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Prenatal Ultrasonography

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https://www.readbyqxmd.com/read/28940600/chromosomal-aneuploidies-and-copy-number-variations-in-posterior-fossa-abnormalities-diagnosed-by-prenatal-ultrasonography
#1
Ting Lei, Jie-Ling Feng, Ying-Jun Xie, Hong-Ning Xie, Ju Zheng, And Mei-Fang Lin
OBJECTIVE: To explore the genetic aetiology of foetal posterior fossa abnormalities (PFAs). METHODS: This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. RESULTS: Among 74 cases included in this study, 8 were of of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia...
September 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28931040/newborn-skin-reflection-proof-of-concept-for-a-new-approach-for-predicting-gestational-age-at-birth-a-cross-sectional-study
#2
Zilma Silveira Nogueira Reis, Gabriela Luiza Nogueira Vitral, Ingrid Michelle Fonseca de Souza, Maria Albertina Santiago Rego, Rodney Nascimento Guimaraes
BACKGROUND: Current methods to assess the gestational age during prenatal care or at birth are a global challenge. Disadvantages, such as low accessibility, high costs, and imprecision of clinical tests and ultrasonography measurements, may compromise health decisions at birth, based on the gestational age. Newborns' organs and tissues can indirectly indicate their physical maturity, and we hypothesized that evolutionary changes in their skin, detected using an optoelectronic device meter, may aid in estimating the gestational age...
2017: PloS One
https://www.readbyqxmd.com/read/28926319/case-246-mr-imaging-of-a-complex-cystic-mass-in-a-newborn-girl
#3
Aditi Shruti, George S Wu
History A 6-day-old female neonate presented to the outpatient pediatric surgery clinic for evaluation of a possible prenatal abdominal mass. The neonate was delivered at term via cesarean section due to macrosomia, with a reported birth weight of 11 lb 8.7 oz (5.23 kg). The patient's postnatal course was remarkable for resolving neonatal hyperbilirubinemia. A physical examination was remarkable for a palpable mass in the abdomen. Maternal risk factors included class II obesity, type 2 diabetes, and metabolic syndrome...
October 2017: Radiology
https://www.readbyqxmd.com/read/28890277/-prenatal-diagnosis-of-abdominal-wall-defects
#4
H El Mhabrech, H Ben Hmida, H Charfi, A Zrig, C Hafsa
Anterior abdominal wall defects (AAWD) correspond to a wide spectrum of congenital defects affecting 6.3/10,000 pregnancies. They have in common a closure defect of the anterior abdominal wall and can be fatal or expose the fetus and the neonate (NN) to many complications. This study was based on a retrospective study of 22 cases of AAWD collected between May 2009 and December 2014. Its purpose was to specify the importance of prenatal ultrasonography in the diagnosis and prognosis assessment of these defects...
September 7, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28881510/-clinical-phenotypes-of-hepatocyte-nuclear-factor-1-homeobox-b-associated-disease
#5
F Wang, Y Yao, H X Yang, C Y Shi, X X Zhang, H J Xiao, H W Zhang, B G Su, Y Q Zhang, J F Guo, J Ding
Objective: Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder. Method: Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28858090/prenatal-ultrasonic-diagnosis-of-absent-pulmonary-valve-syndrome-a-case-report
#6
Wen-Jun Zhang, Zhong-Lei Zhang, Jun-Jie Chang, Xiao-Yu Song
RATIONALE: Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS associated with TOF diagnosed via fetal echocardiography and discuss their specific ultrasonographic characteristics. PATIENT CONCERNS: Two pregnant women with suspicion of fetal heart anomaly were referred from their local hospitals to our hospital for fetal malformation screening and detailed fetal echocardiography...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28841576/diagnostic-value-of-perinatal-autopsies-analysis-of-486-cases
#7
Nalan Neşe, Yeşim Bülbül
AIM: Autopsy is a beneficial procedure to determine the cause of death and the frequency of anomalies in perinatal losses. Even in the event of an autopsy not providing any additional information, completion of the procedure confirming the clinical diagnoses gives reassurance to both clinicians and parents. Here we present a 15-year archival study based on findings of perinatal autopsies. DESIGN AND METHODS: Four hundred and eighty-six cases from our archive were reviewed and according to the findings they were divided into three subcategories; (1) miscarriages (MCF); (2) fetuses terminated (FTA) for vital anomalies detected by prenatal ultrasonography; (3) premature or term newborns died within first month of life (neonates: NN)...
