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Prenatal diagnosis

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https://www.readbyqxmd.com/read/29785970/phenotypic-and-molecular-characteristics-of-androgen-insensitivity-syndrome-patients
#1
Shi-Min Yuan, Ya-Nan Zhang, Juan Du, Wen Li, Chao-Feng Tu, Lan-Lan Meng, Ge Lin, Guang-Xiu Lu, Yue-Qiu Tan
Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS...
May 18, 2018: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29785155/the-volume-of-the-cerebellum-in-the-second-semester-of-gestation
#2
Damiana Vulturar, Alexandru Fărcăşanu, Flaviu Turcu, Dan Boitor, Carmen Crivii
Background and aims: The cerebellum ("little brain"), the largest part of hind brain, lies in the posterior cranial fossa, beneath the occipital lobe and dorsal to the brainstem. It develops over a long period: it is one of the first structures in the brain to begin to differentiate, but one of the last to mature. The use of ultrasonography has significantly improved the evaluation of fetal growth and development and has permitted prenatal diagnosis of a variety of congenital malformations...
2018: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29781742/early-prenatal-diagnosis-of-blakes-pouch-cyst-by-2d-3d-ultrasound-with-cristal-and-realistic-vue-application
#3
Gabriele Tonni, Gianpaolo Grisolia, Paolo Zampriolo, Edward Araujo Júnior, Rodrigo Ruano
INTRODUCTION: Blake's pouch cyst (BPC) represents an abnormal development of the posterior membranous area of the fetal brain. MATERIAL AND METHODS: Two- and three-dimensional ultrasound with Cristal and Realistic Vue were used to characterized the early prenatal diagnosis. RESULTS: At 9 weeks and 5 days a ballooning in the posterior fossa and resulting in an enlarged intracranial translucency (IT) was detected by 3D ultrasound using Cristal Vue in "inversion" mode and Cristal plus Realistic Vue...
May 21, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#4
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29780772/the-trends-and-risk-factors-to-predict-adverse-outcomes-in-gestational-diabetes-mellitus-a-10-year-experience-from-2006-to-2015-in-a-single-tertiary-center
#5
Minji Kim, Juyoung Park, Soo Hyun Kim, Yoo Min Kim, Cheonga Yee, Suk-Joo Choi, Soo-Young Oh, Cheong-Rae Roh
Objective: To investigate the change of maternal characteristics, delivery and neonatal outcomes in gestational diabetes mellitus (GDM) over recent 10 years and to identify the risk factors associated with adverse outcome. Methods: Consecutive GDM patients (n=947) delivered in our institution were included. Research period was arbitrarily divided into 2 periods (period 1: from 2006 to 2010, period 2: from 2011 to 2015). Multiple pregnancies or preexisting diabetes were excluded...
May 2018: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/29780758/congenital-pulmonary-airway-malformation
#6
Wlamir Pestana Ursini, Cesar Cilento Ponce
Congenital pulmonary airway malformation (CPAM) is a developmental malformation of the lower respiratory tract. We report the case of a male newborn diagnosed with cystic lung disease during prenatal ultrasound. A cesarean section was performed at the 32nd gestational week because of premature rupture of the membranes, and soon after the delivery the newborn developed respiratory failure and died. The aim of this study is to report an autopsy case because of its rarity, and to briefly discuss the CPAM subtypes and differential diagnosis of cystic lung diseases of childhood...
April 2018: Autopsy & Case Reports
https://www.readbyqxmd.com/read/29780642/prenatally-diagnosed-isolated-coronary-arterial-fistula-leading-to-severe-complications-at-birth
#7
A Wacker-Gussmann, T Esser, S M Lobmaier, M O Vogt, E Ostermayer, R Oberhoffer
Prenatal diagnosis of a huge coronary artery fistula between the left coronary artery and the right ventricle was made by Doppler echocardiography at 22 weeks of gestation. Progression of the dilated fistula was monitored throughout pregnancy. The size of the fistula increased enormously up to 11 mm. Death occurred at birth. Monitoring of these fetuses is essential as severe complications can occur during pregnancy or at birth.
