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https://www.readbyqxmd.com/read/28345111/prenatal-ultrasonic-diagnosis-and-differential-diagnosis-of-isolated-right-aortic-arch-with-mirror-image-branching
#1
Junxue Gao, Jiaan Zhu, Qiuyan Pei, Jianguo Li
PURPOSE: This study sought to evaluate the fetal echocardiography features of isolated right aortic arch (RAA) with mirror-image branching and to improve the rate and accuracy of prenatal diagnosis of this condition. METHODS: We reviewed fetal echocardiograms from all cases of isolated RAA with mirror-image branching diagnosed at our institution between August 2012 and December 2015 and classified these cases into normal and abnormal types of ductus arteriosus based on the course of the arterial duct arch...
March 27, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28343908/-fetal-mri-practices-in-a-university-prenatal-center
#2
A Fievet, B Morel, C Sembély-Taveau, B Thoreau, F Perrotin, D Sirinelli
OBJECTIVES: Fetal MRI is a third intention examination to prenatal diagnosis. If its diagnostic value is well known in many pathologies, its place in the management of pregnancies remains unclear. METHODS: We collected retrospectively demographical, radiological (fetal MRI indications, fetal anatomical region and diagnostic information provided by fetal MRI) and obstetrical data of pregnant patients in university prenatal center during a 5 years' period. RESULTS: Among 2439 patients of the prenatal center, 196 (8%) patients with fetal MRI were included...
March 23, 2017: Gynecol Obstet Fertil Senol
https://www.readbyqxmd.com/read/28343630/de-novo-truncating-mutations-in-the-last-and-penultimate-exons-of-ppm1d-cause-an-intellectual-disability-syndrome
#3
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C Herkert, Elysa J Marco, Marjolein H Willemsen, Tjitske Kleefstra, Mark Hannibal, Joseph T Shieh, Sally Ann Lynch, Frances Flinter, David R FitzPatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury-Ecob, Raphael Bernier, Malin Kvarnung, E A Helena Magnusson, Marja W Wessels, Marjon A van Slegtenhorst, Kristin G Monaghan, Petra de Vries, Joris A Veltman, Christopher J Lord, Lisenka E L M Vissers, Bert B A de Vries
Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted mutations in PPM1D as a possible cause of ID. PPM1D is a type 2C phosphatase that functions as a negative regulator of cellular stress-response pathways by mediating a feedback loop of p38-p53 signaling, thereby contributing to growth inhibition and suppression of stress-induced apoptosis...
March 18, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28343181/a-non-invasive-method-to-rule-out-transient-tachypnea-of-the-newborn-ttn-fetal-pulmonary-artery-acceleration-to-ejection-time-ratio
#4
Barış Büke, Hatice Akkaya
OBJECTIVE: To investigate whether fetal pulmonary artery acceleration to ejection time (PATET) ratio can predict or rule out subsequent diagnosis of transient tachypnea of the newborn (TTN). METHODS: This prospective cohort study included 105 pregnant women in labor, who met the inclusion criteria. Eighteen of these women were removed from the study cohort, because of an inability to acquire sufficient Doppler waveforms and a longer duration of deliveries. According to subsequent diagnosis of TTN in the neonate, the two groups were constituted, TTN+ and TTN-...
March 27, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28343178/fetal-cardiac-tumors-clinical-features-management-and-prognosis
#5
Shi-Min Yuan
Fetal cardiac tumors are rare and usually benign. While echocardiography is a reliable technique for diagnosing fetal cardiac tumors, their definitive diagnosis relies on pathological examination. The strategies used to manage fetal cardiac tumors are challenging. A good clinical result is their complete regression during pregnancy or shortly after birth, as often occurs with cardiac rhabdomyomas. Moreover, the fetal prognosis depends on the nature of the tumors, namely, their location, size, number and associated complications...
March 27, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#6
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
February 28, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28341055/obstetric-care-for-women-with-thalassemia
#7
REVIEW
Terence T Lao
Thalassemia is the commonest monogenic disease and manifests as severe anemia. It is increasingly encountered outside the Mediterranean region, Africa, Middle East, and Southeast Asia because of immigration. Pregnancy, previously uncommon in patients with homozygous β-thalassemia, is encountered increasingly because of improved management and assisted reproduction technology; however, preconceptional problems that include anemia, iron overload, cardiac dysfunction, thromboembolism, alloimmunization, infections, and endocrine and bone disorders, could influence maternal and obstetric outcome...
