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Prenatal screening

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https://www.readbyqxmd.com/read/28213577/economic-evaluation-of-universal-prenatal-hiv-screening-compared-with-current-at-risk-policy-in-a-very-low-prevalence-country
#1
Michal Chowers, Oren Shavit
OBJECTIVES: Our objective was to economically evaluate universal HIV prenatal screening in Israel, a very low prevalence country (0.1%), compared with the current policy of testing only women belonging to high-risk (HR) groups. DESIGN: A cost-effectiveness analytical model was constructed. Life expectancies, direct medical costs and utility weights of an HIV-positive newborn and a healthy newborn were derived from the literature. Screening was assessed using fourth-generation combo tests...
March 2017: Sexually Transmitted Infections
https://www.readbyqxmd.com/read/28212920/neonatal-lupus-follow-up-in-infants-with-anti-ssa-ro-antibodies-and-review-of-the-literature
#2
REVIEW
Antonio Alberto Zuppa, Riccardo Riccardi, Simonetta Frezza, Francesca Gallini, Rita Maria Paola Luciano, Giovanni Alighieri, Costantino Romagnoli, Sara De Carolis
Neonatal Lupus Syndrome (NLS) is a distinct clinical entity caused by transplacental passage of maternal anti-SSA/Ro antibodies (Ab). Mothers may have systemic lupus erythematosus, Sjögren syndrome, or other connective tissue disease, or may be completely healthy at the time of giving birth. NLS includes several clinical manifestations: complete congenital heart block (CCHB) and cutaneous lupus are the most common, while hepatobiliary disease, hematological manifestations and central nervous system involvement may occur...
February 14, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28208888/haemoglobinopathies-and-%C3%AE-thalassaemia-among-the-tribals-working-in-the-tea-gardens-of-assam-india
#3
Anju Barhai Teli, Rumi Deori, Sidhartha Protim Saikia
INTRODUCTION: Prevalence of haemoglobinopathies and β-thalassaemia are very high in India but information about its status among the tribals working in the tea gardens of Assam is very less. AIM: The present study was carried out to determine the prevalence of haemoglobinopathies and β-thalassaemia among the tribals working in the tea gardens of Assam. MATERIALS AND METHODS: A total 1204 samples from the tribals working in tea gardens of Assam were analysed for both Complete Blood Count (CBC) and High Pressure Liquid Chromatography (HPLC) for detection of haemoglobinopathies and β-thalassaemia...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28198030/confined-placental-mosaicism-for-22q11-2-deletion-as-the-etiology-for-discordant-positive-nipt-results
#4
M Bunnell, C Zhang, C Lee, D W Bianchi, L Wilkins-Haug
22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000-6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11...
February 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28196921/noninvasive-prenatal-screening-of-fetal-aneuploidy-without-massively-parallel-sequencing
#5
Chenming Xu, Ting Wang, Chao Liu, Hong Li, Xiaoyan Chen, Huanhuan Zhu, Songchang Chen, Qiuhong Xin, Jing Tao, Liming Huang, Zhengwen Jiang
BACKGROUND: Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure. METHODS: We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28196114/retinopathy-of-prematurity-a-comprehensive-risk-analysis-for-prevention-and-prediction-of-disease
#6
Leah A Owen, Margaux A Morrison, Robert O Hoffman, Bradley A Yoder, Margaret M DeAngelis
BACKGROUND: Retinopathy of prematurity (ROP) is a blinding morbidity of preterm infants. Our current screening criteria have remained unchanged since their inception and lack the ability to identify those at greatest risk. OBJECTIVES: We sought to comprehensively analyze numerous proposed maternal, infant, and environmental ROP risk variables in a robustly phenotyped population using logistic regression to determine the most predictive model for ROP development and severity...
2017: PloS One
https://www.readbyqxmd.com/read/28192554/using-patient-centered-care-after-a-prenatal-diagnosis-of-trisomy-18-or-trisomy-13-a-review
#7
Shelly Haug, Mitchell Goldstein, Denise Cummins, Elba Fayard, T Allen Merritt
Importance: Patient-centered care (PCC) has been advocated by the Institute of Medicine to improve health care in the United States. Four concepts of PCC align with clinical ethics principles and are associated with enhanced patient/parent satisfaction. These concepts are dignity and respect, information sharing, participation, and collaboration. The objective of this article is to use the PCC approach as a framework for an extensive literature review evaluating the current status of counseling regarding prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) and to advocate PCC in the care of these infants...
