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Prenatal diagnosis

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https://www.readbyqxmd.com/read/28534800/a-deep-convolutional-neural-network-based-framework-for-automatic-fetal-facial-standard-plane-recognition
#1
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/28533841/-collodion-baby-clinical-aspects-and-role-of-prenatal-diagnosis
#2
Ridha Fatnassi, Nédia Marouen, Houcem Ragmoun, Latifa Marzougui, Sabra Hammami
Collodion baby is a severe form of congenital ichthyosis detected in neonatal period. It often has a characteristic clinical picture. When evolution is not fatal; it often causes dry Ichthyosis. Thanks to molecular biology techniques, prenatal diagnosis can be made since the 10-12 weeks of amenorrhea, allowing genetic counselling. Prognosis depends on several parameters, namely the degree of the initial manifestation, the duration of desquamation, as well as underlying Ichthyosis This rewiew of the literature which aims to clarify the diagnostic aspects and therapeutic treatment as well as the role of the antenatal diagnosis is based on a new observation of a collodion baby born at 34 weeks, of a parturient woman having an index case and of infant deaths occurring in the first day of life...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28531808/prenatal-diagnosis-of-biliary-atresia-a-case-series
#3
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/28527560/prenatal-diagnosis-of-anomalous-origin-of-the-right-pulmonary-artery
#4
Raquel García-Delgado, Francisco Jiménez, Hipólito Falcón
No abstract text is available yet for this article.
May 17, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28527270/-effect-of-antenatal-spiramycin-treatment-on-the-frequency-of-retinochoroiditis-due-to-congenital-toxoplasmosis-in-a-colombian-cohort
#5
Liliana María Zuluaga, John Camilo Hernández, Carlos Felipe Castaño, Jorge Hernando Donado
INTRODUCTION: Gestational toxoplasmosis is frequent and severe. There is still debate about the benefits of treatment against ocular manifestations in the newborn. Spiramycin treatment is used for this purpose, unfortunately prenatal diagnosis is sometimes delayed and pregnant women are not treated. OBJECTIVE: To describe the relationship between treatment with spiramycin during pregnancy in mothers with gestational toxoplasmosis and development of ocular toxoplasmosis in newborns...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527042/parenting-stress-among-parents-of-children-with-congenital-diaphragmatic-hernia
#6
Elin Öst, Margret Nisell, Björn Frenckner, Carmen Mesas Burgos, Maria Öjmyr-Joelsson
PURPOSE: The aim of this study was to examine parental stress among parents of children with congenital diaphragmatic hernia (CDH). METHODS: Between 2005 and 2009, a total of 51 children with CDH were treated at Astrid Lindgren Children's Hospital. The survival rate at discharge was 86% and long-term survival rate 80%. One parent each of the long-term survivors (41 children) was included in the present study, and 34 parents (83%) agreed to participate. Participants received the Swedish Parenthood Stress Questionnaire (SPSQ)...
May 19, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28525627/geographic-patterns-of-autism-spectrum-disorder-among-children-of-nurses-health-study-ii-women
#7
Kate Hoffman, Marc G Weisskopf, Andrea L Roberts, Raanan Raz, Jaime E Hart, Kristen Lyall, Elin M Hoffman, Francine Laden, Verónica M Vieira
Data indicate that autism spectrum disorder (ASD) prevalence may be increasing and varies geographically. We investigated associations between residential location and ASD in the children of Nurses' Health Study II women in order to generate hypotheses about social and environmental factors related to etiology or diagnosis. Analyses included 13,507 children born from 1989-1999 (486 with ASD). We explored relationships between ASD and residential location at both birth and age 6 years (i.e. closer to average diagnosis age)...
May 19, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28523762/a-retrospective-study-of-cytogenetic-results-from-amniotic-fluid-in-5328-fetuses-with-abnormal-obstetric-sonographic-findings
#8
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
#9
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/28521069/experiences-and-expectations-in-the-first-trimester-of-pregnancy-a-qualitative-study
#10
Stina Lou, Michal Frumer, Mette M Schlütter, Olav B Petersen, Ida Vogel, Camilla P Nielsen
BACKGROUND: A dominant context for pregnant women in the Western world is medical technologies such as ultrasound and screening. It has been argued that such technologies may result in tentative pregnancies, which may be particularly prominent in the first trimester. However, little is known about how women experience early pregnancy. OBJECTIVE: To explore the everyday experiences and expectations of first trimester pregnant women in a medicalized context of comprehensive and routine prenatal screening...
May 18, 2017: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/28518170/prenatal-exome-sequencing-in-anomalous-fetuses-new-opportunities-and-challenges
#11
Neeta L Vora, Bradford Powell, Alicia Brandt, Natasha Strande, Emily Hardisty, Kelly Gilmore, Ann Katherine M Foreman, Kirk Wilhelmsen, Chris Bizon, Jason Reilly, Phil Owen, Cynthia M Powell, Debra Skinner, Christine Rini, Anne D Lyerly, Kim A Boggess, Karen Weck, Jonathan S Berg, James P Evans
PurposeWe investigated the diagnostic and clinical performance of exome sequencing in fetuses with sonographic abnormalities with normal karyotype and microarray and, in some cases, normal gene-specific sequencing.MethodsExome sequencing was performed on DNA from 15 anomalous fetuses and from the peripheral blood of their parents. Parents provided consent to be informed of diagnostic results in the fetus, medically actionable findings in the parents, and their identification as carrier couples for significant autosomal recessive conditions...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#12
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
https://www.readbyqxmd.com/read/28516087/dna-sequence-analysis-in-clinical-medicine-proceeding-cautiously
#13
REVIEW
Moyra Smith
Delineation of underlying genomic and genetic factors in a specific disease may be valuable in establishing a definitive diagnosis and may guide patient management and counseling. In addition, genetic information may be useful in identification of at risk family members. Gene mapping and initial genome sequencing data enabled the development of microarrays to analyze genomic variants. The goal of this review is to consider different generations of sequencing techniques and their application to exome sequencing and whole genome sequencing and their clinical applications...
