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prenatal testing

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https://www.readbyqxmd.com/read/29928259/first-prenatal-diagnosis-of-a-niemann-pick-disease-type-c2-revealed-by-a-cystic-hygroma-a-case-report-and-review-of-the-literature
#1
Liana Ples, Romina-Marina Sima, Florina Nedelea, Marius Moga
Background: The importance of fetal nuchal translucency was highlighted in the early 1990s as a useful first-trimester marker to identify fetal chromosomal abnormalities. Here, we report the prenatal diagnosis of a fetus with Niemann-Pick disease type C initially identified by first-trimester ultrasonographic markers and eventually confirmed by extensive genetic evaluation. Case presentation: The fetus of a 30-year-old woman exhibited a cystic hygroma in the first trimester of pregnancy...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29926512/potentially-effective-method-for-fetal-gender-determination-by-non-invasive-prenatal-testing-for-x-linked-disease
#2
Yoshiteru Noda, Takema Kato, Asuka Kato, Haruki Nishizawa, Jun Miyazaki, Mayuko Ito, Sumire Terasawa, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Examination of maternal plasma cell free DNA (cfDNA) for noninvasive prenatal testing for fetal trisomy is a highly effective method for pregnant women at high risk. This can be also applied to fetal gender determination in female carriers of severe X-linked disease. PCR analysis is a relatively simpler and less expensive method of detecting Y chromosome-specific repeats (Y-specific PCR; YSP), but is limited by the risk of false-negative results. To address this, we have developed a combined strategy incorporating YSP and an estimation of the fetal DNA fraction...
June 21, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29925277/maternal-age-trends-support-uptake-of-non-invasive-prenatal-testing-nipt-in-the-low-risk-population
#3
Kelly M Chen, Karen White, Junaid Shabbeer, Maximilian Schmid
PURPOSE: To examine trends in patients submitting samples for cell-free DNA screening to determine whether they reflect a shift towards NIPT use in the low-risk population. METHODS: A review of demographic information was performed for all specimens submitted to the Ariosa Diagnostics clinical laboratory for the Harmony® prenatal test between January 1, 2014 and December 30, 2017. The proportions of specimens for patients under 35 years and 35 years and older were compared...
June 20, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29921047/-application-of-next-generation-sequencing-in-congenital-sensorineural-deafness
#4
B Xu, Y Chen, A Jiang, C Chen, K Wang, J Zheng, Y Fu
Objective: The next-generation sequencing technology (NGS) was used to perform genetic testing on children diagnosed with sensorineural hearing loss in outpatient clinics.The information on the status and inheritance of disease causing genes in deafness was analyzed to provide a theoretical basis for genetic counseling, prenatal diagnosis, and birth defects prevention. Method: Ninety-four cases of sensorineural deafness diagnosed by medical history, audiological examination, and imaging examination were collected in our department...
June 5, 2018: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29920550/an-economic-analysis-of-chromosome-testing-in-couples-with-children-who-have-structural-chromosome-abnormalities
#5
Kittiphong Thiboonboon, Wantanee Kulpeng, Yot Teerawattananon
BACKGROUND: Structural chromosome abnormalities can cause significant negative reproductive outcomes as they typically result in morbidity and mortality of newborns. The prevalence of structural chromosomal abnormalities in live births is at least 0.05%, of which many of them have parental origins. It is uncommon to predict structural chromosome abnormalities at birth in the first child but it is possible to prevent repeated abnormalities through screening and diagnostic programmes. This study will provide an economic analysis of the prenatal detection of these abnormalities...
2018: PloS One
https://www.readbyqxmd.com/read/29920306/pregnancy-as-a-valuable-period-for-preventing-hypoxia-ischemia-brain-damage
#6
REVIEW
C A Netto, E F Sanches, F Odorcyk, L E Duran-Carabali, S V Sizonenko
Neonatal brain Hypoxia-Ischemia (HI) is one of the major causes of infant mortality and lifelong neurological disabilities. The knowledge about the physiopathological mechanisms involved in HI lesion have increased in recent years, however these findings have not been translated into clinical practice. Current therapeutic approaches remain limited; hypothermia, used only in term or near-term infants, is the golden standard. Epidemiological evidence shows a link between adverse prenatal conditions and increased risk for diseases, health problems, and psychological outcomes later in life, what makes pregnancy a relevant period for preventing future brain injury...
