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Multiple gestation prenatal diagnosis

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https://www.readbyqxmd.com/read/28698954/principles-of-first-trimester-screening-in-the-age-of-non-invasive-prenatal-diagnosis-screening-for-other-major-defects-and-pregnancy-complications
#1
REVIEW
Karl Oliver Kagan, Jiri Sonek, Philipp Wagner, Markus Hoopmann
PURPOSE: First trimester risk assessment plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and can assess the risk for a wide array of major chromosomal and non-chromosomal defects as well as other pregnancy-related complications. METHODS: A search of the Medline and Embase databases was done looking for articles about first trimester screening...
July 11, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28675887/prenatal-imaging-findings-of-pontine-tegmental-cap-dysplasia-report-of-four-cases
#2
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/28660654/teleultrasound-how-accurate-are-we
#3
Nader Z Rabie, Adam T Sandlin, Kevin A Barber, Songthip Ounpraseuth, Wendy Nembhard, Everett F Magann, Curtis Lowery
OBJECTIVES: Ultrasound serves an important role in the prenatal diagnosis of fetal structural anomalies. Recently, there has been increased use of teleultrasound protocols. We aimed to evaluate the sensitivity and accuracy of teleultrasound. METHODS: We conducted an Institutional Review Board-approved retrospective cohort study determining the sensitivity and accuracy of teleultrasound. In addition, we evaluated the number of ultrasound examinations required to complete an anatomic survey...
June 29, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28646492/prenatal-perinatal-and-neonatal-risk-factors-for-perinatal-arterial-ischaemic-stroke-a-systematic-review-and-meta-analysis
#4
REVIEW
C Li, J K Miao, Y Xu, Y Y Hua, Q Ma, L L Zhou, H J Liu, Q X Chen
The aim of the present study was to perform a meta-analysis of published data to determine the significance of clinical factors and exposures to the risk of perinatal arterial ischaemic stroke (PAIS) and provide guidance for clinical diagnosis and treatment. A comprehensive literature search of the PubMed, Embase, MEDLINE and Cochrane Library databases for relevant observational studies (cohort/case-control) from March 1984 to March 2016 was undertaken. Two review authors independently examined the full text records to determine which studies met the inclusion criteria and evaluated risk factors for PAIS...
June 24, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28585870/accuracy-of-diagnosis-and-counseling-of-fetal-brain-anomalies-prior-to-24%C3%A2-weeks-of-gestational-age
#5
Rozemarijn Snoek, Marieke E W A Albers, Eduard J H Mulder, Klaske D Lichtenbelt, Linda S de Vries, Peter G J Nikkels, Inge Cuppen, Lourens R Pistorius, Gwendolyn T R Manten, Roel de Heus
OBJECTIVE: To evaluate the accuracy of prenatal neurosonography in diagnosing underlying causes of fetal ventriculomegaly, posterior fossa anomalies and microcephaly before 24 weeks' gestational age (GA) and to study the accuracy of prenatal counseling on postnatal prognosis. METHODS: A retrospective cohort study based on 146 cases of these fetal brain anomalies before 24 weeks' GA. Counseling on prognosis was compared with postnatal outcome. Data on genetic testing was analyzed...
June 6, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28578168/neonatal-outcomes-in-fetuses-with-cardiac-anomalies-and-the-impact-of-delivery-route
#6
Laura I Parikh, Katherine L Grantz, Sara N Iqbal, Chun-Chih Huang, Helain J Landy, Melissa H Fries, Uma M Reddy
BACKGROUND: Congenital fetal cardiac anomalies compromise the most common group of fetal structural anomalies. Several previous reports analyzed all types of fetal cardiac anomalies together without individualized neonatal morbidity outcomes based on cardiac defect. Mode of delivery in cases of fetal cardiac anomalies varies greatly as optimal mode of delivery in these complex cases is unknown. OBJECTIVE: We sought to determine rates of neonatal outcomes for fetal cardiac anomalies and examine the role of attempted route of delivery on neonatal morbidity...
May 31, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28558282/can-stress-biomarkers-predict-preterm-birth-in-women-with-threatened-preterm-labor
#7
Ana García-Blanco, Vicente Diago, Verónica Serrano De La Cruz, David Hervás, Consuelo Cháfer-Pericás, Máximo Vento
BACKGROUND: Preterm birth is a major paediatric challenge difficult to prevent and with major adverse outcomes. Prenatal stress plays an important role on preterm birth; however, there are few stress-related models to predict preterm birth in women with Threatened Preterm Labor (TPL). OBJECTIVE: The aim of this work is to study the influence of stress biomarkers on time until birth in TPL women. METHODS: Eligible participants were pregnant women between 24 and 31 gestational weeks admitted to the hospital with TPL diagnosis (n=166)...
