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Prenatal screening

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https://www.readbyqxmd.com/read/28546993/nationwide-genetic-analysis-for-molecularly-unresolved-cystic-fibrosis-patients-in-a-multiethnic-society-implications-for-preconception-carrier-screening
#1
Doron M Behar, Ori Inbar, Michal Shteinberg, Michal Gur, Huda Mussaffi, David Shoseyov, Moshe Ashkenazi, Soliman Alkrinawi, Concetta Bormans, Fahed Hakim, Meir Mei-Zahav, Malena Cohen-Cymberknoh, Adi Dagan, Dario Prais, Ifat Sarouk, Patrick Stafler, Bat El Bar Aluma, Gidon Akler, Elie Picard, Micha Aviram, Ori Efrati, Galit Livnat, Joseph Rivlin, Lea Bentur, Hannah Blau, Eitan Kerem, Amihood Singer
BACKGROUND: Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan-population panels. Israel is characterized by genetically heterogeneous populations carrying a wide range of CFTR mutations. To assess the potential of expanding the current Israeli preconception screening program, we sought the subset of molecularly unresolved CF patients listed in the Israeli CF data registry comprising ~650 patients...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28545476/prenatal-diagnosis-and-prevention-of-toxoplasmosis-in-pregnant-women-in-northern-vietnam-study-protocol
#2
G Suzanne A Smit, Thi Lam Binh Vu, Trung Dung Do, Niko Speybroeck, Brecht Devleesschauwer, Elizaveta Padalko, Ellen Roets, Pierre Dorny
BACKGROUND: In Vietnam, no systematic prenatal toxoplasmosis screening is in place, and only few studies have assessed the prevalence and importance of this zoonotic parasite infection. In addition, no studies have been conducted to assess the risk factors associated with toxoplasmosis. This study protocol was developed to determine the seroprevalence of toxoplasmosis in pregnant women in Hanoi and Thai Binh, Northern Vietnam, and to evaluate the association with risk factors and congenital toxoplasmosis...
May 25, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28541280/a-quantitative-csmart-assay-for-noninvasive-prenatal-screening-of-autosomal-recessive-nonsyndromic-hearing-loss-caused-by-gjb2-and-slc26a4-mutations
#3
Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram, Pu Dai
PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples were genotyped by invasive prenatal screening (IPS), whereas the cell-free fetal DNA present in maternal plasma samples was genotyped using a novel NIPS method based on circulating single-molecule amplification and resequencing technology (cSMART)...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28539199/respiratory-severity-score-and-extubation-readiness-in-very-low-birth-weight-infants
#4
Maroun J Mhanna, Narayan P Iyer, Scott Piraino, Mohit Jain
BACKGROUND: The respiratory severity score (RSS) is a byproduct of mean airway pressure (MAP) and fraction of inspired oxygen (FiO2). We sought to determine whether RSS could be used as a screening tool to predict extubation readiness in very low birth weight (VLBW) infants. METHODS: In a retrospective cohort study, medical records of all VLBW infants admitted to our unit (6/1/09-2/28/12) were reviewed for infants' demographics, prenatal characteristics, and medication use...
May 10, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28533154/preconception-and-prenatal-genetic-counselling
#5
REVIEW
Adonis S Ioannides
Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the preconception or early prenatal stage, although more options are available if risks are identified before the pregnancy. Preconception counselling covers issues that can affect the health of the mother and baby including folic acid supplementation. Carrier screening for autosomal recessive diseases, such as beta thalassaemia, has resulted in a significantly reduced incidence in many countries...
April 21, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28527947/embryonic-vascular-disruption-adverse-outcomes-linking-high-throughput-signaling-signatures-with-functional-consequences
#6
Robert G Ellis-Hutchings, Raja S Settivari, Alene T McCoy, Nicole Kleinstreuer, Jill Franzosa, Thomas B Knudsen, Edward W Carney
Embryonic vascular disruption is an important adverse outcome pathway (AOP) as chemical disruption of cardiovascular development induces broad prenatal defects. High throughput screening (HTS) assays aid AOP development although linking in vitro data to in vivo apical endpoints remains challenging. This study evaluated two anti-angiogenic agents, 5HPP-33 and TNP-470, across the ToxCastDB HTS assay platform and anchored the results to complex in vitro functional assays: the rat aortic explant assay (AEA), rat whole embryo culture (WEC), and the zebrafish embryotoxicity (ZET) assay...
