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Prenatal screening

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https://www.readbyqxmd.com/read/28645073/analysis-of-ldlr-variants-from-homozygous-fh-patients-carrying-multiple-mutations-in-the-ldlr-gene
#1
Long Jiang, Asier Benito-Vicente, Ling Tang, Aitor Etxebarria, Wei Cui, Kepa B Uribe, Xiao-Dong Pan, Helena Ostolaza, Shi-Wei Yang, Yu-Jie Zhou, Cesar Martin, Lu-Ya Wang
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease with widespread global prevalence that partially accounts for the high prevalence of premature coronary heart disease. Although the majority of research on FH has focused on single heterozygous LDLR mutations, there have been limited reports of double LDLR mutations on the same chromosome. The aim of this study was to gain insight into the clinical consequences of the presence of multiple mutations in the LDLR gene...
June 8, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28643667/can-we-perform-a-prenatal-diagnosis-of-vasa-previa-to-improve-its-obstetrical-and-neonatal-outcomes
#2
E Nohuz, E Boulay, D Gallot, D Lemery, F Vendittelli
INTRODUCTION: Vasa previa (VP) is defined as a condition in which the fetal blood vessels, unsupported by the placenta or the umbilical cord, run through the membranes of the lower uterine segment. It is associated with a high risk of stillbirth by exsanguination. This study aimed to assess the clinical context of diagnosis of VP in order to elaborate a strategy for its prenatal diagnosis and to improve its obstetrical and neonatal outcomes. MATERIAL AND METHODS: This historical cohort study covered the period from January 1, 2011 to December 31, 2015...
April 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28641751/fetal-imaging-and-therapy-for-cdh-current-status
#3
Titilayo Oluyomi-Obi, Tim Van Mieghem, Greg Ryan
In congenital diaphragmatic hernia (CDH), herniation of the abdominal organs into the fetal chest causes pulmonary hypoplasia and pulmonary hypertension, the main causes of neonatal mortality. As antenatal ultrasound screening improves, the risk of postnatal death can now be better predicted, allowing for the identification of fetuses that might most benefit from a prenatal intervention. Fetoscopic tracheal occlusion is being evaluated in a large international randomized controlled trial. We present the antenatal imaging approaches that can help identify fetuses that might benefit from antenatal therapy, and review the evolution of fetal surgery for CDH to date...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28640799/screening-for-syphilis-and-other-sexually-transmitted-infections-in-pregnant-women-guam-2014
#4
Susan Cha, Tasneem Malik, Winston E Abara, Mia S DeSimone, Bernadette Schumann, Esther Mallada, Michael Klemme, Vince Aguon, Anne Marie Santos, Thomas A Peterman, Gail Bolan, Mary L Kamb
Prenatal screening and treatment for sexually transmitted infections (STIs) can prevent adverse perinatal outcomes. In Guam, the largest of the three U.S. territories in the Pacific, primary and secondary syphilis rates among women increased 473%, from 1.1 to 6.3 per 100,000 during 2009-2013 (1). In 2013, the first congenital syphilis case after no cases since 2008 was reported (1,2). Little is known about STI screening coverage and factors associated with inadequate screening among pregnant women in Guam. This study evaluated the prevalence of screening for syphilis, human immunodeficiency virus (HIV), chlamydia, and gonorrhea, and examined correlates of inadequate screening among pregnant women in Guam...
June 23, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28640470/contingent-first-trimester-screening-for-aneuploidies-with-cell-free-dna-in-a-danish-clinical-setting
#5
Caroline Borregaard Miltoft, Line Rode, Charlotte Kvist Ekelund, Karin Sundberg, Susanne Kjaergaard, Helle Zingenberg, Ann Tabor
OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral to cell-free DNA (cfDNA) testing for a risk between 1 in 100 and 1 in 1000. METHODS: Singleton pregnant women with a combined first trimester risk ≥ 1 in 1000 were consecutively recruited from two Danish hospitals between August 2014 and May 2015...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#6
Blanche Griffin, Samantha Edwards, Lyn S Chitty, Celine Lewis
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing...
February 9, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#7
Raj Muhammad, Muhammad Shakeel, Shoaib U Rehman, Muhammad A Lodhi
β-Thalassemia (β-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing β-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan...
