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Prenatal diagnosis

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https://www.readbyqxmd.com/read/28737293/reduced-prenatal-weight-gain-and-or-augmented-postnatal-weight-gain-precedes-polycystic-ovary-syndrome-in-adolescent-girls
#1
Francis de Zegher, Thomas Reinehr, Rita Malpique, Feyza Darendeliler, Abel López-Bermejo, Lourdes Ibáñez
OBJECTIVE: Hepato-visceral fat excess is a feature of polycystic ovary syndrome (PCOS). Risk factors for such excess include low prenatal weight gain and high postnatal weight gain. This study examined whether adolescent PCOS was preceded by a relatively low birth weight and/or a relatively high BMI at diagnosis. METHODS: Study participants included 467 girls with PCOS (298 without obesity and 169 with obesity), diagnosed, respectively, in Spain and Germany; 87 healthy girls were controls...
July 24, 2017: Obesity
https://www.readbyqxmd.com/read/28737191/-stress-in-parents-of-hospitalized-newborns-in-a-neonatal-intensive-care-unit
#2
Elisa Palma I, Fernanda Von Wussow K, Ignacia Morales B, Javier Cifuentes R, Sergio Ambiado T
The birth of a child that requires hospitalization in a Neonatal Intensive Care Unit (NICU) can be very stressful for parents. OBJECTIVE: To determine the stress level of parents of newborns (NB) hospitalized in a level III NICU in Santiago, and its association with clinical and sociodemographic variables. PATIENTS AND METHOD: Descriptive cross-sectional study. 373 admissions were evaluated. The sampling was non-probabilistic and included parents of RN admitted to the UPCN between 7 and 21 days of hospitalization...
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28735870/evaluation-of-the-fetal-cerebellum-by-magnetic-resonance-imaging
#3
R Llorens Salvador, A Viegas Sainz, A Montoya Filardi, G Montoliu Fornas, F Menor Serrano
Obstetric protocols dictate that the fetal cerebellum should always be assessed during sonograms during pregnancy. For various reasons, including technical limitations or inconclusive sonographic findings, suspicion of cerebellar abnormalities is one of the most common indications for prenatal magnetic resonance imaging (MRI). Although sonography is the imaging technique of choice to assess the cerebellum, MRI shows the anatomy of the posterior fossa and abnormalities in the development of the fetal cerebellum in greater detail and thus enables a more accurate prenatal diagnosis...
July 20, 2017: Radiología
https://www.readbyqxmd.com/read/28734895/a-sensitive-and-convenient-method-for-clinical-detection-of-non-syndromic-hearing-loss-associated-common-mutations
#4
Er-Feng Yuan, Wei Xia, Jing-Tao Huang, Ling Hu, Xing Liao, Xiang Dai, Song-Mei Liu
BACKGROUND: The majority of non-syndromic hearing loss (NSHL) patients result from causative mutations in GJB2, SLC26A4 and mitochondrial 12S rRNA genes. Accurate detection of these genetic mutations is increasingly recognized for its clinical significance to reduce incidence and guide individual treatment of NSHL. Current methods for clinical practice are labor intensive, expensive or of low sensitivity. METHODS: Genomic DNA from 7 newborns not passing the hearing screening and 94 newborns passing the hearing screening were analyzed for the common mutations using high resolution melting analysis (HRMA) and Sanger sequencing...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28733530/presence-of-embryonic-dna-in-culture-medium
#5
Linlin Yang, Qiaoying Lv, Wei Chen, Jian Sun, Yu Wu, Yiying Wang, Xiong Chen, Xiaojun Chen, Zhenbo Zhang
Preimplantation genetic diagnosis (PGD) has successfully assisted couples with genetic diseases to conceive healthy babies during the past decades. However, biopsy of the blastomere has potential lesion to the embryos which commonly results in abortion. Thus, a noninvasive PGD is needed. In the past, the presence of genetic materials in maternal plasma or serum has triggered a great innovation of noninvasive prenatal diagnosis. Nevertheless, it is not clear whether embryonic DNA is also present in embryonic culture medium...
June 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#6
Maria Şorop-Florea, Raluca Niculina Ciurea, Mihai Ioana, Alex Emilian Stepan, George Alin Stoica, Florentina Tănase, Maria Cristina Comănescu, Marius Bogdan Novac, Ioana Drăgan, Ciprian LaurenŢiu Pătru, Roxana Cristina Drăguşin, George Lucian Zorilă, Ovidiu Marian Cărbunaru, NuŢi Daniela Oprescu, Iuliana Ceauşu, Simona Vlădăreanu, Ştefania Tudorache, Dominic Gabriel Iliescu
Perinatal autopsy remains the gold-standard procedure used to establish the fetal, neonatal or infant abnormalities. Progressively, perinatal pathology has become a specialized field with important roles of audit for fetal prenatal diagnostic tools, in parents counseling regarding future pregnancies, in scientific research, for epidemiology of congenital abnormalities and teaching. The differences between prenatal ultrasound and autopsy reports represent a strong argument for the autopsy examination following termination of pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28729336/prenatal-diagnosis-by-droplet-digital-pcr
#7
Margaret V Ragni
No abstract text is available yet for this article.
