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Prenatal ultrasound

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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
#1
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/28925570/first-trimester-screening-based-on-ultrasound-and-cfdna-vs-first-trimester-combined-screening-a-randomized-controlled-study
#2
Karl Oliver Kagan, Fabrina Sroka, Jiri Sonek, Harald Abele, Kai Lüthgens, Maximilian Schmid, Philipp Wagner, Sara Brucker, Diethelm Wallwiener, Markus Hoopmann
OBJECTIVE: Prospective randomized trial to compare the performance of first trimester combined screening (FTCS) with an approach that uses the combination of a detailed ultrasound examination and cfDNA analysis. METHODS: Pregnant women with a normal first-trimester ultrasound examination at 11 to 13 weeks' gestation (fetal NT ≤3.5 mm and no fetal defects) were randomized into two groups. In the first group, the risk of aneuploidy was assessed using FTCS based on the most recent FMF UK algorithm...
September 19, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28921932/fetal-mri-compared-to-ultrasound-for-the-diagnosis-of-obstructive-genital-malformations
#3
Anne Elodie Millischer, David Grevent, Véronique Rousseau, Neil O'Gorman, Pascale Sonigo, Bettina Bessieres, Yves Ville, Nathalie Boddaert, Laurent J Salomon
OBJECTIVE: To compare the accuracy of Magnetic Resonance Imaging (MRI) and ultrasound (US) to diagnose and characterize congenital obstructive genital abnormalities. METHOD: Retrospective cohort of 20 fetuses who underwent a fetal MRI following an ultrasound diagnosis of obstructive urogenital malformation. We compared MRI and US findings and their correlation with the definitive diagnosis. RESULT: The correct diagnosis was obtained in 6/20 (30%) cases and 19/20 cases (95%) with US and MRI respectively...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#4
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28915119/cytogenetic-analysis-in-fetuses-with-late-onset-abnormal-sonographic-findings
#5
Ron Bardin, Eran Hadar, Lylach Haizler-Cohen, Rinat Gabbay-Benziv, Israel Meizner, Sarit Kahana, Josepha Yeshaya, Shiri Yacobson, Lital Cohen-Vig, Ifaat Agmon-Fishman, Lina Basel-Vanagaite, Idit Maya
OBJECTIVE: To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings. DESIGN: Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings. RESULTS: All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed...
September 15, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28906394/growth-discordance-of-monoamniotic-twin-because-of-difference-of-cords-diameter-in-forked-umbilical-cord-case-report
#6
Yongbing Guo, Yu Sun, Huixia Yang
A case of monochorionic-monoamniotic (MCMA) twin pregnancy with growth discordance because of difference of cord diameter in forked umbilical cord is reported.MCMA twins were diagnosed at 12 weeks of gestation and twin growth discordance was considered during the follow-up twice-weekly visits to the ultrasound and prenatal care units. The pregnancy was terminated at 34 weeks. Two live female babies weighing 2510 g and 1940 g were delivered. Examination of placenta and umbilical cords after birth showed that the 2 cords merged into a conjoint cord 1 cm from insertion to the placenta (forked umbilical cord)...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28905199/early-prenatal-diagnosis-of-a-lumbo-costo-vertebral-syndrome
#7
Anda Ioana Pristavu, Cristina Furnica, Mona Mihaela Ifrim, Razvan Mihai Popovici
Lumbo-costo-vertebral syndrome (LCVS) is a rare type of lumbar hernia with associated abnormalities of the vertebral bodies, ribs, and trunk muscles. Only a few cases have been reported in the literature, all of which were diagnosed after birth. We present a case of LCVS diagnosed early in the second trimester of pregnancy using two- and three-dimensional ultrasound. In our case, the associated anomalies were: multiple costovertebral anomalies, lumbar hernia, anal imperforation, left hand supernumerary digit, and clubfoot...
