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Ultrasound fetal medicine

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https://www.readbyqxmd.com/read/28425981/whole-exome-sequencing-on-deceased-fetuses-with-ultrasound-anomalies-expanding-our-knowledge-of-genetic-disease-during-fetal-development
#1
Carin L Yates, Kristin G Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola
PurposeThe aim of this study was to determine the diagnostic yield of whole-exome sequencing (WES) in fetuses with ultrasound anomalies that resulted in fetal demise or pregnancy termination. The results were also utilized to aid in the identification of candidate genes for fetal development and to expand the clinical phenotype of known genetic conditions.MethodsWES was performed on specimens from 84 deceased fetuses. Data were analyzed and final results were classified into one of four categories: positive, possible, negative, and candidate gene only...
April 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28412669/measurement-of-frontal-lobe-volume-and-thalamic-volume-in-fetuses-with-congenital-heart-disease-at-different-gestational-weeks-using-three-dimensional-ultra-sonography-and-its-clinical-value
#2
Zhu Li-Fei, Liu Hong-Xiong, H E Ying
Our study aimed to investigate the measurement of frontal lobe volume and thalamic volume in fetuses with congenital heart disease (CHD) at different gestational weeks using three dimensional (3-D) ultrasonography and its clinical value. Then, 238 pregnant women who received obstetric ultrasonography in ultrasound department of Internal Medicine of our hospital were enrolled between March 2013 to April 2014. In this study, 85 fetuses were diagnosed to develop CHD by prenatal fetal echocardiography, and the other 153 fetuses were normal...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28401605/prediction-of-delivering-a-small-for-gestational-age-infant-and-adverse-perinatal-outcome-in-women-with-suspected-pre-eclampsia
#3
Melanie Griffin, Paul T Seed, Suzy Duckworth, Robyn North, Jenny Myers, Lucy Mackillop, Nigel Simpson, Jason Waugh, Maternal Medicine, Dilly Anumba, Louise C Kenny, Christopher W G Redman, Andrew H Shennan, Lucy C Chappell
OBJECTIVE: To evaluate the test performance of 47 biomarkers and ultrasound parameters to predict subsequent delivery of an SGA infant and adverse perinatal outcome in women presenting with suspected preeclampsia. METHODS: In a prospective, multicentre observational study, 47 biomarkers and ultrasound parameters were measured in 397 women presenting with suspected preterm preeclampsia, with the objective of evaluating them as predictors of subsequent delivery of an SGA infant and adverse perinatal outcome...
April 12, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28399525/prognosis-of-isolated-first-trimester-fetal-megacystis-with-spontaneous-resolution
#4
Noémie Girard, Benjamin Viaris de Lesegno, Paul Bussière, Catherine Egoroff, Anne-Gaël Cordier, Alexandra Benachi
OBJECTIVE: Fetal megacystis has a poor prognosis. During the first trimester, it is frequently associated with chromosomal abnormalities or multiple malformations, but can also be isolated and resolve spontaneously. In this study, our main objective was to determine the fetal and pediatric prognosis in this particular situation. METHODS: This was a retrospective multicenter study. We describe the cases referred to our fetal medicine centers and also cases previously reported in the international literature...
April 12, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28357616/prenatal-screening-for-chromosomal-abnormalities-in-ivf-patients-that-opted-for-preimplantation-genetic-screening-diagnosis-pgs-d-a-need-for-revised-algorithms-in-the-era-of-personalized-medicine
#5
Afua Takyi, Joaquin Santolaya-Forgas
Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients...
March 29, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28349892/impact-of-antepartum-diagnostic-amnioinfusion-on-targeted-ultrasound-imaging-of-pregnancies-presenting-with-severe-oligo-and-anhydramnios-an-analysis-of-61-cases
#6
Seneesh Kumar Vikraman, Vipin Chandra, Bijoy Balakrishnan, Meenu Batra, Sreeja Parameswaran, Swapneel Neelkanth Patil, Sabila Nair, Gopinathan Kannoly
OBJECTIVES: The primary objective our study was to assess the role of diagnostic antepartum amnioinfusion on the yield from targeted ultrasounds performed in pregnancies with severe oligo- and anhydramnios. STUDY DESIGN: This was a retrospective and descriptive study, conducted in the fetal medicine units of two private tertiary care referral centers in south India. The details of all the cases of diagnostic amnioinfusion performed at these two centers from January 2009 to June 2016 were collected and analyzed...