May 17, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28526515/prenatal-lipopolysaccharide-induces-hypothalamic-dopaminergic-hypoactivity-and-autistic-like-behaviors-repetitive-self-grooming-and-stereotypies
#7
Thiago B Kirsten, Maria M Bernardi
Previous investigations by our group have shown that prenatal exposure to lipopolysaccharide (LPS), which mimics infection by gram-negative bacteria, induces social, cognitive, and communication deficits. For a complete screening of autistic-like behaviors, the objective of this study was to evaluate if our rat model also induces restricted and repetitive stereotyped behaviors. Thus, we studied the self-grooming microstructure. We also studied the neurochemistry of hypothalamus and frontal cortex, which are brain areas related to autism to better understand central mechanisms involved in our model...
May 16, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28526191/aiding-risk-information-learning-through-simulated-experience-arise-using-simulated-outcomes-to-improve-understanding-of-conditional-probabilities-in-prenatal-down-syndrome-screening
#8
Pete Wegier, Victoria A Shaffer
OBJECTIVE: To determine whether the use of simulated experiences to communicate statistical information can improve an individual's understanding of conditional probabilities-specifically the positive predictive value (PPV) of prenatal screening tests for Down syndrome. METHODS: In Experiment 1 (N=64) and Experiment 2 (N=180) participants were asked to estimate the PPV of a prenatal screening test for Down syndrome based on either (1) explicit statistics regarding the prevalence of Down syndrome and the sensitivity and specificity of a prenatal screening test for Down syndrome, or (2) experiencing up to 5000 simulated test results over a short time...
April 26, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28525905/the-effect-of-pre-pregnancy-body-mass-index-and-excessive-gestational-weight-gain-on-the-risk-of-gestational-diabetes-in-advanced-maternal-age
#9
Beibei Dong, Hong Yu, Qiong Wei, Mengmeng Zhi, Chunhua Wu, Xiangyun Zhu, Ling Li
BACKGROUND AND PURPOSE: With the popularization of a two-child policy in China, the number of pregnant women of advanced maternal age will increase steadily. We aimed to assess the association between pre-pregnancy body mass index (BMI) and weight gain in the first and second trimester and the risk of gestational diabetes (GDM) in the advanced maternal age group and control group defined as maternal age of 20-35 years. RESULTS: The risk of GDM for obesity before pregnancy was 2...
May 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28521069/experiences-and-expectations-in-the-first-trimester-of-pregnancy-a-qualitative-study
#10
Stina Lou, Michal Frumer, Mette M Schlütter, Olav B Petersen, Ida Vogel, Camilla P Nielsen
BACKGROUND: A dominant context for pregnant women in the Western world is medical technologies such as ultrasound and screening. It has been argued that such technologies may result in tentative pregnancies, which may be particularly prominent in the first trimester. However, little is known about how women experience early pregnancy. OBJECTIVE: To explore the everyday experiences and expectations of first trimester pregnant women in a medicalized context of comprehensive and routine prenatal screening...
May 18, 2017: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#11
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28511454/the-factor-structure-and-psychometric-properties-of-the-persian-version-of-the-revised-prenatal-coping-inventory-nu-pci
#12
Mahbobeh Faramarzi, Hajar Pasha, Sorayya Khafri, Shima Heidary
INTRODUCTION: Familiarity with coping strategies is essential for stress management during pregnancy. The Revised Prenatal Coping Inventory (Nu-PCI) was developed to assess coping strategies during pregnancy. AIM: This study aimed to assess the factor structure and psychometric properties of the Persian version of the Nu-PCI. MATERIALS AND METHODS: After forward-backward translation, the Nu-PCI was administered to 210 pregnant women who were enrolled in two teaching referral clinics in the North of the Islamic Republic of Iran (Babol)...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28510070/sonographic-detection-of-open-spina-bifida-in-the-first-trimester-review-of-the-literature
#13
César Meller, Horacio Aiello, Lucas Otaño
In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the "lemon sign" and the "banana sign"), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities...
May 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28506597/a-practice-pattern-assessment-of-members-of-the-society-of-pediatric-urology-for-evaluation-and-treatment-of-urinary-tract-dilation
#14
Jessica N Jackson, Rebecca S Zee, Allison N Martin, Sean T Corbett, C D Anthony Herndon
INTRODUCTION: Over the last decade the literature, including a multidisciplinary consensus statement, has supported a paradigm shift in management of urinary tract dilation, yet the impact on practice patterns has not been well documented. OBJECTIVE: This study aims to elucidate specific practice patterns for treatment of prenatal unilateral urinary tract dilation and to assess surgical intervention patterns for ureteropelvic junction obstruction. STUDY DESIGN: An online survey was distributed to 234 pediatric urologists through the Society of Pediatric Urology...