July 20, 2017: Blood
https://www.readbyqxmd.com/read/28729313/fetal-doppler-velocimetry-and-bronchopulmonary-dysplasia-risk-among-growth-restricted-preterm-infants-an-observational-study
#8
Alessandra Lio, Paolo Rosati, Roberta Pastorino, Francesco Cota, Milena Tana, Chiara Tirone, Claudia Aurilia, Cinzia Ricci, Alessandro Gambacorta, Angela Paladini, Ilenia Mappa, Silvia Buongiorno, Gian Franco Zannoni, Costantino Romagnoli, Giovanni Vento
OBJECTIVE: To investigate whether fetal growth restriction (FGR) diagnosis, based on pathological prenatal fetal Doppler velocimetry, is associated with bronchopulmonary dysplasia (BPD) independently of being small for gestational age (SGA) per se at birth among very preterm infants. DESIGN: Prospective, observational study. FGR was defined as failing fetal growth in utero and fetal Doppler velocimetry abnormalities. SETTING: Policlinico Universitario Agostino Gemelli, Roma, Italy...
July 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28728265/-mass-spectrometry-combined-with-gene-analysis-for-prenatal-diagnosis-of-glutaric-acidemia-type-%C3%A2
#9
F Han, L S Han, W J Ji, T Chen, F Xu, Y Wang, J Ye, W J Qiu, H W Zhang, Y Z Jiang, C Hou, X F Gu
Objective: To investigate the value of amniotic fluid metabolite detection by mass spectrometry combined with gene mutation analysis in the prenatal diagnosis of glutaric acidemia type Ⅰ (GA-Ⅰ). Method: From January 2009 to December 2016, Department of Pediatric Endocrinology and Genetic, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine carried out prenatal diagnosis for 24 cases of pregnant women with GA-Ⅰproband. 24 pregnant women without organic acidemia proband for conventional prenatal diagnosis at the same period were used as the control group...
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28727893/outcome-after-prenatal-and-postnatal-diagnosis-of-complex-congenital-heart-defects-and-the-influence-of-genetic-anomalies
#10
Katya De Groote, Ellen Vanhie, Ellen Roets, Paul Ramaekers, Hans De Wilde, Joseph Panzer, Kristof Vandekerckhove, Thierry Bove, Katrien François, Koen Van Herck, Daniël De Wolf
OBJECTIVE: Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD. METHOD: Single center retrospective study in patients with severe CHD diagnosed pre or postnatally (2006 to 2014). RESULTS: 567 patients were included, 176 (31%) after prenatal diagnosis, with large differences in prenatal detection rate among CHD types. Coarctation (24%), tetralogy of Fallot (21%) and univentricular heart (19%) were the most prevalent CHD...
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28727891/prenatal-diagnosis-of-sotos-syndrome-characterized-by-fetal-growth-restriction
#11
Yi Zhang, Shaobing Lin, Qun Fang
Sotos syndrome (OMIM#117550) is a overgrowth syndrome caused by mutations of the NSD1 gene.(1) The clinical manifestations include macrocephaly, tall stature, cardiac anomalies, and behavioral problems.(2,3) Affected individuals also have an increased risk of neoplasms. This article is protected by copyright. All rights reserved.
July 20, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28725980/prenatal-diagnosis-of-premature-constriction-of-the-ductus-arteriosus-with-tricuspid-papillary-muscle-rupture-a-case-report
#12
Ayako Inatomi, Jun Sasahara, Keisuke Ishii, Mistuda Nobuaki
We describe the case of a neonate who was prenatally diagnosed at a gestational age of 36 weeks with premature constriction of the ductus arteriosus. Blood from the thin ductus arteriosus flowed toward the pulmonary artery. Severe tricuspid regurgitation was also observed. We subsequently confirmed rupture of the tricuspid papillary muscle after birth. Cardiotonic drugs and nitric oxide were administered immediately at birth for pulmonary hypertension, and this therapy was continued until the seventh postnatal day...
July 19, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28722320/congenital-unilateral-renal-agenesis-prevalence-prenatal-diagnosis-associated-anomalies-data-from-two-birth-defect-registries
#13
Hélène Laurichesse Delmas, Monique Kohler, Bérénice Doray, Didier Lémery, Christine Francannet, Jocelyn Quistrebert, Cécile Marie, Isabelle Perthus
BACKGROUND: The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secondary objectives were to describe the evolution of sensitivity of prenatal diagnosis over time and the different forms of URA (isolated and associated with other malformations) detected up to 1 year...