June 21, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28633715/restless-legs-syndrome-and-sleep-wake-disturbances-in-pregnancy
#8
Galit Levi Dunietz, Lynda D Lisabeth, Kerby Shedden, Q Afifa Shamim-Uzzaman, Alexandra S Bullough, Mark C Chames, Marc F Bowden, Louise M O'Brien
STUDY OBJECTIVES: To estimate the association of restless legs syndrome (RLS) and its frequency with sleep-wake disturbances in pregnancy. METHODS: A cohort of 1,563 women in their third trimester of pregnancy were recruited from prenatal clinics between March 2007 and December 2010. Demographic, pregnancy, and delivery data were extracted from medical records and sleep information was collected with questionnaires. To diagnose RLS, we used standardized criteria of RLS symptoms and frequency that were developed by the International Restless Legs Study Group...
June 16, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28624828/unique-imaging-features-enabling-the-prenatal-diagnosis-of-developmental-venous-anomalies-a-persistent-echogenic-brain-lesion-drained-by-a-collecting-vein-in-contrast-with-normal-brain-parenchyma-on-mri
#9
Karina Krajden Haratz, Alon Peled, Boris Weizman, Liat Gindes, Mordechai Tamarkin, Dorit Lev, Dvora Kidron, Liat Ben-Sira, Gustavo Malinger, Tally Lerman-Sagie, Zvi Leibovitz
OBJECTIVE: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA). METHODS: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed. RESULTS: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals...
June 17, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28624447/enhanced-first-trimester-screening-for-trisomy-21-with-contingent-cell-free-fetal-dna-a-comparative-performance-and-cost-analysis
#10
Tianhua Huang, Wendy S Meschino, Mari Teitelbaum, Shelley Dougan, Nan Okun
OBJECTIVE: Prenatal screening for trisomy 21 is a standard of care. Emerging cell-free fetal DNA (cffDNA) technologies can improve screening performance, but they are expensive. This study was conducted to propose a contingent screening model that would incorporate cffDNA technology, would remain affordable, and could be applied equitably in a publically funded system. METHODS: Using performance and cost parameters from published literature, four prenatal screening strategies were compared...
June 14, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28621806/inequalities-in-uptake-of-prenatal-screening-according-to-ethnicity-and-socio-economic-status-in-the-four-largest-cities-of-the-netherlands-2011-2013
#11
Anke G Posthumus, Ingrid A Peters, Gerard J Borsboom, Maarten F C M Knapen, Gouke J Bonsel
OBJECTIVES: In the Netherlands, all women are claimed to have equal access to prenatal screening (PS). Prior research demonstrated substantial inequalities in PS uptake associated with socioeconomic status (SES) and ethnic background. The suggested pathway was a lack of intention to participate in PS among these subgroups. We studied the background of inequalities in PS participation, challenging intention heterogeneity as the single explanation. METHODS: Multivariable logistic regression analyses of the national PS registry, focusing on the four largest cities in the Netherlands (n= 4578, years 2011-2013), stratified by SES...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28617944/inequity-in-timing-of-prenatal-screening-in-new-zealand-who-are-our-most-vulnerable
#12
Olivia Payne, Avinesh Pillai, Michelle Wise, Peter Stone
BACKGROUND: In New Zealand (NZ), Maori and Pacific women are less likely to complete prenatal screening for Down's syndrome and other aneuploidies than other ethnic groups. Young women <20 have low rates of completed screening compared with women >20 years. Women living in deprived areas have lower completed screen rates than women living in more affluent areas. Combined first trimester screening has a superior sensitivity (85%) compared with second trimester screening (75%) for trisomy 21...