April 26, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28503568/a-novel-72-t%C3%A2-a-%C3%AE-promoter-mutation-causing-slightly-elevated-hba2-in-a-vietnamese-heterozygote
#15
Monica Pirastru, Paolo Mereu, Chau Quynh Nguyen, Nhan Viet Nguyen, Thang Duy Nguyen, Laura Manca
We report a novel β(+)-thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of the β-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA2 (3.96%). The expression of the mutated β allele was inferred by luciferase reporter assay in K562 cells. The β -72 determinant is the eighth β-thalassemic mutation identified in Vietnam and it was not previously reported in any population...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28499796/the-antenatal-urinary-tract-dilation-classification-system-accurately-predicts-severity-of-kidney-and-urinary-tract-abnormalities
#16
C D W Kaspar, M Lo, T E Bunchman, N Xiao
BACKGROUND: Urinary tract dilation (UTD) is a commonly diagnosed prenatal condition; however, it is currently unknown which features lead to benign and resolving or pathologic abnormalities. A consensus UTD classification system (antenatal UTD classification, UTD-A) was created by Nguyen et al. in 2014 [1], but has not yet been validated. OBJECTIVE: To evaluate the ability of the UTD-A system to identify kidney and urinary tract (KUT) abnormalities, assess whether UTD-A can predict severity of KUT conditions, and perform a cost analysis of screening ultrasound (US)...
April 21, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28499534/prenatal-diagnosis-screening-and-diagnostic-tools
#17
REVIEW
Laura M Carlson, Neeta L Vora
The American Congress of Obstetricians and Gynecologists recommends that all pregnant women be offered aneuploidy screening or diagnostic testing. A myriad of screening and testing options are available to patients based on their risk profile and gestational age. Screening options include traditional serum analyte screening, such as first-trimester screening or quadruple screening, and more recently, cell-free DNA. Diagnostic testing choices include chorionic villus sampling and amniocentesis. The number of screening and diagnostic modalities complicates prenatal counseling for physicians and can be difficult for patients to grasp...
June 2017: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/28495235/prenatal-detection-of-megacystis-not-always-an-adverse-prognostic-factor-experience-in-25-consecutive-cases-in-a-tertiary-referral-center-with-complete-neonatal-outcome-and-follow-up
#18
Marcella Pellegrino, Daniela Visconti, Vincenzo Davide Catania, Luisa D'Oria, Carlo Manzoni, Maria Giovanna Grella, Alessandro Caruso, Lucia Masini, Giuseppe Noia
INTRODUCTION: Megacystis is a condition of abnormal enlarged fetal bladder for gestational age, which is usually associated with urological malformations that may constitute a life-threatening condition for the baby. OBJECTIVE: The purpose of this study was to assess the prognostic and etiological criteria of fetal megacystis and to describe the neonatal outcome in a large series collected in a single tertiary center. STUDY DESIGN: A retrospective observational study was conducted between 2008 and 2012...
April 14, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28494804/validity-of-the-posttraumatic-stress-disorders-ptsd-checklist-in-pregnant-women
#19
Bizu Gelaye, Yinnan Zheng, Maria Elena Medina-Mora, Marta B Rondon, Sixto E Sánchez, Michelle A Williams
BACKGROUND: The PTSD Checklist-civilian (PCL-C) is one of the most commonly used self-report measures of PTSD symptoms, however, little is known about its validity when used in pregnancy. This study aims to evaluate the reliability and validity of the PCL-C as a screen for detecting PTSD symptoms among pregnant women. METHODS: A total of 3372 pregnant women who attended their first prenatal care visit in Lima, Peru participated in the study. We assessed the reliability of the PCL-C items using Cronbach's alpha...
May 12, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28492524/sociodemographic-and-attitudinal-predictors-of-simultaneous-and-redundant-multiple-marker-and-cell-free-dna-screening-among-women-aged-%C3%A2-35-years
#20
A K Lewkowitz, A J Kaimal, K Thao, A O'Leary, O Nseyo, M Kuppermann
OBJECTIVE: To identify characteristics associated with undergoing cell-free DNA (cfDNA) and multiple marker screening (MMS) simultaneously or redundantly (after receiving negative results from the first screening test) among women aged ⩾35 years. STUDY DESIGN: Participants presenting for prenatal testing completed a questionnaire that included measures of pregnancy worry and attitudes toward potential testing outcomes; data on prenatal test use was obtained via medical record review...
May 11, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
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