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Prenatal Ultrasonography

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https://www.readbyqxmd.com/read/29146704/prospective-evaluation-of-kidney-disease-in-joubert-syndrome
#1
Leah R Fleming, Daniel A Doherty, Melissa A Parisi, Ian A Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C Mullikin, May Christine Malicdan, Thierry Vilboux, John A Sayer, William A Gahl, Meral Gunay-Aygun
BACKGROUND AND OBJECTIVES: Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We evaluated 97 individuals with Joubert syndrome at the National Institutes of Health Clinical Center using abdominal ultrasonography, blood and urine chemistries, and DNA sequencing...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29135270/-effectiveness-of-prenatal-ultrasound-in-fetal-and-neonatal-malformations-and-examination-of-difficulty-and-uncertainty-factors
#2
Fanni Rebeka Erős, Artúr Beke
INTRODUCTION AND AIM: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations. METHOD: We have processed the prenatal sonographic and postnatal clinical details of 1867 inborn abnormalities in 1200 fetuses over a 7-year period. RESULTS: The mean maternal age upon delivery/abortion was 29.96 ± 5.88 years. In 671 cases, the pregnancy concluded in delivery with a mean gestational age of 35...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29110323/prenatal-diagnosis-and-prognosis-of-isolated-subependymal-cysts-a-retrospective-cohort-study
#3
Mengmeng Yang, Ying Jiang, Qinqing Chen, Min Lv, Qiong Luo
OBJECTIVE: To investigate the significance of prenatal diagnosis of subependymal cysts (SEC). Diagnoses were made by brain ultrasonography(bUS) and confirmed by fetal brain Magnetic Resonance Imaging (MRI). METHODS: We reviewed all the cases of isolated SEC diagnosed antenatally in our center from January 1(st) , 2014 to December 31(st) , 2015 and confirmed by fetal MRI. We followed up their evolution throughout pregnancy and the neonatal neurodevelopment at 3, 6 and 12 months using the Gesell Developmental Schedule (GDS)...
November 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29075046/a-novel-approach-to-prenatal-measurement-of-the-fetal-frontal-lobe-using-three-dimensional-sonography
#4
Steffen A Brown, Rebecca Hall, Lauren Hund, Hilda L Gutierrez, Timothy Hurley, Bradley D Holbrook, Ludmila N Bakhireva
OBJECTIVE: While prenatal 3D ultrasonography results in improved diagnostic accuracy, no data are available on biometric assessment of the fetal frontal lobe. This study was designed to assess feasibility of a standardized approach to biometric measurement of the fetal frontal lobe and to construct frontal lobe growth trajectories throughout gestation. STUDY DESIGN: A sonographic 3D volume set was obtained and measured in 101 patients between 16.1 and 33.7 gestational weeks...
March 2017: Journal of Reproductive Medicine
https://www.readbyqxmd.com/read/29039169/-prenatal-diagnosis-of-joubert-syndrome-one-case-report-and-literature-review
#5
Hong Wen, Lu Chen, Kai Yan, Jing He
A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed 'molar tooth sign' in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and c.4598T > C), which might be the cause of the disease.
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29039168/-maternal-serum-alpha-fetoprotein-and-free-%C3%AE-hcg-of-second-trimester-for-screening-of-fetal-gastroschisis-and-omphalocele
#6
Yiming Chen, Wen Zhang, Sha Lu, Jin Mei, Hao Wang, Shan Wang, Linyuan Gu, Lidan Zhang, Xuelian Chu
OBJECTIVE: To assess the detection of maternal serum alpha fetoprotein (MSAFP) and free beta-HCG levels of second trimester for screening of fetal gastroschisis and omphalocele. METHODS: Clinical data of 622 639 pregnant women from 5 prenatal screening centers in Hangzhou during October 2007 and September 2016 were analyzed retrospectively. Thirty cases of gastroschisis and 30 cases of omphalocele diagnosed by ultrasonography and postmortem findings were enrolled in the study and 116 cases of pregnant women with normal fetal development during the same period were selected as control group...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29023778/the-importance-of-prenatal-3-dimensional-sonography-in-a-case-of-a-segmental-overgrowth-syndrome-with-unclear-chromosomal-microarray-results
#7
Mehmet Resit Asoglu, Amanda Higgs, Sertac Esin, Julie Kaplan, Sifa Turan
PIK3CA-related overgrowth spectrum, caused by mosaic mutations in the PIK3CA gene, is associated with regional or generalized asymmetric overgrowth of the body or a body part in addition to other clinical findings. Three-dimensional ultrasonography (3-D US) has the capability to display structural abnormalities in soft tissues or other organs, thereby facilitating identification of segmental overgrowth lesions. We present a case suspected of having a segmental overgrowth disorder based on 3-D US, whose chromosomal microarray result was abnormal, but apparently was not the cause of the majority of the fetus's clinical features...
October 12, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/29019762/central-nervous-system-effects-of-intrauterine-zika-virus-infection-a-pictorial-review
#8
Bianca Guedes Ribeiro, Heron Werner, Flávia P P L Lopes, L Celso Hygino da Cruz, Tatiana M Fazecas, Pedro A N Daltro, Renata A Nogueira
Relatively few agents have been associated with congenital infections involving the brain. One such agent is the Zika virus, which has caused several outbreaks worldwide and has spread in the Americas since 2015. The Zika virus is an arbovirus transmitted by infected female mosquito vectors, such as the Aedes aegypti mosquito. This virus has been commonly associated with congenital infections of the central nervous system and has greatly increased the rates of microcephaly. Ultrasonography (US) remains the method of choice for fetal evaluation of congenital Zika virus infection...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28994140/fetal-lung-volume-and-pulmonary-artery-changes-in-congenital-heart-disease-with-decreased-pulmonary-blood-flow-quantitative-ultrasound-analysis
#9
Yong Guo, Xiaowei Liu, Xiaoyan Gu, Ye Zhang, Lin Sun, Yihua He
BACKGROUND: It has been reported that congenital heart disease with decreased pulmonary blood flow (CHD-DPBF) may affect postnatal lung morphogenesis and function. However, there has been a lack of information regarding the impact of CHD-DPBF on prenatal fetal lung development. METHODS: Fifty-four fetuses with CHD-DPBF were compared with 110 controls. Fetal lung volume (FLV) was estimated using three-dimensional ultrasonography (3D-US). Estimated fetal weight (EFW) and McGoon index (MGI) were estimated using two-dimensional ultrasonography (2D-US)...