2018: Case Reports in Cardiology
https://www.readbyqxmd.com/read/29780421/umbilical-cord-hematoma-a-case-report-and-review-of-the-literature
#8
REVIEW
Gennaro Scutiero, Bernardi Giulia, Piergiorgio Iannone, Luigi Nappi, Danila Morano, Pantaleo Greco
Objectives: To deepen the knowledge in obstetrics on a very rare pregnancy complication: umbilical cord hematoma. Methods: A review of the case reports described in the last ten years in the literature was conducted in order to evaluate epidemiology, predisposing factors, potential outcomes, prenatal diagnosis, and clinical management. Results: Spontaneous umbilical cord hematoma is a rare complication of pregnancy which represents a serious cause of fetal morbidity and mortality...
2018: Obstetrics and Gynecology International
https://www.readbyqxmd.com/read/29779396/cultural-models-of-child-disability-perspectives-of-parents-in-malaysia
#9
Jennifer Marshall, Elizabeth Doone, Mindy Price
BACKGROUND: This study examined parents' developmental concerns for their children within the context of systems of care in Malaysia. METHODS: Focus groups and interviews were conducted in peninsular Malaysia and Borneo. RESULTS: Parents' perceptions of developmental delay stemmed from three sources: the cultural, resource, and the social environments. CONCLUSION: There is a need to develop a medical support system in Malaysia that considers a life-course perspective, including prenatal care, screening/diagnosis, and services...
May 20, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29779390/-prenatally-diagnosed-case-of-pallister%C3%A2-killian-syndrome
#10
Zsolt Tidrenczel, Erika P Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, János Demeter
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype...
May 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29777603/-communication-of-the-diagnosis-of-down-syndrome-mother-s-stories
#11
Teresa Vargas Aldecoa, José Luis Martin Conty, Rosa María Conty Serrano, Cristina Fernández Pérez
The article studies the way in which health professionals communicate the diagnosis of Down syndrome to parents. For that the personal stories of the mothers collected in the answers given by them to the open questions of a questionnaire on ″communication of the diagnosis″ are analyzed. The results show the mothers' dissatisfaction with the information received during the prenatal and postnatal diagnosis of Down síndrome.
May 2018: Cuadernos de Bioética: Revista Oficial de la Asociación Española de Bioética y Ética Médica
https://www.readbyqxmd.com/read/29777345/placenta-accreta-and-balloon-catheterization-the-experience-of-a-single-center-and-an-update-of-latest-evidence-of-literature
#12
Ferdinando Antonio Gulino, F Di Guardo, E Zambrotta, L M Di Gregorio, Andrea Miranda, Stella Capriglione, M A Palumbo
PURPOSE: We studied the efficacy of using pre-cesarean delivery (CD) temporary occlusion of internal iliac arteries with balloon catheters in case of placenta previa-accreta in terms of maternal and neonatal outcomes and to test accuracy of ultrasound (US) and magnetic resonance imaging (MRI) for prenatal diagnosis. METHODS: From March 2014 to January 2018, women with an US and/or MRI diagnosis of placenta previa-accreta and a planned delivery were enrolled and divided into two groups: balloon catheterization group (women treated with preoperative catheters and CD) and control group (women candidates to elective CD)...
May 18, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29775869/mathematics-intervention-for-children-with-fetal-alcohol-spectrum-disorder-a-replication-and-extension-of-the-math-interactive-learning-experience-mile-program
#13
Katrina Kully-Martens, Jacqueline Pei, Julie Kable, Claire D Coles, Gail Andrew, Carmen Rasmussen
BACKGROUND: Individuals with fetal alcohol spectrum disorders (FASD) experience deficits in behavior, cognition, and academic functioning resulting from prenatal alcohol exposure (PAE). Although receiving intervention for developmental disabilities is a strong protective factor against negative outcomes in FASD, intervention research in this population is in its infancy. AIMS: The purpose of this study was to replicate and extend a mathematics intervention, the Math Interactive Learning Experience (MILE) program, which was developed in the USA specifically for children with FASD...
May 15, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29771170/cgh-array-and-karyotype-as-complementary-tools-in-prenatal-diagnosis-prenatal-diagnosis-of-a-4q-derivative-chromosome-from-maternal-4q-11q-translocation
#14
Cristina Gonzalez, Miriam Gutierrez Serrano, Carmen Barbancho Lopez, Taida Garcia-Riaño, Vanesa Barea Calero, Rebeca Moreno Perea, Begoña Rodriguez Mogollón, Amelia Queipo Rojas, Ana Garcia Climent, Fernando Cava Valenciano
BACKGROUND: There is controversy whether chromosomal microarray (CMA) can replace karyotyping in prenatal diagnosis. Chromosomal microarray may detect more clinically significant chromosomal imbalances than karyotyping in a shorter time but does not detect inversions, triploidies or low mosaicisms. CASE REPORT: Amniocentesis was performed in the late second trimester based on ultrasound abnormalities. A CMA, obtained at 10 days, demonstrated a terminal deletion in 4q34...