March 20, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28345186/use-of-the-fetal-myocardial-performance-index-in-assessment-and-management-of-the-small-for-gestational-age-fetus-a-cohort-and-nested-case-control-study
#7
Amanda Henry, Jennifer Alphonse, Dominique Tynan, Alec W Welsh
OBJECTIVES: To assess the clinical utility of the fetal Myocardial Performance Index (MPI) in assessment and management of the fetus referred to Fetal Medicine services for Small for Gestational Age/Intrauterine Growth Restriction (SGA/IUGR). METHODS: Prospective cohort study in metropolitan Australia. Consenting patients referred at 24-38 weeks' gestation for suspected singleton SGA/IUGR (estimated fetal weight [EFW] <10(th) centile for gestation and/or abnormal umbilical artery [UA] Doppler) had MPI performed in addition to routine measures, and were followed through to birth...
March 27, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28343558/simulator-based-obstetric-ultrasound-training-a-prospective-randomized-single-blinded-study
#8
Hadar Rosen, Rory Windrim, Yee Man Lee, Lara Gotha, Vsevolod Perelman, Stefania Ronzoni
OBJECTIVE: To compare the use of simulator-based and patient-based obstetric ultrasound training. METHODS: This was a prospective, randomized, single-blinded trial. Eighteen consenting obstetric trainees with minimal previous ultrasound exposure were recruited. Enrolled patients were also fully consenting. Mid-trimester fetal brain anatomy in the standard planes (i.e., biparietal diameter and head circumference, cavum septum pellucidum, posterior fossa, and lateral ventricle) was chosen as a surrogate for all fetal anatomy ultrasound training...
March 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28301892/evaluating-the-performance-of-ultrasound-screening-for-congenital-heart-disease-a-descriptive-cohort-study
#9
Rosemary J Froehlich, Lindsay Maggio, Phinnara Has, Erika F Werner, Dwight J Rouse
Objective The objective of this study was to evaluate the rate of abnormal fetal echocardiogram after normal detailed anatomy ultrasound when both are performed by maternal-fetal medicine specialists. Study Design Retrospective review of women who underwent detailed anatomy ultrasound and fetal echocardiography between 16 and 26 weeks' gestation at a single center. Women included had at least one indication for fetal echocardiography as recommended by the American Institute of Ultrasound in Medicine and normal cardiac anatomy on initial detailed anatomy ultrasound...
March 16, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28295742/prognosis-of-isolated-congenital-diaphragmatic-hernia-using-lung-to-head-circumference-ratio-variability-across-centers-in-a-national-perinatal-network
#10
Marie-Victoire Senat, Hanane Bouchghoul, Julien Stirnemann, Pascal Vaast, Julia Boubnova, Laetitia Begue, Elizabeth Carricaburu, Agnes Sartor, Jacques Jani, Alexandra Benachi, Jean Bouyer
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly. The observed to expected lung area-to-head circumference ratio (o/e-LHR) has been shown to provide a useful prediction of subsequent survival in fetuses with CDH in reference centers with expertise and a large caseload. However, the accuracy of o/e-LHR measurements in unselected fetal medicine units or in centers with less expertise is not well known. OBJECTIVE: To evaluate o/e-LHR measurement in prognostic evaluation of postnatal survival when the measurement is performed in fetal medicine units with different levels of expertise...
March 13, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28295159/first-and-second-trimester-serum-tests-with-and-without-first-trimester-ultrasound-tests-for-down-s-syndrome-screening
#11
REVIEW
S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic
BACKGROUND: Down's syndrome occurs when a person has three copies of chromosome 21 (or the specific area of chromosome 21 implicated in causing Down's syndrome) rather than two. It is the commonest congenital cause of mental disability. Non-invasive screening based on biochemical analysis of maternal serum or urine, or fetal ultrasound measurements, allows estimates of the risk of a pregnancy being affected and provides information to guide decisions about definitive testing.  Before agreeing to screening tests, parents need to be fully informed about the risks, benefits and possible consequences of such a test...
