keyword
MENU ▼
Read by QxMD icon Read
search

Prenatal diagnosis

keyword
https://www.readbyqxmd.com/read/28641300/prenatal-diagnosis-of-dextrocardia-with-complex-congenital-heart-disease-using-fetal-intelligent-navigation-echocardiography-fine-and-a-literature-review
#1
Lami Yeo, Suchaya Luewan, Dor Markush, Navleen Gill, Roberto Romero
Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage of four-dimensional sonography with spatiotemporal image correlation (STIC) is that this modality can facilitate fetal cardiac examination. A novel method known as fetal intelligent navigation echocardiography (FINE) allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying intelligent navigation technology to STIC volume datasets...
June 23, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28636882/foxn1-italian-founder-mutation-in-indian-family-implications-in-prenatal-diagnosis
#2
Akella Radha Rama Devi, Nagesh Narayan Panday, Shaik Mohammad Naushad
The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenital alopecia and nail dystrophy within an Italian community. This is the first report of FOXN1 p.R255X mutation from India, outside this endogamous Italian community...
June 18, 2017: Gene
https://www.readbyqxmd.com/read/28635537/prenatal-diagnosis-tests-and-women-s-risk-perception-a-cross-sectional-study
#3
Simona Fumagalli, Laura Antolini, Antonella Nespoli, Patrizia Vergani, Enrico Ferrazzi, Sara Oggioni, Anna Locatelli
OBJECTIVE: To investigate women's decision to undergo non-invasive and/or invasive tests for prenatal diagnosis depending on the procedure-related risk and the risk of carrying a foetus with Down syndrome (DS). Both risks are rated in terms of numerical relevance and acceptability. METHOD: A sample of 448 consecutive women with low-risk pregnancies were interviewed to collect social and clinical variables and to determine their perceptions of the risks of invasive procedure-related miscarriage and carrying a foetus with DS...
February 22, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#4
Raj Muhammad, Muhammad Shakeel, Shoaib U Rehman, Muhammad A Lodhi
β-Thalassemia (β-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing β-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan...
June 21, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28634753/fetal-cephaloceles-prenatal-diagnosis-and-course-of-pregnancy-in-65-consecutive-cases
#5
Jan Weichert, Friederike Hoellen, Martin Krapp, Ute Germer, Roland Axt-Fliedner, Andrea Kempe, Annegret Geipel, Christoph Berg, Ulrich Gembruch
PURPOSE: To scrutinize the characteristics of all cases with antenatally established diagnosis of cephalocele in two tertiary referral centers. METHODS: We retrospectively reviewed 65 cases diagnosed with cephaloceles and tabulated sonographic findings and autopsy recordings as well as medical charts of all survivors in terms of clinical outcome. RESULTS: The case notes of 65 fetuses were available for final analysis. Gestational age (GA) at diagnosis ranged from 10...
June 20, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28630649/a-complete-duplication-of-x-chromosome-resulting-in-a-tricentric-isochromosome-originated-by-centromere-repositioning
#6
N Villa, D Conconi, D Gambel Benussi, G Tornese, F Crosti, E Sala, L Dalprà, V Pecile
BACKGROUND: Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosome and they influence the female reproductive capacity or are associated to Turner syndrome in the presence of monosomy X cell line. CASE PRESENTATION: We report a case of chromosome X complex rearrangement found in a prenatal diagnosis. The fetal karyotype showed a mosaicism with a 45,X cell line and a 46 chromosomes second line with a big marker, instead of a sex chromosome...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28629418/prenatal-brain-disruption-in-isolated-sulfite-oxidase-deficiency
#7
Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus diagnosed with ISOD. RESULTS: We report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth...
June 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28629280/absent-ductus-venosus-case-series-from-two-tertiary-centres
#8
Giuseppe Maria Maruotti, Gabriele Saccone, M D Andrea Ciardulli, Laura Letizia Mazzarelli, Vincenzo Berghella, M D Pasquale Martinelli
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations. METHODS: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes. RESULTS: A total of six cases with prenatally diagnosed ADV were identified...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28626857/fetal-intracranial-hemorrhage-role-of-fetal-mri
#9
Laura Sanapo, Matthew T Whitehead, Dorothy I Bulas, Homa K Ahmadzia, Lindsay Pesacreta, Taeun Chang, Adre du Plessis
OBJECTIVE: To date, prenatal diagnosis of intracranial hemorrhage (ICH) is mainly based on ultrasound (US) findings rather than magnetic resonance imaging (MRI). We aimed to: investigate the role of MRI in the diagnosis of fetal ICH among pregnancies referred to fetal MRI and to characterize the topography of fetal ICH using MRI. METHODS: We retrospectively identified fetal ICH cases diagnosed by MRI from 2008-2015, and reviewed their prenatal and postnatal medical records...
