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Fetal diagnosis

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https://www.readbyqxmd.com/read/29049852/parental-experiences-of-prenatal-whole-exome-sequencing-wes-in-cases-of-ultrasound-diagnosed-fetal-structural-anomaly
#1
Elizabeth Quinlan-Jones, Sarah C Hillman, Mark D Kilby, Sheila M Greenfield
OBJECTIVE: To explore parental experiences of WES for prenatal diagnosis, and ascertain what influenced their decision-making to undergo testing. METHOD: Twelve women comprised a purposeful sample in a series of semi-structured interviews. All had received a fetal anomaly diagnosis on ultrasound. A topic guide was used, and transcripts were thematically analysed to elicit key themes. RESULTS: Five main themes (parental experiences of prenatal WES, need for information, consent/reasons for prenatal WES, sources of support for prenatal WES, and return of WES findings to families) emerged, some with multiple sub-themes...
October 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29049312/impact-of-annotation-error-in-%C3%AE-globin-genes-on-molecular-diagnosis
#2
J Francis Borgio
BACKGROUND: Recent studies on the variants in duplicated human alpha globin genes (HBA2 and HBA1) actively target the α-globin gene as molecular modulators for the treatment of β-thalassemia major. Identification of the exact position of variant in HBA1, HBA2 or its patchworks is mandatory to support the therapeutic aims in β-thalassemia major, by identifying specific modulators for the reactivation of fetal hemoglobin production. Hence, accurate identification of the variants in α-globin genes is crucial for the proper diagnosis, treatment and genetic counseling...
2017: PloS One
https://www.readbyqxmd.com/read/29048133/vasa-previa-prenatal-diagnosis-and-outcomes-thirty-five-cases-from-a-single-maternal-fetal-medicine-practice
#3
Ankita Kulkarni, Jennifer Powel, Michael Aziz, Leena Shah, Susan Lashley, Carlos Benito, Yinka Oyelese
OBJECTIVES: To assess the accuracy and effectiveness of routine screening for vasa previa, to describe our experience, and to assess factors that contribute to missed cases of vasa previa. METHODS: A retrospective descriptive study of all cases of vasa previa from a single maternal-fetal medicine service between 2009 and 2017 was performed. Ultrasound findings and obstetric and neonatal outcomes were reviewed and analyzed. RESULTS: Thirty-five cases of vasa previa were identified...
October 19, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29044511/second-trimester-levels-of-fetoplacental-hormones-among-women-with-placenta-accreta-spectrum-disorders
#4
Marina Pekar-Zlotin, Yaakov Melcer, Ron Maymon, Eric Jauniaux
Human chorionic gonadotropin (hCG) and its free β-subunit (β-hCG) are exclusively synthesized by the villous trophoblast. α-Fetoprotein (AFP) is synthesized by the secondary yolk sac and fetal liver. Levels of both hormones differ between women with placenta accreta spectrum (PAS) disorders and those with non-accreta previa.(1,2) Second-trimester maternal serum levels of AFP are increased,(1) and first-trimester serum β-hCG is decreased in women with PAS,(2) compared with those with non-accreta placenta previa...
October 17, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29043688/-correlation-between-prenatal-ultrasound-and-postnatal-diagnosis-of-birth-defects
#5
F J Murcia Pascual, L Delgado Cotán, V Jiménez Crespo, F Vázquez Rueda, E Rodríguez Cano, M Miño Mora, R M Paredes Esteban
OBJECTIVES: To assess the accuracy of prenatal ultrasound diagnosis and to analyze the protocol applied for congenital defects (CD) in our environment. METHODS: Descriptive study of prenatally diagnosed CD in our area between 2004-2013. Includes: total births, fetal medicine referrals (number of consultations, ultrasound, invasive techniques) anatomical and chromosomal abnormalities, confirmed diagnoses, necropsies performed, false diagnoses, absence of prenatal diagnoses, and number and reasons for abortions (VIEs)...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29042802/utilization-of-fetal-fibronectin-testing-and-pregnancy-outcomes-among-women-with-symptoms-of-preterm-labor
#6
Sean C Blackwell, Erin M Sullivan, Allison A Petrilla, Xian Shen, Kathleen A Troeger, James D Byrne
OBJECTIVES: To identify pregnant health plan members triaged through the emergency department (ED), including labor and delivery (ELD) units, with symptoms of preterm labor (PTL), and evaluate the use of fetal fibronectin (fFN) testing; and to calculate the rate of hospitalization and timing of delivery in relation to the ED visit. METHODS: Retrospective cohort study using Medical Outcomes Research for Effectiveness and Economics Registry(®), a national multipayer claims database...
