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Prenatal diagnosis

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https://www.readbyqxmd.com/read/28109069/re-moving-from-intra-partum-to-prenatal-diagnosis-of-placenta-accreta-a-quarter-of-a-century-in-the-making-but-still-a-long-way-to-go-obstetricians-intra-surgical-eyes-keep-on-shining
#1
Shigeki Matsubara
For improved treatment of abnormally invasive placenta (AIP), Jauniaux and Silver weighed 'antenatal (pre-surgical)' over 'intra-partum (intra-surgical)' diagnosis,(1) with which in principle I agree. However, the importance of the latter should be re-emphasised. This article is protected by copyright. All rights reserved.
January 21, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28109006/attitudes-towards-non-invasive-prenatal-diagnosis-among-obstetricians-in-pakistan-a-developing-islamic-country
#2
Shenaz Ahmed, Hussain Jafri, Yasmin Rashid, Gerald Mason, Yasmin Ehsan, Mushtaq Ahmed
OBJECTIVES: Stakeholders' views are essential for informing implementation strategies for non-invasive prenatal testing (NIPT). Little is known about such views in developing countries. We explored attitudes toward NIPT among obstetricians in Pakistan, a developing Islamic country. METHODS: A 35-item questionnaire was distributed and collected at eight events (a national conference and seven workshops in five cities) for obstetric professionals on advances in fetal medicine...
January 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28108133/-ductus-arteriosus-aneurysm-prenatal-diagnosis-and-outcome
#3
Esteban Peiró Molina, Antonio Sánchez Andrés, José Ignacio Carrasco Moreno
No abstract text is available yet for this article.
January 17, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28103589/the-effects-of-body-mass-index-on-second-trimester-amniotic-fluid-cytokine-and-matrix-metalloproteinase-levels
#4
Rauf Melekoglu, Osman Ciftci, Sevil Eraslan, Nese Basak, Ebru Celik
AIM: The aim of this study was to determine the effects of obesity on amniotic fluid (AF) inflammatory markers in second-trimester AF, testing the hypothesis that there is a relationship between maternal body mass index (BMI) and fetal inflammatory exposure. METHODS: AF was obtained from 84 singleton pregnant women undergoing elective amniocentesis for karyotype analysis at 16-24 weeks of gestation between April 2014 and May 2016. The cell-free AF was used to analyze interleukin (IL)-1β and IL-6, and matrix metalloproteinase (MMP)-1, MMP-6, and MMP-13...
January 20, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/28101802/cold-pcr-technologies-in-the-area-of-personalized-medicine-methodology-and-applications
#5
REVIEW
Florence Mauger, Alexandre How-Kit, Jörg Tost
Somatic mutations bear great promise for use as biomarkers for personalized medicine, but are often present only in low abundance in biological material and are therefore difficult to detect. Many assays for mutation analysis in cancer-related genes (hotspots) have been developed to improve diagnosis, prognosis, prediction of drug resistance, and monitoring of the response to treatment. Two major approaches have been developed: mutation-specific amplification methods and methods that enrich and detect mutations without prior knowledge on the exact location and identity of the mutation...
January 18, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28101780/update-of-the-spectrum-of-mucopolysaccharidoses-type-iii-in-tunisia-identification-of-three-novel-mutations-and-in-silico-structural-analysis-of-the-missense-mutations
#6
Souad Ouesleti, Maria Francisca Coutinho, Isaura Ribeiro, Abdehedi Miled, Dalila Saidane Mosbahi, Sandra Alves
BACKGROUND: Mucopolysaccharidoses type III (MPS III) are a group of autosomal recessive lysosomal storage diseases, caused by mutations in genes that code for enzymes involved in the lysosomal degradation of heparan sulphate: heparan sulfate sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS). METHODS: In this study, we have performed the molecular analysis of the SGSH, NAGLU and HGSNAT genes in 10 patients from 6 different MPS III Tunisian families...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28101770/factors-controlling-fetal-echocardiography-determine-the-diagnostic-accuracy-of-isolated-ventricular-septal-defect
#7
Jiao Chen, Liang Xie, Han-Min Liu
BACKGROUND: Fetal echocardiography (FECG) is a key screening tool for prenatal cardiac abnormalities. Herein, we examined the ultrasonic factors determining prenatal ultrasonic diagnosis of isolated ventricular septal defect (IVSD). METHODS: The diagnostic role of ultrasonic factors was investigated in patients in middle or late pregnancy, diagnosed with IVSD by FECG and confirmed using postnatal echocardiography. RESULTS: One hundred and six patients with IVSD were enrolled; the majority had perimembranous VSD...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28100326/-feeding-difficulty-and-developmental-delay-for-8-months-and-nystagmus-for-4-months-in-an-infant
#8
Jie Zhu, Fei Yu
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#9
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28097709/list-of-reviewers-for-prenatal-diagnosis-january-2016-december-2016
#10
(no author information available yet)
No abstract text is available yet for this article.
January 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28096981/experience-of-mowat-wilson-syndrome-prenatal-diagnosis-for-a-chinese-family
#11
Qian Jiang, Xiaoxiao Zhang, Yinan Ma, Qi Li, Chunhua Zheng, Yuchun Yan, Zhen Zhang, Ping Xiao, Lin Su, Wei Cheng, Hong Pan, Long Li
Mowat-Wilson syndrome (MWS) is a complex developmental disorder. We report the first prenatal diagnosis provided for a family in mainland China after identifying the causal mutation for the proband. Special focus on MWS-related organs during prenatal ultrasound scan is described which is extremely important for genetic counseling of parents.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28095893/clinical-biochemical-and-molecular-characterization-of-korean-patients-with-mucolipidosis-ii-iii-and-successful-prenatal-diagnosis
#12
Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song, Dong-Kyu Jin
BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review. METHODS: Seven patients from six families were enrolled in the study including two prenatal tests using chorionic villi samples...