June 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28624828/unique-imaging-features-enabling-the-prenatal-diagnosis-of-developmental-venous-anomalies-a-persistent-echogenic-brain-lesion-drained-by-a-collecting-vein-in-contrast-with-normal-brain-parenchyma-on-mri
#10
Karina Krajden Haratz, Alon Peled, Boris Weizman, Liat Gindes, Mordechai Tamarkin, Dorit Lev, Dvora Kidron, Liat Ben-Sira, Gustavo Malinger, Tally Lerman-Sagie, Zvi Leibovitz
OBJECTIVE: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA). METHODS: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed. RESULTS: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals...
June 17, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28624747/who-is-most-affected-by-prenatal-alcohol-exposure-boys-or-girls
#11
Philip A May, Barbara Tabachnick, Julie M Hasken, Anna-Susan Marais, Marlene M de Vries, Ronel Barnard, Belinda Joubert, Marise Cloete, Isobel Botha, Wendy O Kalberg, David Buckley, Zachary R Burroughs, Heidre Bezuidenhout, Luther K Robinson, Melanie A Manning, Colleen M Adnams, Soraya Seedat, Charles D H Parry, H Eugene Hoyme
OBJECTIVE: To examine outcomes among boys and girls that are associated with prenatal alcohol exposure. METHODS: Boys and girls with fetal alcohol spectrum disorders (FASD) and randomly-selected controls were compared on a variety of physical and neurobehavioral traits. RESULTS: Sex ratios indicated that heavy maternal binge drinking may have significantly diminished viability to birth and survival of boys postpartum more than girls by age seven...
June 15, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28624163/simultaneous-congenital-mucocoele-of-the-blandin-n%C3%A3-hn-glands-and-teratoma-of-the-tongue-early-management-and-follow-up-at-one-year
#12
Nathalie Pham Dang, Anne-Claire Melka, Hélène Laurichesse Delmas, Isabelle Barthélémy
Mucocoele of the Blandin-Nühn glands and teratomas of the tongue are rare in newborn babies. We present what is to our knowledge the first documented case of both at the same time, and describe management and follow up over 12 months after the birth. Prenatal diagnosis defined the treatment plan during delivery to establish an airway for the baby promptly. A normal delivery is possible if the cyst is anterior, and can be punctured during delivery. Delayed excision reduces the possibility of oedema and obstruction of the airway, ensures complete resection, avoids recurrence, and confirms the diagnosis...
June 14, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28623846/sonocad-a-software-to-solve-the-dilemma-of-the-prenatal-diagnosis-of-fetal-syndromes
#13
Mahmoud Abdelnaby, Abdulmeneam Fawzi, Manal Swelem, Hisham Elgammal, Hamdy Elgammal
OBJECTIVE: The aim of this work is to develop an efficient, user friendly, time saving computer software program specified with prenatal diagnosis, based solely on ultrasound findings provided by the sonographer. MATERIALS AND METHOD: SonoCAD (Sonographyic Computer Assisted Diagnosis) program was developed in 4 phases. Phase I, data gathering phase. Phase II the software development phase in which the source code of the software was developed. Phase III, system testing phase, was divided into 2 steps...
June 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28623811/residential-exposure-to-pesticides-as-risk-factor-for-childhood-and-young-adult-brain-tumors-a-systematic-review-and-meta-analysis
#14
REVIEW
Geneviève Van Maele-Fabry, Laurence Gamet-Payrastre, Dominique Lison
BACKGROUND: Accumulating evidence suggests a positive association between exposure to non-agricultural pesticides and childhood brain tumors (CBT). OBJECTIVE: (1) To conduct a systematic review and meta-analysis of published studies on the association between residential/household/domestic exposure to pesticides and childhood brain tumors. (2) To clarify variables that could impact the results. METHODS: Publications in English were identified from a MEDLINE search through 28 February 2017 and from the reference list of identified publications...
