidence, size, distribution, and natural history of SDH in asymptomatic term neonates as detected by sonography (US) and MR imaging within 72 hours of birth. Birth history, delivery method, duration of each stage of labor, pharmaceutic augmentation, and complications during delivery as well as postnatal physical examination were recorded. Brain MR imaging and US were performed on 101 asymptomatic term infants at 3-7 days, 2 weeks, 1 month, and 3 months. Clinical follow-up at 24 months was recorded. Forty-six neonates had SDH by MR imaging within 72 hours of delivery. SDH was seen in both vaginal and cesarean deliveries. All neonates were asymptomatic, with normal findings on physical examination. All 46 had supratentorial SDH seen in the posterior cranium. Twenty (43%) also had infratentorial SDH. US detected 11 of the 20 (55%) infratentorial SDHs and no supratentorial SDH. Most SDHs present at birth were <or=3 mm and had resolved by 1 month, and all resolved by 3 months on MR imaging. Most children with SDHs had normal findings on developmental examinations at 24 months. SDH in asymptomatic term neonates after delivery is limited in size and location.

Fast MR imaging of fetal central nervous system abnormalities.

To evaluate with respect to gestational age (GA) the effect of magnetic resonance (MR) imaging on changes in diagnosis, patient counseling, and case management regarding fetuses suspected of having central nervous system (CNS) anomalies. The authors compared images from 242 ultrasonographic (US) studies and 242 MR imaging studies of the CNS in 214 fetuses. Reference standards of postnatal physical examination, imaging, surgical, and autopsy findings were available in 171 (79.9%) fetuses. Referring physicians were surveyed on how MR imaging findings changed patient counseling or case management. Outcomes were compared with respect to GA. Statistical tests used were the Fisher exact test, Student t test, and analysis of variance. Confirmatory US findings were normal in 69 fetuses. MR imaging findings changed diagnosis in 46 of 145 (31.7%) fetuses with abnormal US findings. The mean GA of 72 of 145 fetuses with changes in maternal counseling (25.9 weeks) was significantly greater than that in 73 of 145 fetuses without changes in maternal counseling (22.6 weeks, P <.01). The mean GA of the 46 fetuses with changes in diagnosis (26.3 weeks) was significantly greater than that of the 99 fetuses with no major change in diagnosis (23.3 weeks, P <.01). There were 27 of 145 changes in case management, with no significant difference in mean GA of fetuses with and those without changes in case management. In fetuses with abnormal US findings, MR images were used to decide to terminate the pregnancy (n = 13; mean GA, 20.1 weeks), continue the pregnancy (n = 4; mean GA, 19.2 weeks), direct the mode and/or location of delivery (n = 5; mean GA, 30.5 weeks), and direct perinatal care (n = 5; mean GA, 30.2 weeks). When a CNS anomaly is detected or suspected at US, MR imaging may demonstrate additional findings that can alter diagnosis and case management. Changes in management are GA dependent.

Clinical course and outcome for children with multicystic dysplastic kidneys.

The purpose of this study was to evaluate the clinical course and outcome for children with multicystic dysplastic kidney (MCDK) disease and to non-invasively predict which of these patients are at significant risk for developing urinary tract infection (UTI) and renal insufficiency. Patients were divided, on the basis of postnatal physical examination and renal ultrasonography, into simple or complex MCDK. Simple MCDK was defined as unilateral renal dysplasia without additional genitourinary (GU) abnormalities. Complex MCDK included patients with bilateral renal dysplasia or unilateral renal dysplasia with other GU abnormalities. The designation as simple or complex MCDK was independent of reflux, since routine voiding cystourethrography (VCUG) was not performed. The charts of all patients with the diagnosis of MCDK disease seen from August 1995 to March 1999 at Yale University School of Medicine were examined to determine: (1) if UTI had occurred and (2) the level of renal function at last follow-up. Thirty-five patients were evaluated: 28 (80%) patients had unilateral MCDK, 7 (20%) were bilateral, and 14 (40%) had associated GU anomalies. Overall, 21 patients had unilateral MCDK without GU abnormalities (simple MCDK), while 14 had complex MCDK. The final outcome for patients with simple MCDK was quite good, with normal renal function and compensatory hypertrophy of the contralateral kidney in all patients. Although the patients with simple MCDK did not have routine VCUG or prophylactic antibiotics, the development of UTI was infrequent, damage to the contralateral kidney did not occur, and renal function was well preserved. In contrast, patients with bilateral disease or associated GU anomalies had a higher incidence of UTI and progression to renal failure. Complex MCDK was associated with a worse outcome (50% chronic renal insufficiency or failure).

Fetal central nervous system anomalies: MR imaging augments sonographic diagnosis.