June 16, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29916415/the-italian-national-external-quality-assessment-program-in-cytogenetics-4-years-of-activity-2013-2016-following-the-introduction-of-poor-performance-criteria
#7
Maria Chiara de Stefano, Giovanna Floridia, Federica Censi, Fabrizio Tosto, Marco Salvatore, Alessandro Civolani, Barbara Crescenzi, Daniela Giardino, Elisabetta Lenzini, Ermanna Lisi, Fortunato Lonardo, Marco Mancini, Antonio Novelli, Giuseppe Piombo, Sabine Stioui, Domenica Taruscio
BACKGROUND: Italian External Quality Assessment (IEQA) Program in Cytogenetics, established in 2001 by the Istituto Superiore di Sanità (ISS), covers both Constitutional and Oncohaematological diagnosis. In 2013, performance criteria were defined and adopted. In this paper, we present the data from the first 4 years of activity (2013-2016) following the introduction of performance criteria. METHODS: The enrollment is voluntary, fee-based and open to both public and private Italian laboratories...
April 2018: Annali Dell'Istituto Superiore di Sanità
https://www.readbyqxmd.com/read/29913173/diagnostic-accuracy-of-4-th-generation-architect-hiv-ag-ab-combo-assay-and-utility-of-signal-to-cutoff-ratio-to-predict-false-positive-hiv-tests-in-pregnancy
#8
Emily H Adhikari, Devin Macias, Donna Gaffney, Sarah White, Vanessa L Rogers, Donald D McIntire, Scott W Roberts
BACKGROUND: False positive HIV screening tests in pregnancy may lead to unnecessary interventions in labor. In 2014, the Centers for Disease Control and Prevention released a new algorithm for HIV diagnosis using a 4th generation screening test, which detects antibodies to HIV as well as p24 antigen and has a shorter window period compared with prior generations. A reactive screen requires a differentiation assay, and supplemental qualitative RNA testing is necessary for nonreactive differentiation assay...
June 15, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29911931/profile-of-roche-s-ariosa-harmony-prenatal-test
#9
Elisa Bevilacqua, Serena Resta, Andrew Carlin, Xin Kang, Teresa Cos Sanchez, Jérôme de Marchin, Jacques C Jani
Roche's Ariosa HarmonyTM Prenatal Test, a noninvasive cfDNA (cell-free DNA) method for major trisomies has been available since January-2013 at the authors unit and tests were sent to California. From July-2017 onwards, prenatal cfDNA has been reimbursed in Belgium for all pregnancies, however since then samples are sent to a local technology transfer center. Little data are available on patient's profile and choices towards cfDNA and on the performance of local technology transfer centers. Areas covered: The profiles and choices of women regarding this test were evaluated...
June 18, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29909190/pediatric-robotic-assisted-laparoscopic-pyeloplasty-does-age-matter
#10
T Kawal, A K Srinivasan, D Shrivastava, J Van Batavia, D Weiss, C Long, A R Shukla
BACKGROUND: Although shown to be safe in infancy, robotic-assisted laparoscopic pyeloplasty (RALP) for ureteropelvic junction obstruction (UPJO) is most commonly performed in older children and adolescents. OBJECTIVE: This study examined a contemporary RALP experience at a single tertiary pediatric center and compared outcomes in infants aged ≤1 year with an older cohort. METHODS AND DESIGN: All RALP procedures were entered into an Institutional Review Board-approved data registry from 2012 to 2016...