September 13, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28904928/prenatal-sonographic-diagnosis-of-hypoplastic-left-heart-syndrome
#8
Raghu Teja Sadineni, B Santh Kumar, N B Chander, Durga Mahita Boppana
Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. HLHS includes a wide spectrum of cardiac malformations including hypoplasia of the left ventricle, ascending aorta, hypoplasia, or atresia of the aortic and mitral valves. Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assessment of fetal anomalies have helped in understanding the spectrum and have expanded our knowledge of HLHS...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28904658/prenatal-diagnosis-of-caudal-regression-syndrome-and-omphalocele-in-a-fetus-of-a-diabetic-mother
#9
Haifa Bouchahda, Houda El Mhabrech, Hechmi Ben Hamouda, Sobhi Ghanmi, Rim Bouchahda, Habib Soua
The caudal regression syndrome is defined as total or partial agenesis of the sacrum and lumbar spine, frequently associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…). Prenatal diagnosis is possible through fetal ultrasound (US) and magnetic resonance imaging (MRI). A case of fetal caudal regression syndrome with omphalocele from a diabetic mother is presented, demonstrating the sonographic, MRI, CT and X-Ray features diagnostic. We will also discuss neonatal findings, risk factors and prognosis of this condition...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28898950/patal-bisphenol-a-exposure-affects-fetal-length-growth-by-maternal-glutathione-transferase-polymorphisms-and-neonatal-exposure-affects-child-volume-growth-by-sex-from-multiregional-prospective-birth-cohort-moceh-study
#10
Yu Min Lee, Yun-Chul Hong, Mina Ha, Yangho Kim, Hyesook Park, Hae Soon Kim, Eun-Hee Ha
We aimed to evaluate the effects of Bisphenol-A (BPA) exposure on fetal/child growth from the fetal period to 72months after birth. The MOCEH study is a prospective birth cohort study in Korea. A total of 788 mother-child pairs in the third trimester and 366 pairs in the neonatal period who completed BPA assessment and fetal/children growth outcomes were included. BPA assessments were conducted twice in the third trimester using maternal urines and the neonatal period using neonatal urines. Fetal femur length was measured with ultrasound, and estimated-fetal-weight was calculated...
September 8, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28892214/parental-decisions-following-prenatal-diagnosis-of-sex-chromosome-aneuploidy-in-hong-kong
#11
Po Lam So, Kwun Yue Yvonne Cheng, Kwan Yiu Cheuk, Wan Kam Chiu, Shui Lam Mak, Sau Lan Mok, Tsz Kin Lo, Wai Kuen Yung, Fai Man Lo, Hon Yin Brian Chung, Sik Yau Anita Kan, Chin Peng Lee, Hoi Yin Mary Tang
AIM: According to the published work, pregnancy termination rates due to prenatal diagnosis of fetal sex chromosome aneuploidies (SCA) vary widely. Some potentially modifiable and non-modifiable factors have been reported to be associated with parental decision. This study aimed to evaluate the rate of pregnancy termination for fetal SCA and the factors influencing parents' decisions in Hong Kong. METHODS: This was a 21-year retrospective cohort study of parents' decisions following prenatal diagnosis of SCA...
September 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28890277/-prenatal-diagnosis-of-abdominal-wall-defects
#12
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/28887622/non-invasive-prenatal-testing-nipt-europe-s-first-multicenter-post-market-clinical-follow-up-study-validating-the-quality-in-clinical-routine
#13
Anne Flöck, Ngoc-Chi Tu, Anna Rüland, Wolfgang Holzgreve, Ulrich Gembruch, Annegret Geipel
PURPOSE: Non-invasive prenatal tests (NIPT) for the determination of fetal aneuploidies from maternal blood are firmly established in clinical routine. For the first time, the accuracy of an NIPT for the determination of trisomies 21, 18 and 13 in singleton pregnancies was assessed by means of a prospective German-wide multicenter post-market clinical follow-up study, to reliably evaluate the quality in clinical routine. METHODS: The study covered the indications for testing, the test results, the rate of invasive diagnostics and the pregnancy outcome...