June 15, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28617416/genome-wide-cfdna-screening-clinical-laboratory-experience-with-the-first-10-000-cases
#13
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk
PurposeInvasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening methods, especially when using cell-free DNA (cfDNA), are often limited to reporting only on trisomies 21, 18, and 13 and sex chromosome aneuploidies. This can leave a significant number of chromosomal and subchromosomal copy-number variations undetected. In 2015, we launched a new genome-wide cfDNA screening test that has the potential to narrow this detection gap...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28616831/invasive-prenatal-diagnostic-testing-recommendations-are-influenced-by-maternal-age-statistical-misconception-and-perceived-liability
#14
Talya Miron-Shatz, Sivan R Rapaport, Naama Srebnik, Yaniv Hanoch, Jonina Rabinowitz, Glen M Doniger, Linda Levi, Jonathan J Rolison, Avi Tsafrir
Funding policy and medico-legal climate are part of physicians' reality and might permeate clinical decisions. This study evaluates the influence of maternal age and government funding on obstetrician/gynecologist recommendation for invasive prenatal testing (i.e. amniocentesis) for Down syndrome (DS), and its association with the physician's assessment of the risk of liability for medical malpractice unless they recommend amniocentesis. Israeli physicians (N = 171) completed a questionnaire and provided amniocentesis recommendations for women at 18 weeks gestation with normal preliminary screening results, identical except aged 28 and 37...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28614992/preimplantation-genetic-screening
#15
Joyce C Harper
Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates...
January 1, 2017: Journal of Medical Screening
https://www.readbyqxmd.com/read/28614867/indications-for-invasive-prenatal-testing-before-and-after-noninvasive-prenatal-screening
#16
Lisa A Gill, Tracy L Prosen
No abstract text is available yet for this article.
June 14, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28614251/analysis-of-down-syndrome-failed-to-be-diagnosed-after-prenatal-screening-a-multicenter-study
#17
Tao Jiang, Jie Ding, Xiao-Qing Zhang, Xiao-Juan Zhang, Bin Zhang, Ting Wang, Bin Yu
To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS. In this multicenter study, we collected the missed cases from 3 prenatal diagnosis centers and analyzed their characters. A total of 126 DS babies failed to be diagnosed after prenatal screening. Their mothers accepted the prenatal screening in second trimester. We collected the mothers' blood and detected the levels of alpha-fetoprotein (AFP) and the free beta subunit of human chorionic gonadotropin (fβhCG) by time-resolved fluoroimmunoassay...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28611934/etiology-and-perinatal-outcome-of-nonimmune-hydrops-fetalis-in-southern-china
#18
Sheng He, Linlin Wang, Pingshan Pan, Hongwei Wei, Dahua Meng, Juan Du, Xiaoxian Tian, Chenguang Zheng, Xiaoxia Qiu, Guoyang Luo
Objective  This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China. Methods  All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and analyzed. Results  Total 482 cases of NIHF were identified during the study period. The most common cause of NIHF was hemoglobin (Hb) Bart's disease (61.8%), followed by chromosomal abnormalities (13.5%), idiopathic etiology (13.1%), cardiac abnormalities (6.4%), and others (5...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28609804/psychometric-properties-of-brief-screening-tests-for-alcohol-use-disorders-during-pregnancy-in-argentina
#19
Mariana Beatriz López, Aldana Lichtenberger, Karina Conde, Mariana Cremonte
Background Considering the physical, mental and behavioral problems related to fetal alcohol exposure, prenatal clinical guides suggest a brief evaluation of alcohol consumption during pregnancy to detect alcohol intake and to adjust interventions, if required. Even if any alcohol use should be considered risky during pregnancy, identifying women with alcohol use disorders is important because they could need a more specific intervention than simple advice to abstain. Most screening tests have been developed and validated in male populations and focused on the long-term consequences of heavy alcohol use, so they might be inappropriate to assess consumption in pregnant women...
June 13, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28608920/facial-curvature-detects-and-explicates-ethnic-differences-in-effects-of-prenatal-alcohol-exposure
#20
Michael Suttie, Leah Wetherill, Sandra W Jacobson, Joseph L Jacobson, H Eugene Hoyme, Elizabeth R Sowell, Claire Coles, Jeffrey R Wozniak, Edward P Riley, Kenneth L Jones, Tatiana Foroud, Peter Hammond
BACKGROUND: Our objective is to help clinicians detect the facial effects of prenatal alcohol exposure (PAE) by developing computer based tools for screening facial form. METHODS: All 415 individuals considered were evaluated by expert dysmorphologists and categorized as 1) healthy control (HC), 2) fetal alcohol syndrome (FAS) or 3) heavily prenatally alcohol exposed (HE) but not clinically diagnosable as FAS. 3D facial photographs were used to build models of facial form to support discrimination studies...
June 13, 2017: Alcoholism, Clinical and Experimental Research
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