March 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28277918/concordance-of-fetal-echocardiography-in-the-diagnosis-of-congenital-cardiac-disease-utilizing-updated-guidelines
#12
Marijo Aguilera, Kirsten Dummer
OBJECTIVE: We sought to examine the concordance of prenatally diagnosed congenital cardiac disease with postnatal echocardiography. STUDY DESIGN: Patients who underwent fetal echocardiograms performed by pediatric cardiologists at a single referral center from January to December 2014 were reviewed. Fetal echocardiography exams were performed in accordance with guidelines by the American Institute of Ultrasound in Medicine (AIUM) and the American Heart Association (AHA) guidelines (2013 and 2014, respectively)...
March 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28242965/role-of-ultrasound-based-prenatal-prediction-of-pulmonary-function-in-congenital-diaphragmatic-hernia-does-it-have-prognostic-significance-postnatally
#13
Nupur Shah, Sujit Chowdhary, Anita Kaul
BACKGROUND AND OBJECTIVES: The incidence of congenital diaphragmatic hernia (CDH) in India is 1 in 1000. About 60 % of these are isolated, and the survival prognosis in them depends upon the quantum of contralateral functional lung. Out of the various pulmonary and extrapulmonary sonological predictors, observed to expected lung-head ratio (O/E LHR) is an efficient gestation-independent predictor of pulmonary function. This study was carried out to see the correlation of this prenatal predictor with the postnatal outcome depending on the pulmonary function...
February 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/28180199/ultrasound-and-mri-comprehensive-approach-in-prenatal-diagnosis-of-fetal-osteochondrodysplasias-cases-series
#14
Costin Berceanu, Ioana Andreea Gheonea, Simona Vlădăreanu, Monica Mihaela Cîrstoiu, Radu Vlădăreanu, Claudia Mehedinţu, Sabina Berceanu, Răzvan Ciortea, Elvira Brătilă
AIM: To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination...
January 31, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28165177/intrauterine-death-rate-in-gastroschisis-following-the-introduction-of-an-antenatal-surveillance-program-retrospective-observational-study
#15
Helen Perry, Costa Healy, Diana Wellesley, Nigel J Hall, Melanie Drewett, David M Burge, David T Howe
AIM: To investigate whether an antenatal surveillance protocol including ultrasound and cardiotocograph monitoring reduces intrauterine death (IUD) in cases of gastroschisis. Secondary outcomes included neonatal death rate, mode of delivery and rate of intervention before planned time of delivery. METHODS: This was a retrospective observational study of all women with antenatally diagnosed gastroschisis who were managed according to the surveillance program between 2002 and 2015 in a tertiary fetal medicine and pediatric surgical center covering the Wessex region of England...
March 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28153573/development-and-assessment-of-a-novel-task-trainer-and-targeting-tasks-for-ultrasound-guided-invasive-procedures
#16
Joshua F Nitsche, Kristina M Shumard, Brian C Brost
RATIONALE AND OBJECTIVES: The American Institute of Ultrasound in Medicine (AIUM) recommends that all providers performing ultrasound-guided invasive procedures be competent in a core set of guidance skills common to all ultrasound-guided procedures, including in-plane and out-of-plane needle guidance and needle imaging optimization techniques such as probe translation, rotation, and heel-toe standoff. To allow for the practice and assessment of these core skills, we have created a novel task trainer and set of targeting tasks, and sought to obtain validity evidence in the content and response process domains for this training and assessment system according to the Standards for Educational and Psychological Testing...
