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https://www.readbyqxmd.com/read/28545266/-analysis-of-misssed-diagnosis-and-misdiagnosis-of-1-212-cases-with-placental-abruption
#1
D Xu, C Liang, J W Xu, J He
Objective: To investigate the risk factors and clinical manifestations of placental abruption, and to analyze the causes of missed diagnosis and misdiagnosis. Methods: A retrospective analysis was conducted in 135 584 women who delivered in Women's Hospital, School of Medicine, Zhejiang University from January 2005 to December 2015. The diagnosis of placental abruption was made in 1 212 cases. According to the consistency of prenatal and postnatal diagnosis, they were divided into 3 groups. (1) The diagnosis was consistent prenatally and postnatally in 715 cases(58...
May 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28544620/phenotyping-cardiac-and-structural-birth-defects-in-fetal-and-newborn-mice
#2
REVIEW
Xiaoqin Liu, Andrew J Kim, William Reynolds, Yijen Wu, Cecilia W Lo
Mouse models are invaluable for investigating the developmental etiology and molecular pathogenesis of structural birth defects. While this has been deployed for studying a wide spectrum of birth defects, mice are particularly valuable for modeling congenital heart disease, given they have the same four-chamber cardiac anatomy as in humans. We have developed the use of noninvasive fetal ultrasound together with micro-computed tomography (micro-CT) imaging for high throughput phenotyping of mice for congenital heart defects (CHD) and other developmental anomalies...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544538/cornelia-de-lange-syndrome-to-diagnose-or-not-to-diagnose-in-utero
#3
REVIEW
Laura Avagliano, Gaetano Pietro Bulfamante, Valentina Massa
Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28540849/pre-eclampsia-overview-on-the-role-of-biomarkers-in-2016
#4
Henry Paridaens, Damien Gruson
Preeclampsia which affects approximatively 2% of pregnancies is a major cause of maternal and perinatal morbidity and mortality. Pathogenesis of pre-eclampsia is nowadays increasingly understood. It implies multiple actors and biomarkers appear to be playing a major role. New uses of those biomarkers for risk stratification and diagnosis of predisposed preeclamptic patients followed by obstetricians is an hot topic. The combined approach of biomarkers, medical history and obstetrical ultrasounds enables risk estimation in the first quarter and later on...
June 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28537755/a-pilot-study-of-noninvasive-prenatal-diagnosis-of-alpha-and-beta-thalassemia-with-target-capture-sequencing-of-cell-free-fetal-dna-in-maternal-blood
#5
Wenjuan Wang, Yuan Yuan, Haiqing Zheng, Yaoshen Wang, Dan Zeng, Yihua Yang, Xin Yi, Yang Xia, Chunjiang Zhu
AIMS: Thalassemia is a dangerous hematolytic genetic disease. In south China, ∼24% Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that the invasive sampling procedures can only be performed by professionals in experienced centers, it may increase the risk of miscarriage or infection. Thus, most people are worried about the invasive operation. As such, a noninvasive and accurate prenatal diagnosis is needed for appropriate genetic counseling for families with high risks...
May 24, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28536839/maternal-fetal-surgery-for-myelomeningocele-some-thoughts-on-ethical-legal-and-psychological-issues-in-a-western-european-situation
#6
Frank Van Calenbergh, Luc Joyeux, Jan Deprest
BACKGROUND: The results of the Management of Myelomeningocele Study (MOMS) randomized controlled trial have demonstrated that maternal-fetal surgery (MFS) for myelomeningocele (MMC) compared to postnatal MMC repair has clear neurological benefits for the child at 12 and 30 months of age. Level I evidence nevertheless does not provide answers to many questions in this delicate field. Since the beginning of 2012, our fetal center has been offering MFS for spina bifida aperta (SBA) to patients from different European and non-European countries, in a societal context where termination of pregnancy is the option chosen by most patients when being informed of this diagnosis...
May 23, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28536811/listeriosis-during-pregnancy
#7
REVIEW
Mitko Madjunkov, Shahnaz Chaudhry, Shinya Ito
PURPOSE: Listeriosis is a rare foodborne illness caused by Listeria monocytogenes. It can be transmitted by consuming contaminated ready-to-eat food, long shelf-life products, deli meats, and soft cheeses. Listeria has a predilection to affect immunocompromised patients, elderly people, pregnant women and neonates. In particular, pregnant women are at ~18 times greater risk of infection than general population due to specific pregnancy-related suppressed cell-mediated immunity and placental tropism of L...