May 25, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28410945/diagnostic-approach-in-fetal-coarctation-of-the-aorta-a-cost-utility-analysis
#8
Patrick D Evers, Daksha Ranade, Mark Lewin, Bhawna Arya
BACKGROUND: Coarctation of the aorta (CoA) is difficult to diagnose by fetal echocardiogram (F-Echo), often requiring multiple F-Echos during gestation and neonatal echocardiograms (N-Echos) after birth. Furthermore, CoA is the most common ductal-dependent lesion missed on routine physical exam. OBJECTIVES: We sought to determine the most cost-effective diagnostic approach in caring for infants in whom an initial F-Echo is concerning for CoA. METHODS: Four paradigms for management after initial F-Echo could not rule out CoA were compared, with a single paradigm involving additional F-Echos: (1) multiple F-Echos for diagnostic clarity and performance of N-Echo on neonates with remaining high suspicion for CoA on F-Echos (prenatal-multiple), (2) no further F-Echo and performance of N-Echo on neonates with high suspicion for CoA on initial F-Echo (postnatal-selective), (3) no further F-Echo and performance of N-Echo on all neonates (postnatal-all), and (4) no further F-Echo or N-Echo with reliance on routine physical exam to identify afflicted infants (postnatal-none)...
April 11, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28397377/yield-of-a-12-13-week-scan-for-the-early-diagnosis-of-fetal-congenital-anomalies-in-the-cell-free-dna-era
#9
M J A Kenkhuis, M Bakker, F Bardi, F Fontanella, M K Bakker, H Fleurke-Rozema, C M Bilardo
OBJECTIVE: Aim of the study was to assess the percentage and type of anomalies (structural and chromosomal) that can be detected at an early scan performed at 12-13 weeks' gestation, as opposed to the present screening policy (20 -week scan). METHODS: Sonographers accredited for the nuchal translucency (NT) measurement were asked, after additional training, to participate into the study. The early scans were performed according to a protocol, in six ultrasound practices and 2 referral centers in the Northeast of the Netherlands...
April 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28360945/epigenetic-signatures-of-gestational-diabetes-mellitus-on-cord-blood-methylation
#10
Larissa Haertle, Nady El Hajj, Marcus Dittrich, Tobias Müller, Indrajit Nanda, Harald Lehnen, Thomas Haaf
BACKGROUND: Intrauterine exposure to gestational diabetes mellitus (GDM) confers a lifelong increased risk for metabolic and other complex disorders to the offspring. GDM-induced epigenetic modifications modulating gene regulation and persisting into later life are generally assumed to mediate these elevated disease susceptibilities. To identify candidate genes for fetal programming, we compared genome-wide methylation patterns of fetal cord bloods (FCBs) from GDM and control pregnancies...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28300009/prenatal-diagnosis-of-aortopulmonary-window-associated-with-aberrant-subclavian-artery
#11
Adetola F Louis-Jacques, Sarah Obican, Thieu Nguyen, Anthony Odibo
Aortopulmonary window is a rare cardiac developmental anomaly characterised by a communication between the ascending aorta and the pulmonary artery. Aortopulmonary window may be isolated or associated with cardiac defects such as ventricular septal defect, atrial septal defect, interrupted aortic arch, and tetralogy of Fallot. We report a case of aortopulmonary window associated with aberrant subclavian artery based on fetal two-dimensional echocardiogram. The mother was referred for fetal echocardiography because of multiple fetal anomalies...
March 16, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28150444/the-influence-of-chorionicity-and-gestational-age-at-single-fetal-loss-on-the-risk-of-preterm-birth-in-twin-pregnancies-analysis-of-the-stork-multiple-pregnancy-cohort
#12
Francesco D'Antonio, Basky Thilaganathan, Tiran Dias, Asma Khalil
BACKGROUND: Single intrauterine death (sIUD) in twin pregnancies is associated with a significant risk of co-twin demise and preterm birth (PTB), especially in monochorionic (MC) twins. However, it is yet to be established whether the gestational age at loss may influence the pregnancy outcome. The aim of this study was to explore the risk of PTB according to the gestational age at the diagnosis of sIUD. METHODS: A cohort study of all twin pregnancies from a large regional network of 9 hospitals over a ten-year period...
February 2, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28029179/prenatal-diagnosis-of-congenital-heart-diseases-by-fetal-echocardiography-in-second-trimester-a-chinese-multicenter-study
#13
MULTICENTER STUDY
Chen Chu, Yingliu Yan, Yunyun Ren, Xiaotian Li, Yonghao Gui
INTRODUCTION: The objective of our study was to evaluate the performance of detailed fetal echocardiography by skilled obstetric physician sonologists in the diagnosis of congenital heart disease (CHD) in a Chinese population. MATERIAL AND METHODS: This investigation included a multicenter prospective cohort of 10 259 pregnant women attending 10 regional tertiary hospitals in China. The inclusion criteria were singleton pregnancy and gestational age from 18 to ≤28 weeks...
April 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/27978593/fetal-neurosonogaphy-ultrasound-and-magnetic-resonance-imaging-in-competition
#14
S Tercanli, F Prüfer
Both in routine diagnostics and detailed, highly specialized workups, major advances have been observed in many areas of ultrasound due to an increase in expertise and improved technology in recent years. This is particularly true in the case of fetal neurosonography 1 2 3 4. Malformations of the CNS together with fetal heart defects are among the most common congenital anomalies. From the embryonic phase to the late third trimester, the CNS undergoes extensive development and maturation processes. The diagnosis of CNS anomalies is therefore primarily dependent on the time at which the examination is performed and the experience of the examiner...