August 25, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28826258/fetal-intracranial-hemorrhage-prenatal-diagnosis-and-postnatal-outcomes
#8
Begoña Adiego, Pilar Martínez-Ten, Carmina Bermejo, María Estévez, Manuel Recio Rodriguez, Tamara Illescas
OBJECTIVE: To present our experience with 14 cases of fetal intracranial hemorrhage (ICH). METHODS: Cases of fetal ICH detected in our institution between 2005 and 2016 by ultrasonography. Maternal characteristics, ultrasound and MRI findings, and postnatal outcome were noted. RESULTS: Twelve cases (86.7%) were identified during a third trimester routine scan at a median gestational age of 30.6 weeks. The ICH was classified as Grade 2 in two cases, Grade 3 in three cases and Grade 4 in nine cases...
August 21, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28799037/three-dimensional-hdlive-imaging-of-an-umbilical-cord-cyst
#9
Eisuke Inubashiri, Naomi Nishiyama, Sayuri Tatedo, Hiina Minami, Atushi Saitou, Yukio Watanabe, Masaki Sugawara
Umbilical cord cysts (UCC) are a rare congenital malformation. Previous reports have suggested that the second- and third-trimester UCC may be associated with other structural anomalies or chromosomal abnormalities. Therefore, high-quality imaging is clinically important for the antenatal diagnosis of UCC and to conduct a precise anatomical survey of intrauterine abnormalities. There have been few reports of antenatal diagnosis of UCC with the conventional two- and three-dimensional ultrasonography. In this report, we demonstrate the novel visual depiction of UCC in utero with three-dimensional HDlive imaging, which helps substantially with prenatal diagnosis...
August 10, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28770129/pentalogy-of-cantrell-prenatal-diagnosis-delivery-and-immediate-postnatal-surgical-repair
#10
Edward Araujo Júnior, Milene Carvalho Carrilho, Bruno Rodrigues Toneto, José Cícero Stocco Guilhen
Pentalogy of Cantrell (PC) is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease. It is a very rare congenital anomaly and the prenatal diagnosis is possible in the beginning of second trimester of pregnancy using the conventional ultrasonography. The prognosis is poor with high rates of perinatal mortality. We present a case report of prenatal diagnosis of PC at 22 weeks and 3 days of gestation. We emphasize the prenatal care follow up in a tertiary reference center, the parental counseling, the planning of delivery, and the management of newborn by a multidisciplinary team, including the description of immediate postnatal surgical repair...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28747615/isolated-congenital-megacystis-with-spontaneous-resolution-a-case-report
#11
Toshihiko Nakamura
The patient was a male infant with an antenatal diagnosis of huge intraabdominal mass. Prenatal ultrasound at 35 weeks gestation revealed a markedly enlarged cystic mass in the lower abdomen. After birth at 38 weeks, the infant was allowed to void spontaneously and passed meconium. Ultrasonography showed an enlarged bladder with wall thickness of 2.9 mm and no hydronephrosis. Voiding cystourethrograms showed no evidence of vesicoureteral reflex and posterior urethral valve. The post-void residuals were 15 mL at 11 days of life, 5 mL at 1 month and 0 mL at 5 months...
August 9, 2017: Fukushima Journal of Medical Science
https://www.readbyqxmd.com/read/28728536/postnatal-delayed-exacerbation-of-dural-sinus-malformation-associated-with-brainstem-cavernous-malformations-a-case-report
#12
Katsuhiro Mizutani, Tomoru Miwa, Takenori Akiyama, Tokunori Kanazawa, Hideaki Nagashima, Kei Miyakoshi, Yasunari Niimi, Kazunari Yoshida
Dural sinus malformation (DSM) is a rare paediatric vascular malformation characterised by abnormal dilation of the posterior dural sinus. Owing to its rarity, the pathophysiology of DSM has not been fully elucidated. We report a case of prenatally diagnosed DSM with an unusual clinical course. We detected DSM in a male foetus in the 26th week of gestation by using foetal ultrasonography. Although the DSM regressed during the foetal stage and the arteriovenous shunt was insignificant in the neonate, the shunt rapidly developed four months after birth...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28700500/formation-of-the-calcarine-sulcus-a-potential-marker-to-predict-the-progression-in-utero-of-isolated-mild-fetal-ventriculomegaly
#13
Hehong Li, Guangjian Liu, Fangqin Lin, Huiying Liang
Our previous study confirmed the negative association between the development of calcarine sulcus and the width of lateral ventricles. The purpose of current study was to evaluate the reliability of calcarine sulcus depth in the 2nd trimester to predict the prenatal enlargement of lateral ventricle in fetuses with isolated mild fetal ventriculomegaly (IMVM).This study used a retrospective cohort study design. A total of 97 pregnant women with IMVM diagnosed between 20 and 26 weeks' gestation returned for a 2nd examination at 30 to 32 weeks...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28675887/prenatal-imaging-findings-of-pontine-tegmental-cap-dysplasia-report-of-four-cases
#14
Eléonore Blondiaux, Stéphanie Valence, Stéphanie Friszer, Diana Rodriguez, Lydie Burglen, Hubert Ducou le Pointe, Marie Blouet, Catherine Garel
OBJECTIVES: To describe the prenatal imaging findings in pontine tegmental cap dysplasia (PTCD), a rare congenital malformation of the hindbrain so far reported postnatally only and characterized by a typical appearance of the pons with malformations of the vermis and the cerebellar peduncles. METHODS: This retrospective multicenter study retrieved 4 cases of PTCD over a 10-year period. Prenatal ultrasonography and fetal magnetic resonance imaging (MRI) findings were reviewed and compared to postnatal or postmortem data...