May 23, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28536688/isolated-fetal-lymphatic-malformation-of-the-thigh-prenatal-diagnosis-and-follow-up
#8
Huseyin Durukan, İlay Gözükara, Murside Cevikoglu, Talat Umut Kutlu Dilek
Fetal lymphatic malformation can be found in different parts of the fetal body. It occurs most frequently in the nuchal and axillary region and less frequently in the abdomen or inguinal areas. Lymphatic malformation has been associated with fetal aneuploidy, hydrops fetalis, structural malformations, and intrauterine fetal death. A 31-year-old gravida 3, para 2 woman was admitted to our hospital at 22 weeks of gestation (confirmed by ultrasonographic examination). The fetus was alive, and had a mass derived from the left inguinal region extending to the anterior left leg with fluid-filled cavities about 3-5 cm in size...
January 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28536443/diagnostic-accuracy-of-ultrasound-scanning-for-prenatal-microcephaly-in-the-context-of-zika-virus-infection-a-systematic-review-and-meta-analysis
#9
Ezinne C Chibueze, Alex J Q Parsons, Katharina da Silva Lopes, Takemoto Yo, Toshiyuki Swa, Chie Nagata, Nobuyuki Horita, Naho Morisaki, Olukunmi O Balogun, Amarjargal Dagvadorj, Erika Ota, Rintaro Mori, Olufemi T Oladapo
To assess the accuracy of ultrasound measurements of fetal biometric parameters for prenatal diagnosis of microcephaly in the context of Zika virus (ZIKV) infection, we searched bibliographic databases for studies published until March 3rd, 2016. We extracted the numbers of true positives, false positives, true negatives, and false negatives and performed a meta-analysis to estimate group sensitivity and specificity. Predictive values for ZIKV-infected pregnancies were extrapolated from those obtained for pregnancies unrelated to ZIKV...
May 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28535908/cell-free-fetal-dna-testing-in-prenatal-diagnosis-recommendations-of-the-polish-gynecological-society-and-the-polish-human-genetics-society
#10
Piotr Sieroszewski, Mirosław Wielgos, Stanislaw Radowicki, Maria Sasiadek, Maciej Borowiec, Dariusz Borowski, Lucjusz Jakubowski, Piotr Kaczmarek, Anna Latos-Bielenska, Piotr Laudanski, Beata Nowakowska, Przemyslaw Oszukowski, Marek Pietryga, Krzysztof Piotrowski, Krzyszof Preis, Mariola Ropacka-Lesiak, Piotr Wegrzyn, Hanna Moczulska
This paper contains a joint position of the Polish Gynecological Society and Polish Human Genetics Society on the cell-free fetal DNA testing in prenatal diagnosis. We present situations where the cell-free fetal DNA testing should be applied and cases in which performing of the test is not useful. We indicate what diagnostic steps should be performed before the test and how the test results should be interpreted and followed.
May 12, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28534800/a-deep-convolutional-neural-network-based-framework-for-automatic-fetal-facial-standard-plane-recognition
#11
Zhen Yu, Ee-Leng Tan, Dong Ni, Jing Qin, Siping Chen, Shenli Li, Baiying Lei, Tianfu Wang
Ultrasound imaging has become a prevalent examination method in prenatal diagnosis. Accurate acquisition of fetal facial standard plane (FFSP) is the most important precondition for subsequent diagnosis and measurement. In the past few years, considerable effort has been devoted to FFSP recognition using various hand-crafted features, but the recognition performance is still unsatisfactory due to the high intra-class variation of FFSPs and the high degree of visual similarity between FFSPs and other non-FFSPs...
May 17, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28534011/is-massive-proteinuria-associated-with-maternal-and-fetal-morbidities-in-preeclampsia
#12
Mi Jung Kim, Young Nam Kim, Eun Jung Jung, Hye Ree Jang, Jung Mi Byun, Dae Hoon Jeong, Moon Su Sung, Kyung Bok Lee, Ki Tae Kim
OBJECTIVE: The aim of this study was to investigate whether massive proteinuria in preeclampsia is associated with maternal and fetal complications. METHODS: We retrospectively analyzed the clinical records of 233 patients who were diagnosed with preeclampsia. We divided the preeclamptic patients into three groups based on the amount of proteinuria: massive (≥5 g/24 hr), moderate (2 to 5 g/24 hr) and mild (<2 g/24 hr) proteinuria group. We analyzed the clinical characteristics and maternal and neonatal complications among three groups...