February 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28340467/the-clinical-use-of-chromosomal-microarray-analysis-in-detection-of-fetal-chromosomal-rearrangements-a-study-from-china-mainland
#8
Yi Wu, Yanlin Wang, Jiong Tao, Xu Han, Xinrong Zhao, Chunmin Liu, Li Gao, Weiwei Cheng
OBJECTIVES: This study aimed to evaluate the detection rate of chromosomal microarray analysis (CMA) in prenatal fetuses compared with conventional karyotype and to assess the additional diagnostic yields of CMA in groups of different indications. STUDY DESIGN: A total of 217 fetuses were divided into seven groups according to different indications. All cases were tested by both CMA and karyotype. The detection rates of CMA and karyotype were evaluated. The increased value of CMA in each group was also calculated...
March 7, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28338787/total-and-fetal-circulating-cell-free-dna-angiogenic-and-antiangiogenic-factors-in-preeclampsia-and-hellp-syndrome
#9
Rocío Muñoz-Hernández, Pablo Medrano-Campillo, Maria L Miranda, Hada C Macher, Jose Manuel Praena-Fernández, Antonio J Vallejo-Vaz, María J Dominguez-Simeon, Rafael Moreno-Luna, Pablo Stiefel
BACKGROUND: Preeclampsia (PE) is a hypertensive disorder of pregnancy characterized by hypertension and proteinuria. The HELLP syndrome is the most severe form of PE. The aim of the present study was to determine different potential biomarkers that may help us perform an early diagnosis of the disease, assess on the severity of the disease, and/or predict maternal or fetal adverse outcomes. METHODS: We measured serum levels of total and fetal circulating cell-free DNA (cfDNA), soluble endoglin, soluble form of vascular endothelial growth factor receptor, and placental growth factor in a healthy control group of pregnant women (n = 26), patients with mild (n = 37) and severe PE (n = 25), and patients with HELLP syndrome (n = 16)...
February 25, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/28336317/lethal-multiple-pterygium-syndrome-a-severe-phenotype-associated-with-a-novel-mutation-in-the-nebulin-gene
#10
Ebtesam Abdalla, Gianina Ravenscroft, Louay Zayed, Sarah J Beecroft, Nigel G Laing
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, hydrops fetalis, pulmonary hypoplasia, occasional arthrogryposis, and pterygia. The pathogenetic mechanisms of fetal akinesia deformation sequence include neuropathy, muscular disorders, neuromuscular junction disorders, maternal myasthenia gravis, restrictive dermopathy and others...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28334461/profile-of-children-diagnosed-with-a-fetal-alcohol-spectrum-disorder-a-retrospective-chart-review
#11
Natasha Reid, Doug Shelton, Judith Warner, Frances O'Callaghan, Sharon Dawe
INTRODUCTION AND AIMS: Fetal alcohol spectrum disorder (FASD) is a significant public health concern, and growing recognition in Australia led to the establishment of a specialist service for young children. The aim of the current study was to report on the diagnostic profile of a group of children who attended the service, to document the extent to which there were comorbid diagnoses and to provide information on the neurocognitive functioning of the children. DESIGN AND METHODS: This study was a retrospective chart review conducted by the diagnostic service...
March 23, 2017: Drug and Alcohol Review
https://www.readbyqxmd.com/read/28332892/outcomes-in-continuing-pregnancies-diagnosed-with-a-severe-fetal-abnormality-and-implication-of-antenatal-neonatology-consultation-a-10-year-retrospective-study
#12
Laura Hostalery, Barthélémy Tosello
PURPOSE: To describe a population choosing to continue their pregnancy despite a severe fetal abnormality and to evaluate the role of antenatal neonatology consultation in perinatal decision-making. METHODS: A 10-year (2005-2015) retrospective descriptive study in a single Multidisciplinary Prenatal Diagnosis Center in South France. A series of pregnancies with severe fetal abnormalities were collected by a person outside the decision making process and/or the child's care...
March 23, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28332212/accuracy-of-sonographic-fetal-weight-estimation-prior-to-delivery-in-a-chinese-han-population
#13
Yao Shen, WeiXiu Zhao, JianHua Lin, FangSun Liu
OBJECTIVE: To compare the sonographic-estimated fetal weights (EFW) calculated with the Hadlock formula and with the Woo formula in a group of Chinese pregnant women. METHODS: We prospectively recruited term pregnancies for sonographic biometric examination. EFWs were calculated according to two formulas and compared with the corresponding birth weight (BW). We also assessed the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of EFW for the diagnosis of small-for-gestational age (SGA) and large-for-gestational age (LGA) neonates...