2017: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28515590/prenatal-diagnosis-of-a-rare-aortic-arch-anomaly-with-left-aortic-arch-and-right-ductus-arteriosus-cross-ribbon-sign
#14
S Boopathy Vijayaraghavan, Sathiya Senthil, K Latha
Here, we report a fetus with a rare aortic arch anomaly with left aortic arch and right ductus arteriosus, which has not been reported so far. In this condition, the aorta extends to the left of the trachea as in normal, while the ductus arteriosus extends to the right of the trachea and joins the descending aorta posterior to the trachea, with a cross-ribbon sign.
January 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28514881/trisomy-13-and-the-risk-of-gestational-hypertensive-disorders-a-population-based-study
#15
Sarah K Dotters-Katz, Whitney M Humphrey, Kayli L Senz, Vanessa R Lee, Brian L Shaffer, Jeffrey A Kuller, Aaron B Caughey
PURPOSE: To describe the rate and severity of gestational hypertensive disorders (GHD) in pregnancies complicated by trisomy 13 (T13). MATERIALS AND METHODS: Retrospective cohort study of singleton deliveries in California from 2005-2008 using vital statistics and ICD-9 data. We were interested in gestational hypertension (gHTN), preeclampsia with and without severe features (sPREX and PREX), and gestational age at delivery. Pregnancies and maternal complications affected by prenatally diagnosed T13 were compared to unaffected pregnancies...
May 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28514642/congenital-adrenal-hyperplasia-due-to-11-hydroxylase-deficiency-compound-heterozygous-mutations-of-a-prevalent-and-two-novel-cyp11b1-mutations
#16
Chongjuan Gu, Tao Tan, Junbao Yang, Yilu Lu, Yongxin Ma
11β-hydroxylase deficiency (11β-OHD) occurs in about 5-8% of congenital adrenal hyperplasia (CAH). In this study, we identified three CYP11B1 (encoding Cytochrome P450 11B1) heterozygous mutations: c.1358G>C (p.R453Q), c.1229T>G (p.L410R) and c.1231G>T (p.G411C) in a Chinese CAH patient due to classic 11β-OHD. His parents were healthy and respectively carried the prevalent mutation c.1358G>C (p.R453Q), and the two novel mutations c.1229T>G (p.L410R) and c.1231G>T (p.G411C). In vitro expression studies, immunofluorescence demonstrated that wild type and mutant (L410R and G411C) proteins of CYP11B1 were correctly expressed on the mitochondria, and enzyme activity assay revealed the mutant reduced the 11-hydroxylase activity to 10% (P<0...
May 14, 2017: Gene
https://www.readbyqxmd.com/read/28513240/prenatal-diagnosis-of-monosomy-18p-associated-with-holoprosencephaly-case-report
#17
Zhaochu Yin, Kai Zhang, Bin Ni, Xiongwei Fan, Xiushan Wu
No abstract text is available yet for this article.
May 17, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28512206/genetic-testing-and-reproductive-choice-in-neurological-disorders
#18
REVIEW
Omay Lee, Mary Porteous
Genetic testing is increasingly important for investigating suspected inherited neurological conditions. A genetic diagnosis can have a huge impact on patients and also their families. It is important for neurologists to appreciate the presymptomatic and prenatal testing options available to patients and their at-risk relatives once a genetic disorder is diagnosed. Asymptomatic family members can experience considerable psychological distress from the knowledge that they might have inherited a neurodegenerative condition...
May 16, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28510072/fetal-ventriculomegaly-diagnosis-treatment-and-future-directions
#19
Jared M Pisapia, Saurabh Sinha, Deborah M Zarnow, Mark P Johnson, Gregory G Heuer
Fetal ventriculomegaly (VM) refers to the enlargement of the cerebral ventricles in utero. It is associated with the postnatal diagnosis of hydrocephalus. VM is clinically diagnosed on ultrasound and is defined as an atrial diameter greater than 10 mm. Because of the anatomic detailed seen with advanced imaging, VM is often further characterized by fetal magnetic resonance imaging (MRI). Fetal VM is a heterogeneous condition with various etiologies and a wide range of neurodevelopmental outcomes. These outcomes are heavily dependent on the presence or absence of associated anomalies and the direct cause of the ventriculomegaly rather than on the absolute degree of VM...
May 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28510070/sonographic-detection-of-open-spina-bifida-in-the-first-trimester-review-of-the-literature
#20
César Meller, Horacio Aiello, Lucas Otaño
In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the "lemon sign" and the "banana sign"), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities...
May 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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