June 1, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29908643/investigating-human-placentation-and-pregnancy-using-first-trimester-chorionic-villi
#11
Roberta L Hannibal, Margarida Cardoso-Moreira, Shilpa P Chetty, Joanne Lau, Zhongxia Qi, Eduardo Gonzalez-Maldonado, Athena M Cherry, Jingwei Yu, Mary E Norton, Julie C Baker
Chorionic villus sampling (CVS), routinely used for prenatal diagnosis of cytogenetic disorders, also possesses great potential for the study of placentation. To better understand villus biology, human placentation, and how these relate to pregnancy outcomes, we examined the morphology and transcriptomes of villi obtained via CVS from 10 to 14 weeks of pregnancy and correlated these with pregnancy attributes and clinical outcomes. First, we established a morphological scoring system based on three main villus features: branching, budding and vascularization...
May 2018: Placenta
https://www.readbyqxmd.com/read/29908353/the-impact-of-prenatal-diagnosis-on-congenital-anomaly-outcomes-data-from-1997-to-2016
#12
REVIEW
Paula Braz, Ausenda Machado, Carlos Matias Dias
The term prenatal diagnosis comprises a variety of techniques aimed to determine the health and condition of the embryo or foetus. Its main goal is to identify at an early stage of the pregnancy, if possible, malformations or other conditions that could increase the risk of a negative outcome in the pregnancy. The aim of this study was to assess the impact of prenatal diagnosis in Portugal in pregnancies with congenital anomalies. A cross sectional study was implemented using data for the years 1997-2016 from the Portuguese registry of congenital anomalies (RENAC), a population-based registry that follows EUROCAT guidelines...
June 13, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29907962/prenatal-diagnosis-of-skeletal-dysplasias-using-a-targeted-skeletal-gene-panel
#13
Xinyao Zhou, Natalie Chandler, Linbei Deng, Jia Zhou, Meizhen Yuan, Luming Sun
OBJECTIVE: This study aimed to perform an accurate and precise diagnosis for foetuses with suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype. METHODS: Proband-only targeted skeletal gene panel sequencing was performed on twelve families who had foetuses with suspected skeletal anomalies based on ultrasound evaluations at a mean gestational age of 24 weeks and 3 days. The foetuses all had normal standard genetic testing yield (karyotyping and microarray)...
June 15, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29907801/comparative-assessment-of-gene-specific-variant-distribution-in-prenatal-and-postnatal-cohorts-tested-for-noonan-syndrome-and-related-conditions
#14
N L Leach, D R Wilson Mathews, L S Rosenblum, Z Zhou, H Zhu, R A Heim
PURPOSE: To compare the pattern of gene-specific involvement and the spectrum of variants observed in prenatal and postnatal (mean ± SD, 8.9 ± 9.4 years) cohorts tested for Noonan syndrome and related conditions. METHODS: Outcomes of sequencing panel testing were compared between prenatal (n = 845) and postnatal (n = 409) cohorts. RESULTS: PTPN11 and SOS1 harbored the majority of observed variants in both prenatal and postnatal cohorts, and BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1, and SHOC2 had similarities in their pattern of involvement in both cohorts...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29907777/social-status-and-prenatal-testosterone-exposure-assessed-via-second-to-fourth-digit-ratio-affect-6-9-year-old-children-s-prosocial-choices
#15
Lisa Horn, Niklas A Hungerländer, Sonja Windhager, Thomas Bugnyar, Jorg J M Massen
Prosocial behaviour (i.e., voluntary behaviour intended to benefit another) seems to be fully developed in children by the age of 6 years. However, questions about which factors modify prosocial behaviour at that age remain understudied. Here we used a resource allocation paradigm to test prosocial behaviour in 6-9-year-old school children. They could decide between a "selfish" (i.e., one sticker for themselves) and a "prosocial" option (i.e., one sticker for themselves and one for the receiver) and we tested whether friendship, social status and prenatal androgen exposure (approximated by the 2nd to 4th digit ratio; 2D:4D) influenced children's prosocial choices...