September 8, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28886226/a-systematic-review-and-meta-analysis-on-fetal-ovarian-cysts-impact-of-size-appearance-and-prenatal-aspiration
#14
REVIEW
Athanasios Tyraskis, Spyros Bakalis, Anna L David, Simon Eaton, Paolo De Coppi
OBJECTIVE: To compare outcomes of ultrasound-guided aspiration of fetal ovarian cysts with conservative management. METHOD: A systematic review of MEDLINE and Web of Science included studies reporting outcomes (pre- and post-natal torsion, spontaneous resolution, and surgery) of fetuses with ovarian cysts. Subgroup analysis was performed according to cyst diameter at diagnosis and cysts ≥ 40mm. RESULTS: 92 non-randomized studies reported on 380 cysts (324 observed, 56 aspirated in-utero) in 365 fetuses...
September 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28885096/infant-hydrocephalus-in-sub-saharan-africa-the-reality-on-the-tanzanian-side-of-the-lake
#15
Maria M Santos, Derick K Rubagumya, Imani Dominic, Amos Brighton, Soledad Colombe, Philip O'Donnell, Micaella R Zubkov, Roger Härtl
OBJECTIVE Infant hydrocephalus is estimated to affect more than 100,000 new infants each year in sub-Saharan Africa (SSA). Bugando Medical Centre (BMC), a government-funded and patient cost-shared referral center, serves over 13 million people in the Lake and Western regions of Tanzania. The goals of this study were to characterize the infant population affected by hydrocephalus who presented to BMC and were treated with a ventriculoperitoneal shunt (VPS) to determine the rate of early complications associated with this surgical procedure and to assess its potential risk factors...
September 8, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28884206/neonatal-congenital-lung-tumors-the-importance-of-mid-second-trimester-ultrasound-as-a-diagnostic-clue
#16
Stephan L Waelti, Laurent Garel, Dorothée Dal Soglio, Françoise Rypens, Michael Messerli, Josée Dubois
BACKGROUND: The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. OBJECTIVE: The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors...
September 7, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28882078/detection-of-fetal-duplication-16p11-2q12-1-by-next-generation-sequencing-of-maternal-plasma-and-invasive-diagnosis
#17
Min Chen, Xiao-Ying Fu, Yu-Qin Luo, Ye-Qing Qian, Ling Pan, Li-Ya Wang, Min-Yue Dong
OBJECTIVE: The objective of study is to report the feasibility of non-invasive prenatal screening (NIPS) combined with invasive detection by chromosomal analysis in identifying fetal duplication, providing clinical performance of NIPS on copy number variations (CNVs) detection. MATERIAL AND METHODS: NIPS was offered to a 35-year-old pregnant woman. Amniocentesis was performed to confirm the positive screening result. Fetal sample was detected by karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA)...
September 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28881510/-clinical-phenotypes-of-hepatocyte-nuclear-factor-1-homeobox-b-associated-disease
#18
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/28880692/clinical-outcome-of-pregnancies-with-the-prenatal-double-bubble-sign-a-five-year-experience-from-one-single-centre-in-mainland-china
#19
Yu Yang, Ping He, Dong-Zhi Li
The aim of this study was to describe the risk of aneuploidy, associated structural anomalies and clinical outcome in pregnancies with the prenatal double bubble sign. A retrospective study on ultrasound reports and pregnancy outcomes was performed in 71 foetuses with double bubble sign, who were examined at the Guangzhou Women and Children Medical Center during a five-year period. Forty-nine patients had the regular prenatal care since first trimester; of these, 20 had the sonographic sign before 24 weeks and the remaining 29 had the sonographic diagnosis after 24 weeks...
September 7, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28873375/non-invasive-prenatal-testing-for-sex-chromosome-aneuploidy-in-routine-clinical-practice
#20
Louise Kornman, Ricardo Palma-Dias, Debbie Nisbet, Fergus Scott, Melody Menezes, Fabricio da Silva Costa, Andrew McLennan
OBJECTIVES: To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and sonographic issues arising in SCA cases. METHODS: Three specialist Australian obstetric ultrasound and prenatal diagnosis practices offering NIPT after 10 weeks' gestation participated in this study. NIPT was reported for chromosomes 21, 18, 13, X, and Y. RESULTS: NIPT screening was performed in 5,267 singleton pregnancies...
September 6, 2017: Fetal Diagnosis and Therapy
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