May 17, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29770996/prenatal-diagnosis-of-holoprosencephaly
#15
Youssef A Kousa, Adré J du Plessis, Gilbert Vezina
Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. In vivo diagnosis can be established with prenatal brain imaging and disease severity correlates with extent of abnormally developed brain tissue. Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnosis of holoprosencephaly in utero. Here, we report on the prenatal diagnosis of holoprosencephaly using MRI as part of a diagnostic and management evaluation at a tertiary and quaternary referral center...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29769050/why-do-patients-decline-amniocentesis-analysis-of-factors-influencing-the-decision-to-refuse-invasive-prenatal-testing
#16
Pawel Sadlecki, Marek Grabiec, Pawel Walentowicz, Malgorzata Walentowicz-Sadlecka
BACKGROUND: In recent years, determination of personalized risk for fetal chromosomal anomalies emerged as an important component of prenatal genetic counseling. Women in whom fetal risk for chromosomal aberrations is elevated are offered further testing. The aim of this study was to identify factors that may influence the decision to refuse invasive prenatal testing aimed at determination of fetal karyotype in a group of patients at increased risk of trisomy 21. METHODS: The analysis included 177 patients with singleton pregnancy, whose personalized risk score for trisomy 21 calculated on the basis of the combined test exceeded 1:300...
May 16, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29769041/cortical-atrophy-and-hypofibrinogenemia-due-to-fgg-and-tbcd-mutations-in-a-single-family-a-case-report
#17
Joshi Stephen, Sheela Nampoothiri, K P Vinayan, Dhanya Yesodharan, Preetha Remesh, William A Gahl, May Christine V Malicdan
BACKGROUND: Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, and FGG, encoding the three different polypeptide chains that comprise fibrinogen. Neurodevelopmental abnormalities have not been associated with fibrinogen deficiencies. In this study, we report an unusual patient with a combination of two independently inherited genetic conditions; fibrinogen deficiency and early onset cortical atrophy...
May 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29762671/motor-impairments-correlate-with-social-deficits-and-restricted-neuronal-loss-in-an-environmental-model-of-autism
#18
Tareq Al Sagheer, Obelia Haida, Anais Balbous, Maureen Francheteau, Emmanuel Matas, Pierre-Olivier Fernagut, Mohamed Jaber
Background: Motor impairments are amongst the earliest and most consistent signs of autism spectrum disorders (ASD) but are not used as diagnostic criteria. In addition, the relationship between motor and cognitive impairments and their respective neural substrates remain unknown. Methods: Here, we aimed at determining whether a well-acknowledged animal model of ASD, the valproic acid (VPA) model, displays motor impairments and whether they may correlate with social deficits and neuronal loss within motor brain areas...
May 12, 2018: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29760616/high-frequency-of-primary-hereditary-ichthyoses-in-the-north-east-region-of-cairo-egypt
#19
Nermine El-Sayed, Neveen S Seifeldin, Christine K T Gobrial
Introduction: Inherited ichthyoses are caused by mutations in various genes important for keratinocyte differentiation and epidermal barrier function. Although ichthyoses are rare disorders, they require costly long-term medical management, and thus there is a need for efficient preventive and therapeutic strategies. Aim: We performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors of primary hereditary ichthyoses in Egyptian patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University...
April 2018: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/29757579/isolated-low-grade-prenatally-detected-unilateral-hydronephrosis-do-we-need-long-term-follow-up
#20
Osama M Sarhan, Ahmed El Helaly, Abdulhakim Al Otay, Mustafa Al Ghanbar, Ziad Nakshabandi
PURPOSE: To assess the need for postnatal evaluation and the medium term outcome in patients with isolated unilateral low grade prenatally detected hydronephrosis. MATERIALS AND METHODS: We prospectively selected 424 patients (690 kidney units) with a prenatal diagnosis of urinary tract dilatation between 2010 and 2013. We included only those patients with isolated unilateral low-grade hydronephrosis who underwent at least 2 postnatal ultrasound examinations. The Society for Fetal Urology (SFU) grading system was utilized for assessment of the hydronephrosis...
April 30, 2018: International Braz J Urol: Official Journal of the Brazilian Society of Urology
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