July 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28718496/-introduction-of-rapid-syphilis-and-hiv-testing-in-prenatal-care-in-colombia-qualitative-analysis
#14
María Teresa Ochoa-Manjarrés, Hernando Guillermo Gaitán-Duarte, Sidia Caicedo, Berta Gómez, Freddy Pérez
Objective: Interpret perceptions of Colombian health professionals concerning factors that obstruct and facilitate the introduction of rapid syphilis and HIV testing in prenatal care services. Methods: A qualitative study based on semi-structured interviews was carried out. A convenience sample was selected with 37 participants, who included health professionals involved in prenatal care services, programs for pregnant women, clinical laboratories, and directors of health care units or centers, as well as representatives from regional departments and the Ministry of Health...
December 2016: Revista Panamericana de Salud Pública, Pan American Journal of Public Health
https://www.readbyqxmd.com/read/28718492/-hiv-and-syphilis-coinfection-in-pregnancy-and-vertical-hiv-transmission-a-study-based-on-epidemiological-surveillance-data
#15
Lisiane M W Acosta, Tonantzin Ribeiro Gonçalves, Nêmora Tregnago Barcellos
Objective: To estimate the rate of HIV and syphilis coinfection among pregnant women living in Porto Alegre, Brazil, as well as the association of coinfection with vertical HIV transmission and socioeconomic variables. Method: This analytical retrospective cross-sectional study employed data from the regular epidemiological surveillance system for the period from 2010 to 2013. Data were obtained regarding pregnant women with HIV and exposed children, syphilis in pregnancy, and congenital syphilis...
December 2016: Revista Panamericana de Salud Pública, Pan American Journal of Public Health
https://www.readbyqxmd.com/read/28716867/syndromic-congenital-diarrhoea-new-spint2-mutation-identified-in-the-uae
#16
Solange Bou Chaaya, Julian D Eason, Bibian N Ofoegbu
We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. The determination of the molecular basis of syndromic CSD will facilitate prenatal and postnatal diagnosis of patients and will contribute to counselling of affected families, especially in areas like the UAE where consanguineous marriages are not uncommon...
July 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28715041/diagnostic-single-gene-analyses-beyond-sanger-economic-high-throughput-sequencing-of-small-genes-involved-in-congenital-coagulation-and-platelet-disorders
#17
Juliane Najm, Matthias Rath, Winnie Schröder, Ute Felbor
Molecular testing of congenital coagulation and platelet disorders offers confirmation of clinical diagnoses, supports genetic counselling, and enables predictive and prenatal diagnosis. In some cases, genotype-phenotype correlations are important for predicting the clinical course of the disease and adaptation of individualized therapy. Until recently, genotyping has been mainly performed by Sanger sequencing. While next generation sequencing (NGS) enables the parallel analysis of multiple genes, the cost-value ratio of custom-made panels can be unfavorable for analyses of specific small genes...
July 17, 2017: Hämostaseologie
https://www.readbyqxmd.com/read/28711366/-contribution-of-chromosomal-microarray-analysis-by-a-multidisciplinary-prenatal-diagnosis-center
#18
C Bartholmot, E Mousty, F Grosjean, Y Petrov, P Khau Van Kien, J Chiesa, V Letouzey
OBJECTIVE: Chromosomal analysis by array CGH is a cytogenetic technique that has opened its application to prenatal diagnosis in recent years. The main objective of the study was to analyze the contribution for couples using chromosomal analysis by array CGH in a CPDPN. METHODS: A retrospective cohort study was conducted in 2015 in a CPDPN. All the patients with array CGH analysis were included in the study. The analysis indications were CN≥3.5mm, ultrasound signs, intra-uterine growth retardation and fetal deaths...
July 12, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#19
Lakshmi Mehta, Belinda Jim
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28710942/parental-psychopathology-and-offspring-attention-deficit-hyperactivity-disorder-in-a-nationwide-sample
#20
Petteri Joelsson, Roshan Chudal, Jaakko Uotila, Auli Suominen, Dan Sucksdorff, David Gyllenberg, Andre Sourander
OBJECTIVE: To study the associations between a wide range of parental psychiatric disorders and offspring attention-deficit/hyperactivity disorder (ADHD). METHOD: This study is based on a nested case-control design. The association between parental registered psychiatric diagnoses and offspring ADHD was examined adjusting for socioeconomic and prenatal factors. Data was linked from Finnish nationwide registers. The cases (n = 10,409) were all the children born between years 1991 and 2005 in Finland and diagnosed with ADHD by the end of 2011...
July 4, 2017: Journal of Psychiatric Research
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