2017: ClinicoEconomics and Outcomes Research: CEOR
https://www.readbyqxmd.com/read/29042787/perinatal-and-follow-up-outcome-study-of-fetal-anomalies-with-multidisciplinary-consultation
#7
Genxia Li, Na Yang, Mingkun Xie, Yajuan Xu, Ning Han, Qi Chen, Hezhou Li, Yueli Wu, Chunhua Cheng, Yuhong Wang, Man Zhou, Bo Xia, Shuhua Guo, Shihong Cui
SYNOPSIS: The establishment of a multidisciplinary consultation system is necessary for the diagnosis of complicated fetal anomalies. PURPOSE: We aimed to investigate the incidences of different types of fetal anomalies and the influence of multidisciplinary consultation on fetal prognosis. PATIENTS AND METHODS: Multidisciplinary specialists include obstetricians, pediatricians, pediatric surgeons, and experts of ultrasound department and genetic counseling...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29039177/-the-involvement-of-galectin-1-in-implantation-and-pregnancy-maintenance-at-the-maternal-fetal-interface
#8
Minyue Tang, Yimin Zhu
As a member of galectins family, galectin-1(Gal-1)is widely expressed in tissues and cells, and participates in a variety of physiological and pathological processes, such as cell adhesion, proliferation, apoptosis and inflammatory reaction. Recently, it has been found that Gal-1 is highly expressed at the maternal-fetal interface and plays important roles in trophoblast cell proliferation, differentiation and invasion, endometrial receptivity, placental angiogenesis and maternal-fetal immune tolerance. In this review, we outline the expression of Gal-1 at the maternal-fetal interface and the involvement of Gal-1 in embryo implantation and pregnancy maintenance, to provide novel insights for the early diagnosis, prognostic assessment and treatment of early pregnancy loss and pregnancy-related diseases...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29039169/-prenatal-diagnosis-of-joubert-syndrome-one-case-report-and-literature-review
#9
Hong Wen, Lu Chen, Kai Yan, Jing He
A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed 'molar tooth sign' in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and c.4598T > C), which might be the cause of the disease.