January 30, 2017: Academic Radiology
https://www.readbyqxmd.com/read/28126366/testing-for-zika-virus-infection-in-pregnancy-key-concepts-to-deal-with-an-emerging-epidemic
#17
REVIEW
Catherine Eppes, Martha Rac, James Dunn, James Versalovic, Kristy O Murray, Melissa A Suter, Magda Sanz Cortes, Jimmy Espinoza, Maxim D Seferovic, Wesley Lee, Peter Hotez, Joan Mastrobattista, Steven L Clark, Michael A Belfort, Kjersti M Aagaard
Zika virus is an emerging mosquito-borne (Aedes genus) arbovirus of the Flaviviridae family. Following epidemics in Micronesia and French Polynesia during the past decade, more recent Zika virus infection outbreaks were first reported in South America as early as May 2013 and spread to now 50 countries throughout the Americas. Although no other flavivirus has previously been known to cause major fetal malformations following perinatal infection, reports of a causal link between Zika virus and microcephaly, brain and ocular malformations, and fetal loss emerged from hard-hit regions of Brazil by October 2015...
March 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28116216/subsequent-fertility-of-goats-with-prenatal-mortality-diagnosed-by-ultrasound-and-treated-by-pgf2%C3%AE-and-oxytetracycline
#18
A S Aban, R M Abdelghafar, M E Badawi, A M Almubarak
Thirteen Saanen and Saanen crossbred female goats, between the ages of 6 months and 7, years were presented to the clinic, College of Veterinary Medicine, Sudan University of Science and Technology, for sonographic pregnancy diagnosis. Transabdominal ultrasound was performed using 3.5 MHz probe which revealed non-viable fetuses as judged by absence of heart beats and movements. Twelve goats were given single i/m injection of PGF2α analogue and 5% oxytetracycline. Ten goats responded to the treatment and six of them became pregnant and gave birth within the normal gestational period...
2017: Veterinary Medicine International
https://www.readbyqxmd.com/read/28114316/timing-of-gestational-weight-gain-on-fetal-growth-and-infant-size-at-birth-in-vietnam
#19
Melissa F Young, Phuong Hong Nguyen, O Yaw Addo, Hoa Pham, Son Nguyen, Reynaldo Martorell, Usha Ramakrishnan
OBJECTIVE: To examine the importance of timing of gestational weight gain during three time periods: 1: ≤ 20 weeks gestation), 2: 21-29 weeks) and 3: ≥ 30 weeks) on fetal growth and infant birth size. METHODS: Study uses secondary data from the PRECONCEPT randomized controlled trial in Thai Nguyen province, Vietnam (n = 1436). Prospective data were collected on women starting pre-pregnancy through delivery. Maternal conditional weight gain (CWG) was defined as window-specific weight gains, uncorrelated with pre-pregnancy body mass index and all prior body weights...
2017: PloS One
https://www.readbyqxmd.com/read/28108156/the-role-of-ultrasound-in-women-who-undergo-cell-free-dna-screening
#20
Mary E Norton, Joseph R Biggio, Jeffrey A Kuller, Sean C Blackwell
The introduction of cell-free DNA screening for aneuploidy into obstetric practice in 2011 revolutionized the strategies utilized for prenatal testing. The purpose of this document is to review the current data on the role of ultrasound in women who have undergone or are considering cell-free DNA screening. The following are Society for Maternal-Fetal Medicine recommendations: (1) in women who have already received a negative cell-free DNA screening screen, ultrasound at 11-14 weeks of gestation solely for the purpose of nuchal translucency measurement (Current Procedural Terminology code 76813) is not recommended (grade 1B); (2) we recommend that diagnostic testing should not be recommended to patients solely for the indication of an isolated soft marker in the setting of a negative cell-free DNA screen (grade 2B); (3) in women with an isolated soft marker without other clinical implications (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative cell-free DNA screen, we recommend describing the finding as not clinically significant or as a normal variant (grade 2B); (4) in women with an isolated soft marker that has no other clinical implication (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative first- or second-trimester screening result, we recommend describing the finding as not clinically significant or as a normal variant (grade 2B); (5) we recommend that all women in whom a structural abnormality is identified by ultrasound should be offered diagnostic testing with chromosomal microarray (grade 1A); and (6) we recommend against routine screening for microdeletions with cell-free DNA screening (grade 1B)...
January 17, 2017: American Journal of Obstetrics and Gynecology
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