March 23, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28329054/whole-heart-detailed-and-quantitative-anatomy-myofibre-structure-and-vasculature-from-x-ray-phase-contrast-synchrotron-radiation-based-micro-computed-tomography
#14
Anna Gonzalez-Tendero, Chong Zhang, Vedrana Balicevic, Rubén Cárdenes, Sven Loncaric, Constantine Butakoff, Bruno Paun, Anne Bonnin, Patricia Garcia-Cañadilla, Emma Muñoz-Moreno, Eduard Gratacós, Fatima Crispi, Bart Bijnens
Background: While individual cardiac myocytes only have a limited ability to shorten, the heart efficiently pumps a large volume-fraction thanks to a cell organization in a complex 3D fibre structure. Subclinical subtle cardiac structural remodelling is often present before symptoms arise. Understanding and early detection of these subtle changes is crucial for diagnosis and prevention. Additionally, personalized computational modelling requires knowledge on the multi-scale structure of the whole heart and vessels...
March 15, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28328132/revised-estimates-of-the-risk-of-fetal-loss-following-a-prenatal-diagnosis-of-trisomy-13-or-trisomy-18
#15
Alana Cavadino, Joan K Morris
Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) both have high natural fetal loss rates. The aim of this study was to provide estimates of these fetal loss rates by single gestational week of age using data from the National Down Syndrome Cytogenetic Register. Data from all pregnancies with Edwards or Patau syndrome that were prenatally detected in England and Wales from 2004 to 2014 was analyzed using Kaplan-Meier survival estimates. Pregnancies were entered into the analysis at the time of gestation at diagnosis, and were considered "under observation" until the gestation at outcome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326960/placental-pathologic-features-in-fetomaternal-hemorrhage-detected-by-flow-cytometry
#16
Natasha E Lewis, Laura Marszalek, Linda M Ernst
Background Fetomaternal hemorrhage (FMH) is a poorly understood entity that can have significant clinical effects. Flow cytometry is a reliable and relatively new method for FMH diagnosis. The objective of this study was to correlate placental pathology with FMH detected by flow cytometry. Methods All patients with available placentas and FMH flow cytometric testing performed from 2009 to 2015 were retrospectively reviewed. Cases were defined as ≥0.10% fetal red blood cells (RBCs) in the maternal circulation while controls contained <0...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326958/persistent-left-superior-vena-cava
#17
Vrinda Nair, Kamran Yusuf, Weiming Yu, Hafez AlAwad, Kathy Paul, Essa Al Awad
Persistent left superior vena cava (PLSVC) is a common cardiac anomaly associated with congenital heart diseases. A diagnosis of PLSVC usually warrants a detailed fetal echocardiography. Lesser known associations are the extra cardiac anomalies notably the upper airway and the gastrointestinal tract anomalies. We highlight here the importance of detailed fetal assessment for extra cardiac anomalies in addition to fetal echocardiography in fetuses diagnosed with PLSVC. We hereby present a preterm infant who presented with a triad of PLSVC, laryngeal atresia, and esophageal atresia...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28326564/parental-serum-alkaline-phosphatase-activity-as-an-auxiliary-tool-for-prenatal-diagnosis-of-hypophosphatasia
#18
Yuichiro Takahashi, Hideaki Sawai, Jun Murotsuki, Shuhei Satoh, Takahiro Yamada, Hiromi Hayakawa, Yutaka Kouduma, Masakatsu Sase, Atsushi Watanabe, Osamau Miyazaki, Gen Nishimura
OBJECTIVE: To clarify the usefulness of parental Alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP). METHODS: Maternal (m) and paternal (p) ALP values were measured in 77 cases from A multi-center cohort (fetal-skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis. The screening usefulness of ALP was examined retrospectively...
March 22, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#19
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28326464/meningiomas-in-pregnancy-timing-of-surgery-and-clinical-outcomes-as-observed-in-104-cases-and-establishment-of-a-best-management-strategy
#20
REVIEW
Yosef Laviv, Ahmed Bayoumi, Anand Mahadevan, Brett Young, Myles Boone, Ekkehard M Kasper
BACKGROUND: There is a strong correlation between the level of circulating female sex hormones and the parturient growth of meningiomas. As a result, rapid changes in meningioma size occur during pregnancy, putting both the mother and fetus at risk. Large, symptomatic meningiomas require surgical resection, regardless of the status of pregnancy. However, the preferred timing of such complex intervention is a matter of debate. The rarity of this clinical scenario and the absence of prospective trials make it difficult to reach evidence-based conclusions...
March 22, 2017: Acta Neurochirurgica
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