To evaluate fetuses with sonographically suspected central nervous system anomalies to determine the frequency with which obstetric magnetic resonance (MR) imaging adds clinically useful information to that provided by ultrasonography (US). US and MR images and diagnoses in 18 pregnant women were reviewed and compared by two radiologists. Postnatal physical examination and imaging findings and fetal autopsy results were standards. Referring physicians were questioned as to how the additional information provided by MR imaging changed patient counseling. In 10 (55%) patients, MR imaging demonstrated 11 additional findings. These findings were agenesis of the corpus callosum (n = 4), cerebellar hypoplasia (n = 2), cortical cleft (n = 2), polymicrogyria (n = 1), porencephaly (n = 1), and partial agenesis of the septi pellucidi (n = 1). In seven (39%) patients, additional information provided by MR imaging altered counseling. In one case of suspected agenesis of the corpus callosum, diagnosis at MR imaging was at least partially incorrect. US and MR imaging are complementary imaging methods in the evaluation of high-risk pregnancy. When a central nervous system anomaly is suspected at US, MR imaging may demonstrate additional findings that can alter patient counseling.

Case 61: Tongue mass in an infant

A 6-week-old Hispanic male was referred to the Department of Oral and Maxillofacial Sugery at the University of IIIinios by his pediatrician for evaluation of a tongue mass. The patient's mother stated that she had noticed the lesion upon bringing the infant home from the hospital. No mention was made of the lesion in the report of the routine postnatal physical examination. There was apparently no difficulty in feeding, no bleeding from the lesion, and no clear history regarding change in the size of the lesion. Physical examination revealed an otherwise healthy 6-week-old infant who was well developed, well nourished, and in no apparent distress. Intraoral examination revealed a pedunculated lesion, I em long, on the midline of the dorsum of the tongue, at the anterior aspect of the posterior third (Fig. I). The lesion appeared to have a normal mucosal covering, and it was freely movable. There was no blanching of the lesion on compression, and no lymphadenopathy was present. Results of the remainder of the physical examination was within normal limits, as were the results of all routine laboratory studies and the chest radiograph. The infant was admitted to the hospital for further diagnostic procedures and treatment of the lesion.

DIAGNOSIS OF CONGENITAL RENAL CYST IN THE NEWBORN. AN APPLICATION OF THE CONCEPT OF TOTAL-BODY OPACIFICATION.

The preoperative distinction between congenital renal cysts and malignant tumors in the newborn is often a difficult and important urographic problem. In the adult, the comparable situation has become significantly simplified with the advent and wide application of renal angiography and nephrotomography, both of which are impractical in the neonate. The nephrotomographic diagnosis of renal cysts in adults is based on the absolute avascularity of the renal mass in question in juxtaposition to opacified normal renal tissue. In 1963, O'Connor and Neuhauser (1) first applied the concept of total-body opacification to diagnostic radiology. They described this phenomenon in relation to conventional and high-dose urography in infancy. It was noted that in the course of intravenous urography in infants, particularly if a double dose (3–4 cc/kg) were given, the liver, spleen, bowel wall, heart, and virtually the entire blood vascular compartment opacified, enabling them to recognize the presence of relatively avascular areas. With this method, a cyst of the small bowel wall and a cavernous hemangioma of the liver with diffuse intratumoral thrombosis and hemorrhage were diagnosed. Following is the report of a case in which we were able to diagnose a congenital renal cyst in an infant preoperatively by applying this concept of total-body opacification. Case Report A one-day-old white female infant was transferred to The Long Island College Hospital from another because of a right abdominal mass present since birth. This had been found on routine postnatal physical examination. The patient was the product of a normal spontaneous delivery following an uneventful pregnancy. No other masses were noted. There was no significant family history of renal disease. Physical examination revealed an active female infant with no evidence of external anomaly. A slight subconjunctival hemorrhage was seen at the nasal aspect of the left bulbar conjunctiva. A visible bulge which moved with respiration was observed in the right abdomen. The mass was non-tender and nodular to palpation. The remainder of the physical findings were within normal limits. The working diagnosis on admission was Wilms's tumor. Roentgen Findings: On March 5, 1964, intravenous urography was performed, employing 10 cc of 50 per cent diatrizoate sodium. A scout film revealed a large mass occupying the entire right abdomen, displacing all visualized small bowel to the left. No calcifications were observed. The first injection, which was the equivalent of 2.5 cc/kg, failed to produce visualization of the right collecting system, despite delayed films taken after thirty minutes. Consequently, a second dose of 8 cc (total 4.5 cc/kg) was injected. This revealed a dilated collecting system with a markedly dilated and tortuous right ureter.