May 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28532528/hepatic-calcifications-in-fetal-population-studied-by-autopsies-in-bogota-colombia
#13
M Olaya-C, S Aldana-M, M Maya-G, F Gil
Fetal hepatic calcifications can be caused by infections, chromosomal disorders, thrombotic events, ischemic hepatic necrosis and subcapsular hematomas among others events. Its features and clinical significance are still not well known. We performed an observational study to describe fetal hepatic calcifications and its association with main clinical and histopathological findings from the fetal autopsy database, between 2007 and 2014. Raw odds ratio analysis was performed. We reviewed 591 fetal autopsies: 14 cases with hepatic calcifications, 102 fetuses with chromosomal disorders; 13 with diagnosis of TORSCH (toxoplasma, rubella, syphilis, cytomegalovirus, herpes virus 1 and 2, and others) and 207 with any abnormality in the umbilical cord (UC)...
May 23, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28531808/prenatal-diagnosis-of-biliary-atresia-a-case-series
#14
O Shen, H Y Sela, H Nagar, R Rabinowitz, E Jacobovich, D Chen, E Granot
BACKGROUND: Biliary atresia is a progressive disease presenting with jaundice, and is the most common indication for liver transplantation in the pediatric population. Prenatal series have yielded conflicting results concerning a possible association between BA and prenatal nonvisualization of the gallbladder. AIMS: This retrospective case series was performed to assess the association between biliary atresia, prenatal nonvisualization of the gallbladder and other sonographic signs...
May 19, 2017: Early Human Development
https://www.readbyqxmd.com/read/28529058/customized-and-non-customized-live-born-birth-weight-curves-of-single-and-uncomplicated-pregnancies-from-the-burgundy-perinatal-network-part-i-methodology
#15
Thierry Rousseau, Olivia Durand-Maison, Catherine Labruere-Chazal, Florine Tabard, Ahmed Jebrane, Olivia Martz, Eric Benzenine, Jonathan Cottenet, Paul Sagot
OBJECTIVES: To establish non-customized and customized birth-weight curves of single and uncomplicated pregnancies according to gestational age. MATERIALS AND METHODS: We used data for 64.173 mother-infants pairs from the Burgundy perinatal network database (France) over the period 2005 - 2013. A validated procedure was used to link mothers with their newborns, and maternal and fetal pathologies likely to affect birth weight were excluded. Multiple regression analysis with covariate selection was used to build a customized growth curve with maternal and fetal parameters...
May 18, 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28523762/a-retrospective-study-of-cytogenetic-results-from-amniotic-fluid-in-5328-fetuses-with-abnormal-obstetric-sonographic-findings
#16
Shuo Zhang, Caixia Lei, Junping Wu, Haiyan Sun, Yuezhou Yang, Yueping Zhang, Xiaoxi Sun
OBJECTIVES: The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes. METHODS: We conducted a retrospective study of 5328 fetuses with abnormal sonographic findings in the first or second trimester enrolled from October 1998 and September 2015. Cytogenetic results from amniotic fluid were obtained in all of these pregnancies...
May 19, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28523332/apert-syndrome-clinical-case
#17
Mirela Anişoara Siminel, Cristian Ovidiu NeamŢu, Damian DiŢescu, Mircea Cătălin ForŢofoiu, Alexandru Cristian Comănescu, Marius Bogdan Novac, Simona Daniela NeamŢu, Adrian Gluhovschi
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28523061/duel-stage-treatment-for-biliary-cysts-with-cholangitis-during-pregnancy
#18
Baoxing Jia, Ludong Tan, Zhe Jin, Yahui Liu
BACKGROUND & OBJECTIVE: Biliary cysts in pregnant women are a complex medical issue, especially when complicated with cholangitis. It is a serious and life-threatening diagnosis that can seriously endanger both the expectant mother and the fetus. However, during pregnancy, surgical treatment would lead to further complications and higher fetal mortality. Here, we propose a novel therapeutic approach that would be safe for both mother and child during pregnancy, with a definitive treatment postponed until after delivery...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28522661/quantitative-folding-pattern-analysis-of-early-primary-sulci-in-human-fetuses-with-brain-abnormalities
#19
K Im, A Guimaraes, Y Kim, E Cottrill, B Gagoski, C Rollins, C Ortinau, E Yang, P E Grant
BACKGROUND AND PURPOSE: Aberrant gyral folding is a key feature in the diagnosis of many cerebral malformations. However, in fetal life, it is particularly challenging to confidently diagnose aberrant folding because of the rapid spatiotemporal changes of gyral development. Currently, there is no resource to measure how an individual fetal brain compares with normal spatiotemporal variations. In this study, we assessed the potential for automatic analysis of early sulcal patterns to detect individual fetal brains with cerebral abnormalities...
May 18, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#20
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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