December 2016: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/27977853/termination-of-pregnancy-due-to-renal-tract-abnormalities-survey-of-97-fetuses-from-a-single-medical-center
#15
Yaakov Melcer, Gaby Kaplan, Ido Ben-Ami, Hilla Bahat, Amos Neheman, Narine Galoyan, Ron Maymon
OBJECTIVE: The article aimed to assess the spectrum of fetal renal tract abnormalities as a major finding leading to termination of pregnancy (TOP). METHOD: The study population included all pregnant women with singleton pregnancy who underwent TOP in our institute because of fetal renal tract indications between 1998 and 2015. We specifically excluded TOPs performed because of multiple pregnancies, multisystem defects, abnormal karyotype and chromosomal or genetic defect not related to renal tract abnormalities...
March 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27896259/prenatal-diagnosis-of-spontaneous-twin-anemia-polycythemia-sequence-and-postnatal-examination-of-placental-vascular-anastomoses
#16
Jin Young Bae, Jin Ju Oh, Seong Yeon Hong
Twin anemia-polycythemia sequence (TAPS) is characterized by a wide discrepancy of hemoglobin between two monochorionic fetuses without sign of twin oligo-polyhydramnios sequence. A primiparous woman with monochorionic diamniotic twin transferred for preterm labor. Ultrasonographic evaluation at 32+3 weeks of gestation revealed increased middle cerebral artery-peak systolic velocity (77.4 cm/sec, 1.69 multiples of median) in donor and decreased in recipient twin (36.4 cm/sec, 0.79 multiples of median), the twin was diagnosed with TAPS...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27879005/transient-distention-of-right-posterior-located-sigma-a-new-sonographic-sign-for-the-prenatal-diagnosis-of-anal-atresia
#17
Moshe Bronshtein, Ayala Gover, Ron Beloosesky, Zeev Blumenfeld
We describe a new sonographic sign for the detection of anal atresia in the early midtrimester on transvaginal sonography. In six cases of fetal anal atresia, the finding of a transient, distended, and right-sided sigmoid colon was observed at 13-16 weeks' gestation. Three cases have undergone pregnancy termination due to multiple anomalies. In the other three, the colonic distension resolved by 19 weeks' gestation. In two of these, the finding was isolated, and no other anomalies were detected. In all six cases, anal atresia or cloaca was confirmed on postabortal autopsy or after delivery...
March 4, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/27773638/diagnosis-and-risk-factors-of-acute-kidney-injury-in-very-low-birth-weight-infants
#18
Ankana Daga, Fredrick Dapaah-Siakwan, Sharina Rajbhandari, Cassandra Arevalo, Agnes Salvador
BACKGROUND: Acute kidney injury (AKI) is common in critically ill premature infants. There is a lack of consensus on the diagnostic definition of AKI in very low birth weight (VLBW) infants. The primary aim of this study was to determine the incidence and risk factors for AKI in VLBW infants using the AKI network (AKIN) and pRIFLE (pediatric Risk, Injury, Failure, Loss, End-Stage) criteria and to evaluate whether Clinical Risk Index for Babies (CRIB II) score is a predictor of AKI. The secondary objective was to determine the extent of agreement between the AKIN and pRIFLE criteria in the diagnosis of AKI in VLBW infants...
June 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27726416/zika-virus-associated-micrencephaly-a-thorough-description-of-neuropathologic-findings-in-the-fetal-central-nervous-system
#19
Peter Štrafela, Alenka Vizjak, Jerica Mraz, Jernej Mlakar, Jože Pižem, Nataša Tul, Tatjana Avšič Županc, Mara Popović
CONTEXT: -The 2015 outbreak of Zika virus in Brazil resulted in a 20-times increased prevalence of congenital microcephaly in stillborns and neonates and was instrumental in raising the suspicion of a causal association between Zika virus and microcephaly. OBJECTIVE: -To provide a comprehensive description of the neuropathologic features of congenital Zika virus infection. DESIGN: -Autopsy evaluation of the brain from a fetus of 32 weeks and 6 days of gestation, with a prenatal diagnosis of microcephaly associated with polymerase chain reaction-confirmed, fetal, Zika virus infection...
January 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/27571125/a-rare-presentation-of-isolated-congenital-splenic-hemangioma-with-kasabach-merritt-syndrome
#20
Fredrick Dapaah-Siakwan, Carleene Bryan, Lashawndra S Walker, Teresa Del Moral
INTRODUCTION: Splenic hemangiomas (SHs) are the most common benign neoplasms of the spleen. However, they are rare in the newborn period. We present an extremely rare case of congenital SH complicated by Kasabach-Merritt syndrome. CASE PRESENTATION: A 2.93 kg male infant was delivered at term with a prenatal diagnosis of a left infrarenal mass diagnosed by ultrasound at 35 weeks of gestation. Magnetic resonance imaging demonstrated a well-defined splenic mass with multiple flow voids and scattered areas of high intensity suggestive of hemorrhage...
January 2017: Journal of Pediatric Hematology/oncology
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