July 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28646130/congenital-chloride-diarrhea-ccd-a-case-report-of-ccd-suspected-by-prenatal-ultrasonography-and-magnetic-resonance-imaging-mri
#15
Takakazu Kawamura, Tomizou Nishiguchi
BACKGROUND Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder that is difficult to distinguish from fetal lower intestinal obstruction. A prenatal diagnosis will make a contribution to the prognosis of the newborn. CASE REPORT We report a rare case of congenital chloride diarrhea (CCD) prenatally suspected by ultrasound and MRI. The prenatal ultrasound revealed signs of intestinal dilatation suggesting lower intestinal obstruction. MRI findings also revealed intestinal dilatation that continued from the rectum...
June 24, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28645698/radiological-studies-of-fetal-alcohol-spectrum-disorders-in-humans-and-animal-models-an-updated-comprehensive-review
#16
REVIEW
Van T Nguyen, Suyinn Chong, Quang M Tieng, Karine Mardon, Graham J Galloway, Nyoman D Kurniawan
Fetal Alcohol Spectrum Disorders encompass a wide range of birth defects in children born to mothers who consumed alcohol during pregnancy. Typical mental impairments in FASD include difficulties in life adaptation and learning and memory, deficits in attention, visuospatial skills, language and speech disabilities, mood disorders and motor disabilities. Multimodal imaging methods have enabled in vivo studies of the teratogenic effects of alcohol on the central nervous system, giving more insight into the FASD phenotype...
June 20, 2017: Magnetic Resonance Imaging
https://www.readbyqxmd.com/read/28642639/foregut-duplication-cysts-in-children
#17
Keshawadhana Balakrishnan, Frances Fonacier, Shilpa Sood, Natasha Bamji, Howard Bostwick, Gustavo Stringel
BACKGROUND AND OBJECTIVES: Duplications of the alimentary tract are rare anomalies. We report our experience with foregut duplication cysts including their clinical presentation, diagnostic modalities, and surgical management. METHODS: We report a 20-year retrospective review of all foregut duplication cysts managed at our institution. RESULTS: Twelve patients with 13 foregut duplication cysts were identified. The ages of the children at the time of surgery ranged from infancy to adolescence, with a mean age of 7...
April 2017: JSLS: Journal of the Society of Laparoendoscopic Surgeons
https://www.readbyqxmd.com/read/28604946/-application-of-chromosomal-microarray-analysis-in-prenatal-diagnosis-for-fetal-abnormalities-detected-by-ultrasonography
#18
Ting Hu, Jiamin Wang, Zhu Zhang, Hongmei Zhu, Hongqian Liu, Xuemei Zhang, Haixia Zhang, Ze Du, Lingping Li, He Wang, Shanling Liu
OBJECTIVE: To analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography. METHODS: Amniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software. RESULTS: Among the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by CMA...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28600047/maternal-outcome-after-conservative-management-of-abnormally-invasive-placenta
#19
Hsiu-Wei Su, Yu-Chiao Yi, Jenn-Jhy Tseng, Wei-Chih Chen, Ya-Fang Chen, Hsiao-Fan Kung, Min-Min Chou
OBJECTIVE: The purpose of this study was to describe our preliminary experience of the efficacy and safety of a conservative strategy for abnormally invasive placenta. MATERIALS AND METHODS: A retrospective review of eight pregnant women with abnormally invasive placenta (one with placenta previa accrete, three with placenta previa increta, and four with previa percreta) was performed. The diagnosis was made by prenatal ultrasonography, and was confirmed by operative and histopathological findings...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28600017/comparison-of-prenatal-and-postnatal-management-of-patients-with-myelomeningocele
#20
REVIEW
Sergio Cavalheiro, Marcos Devanir Silva da Costa, Antonio Fernandes Moron, Jeffrey Leonard
Myelomeningocele (MMC) is a costly lifetime disease with many comorbidities, including sensory and motor lower limb disability, bladder/bowel dysfunction, scoliosis, club foot, and hydrocephalus. MMC treatment options have changed over time because routine use of fetal ultrasonography and MRI has provided prenatal diagnosis and the potential for fetal surgery. There is still no consensus on how to treat the MMC diagnoses prenatally, mainly related to the infrastructure required to operate on pregnant patients...
July 2017: Neurosurgery Clinics of North America
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