June 14, 2017: Environment International
https://www.readbyqxmd.com/read/28622418/severe-apparently-isolated-fetal-ventriculomegaly-and-neurodevelopmental-outcome
#15
Mathilde Letouzey, Alexandra Chadie, Marie Brasseur-Daudruy, François Proust, Eric Verspyck, Pascal Boileau, Stéphane Marret
OBJECTIVE: To assess the neurodevelopmental outcome of children with a prenatal diagnosis of apparently isolated severe ventriculomegaly (SVM). METHOD: Retrospective cohort study from 1994 to 2011. We included fetuses with unilateral or bilateral ventriculomegaly equal to or greater than 15 mm at prenatal ultrasound and confirmed by Magnetic Resonance Imaging, whose parents chose continuation of pregnancy past 22 weeks, and with no associated findings at diagnosis (i...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28621803/absent-pulmonary-valve-syndrome-diagnosis-associations-and-outcome-in-71-prenatally-diagnosed-cases
#16
Roland Axt-Fliedner, Andrii Kurkevych, Maciej Slodki, Maria Respondek-Liberska, Katarzyna Zych-Krekora, Rüdiger Stressig, Jochen Ritgen, Guiseppe Rizzo, Martin Krapp, Luc de Catte, Gunther Mielke, Stephan Bosselmann, Mathias Meyer-Wittkopf, Andrea Kawecki, Aline Wolter, Marios Mamalis, Christian Enzensberger
OBJECTIVE: To analyze the spectrum of prenatally diagnosed absent pulmonary valve syndrome (APVS) and the outcome from diagnosis onwards. Fetuses with APVS and tetralogy of Fallot (TOF/APVS) and with APVS and intact ventricular septum (APVS/IVS) were included. METHOD: Multicenter retrospective study of the International Prenatal Cardiology Collaboration Group (IPCCG). Clinical and echocardiographic databases of nine referral centers were reviewed from 2012-2016...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28621052/10p15-3p13-duplication-inherited-from-paternal-balance-translocation-46-xy-t-5-10-q35-1-p13-identified-on-non-invasive-prenatal-testing
#17
Jin Mei, Hao Wang, Liyong Zhan
Balanced reciprocal translocations are relatively common human genetic abnormalities that involve the exchange of the terminal segments between different chromosomes and have an approximately 5-80% chance of generating an embryo with chromosomal abnormalities. Non-invasive prenatal testing (NIPT) has been increasingly used in clinical practice to detect fetal trisomies 21, 18 and 13 with a sensitivity and specificity of up to 99%. In this report, we describe a duplication on chromosome 10 and a deletion on chromosome 5 that were first detected on NIPT...
June 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28620499/intrauterine-death-following-intraamniotic-triiodothyronine-and-thyroxine-therapy-for-fetal-goitrous-hypothyroidism-associated-with-polyhydramnios-and-caused-by-a-thyroglobulin-mutation
#18
Pradeep Vasudevan, Corrina Powell, Adeline K Nicholas, Ian Scudamore, James Greening, Soo-Mi Park, Nadia Schoenmakers
In the absence of maternal thyroid disease or iodine deficiency, fetal goitre is rare and usually attributable to dyshormonogenesis, for which genetic ascertainment is not always undertaken in the UK. Mechanical complications include tracheal and oesophageal compression with resultant polyhydramnios, malpresentation at delivery and neonatal respiratory distress. We report an Indian kindred in which the proband (first-born son) had congenital hypothyroidism (CH) without obvious neonatal goitre. His mother's second pregnancy was complicated by fetal hypothyroid goitre and polyhydramnios, prompting amniotic fluid drainage and intraamniotic therapy (with liothyronine, T3 and levothyroxine, T4)...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28617034/fetal-cells-in-maternal-blood-for-prenatal-diagnosis-a-love-story-rekindled
#19
Ripudaman Singh, Lotte Hatt, Katarina Ravn, Ida Vogel, Olav Bjørn Petersen, Niels Uldbjerg, Palle Schelde
No abstract text is available yet for this article.
June 15, 2017: Biomarkers in Medicine
https://www.readbyqxmd.com/read/28614992/preimplantation-genetic-screening
#20
Joyce C Harper
Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates...
January 1, 2017: Journal of Medical Screening
keyword
keyword
1413
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"