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Multiple gestation prenatal diagnosis

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https://www.readbyqxmd.com/read/28410945/diagnostic-approach-in-fetal-coarctation-of-the-aorta-a-cost-utility-analysis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
December 15, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27896259/prenatal-diagnosis-of-spontaneous-twin-anemia-polycythemia-sequence-and-postnatal-examination-of-placental-vascular-anastomoses
#9
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
#10
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
#11
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...
September 28, 2016: 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
#12
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
#13
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
https://www.readbyqxmd.com/read/27569686/association-of-maternal-prepregnancy-bmi-with-metabolomic-profile-across-gestation
#14
C Hellmuth, K L Lindsay, O Uhl, C Buss, P D Wadhwa, B Koletzko, S Entringer
BACKGROUND/OBJECTIVES: Elevated prepregnancy body mass index (pBMI) and excess gestational weight gain (GWG) constitute important prenatal exposures that may program adiposity and disease risk in offspring. The objective of this study is to investigate the influence of pBMI and GWG on the maternal metabolomic profile across pregnancy, and to identify associations with birth weight. SUBJECTS/METHODS: This is a longitudinal prospective study of 167 nondiabetic women carrying a singleton pregnancy...
January 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/27561699/impact-of-changing-indications-and-increased-utilization-of-fetal-echocardiography-on-prenatal-detection-of-congenital-heart-disease
#15
Jonathan Komisar, Shubhika Srivastava, Miwa Geiger, John Doucette, Helen Ko, Jay Shenoy, Rajesh Shenoy
BACKGROUND: Antenatal diagnosis of congenital heart defects (CHD) can impact outcomes in neonates with severe CHD. Obstetric screening guidelines and the indications for fetal echocardiography (FE) have evolved in an attempt to improve the early prenatal detection of CHD. Analyzing yield for specific indications will help clinicians better stratify at-risk pregnancies. METHODS: Retrospective cohort study of all FE performed between 2000 and 2010 at a single tertiary care academic medical center in New York City...
January 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/27329096/goldenhar-syndrome-a-rare-diagnosis-with-possible-prenatal-findings
#16
Bárbara Ribeiro, Joana Igreja, Miguel Gonçalves-Rocha, Alexandra Cadilhe
Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed...
June 21, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27285155/antenatal-three-dimensional-sonographic-features-of-early-amnion-rupture-sequence
#17
Uiko Hanaoka, Hirokazu Tanaka, Toshihiro Yanagihara, Masayuki Ohno, Toshiyuki Hata
BACKGROUND: Early amnion rupture sequence is rare, and its antenatal three-dimensional sonographic features have not been reported. CASE: A 24-year-old japanese woman, gravida 1, para 0, was referred to our sonography clinic during her 16th week of gestation because of multiple fetal anomalies. Three-dimensional sonography clearly showed scalp adhesion, skull defect, abdominal wall disruption, amputation of the right hand, kyphoscoliosis, and clubfeet. Delivery was induced at 17 weeks of gestation...
March 2003: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/27126401/anomalous-pulmonary-venous-return-insights-into-prenatal-detection
#18
Richelle Olsen, Zoe Doyle, Denis Levy, Tracy Anton, Delaram Molkara, Maryam Tarsa, Mark Sklansky, Dolores H Pretorius
OBJECTIVES: To review all cases of total anomalous pulmonary venous return (TAPVR) or partial anomalous pulmonary venous return (PAPVR) identified prenatally or postnatally at a single institution and to identify factors that may lead to a correct or missed diagnosis in both high- and low-risk fetuses on screening examinations. METHODS: Fetal images from 16 cases of prenatally or postnatally diagnosed T/PAPVR were retrospectively reviewed to analyze factors that influenced interpretations and diagnoses...
June 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27105003/outcome-of-fetuses-with-supratentorial-extra-axial-intracranial-cysts-a-systematic-review
#19
REVIEW
Aly Youssef, Francesco D'Antonio, Asma Khalil, Aris T Papageorghiou, Andrea Ciardulli, Antonio Lanzone, Giuseppe Rizzo, Basky Thilaganathan, Gianluigi Pilu
OBJECTIVE: To investigate the incidence of associated anomalies, aneuploidy, cyst progression, need for surgery and neurodevelopmental outcome in fetuses with extra-axial supratentorial intracranial cysts. DATA SOURCES: Medline, Embase and CINAHL databases were searched and the following outcomes analyzed: associated central nervous system (CNS) and extra-CNS anomalies detected at the scan, chromosomal anomalies, additional CNS anomalies detected only at prenatal MRI, additional CNS anomalies detected only after birth, cyst progression in utero, neurological outcome and need for surgery...
2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/27049480/impact-of-a-prenatally-diagnosed-nuchal-cord-on-obstetrical-outcome-in-an-unselected-population
#20
Assaad Kesrouani, Alain Daher, Ali Maoula, Elie Attieh, Sami Richa
OBJECTIVE: Evaluate the outcome of prenatally diagnosed nuchal cord. METHODS: A retrospective study on all cases of prenatally diagnosed nuchal cord. Study end points were gestational age at delivery, intrapartum fetal heart rate (FHR) abnormalities, mode of delivery, intrauterine fetal growth retardation (IUGR), intrauterine fetal demise (IUFD), and the rate of labor induction. RESULTS: This study included 44 cases; 86% were diagnosed at second trimester scan, confirmed by Color Doppler and 3D ultrasound...
February 2017: Journal of Maternal-fetal & Neonatal Medicine
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