June 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29905488/effects-of-interaction-between-drd4-methylation-and-prenatal-maternal-stress-on-methylphenidate-induced-changes-in-continuous-performance-test-performance-in-youth-with-attention-deficit-hyperactivity-disorder
#16
Johanna Inhyang Kim, Jae-Won Kim, Inkyung Shin, Bung-Nyun Kim
OBJECTIVES: Environmental factors may interact with genetic factors via the epigenetic process, and this interaction can contribute to inter-individual variability in the treatment response. The purpose of this study was to investigate the interaction effects between dopamine receptor D4 (DRD4) methylation and prenatal maternal stress on the methylphenidate (MPH) response of youth with attention-deficit/hyperactivity disorder (ADHD). METHODS: This study was an 8-week open-label trial of MPH that included 74 ADHD youth...
June 15, 2018: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/29903031/what-s-new-in-pontocerebellar-hypoplasia-an-update-on-genes-and-subtypes
#17
REVIEW
Tessa van Dijk, Frank Baas, Peter G Barth, Bwee Tien Poll-The
BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures, motor and cognitive impairments. Based on distinct clinical features and genetic causes, current classification comprises 11 types of PCH. MAIN TEXT: In this review we describe the clinical, neuroradiological and genetic characteristics of the different PCH subtypes, summarize the differential diagnosis and reflect on potential disease mechanisms in PCH...
June 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29902490/decreased-h3k9ac-level-of-star-mediated-testicular-dysplasia-induced-by-prenatal-dexamethasone-exposure-in-male-offspring-rats
#18
Min Liu, Biao Chen, Linguo Pei, Qi Zhang, Yunfei Zou, Hao Xiao, Jin Zhou, Liaobin Chen, Hui Wang
Prenatal dexamethasone exposure (PDE) could induce testicular developmental toxicity in adults. The present study aims to confirm its intrauterine origination, and to explore its potential intrauterine programming mechanism. The pregnant rats were respectively injected subcutaneously with 0.2 and 0.8 mg/kg⋅d dexamethasone during gestational days (GD) 9 to 20. The testes and serum of offspring rats were collected on GD20 and postnatal week (PW) 12. In vivo, PDE significantly induced the abnormal testicular morphology in offspring from GD20 to PW12...
June 11, 2018: Toxicology
https://www.readbyqxmd.com/read/29900540/contemporary-prenatal-aneuploidy-screening-practice-in-australia-frequently-asked-questions-in-the-cell-free-dna-era
#19
REVIEW
Wawrzyniec Rieder, Scott White, George McGillivray, Lisa Hui
Cell-free DNA screening has quickly become established in Australia as an accurate - albeit costly - prenatal screening test for trisomy 21, 18 and 13. It is also commonly used for the detection of sex chromosome abnormalities. The increasing number of prenatal screening pathways available to women has increased the complexity of pretest counselling. Concurrent advances in diagnostic testing with the widespread use of chromosomal microarrays create further challenges for the continuing education of clinicians and health consumers...
June 13, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/29899373/isochromosome-21q-is-overrepresented-among-false-negative-cell-free-dna-prenatal-screening-results-involving-down-syndrome
#20
Karin Huijsdens-van Amsterdam, Lieve Page-Christiaens, Nicola Flowers, Michael D Bonifacio, Katie M Battese Ellis, Ida Vogel, Else Marie Vestergaard, Javier Miguelez, Mario Henrique Burlacchini de Carvalho, Erik A Sistermans, Mark D Pertile
False-negative cell-free DNA (cfDNA) screening results involving Down syndrome are rare, but have high clinical impact on patients and their healthcare providers. Understanding the biology behind these results may allow for improved diagnostic follow-up and counseling. In 5 different centers offering cfDNA prenatal screening, 9 false-negative results were documented in 646 confirmed cases of trisomy 21; a false-negative rate of 1.4% (95% CI, 0.7-2.6). False-negative results included 4 cases of classical trisomy 21 and 5 cases with a de novo 21q;21q rearrangement...
June 13, 2018: European Journal of Human Genetics: EJHG
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