October 10, 2017: Echocardiography
https://www.readbyqxmd.com/read/28982294/the-effect-of-prenatal-alcohol-exposure-on-fetal-growth-and-cardiovascular-parameters-in-a-baboon-model-of-pregnancy
#10
Ana M Tobiasz, Jose R Duncan, Zoran Bursac, Ryan D Sullivan, Danielle L Tate, Alex M Dopico, Anna N Bukiya, Giancarlo Mari
Prenatal alcohol exposure often results in an array of fetal developmental abnormalities termed fetal alcohol spectrum disorders (FASDs). Despite the high prevalence of FASDs, the pathophysiology of fetal damage by alcohol remains poorly understood. One of the major obstacles in studying fetal development in response to alcohol exposure is the inability to standardize the amount, pattern of alcohol consumption, and peak blood alcohol levels in pregnant mothers. In the present study, we used Doppler ultrasonography to assess fetal growth and cardiovascular parameters in response to alcohol exposure in pregnant baboons...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28981939/-genetic-diagnosis-and-follow-up-of-a-fetus-with-emanuel-syndrome
#11
Yanhui Zhao, Hong Pang, Ming Gao, Xiaojing Feng, Yunping Guan, Hua Zhao, Dan Tong, Jun Hua, Xia Cao, Shaosong He, Jesse Li-Ling
OBJECTIVE: To carry out genetic analysis for a fetus with Dandy-Walker malformation and provide prenatal diagnosis for its parents during the subsequent pregnancy. METHODS: Routine G-banding was carried out to analyze the karyotype of the fetus and its parents, and next-generation sequencing (NGS) and fluorescence in situ hybridization (FISH) were used to verify the result. RESULTS: The father showed a normal karyotype, while the mother was found to carry a balanced t(11; 22) (q23; q11) translocation...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28976907/prenatal-diagnosis-of-clubfoot-a-review-of-current-available-methodology
#12
REVIEW
Cesare Faldini, Domenico Fenga, Ilaria Sanzarello, Matteo Nanni, Francesco Traina, Michele Attilio A Rosa
BACKGROUND: Clubfoot is one of the most common congenital limb deformities. Prenatal diagnosis of the condition is essential as it can help treat the malformation as early as possible. We reviewed the recent available literature concerning the current methods for prenatal diagnosis of clubfoot. METHODS: The following databases were searched from 1966 to 2015: PubMed, OVID, Cochrane, CINAHL, Google scholar and Embase. RESULTS: Out of a total number of 197 retrieved articles, after abstract or title page evaluation, 158 articles not matching the inclusion criteria were excluded...
September 1, 2017: Folia Medica
https://www.readbyqxmd.com/read/28965152/high-incidence-of-progressive-stenosis-in-aberrant-left-subclavian-artery-with-right-aortic-arch
#13
Mamoru Muraoka, Hazumu Nagata, Yuichiro Hirata, Kiyoshi Uike, Eiko Terashi, Eiji Morihana, Masayuki Ochiai, Yasuyuki Fujita, Kiyoko Kato, Kenichiro Yamamura, Shouichi Ohga
Right aortic arch with aberrant left subclavian artery (RAA/aLSCA) is a rare aortic arch anomaly. The clinical association of aLSCA stenosis with RAA/aLSCA has not yet been fully elucidated. The aim of this study was to investigate the diagnosis, incidence, management and outcome of aLSCA stenosis in infants with prenatally diagnosed RAA/aLSCA. Ten fetuses who were diagnosed as having RAA/aLSCA in Kyushu University Hospital between January 2011 and December 2014 were enrolled. The maternal and child medical records were reviewed to investigate sex, gestational age at the fetal diagnosis, gestational age and body weight at birth, the findings of computed tomography (CT), Doppler ultrasonography of the vertebral artery and angiography, and the complications and outcomes of aLSCA stenosis...
September 30, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28960390/prenatal-bowel-findings-in-male-siblings-with-a-confirmed-foxp3-mutation
#14
Catherine Griswold, Allison R Durica, Larry G Dennis, Ann F Jewell
There are multiple etiologies for fetal dilated bowel loops on ultrasonography (US), and we present a unique case of male siblings with a forkhead box P3 (FOXP3) mutation. Both children presented with fetal bowel anomalies on prenatal US. Family histories of cystic fibrosis and immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome were reported. Amniocentesis in both pregnancies identified a normal male karyotype and the familial mutation associated with IPEX syndrome. IPEX syndrome is one of a group of conditions known as congenital diarrhea disorders...
September 29, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28940600/chromosomal-aneuploidies-and-copy-number-variations-in-posterior-fossa-abnormalities-diagnosed-by-prenatal-ultrasonography
#15
Ting Lei, Jie-Ling Feng, Ying-Jun Xie, Hong-Ning Xie, Ju Zheng, Mei-Fang Lin
OBJECTIVE: To explore the genetic aetiology of fetal 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 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
#16
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
#17
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
#18
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...
October 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
#19
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
#20
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)
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