February 13, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28185830/children-with-type-1-gaucher-disease-changing-profiles-in-the-21st-century
#8
Deborah Elstein, Gheona Altarescu, Aya Abrahamov, Ari Zimran
Gaucher disease (GD) has phenotypic variability. Increased GD awareness especially among at-risk Ashkenazi Jews (AJ) and availability of non-invasive diagnosis induced trend to prenatal screening. We retrospectively assessed pediatric (<16years) Israeli AJ GD patients to ascertain demographics and phenotype at presentation and over-time because many were identified by large-scale screening. 55/67 patients born since 01/01/2000 are AJ with non-neuronopathic GD: 28 (50.9%) are N370S/N370S; 24 (43.6%) are N370S/other; 3 (3...
December 19, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28180199/ultrasound-and-mri-comprehensive-approach-in-prenatal-diagnosis-of-fetal-osteochondrodysplasias-cases-series
#9
Costin Berceanu, Ioana Andreea Gheonea, Simona Vlădăreanu, Monica Mihaela Cîrstoiu, Radu Vlădăreanu, Claudia Mehedinţu, Sabina Berceanu, Răzvan Ciortea, Elvira Brătilă
AIM: To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination...
January 31, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28180146/-i-think-we-ve-got-too-many-tests-prenatal-providers-reflections-on-ethical-and-clinical-challenges-in-the-practice-integration-of-cell-free-dna-screening
#10
B L Gammon, S A Kraft, M Michie, M Allyse
BACKGROUND: The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes...
July 2016: Ethics, Medicine, and Public Health
https://www.readbyqxmd.com/read/28179817/the-placenta-and-neurodevelopment-sex-differences-in-prenatal-vulnerability
#11
Tracy L Bale
Prenatal insults, such as maternal stress, are associated with an increased neurodevelopmental disease risk and impact males significantly more than females, including increased rates of autism, mental retardation, stuttering, dyslexia, and attention deficit/hyperactivity disorder (ADHD). Sex differences in the placenta, which begin with sex chromosomes, are likely to produce sex-specific transplacental signals to the developing brain. Our studies and others have identified X-linked genes that are expressed at higher levels in the female placenta...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28169608/vitamin-d-deficiency-in-pregnant-ukrainian-women-effects-of-alcohol-consumption-on-vitamin-d-status
#12
Charles R Carlson, Janet Y Uriu-Adams, Christina D Chambers, Lyubov Yevtushok, Natalya Zymak-Zakutnya, Priscilla H Chan, Jordan J Schafer, Wladimir Wertelecki, Carl L Keen
OBJECTIVE: Heavy alcohol consumption can alter vitamin D status; however, the relationships between alcohol consumption and vitamin D concentrations in pregnant women have not been well studied. The aim of this study was to investigate the vitamin D status in a population of alcohol-exposed (N = 180) and low/unexposed control (N = 179) Ukrainian pregnant women. METHODS: Women who attended prenatal care facilities in 2 regions of Ukraine (Rivne and Khmelnytsky) for a routine prenatal visit were screened for the study...
January 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28166604/smith-lemli-opitz-syndrome-carrier-frequency-and-estimates-of-in-utero-mortality-rates
#13
Gabriel A Lazarin, Imran S Haque, Eric A Evans, James D Goldberg
OBJECTIVE: To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences. METHODS: 262,399 individuals with no known indication or increased probability of SLOS carrier status, primarily US-based, were screened for SLOS mutations as part of an expanded carrier screening panel. Results were retrospectively analyzed to estimate carrier frequencies in multiple ethnic groups...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28164817/primary-care-issues-in-inner-city-america-and-internationally
#14
REVIEW
Ramon Cancino
Inner-city patient populations are high-risk for poor outcomes, including increased risk of mortality. Barriers to delivering high-quality primary care to inner-city patients include lack of access, poor distribution of primary care providers (PCPs), competing demands, and financial restraints. Health care issues prevalent in this population include obesity, diabetes, cancer screening, asthma, infectious diseases, and obstetric and prenatal care. Population health management and quality improvement (QI) activities must target disparities in care...