January 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28087438/dopa-responsive-dystonia-in-chinese-patients-including-a-novel-heterozygous-mutation-in-the-gch1-gene-with-an-intermediate-phenotype-and-one-case-of-prenatal-diagnosis
#13
Wen Zhang, Zhizi Zhou, Xiuzhen Li, Yonglan Huang, Taolin Li, Yunting Lin, Yongxian Shao, Hao Hu, Hongsheng Liu, Li Liu
Dopa-responsive dystonia (DRD) is a rare inherited disorder characterized by childhood-onset dystonia with diurnal fluctuation and dramatic response to levodopa. DRD is caused by the mutations in the genes encoding the enzymes involved in the dopamine and tetrahydrobiopterin (BH4) biosynthesis, including the GTP cyclohydrolase 1 (GCH1) gene and the tyrosine hydroxylase (TH) gene. In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis and molecular mutational analysis in five Chinese patients with DRD...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28079113/congenital-hearing-loss
#14
Anna M H Korver, Richard J H Smith, Guy Van Camp, Mark R Schleiss, Maria A K Bitner-Glindzicz, Lawrence R Lustig, Shin-Ichi Usami, An N Boudewyns
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss...
January 12, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28078382/timing-and-mode-of-delivery-in-prenatally-diagnosed-congenital-heart-disease-an-analysis-of-practices-within-the-university-of-california-fetal-consortium-ucfc
#15
Shabnam Peyvandi, Tina Ahn Thu Thi Nguyen, Myriam Almeida-Jones, Nina Boe, Laila Rhee, Tracy Anton, Mark Sklansky, Maryam Tarsa, Gary Satou, Anita J Moon-Grady
Prenatal diagnosis of critical congenital heart disease (CHD) is associated with decreased morbidity. It is also associated with lower birth weights and earlier gestational age at delivery. The University of California Fetal Consortium (UCfC) comprises five tertiary medical centers, and was created to define treatment practices. We utilized this consortium to assess delivery patterns and outcomes in subjects with prenatal and postnatal diagnosis of CHD. A retrospective cohort study was conducted on maternal-neonatal pairs diagnosed with complex CHD prenatally (n = 186) and postnatally (n = 110) from 2011 to 2013...
January 11, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28076672/prenatal-psychostimulant-and-antidepressant-exposure-and-risk-of-hypertensive-disorders-of-pregnancy
#16
D Jeffrey Newport, Amy L Hostetter, Sarah H Juul, Sunny M Porterfield, Bettina T Knight, Zachary N Stowe
OBJECTIVE: To investigate the association, if any, of prenatal mental illness and psychotropic exposure with the risk of hypertensive disorders of pregnancy (HDP). METHODS: A case-cohort analysis was conducted of 686 pregnant women participating in prospective, longitudinal observational studies in a tertiary referral center between January 1998 and May 2012. Risk estimates were produced using multivariate logistic regression modeling. Medication- and diagnosis-specific data were utilized to conduct post hoc confirmatory analyses of the risk estimates...
November 2016: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28076532/-trajectories-of-women-living-with-hiv-aids-in-brazil-progress-and-permanence-of-the-response-to-the-epidemic
#17
Wilza Vieira Villela, Regina Maria Barbosa
This article analyzes the trajectories of 85 women living with HIV/AIDS in six Brazilian cities: Belém, São Paulo, Ribeirão Preto, Goiânia, Recife and Pelotas, to understand some specific aspects of their experiences before and after diagnosis. It is based on in-depth interviews conducted in 2009 addressing women diagnosed with HIV between 1 and 20 years previously. The results show a profile characterized by limited access to school, health services and labor and a marked presence of violence. The reasons for applying HIV tests vary over time and there is an increase in prenatal testing, although no modifications in the context of the infection are apparent...
January 2017: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/28075019/differential-recruitment-of-brain-regions-during-response-inhibition-in-children-prenatally-exposed-to-alcohol
#18
Vikas N Kodali, Joseph L Jacobson, Nadine M Lindinger, Neil C Dodge, Christopher D Molteno, Ernesta M Meintjes, Sandra W Jacobson
BACKGROUND: Response inhibition is a distinct aspect of executive function that is frequently impaired in children with fetal alcohol spectrum disorders (FASD). We used a Go/NoGo (GNG) task in a functional MRI protocol to investigate differential activation of brain regions in the response inhibition network in children diagnosed with full or partial fetal alcohol syndrome (FAS/PFAS), compared with healthy controls. METHODS: A rapid, event-related task with 120 Go and 60 NoGo trials was used to study children aged 8 to 12 years-8 with FAS/PFAS, 17 controls...
January 11, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28074994/-normoglycemic-diabetic-ketoacidosis-in-pregnancy-report-of-one-case
#19
Margarita Rivas M, Pamela Belmar Z, Pilar Durruty A, Lilian Sanhueza M, Gloria López S
Normoglycemic diabetic ketoacidosis should be suspected in pregnant women presenting nausea, vomiting, abdominal pain and anorexia. We report a 39 years old woman with a 32 weeks pregnancy who sought emergency care due to hyperemesis. She was hospitalized with the following diagnoses: pregnancy hypertension syndrome, gestational diabetes, morbid obesity and poor prenatal control. The evaluation of the feto-placental unit showed perception of fetal movements, non-reactive non-stress baseline record and a biophysical profile of 6/8...
October 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#20
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
January 10, 2017: Japanese Journal of Radiology
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