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29039168/-maternal-serum-alpha-fetoprotein-and-free-%C3%AE-hcg-of-second-trimester-for-screening-of-fetal-gastroschisis-and-omphalocele
#10
Yiming Chen, Wen Zhang, Sha Lu, Jin Mei, Hao Wang, Shan Wang, Linyuan Gu, Lidan Zhang, Xuelian Chu
OBJECTIVE: To assess the detection of maternal serum alpha fetoprotein (MSAFP) and free beta-HCG levels of second trimester for screening of fetal gastroschisis and omphalocele. METHODS: Clinical data of 622 639 pregnant women from 5 prenatal screening centers in Hangzhou during October 2007 and September 2016 were analyzed retrospectively. Thirty cases of gastroschisis and 30 cases of omphalocele diagnosed by ultrasonography and postmortem findings were enrolled in the study and 116 cases of pregnant women with normal fetal development during the same period were selected as control group...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29037557/prenatal-diagnosis-of-isochromosome-20q-in-a-fetus-with-vertebral-anomaly-and-rocker-bottom-feet
#11
Aline Receveur, Sophie Brisset, Jelena Martinovic, Anne Bazin, Laurence Lhomann, Claire Colmant, Dominique Pineau, Valérie Gautier, Lucie Tosca, Gérard Tachdjian
OBJECTIVE: Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We describe a new prenatal case of i(20q) with fetal malformations. MATERIALS AND METHODS: We also observed a discrepancy between uncultured and cultured amniotic fluid cells by using conventional cytogenetic, fluorescence in situ hybridization and array-SNP analysis...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037551/ductus-venosus-doppler-and-the-postnatal-outcomes-of-growth-restricted-fetuses-with-absent-end-diastolic-blood-flow-in-the-umbilical-arteries
#12
Nobuhiro Hidaka, Yuka Sato, Saki Kido, Yasuyuki Fujita, Kiyoko Kato
OBJECTIVE: We aimed to evaluate the outcomes of growth-restricted fetuses with absent end-diastolic velocity in the umbilical arteries (UA-AEDV), and investigate the relationship between Doppler flow velocity waveforms in the ductus venosus (DV) and the clinical features. MATERIALS AND METHODS: This was a retrospective study of growth-restricted fetuses diagnosed with UA-AEDV delivered at our institution between 2013 and 2015. The time from diagnosis of UA-AEDV to delivery, postnatal survival, and developmental prognoses were the primary outcomes...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037549/long-term-outcome-of-pregnancy-complicating-with-severe-aplastic-anemia-under-supportive-care
#13
Kuan-Ju Chen, Yao-Lung Chang, Horng Chang, Shen-Yuan Su, Hsiu-Huei Peng, Shuenn-Dyh Chang, An-Shine Chao
OBJECTIVES: Pregnancy associated with aplastic anemia (AA) is a rare and heterogeneous disorder. We aimed to identify and evaluate the maternal and pregnant outcomes of pregnancy-associated severe AA treated with supportive care. MATERIALS AND METHODS: A 25-year retrospective study was conducted at in a single center between 1990 and 2014 with pregnancy associated severe AA. In addition, relevant published cases of antenatally diagnosed pregnancy-associated severe AA after 1990 were identified by PubMed...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037170/multidisciplinary-consensus-on-screening-for-diagnosis-and-management-of-fetal-growth-restriction-in-the-netherlands
#14
Viki Verfaille, Ank de Jonge, Lidwine Mokkink, Myrte Westerneng, Henriëtte van der Horst, Petra Jellema, Arie Franx
BACKGROUND: Screening for, diagnosis and management of intrauterine growth restriction (IUGR) is often performed in multidisciplinary collaboration. However, variation in screening methods, diagnosis and management of IUGR may lead to confusion. In the Netherlands two monodisciplinary guidelines on IUGR do not fully align. To facilitate effective collaboration between different professionals in perinatal care, we undertook a Delphi study with uniform recommendations as our primary result, focusing on issues that are not aligned or for which specifications are lacking in the current guidelines...
October 16, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29037169/left-ventricular-non-compaction-cardiomyopathy-with-coronary-artery-anomaly-complicated-by-ventricular-tachycardia
#15
Gustav Mattsson, Abdullah Baroudi, Hoshmand Tawfiq, Peter Magnusson
BACKGROUND: Non-compaction cardiomyopathy (NCCM) is characterized by prominent trabeculations, deep intertrabecular recesses, and a thick non-compacted endocardial myocardium. Prevalence in the general population remains unclear, but echocardiography series report 0.05%. During fetal development muscle fibers and trabeculae should compact into a solid myocardium and when this fails, NCCM occurs. The condition is genetic, even though acquired forms have been described. Worsening myocardial dysfunction may lead to heart failure and/or arrhythmias...