March 2017: Primary Care
https://www.readbyqxmd.com/read/28164510/the-status-of-quality-control-investigation-and-analysis-for-maternal-serum-marker-of-prenatal-screening-laboratories-in-china
#15
Falin He, Wei Wang, Kun Zhong, Shuai Yuan, Zhiguo Wang
BACKGROUND: This national survey was initiated to investigate the current status of quality control practice of prenatal screening by statistical analysis of the previous half year data of prenatal screening in 2015. METHODS: Data were sent to all Chinese prenatal screening centers via the National Quality Assessment Scheme. This covered the software used, the risk cutoffs, monthly sample throughput, monthly median MoM of AFP, HCG, β-HCG, free β-HCG and uE3, monthly screening positive rates for trisomy 21, trisomy 18, and Open Neural Tube Defect (ONTD)...
January 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28153665/infant-outcomes-among-women-with-zika-virus-infection%C3%A2-during-pregnancy-results-of-a-large-prenatal%C3%A2-zika%C3%A2-screening-program
#16
Emily H Adhikari, David B Nelson, Kathryn A Johnson, Sara Jacobs, Vanessa L Rogers, Scott Roberts, Taylor Sexton, Donald D McIntire, Brian Casey
BACKGROUND: Zika virus infection during pregnancy is a known cause of congenital microcephaly and other neurologic morbidities. OBJECTIVE: We present the results of a large-scale prenatal screening program in place at a single-center health care system since March 14, 2016. Our aims were to report the baseline prevalence of travel-associated Zika infection in our pregnant population, determine travel characteristics of women with evidence of Zika infection, and evaluate maternal and neonatal outcomes compared to women without evidence of Zika infection...
January 30, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28153653/prenatal-diagnosis-and-management-of-vasa-previa-in-twin-pregnancies-a-case-series-and-systematic-review
#17
REVIEW
Eric Jauniaux, Yaakov Melcer, Ron Maymon
BACKGROUND: Twin pregnancies are at higher risks of velamentous cord insertion (VCI) and vasa previa. In-vitro fertilization (IVF) is an additional risk factor of abnormal cord insertion and thus the incidence of vasa previa is likely to increase over the next decades. OBJECTIVE: To evaluate the role of ultrasound imaging in optimizing the management of twins diagnosed with vasa previa antenatally. STUDY DESIGN: We searched our database for twin pregnancies diagnosed with vasa previa and managed antenatally using measurements of cervical length (CL) and performed a systematic review of articles which correlated prenatal diagnosis of vasa previa in twins and pregnancy outcome...
January 30, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28153478/perfusion-index-and-pulse-oximetry-screening-for-congenital-heart-defects
#18
Federico Schena, Irene Picciolli, Massimo Agosti, Antonio Alberto Zuppa, Gianvincenzo Zuccotti, Luciana Parola, Giulia Pomero, Giorgio Stival, Markus Markart, Silvia Graziani, Luigi Gagliardi, Cristina Bellan, Simona La Placa, Giuseppe Limoli, Gabriella Calzetti, Andrea Guala, Enza Bonello, Fabio Mosca
OBJECTIVE: To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals. STUDY DESIGN: A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission...
January 30, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28143837/haematological-and-electrophoretic-characterisation-of-%C3%AE-thalassaemia-in-yunnan-province-of-southwestern-china
#19
Jie Zhang, Jing He, Xiaoqin Mao, Xiaohong Zeng, Hong Chen, Jie Su, Baosheng Zhu
OBJECTIVES: β-Thalassaemia is widely found in Southwestern China. Characterisation of β-thalassaemia can improve screening and prenatal diagnosis for at-risk populations. DESIGN: A retrospective study. METHODS: In this study, the levels of haemoglobin alpha 2 (HbA2) and haemoglobin alpha (HbA) were analysed by gender for a total of 15 067 subjects screened by capillary electrophoresis. The cut-off value with the highest accuracy was established to identify β-thalassaemia in 723 patients suspected to have this disease...
January 31, 2017: BMJ Open
https://www.readbyqxmd.com/read/28141712/significant-sleep-dysregulation-in-a-toddler-with-developmental-delay
#20
Martin T Stein, Judith Owens, Myles Abbott
Derrick's parents made an appointment with a new pediatrician for a second opinion about disordered sleep. Now 22-months old, he was evaluated at 18 months of age for developmental delay when he was found to have "a regulatory disorder associated with delays in language and motor development, hypotonia and significant sleep problems." The parents are now most concerned about his sleeping pattern. Prolonged sleep onset and frequent night awaking occur each night since 6-months of age. These problems are more severe in the past few months when he awakes screaming and cannot be settled...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
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