October 16, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29035757/pulmonary-hypertension-associated-with-bronchopulmonary-dysplasia-in-preterm-infants
#16
REVIEW
Christine B Bui, Merrin A Pang, Arvind Sehgal, Christiane Theda, Jason C Lao, Philip J Berger, Marcel F Nold, Claudia A Nold-Petry
Bronchopulmonary dysplasia (BPD) and BPD-associated pulmonary hypertension (BPD-PH) are chronic inflammatory cardiopulmonary diseases with devastating short- and long-term consequences for infants born prematurely. The immature lungs of preterm infants are ill-prepared to achieve sufficient gas exchange, thus usually necessitating immediate commencement of respiratory support and oxygen supplementation. These therapies are life-saving, but they exacerbate the tissue damage that is inevitably inflicted on a preterm lung forced to perform gas exchange...
October 2, 2017: Journal of Reproductive Immunology
https://www.readbyqxmd.com/read/29034909/a-universal-and-enzyme-free-immunoassay-platform-for-biomarker-detection-based-on-gold-nanoparticle-enumeration-with-a-dark-field-microscope
#17
Xi Wu, Tian Li, Guangyu Tao, Ruoyun Lin, Xiaojing Pei, Feng Liu, Na Li
Developing an enzyme-free, non-amplification strategy for biomarker detection with universality and easy implementation is of central importance in clinical diagnosis and therapeutic monitoring. Herein, we report for the first time a universal and enzyme-free magnetic bead-based sandwich-format immunoassay platform for biomarker detection by combining secondary antibody functionalized AuNPs and automatic AuNP counting readout. For the prostate specific antigen (PSA), the detection limit is found to be 1 ng mL(-1), and the spike recoveries (n = 3) with 10% fetal bovine serum are 113...
October 16, 2017: Analyst
https://www.readbyqxmd.com/read/29032783/targeted-metabolomics-new-insights-into-pathobiology-of-retained-placenta-in-dairy-cows-and-potential-risk-biomarkers
#18
E Dervishi, G Zhang, R Mandal, D S Wishart, B N Ametaj
A targeted quantitative metabolomics approach was used to study temporal changes of serum metabolites in cows that normally released their fetal membranes and those that retained the placenta. We identified and measured serum concentrations of 128 metabolites including amino acids, acylcarnitines, biogenic amines, glycerophospholipids, sphingolipids and hexose at -8 and -4 weeks before parturition, during the week of retained placenta (RP) diagnosis, and at +4 and +8 weeks after parturition. In addition, we aimed at identifying metabolite signatures of pre-RP in the serum that might be used as predictive biomarkers for risk of developing RP in dairy cows...
October 16, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29032069/woman-s-pre-conception-evaluation-genetic-and-fetal-risk-considerations-for-counselling-and-informed-choice
#19
REVIEW
R Douglas Wilson
OBJECTIVE: To inform reproductive and other health care providers about genetic and fetal risk information to consider during a woman/couples' pre-conception evaluation, including considerations for genetic risk assessment, genetic screening, or testing to allow for improved counselling and informed choice. OPTIONS: This genetic information can be used for patient education, planning, and possible pre-conception and/or prenatal testing. OUTCOMES: This information may allow improved risk assessment for pre-conception counselling for individual patients and their families...
October 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29031022/fetal-analysis-with-invasive-method-fa-i-and-fetal-analysis-with-non-invasive-method-fa-ni-replacing-current-deceptively-imprecise-clinical-nomenclature
#20
Frank A Chervenak, Laurence B McCullough, Joachim Dudenhausen
There is a problem with the current nomenclature of prenatal evaluation. The current nomenclature of "prenatal testing" and "prenatal screening" - along with their subsets of "ultrasound testing," "ultrasound screening," "non-invasive prenatal testing," "non-invasive prenatal screening," and "prenatal diagnosis" - has become so imprecise that clinical misinterpretation and distortion of the informed consent process are increasingly difficult to avoid. To remedy this problem, we propose a new, precise nomenclature: "fetal analysis with invasive method" (FA-I) and "fetal analysis with non-invasive method," (FA-NI) using various techniques...
October 14, 2017: Journal of Perinatal Medicine
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