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antenatal screening for Downs syndrome

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https://www.readbyqxmd.com/read/28429561/cfdna-screening-performance-accounting-for-and-reducing-test-failures
#1
EDITORIAL
H Cuckle
Over several decades antenatal screening for Down's syndrome steadily evolved from the initial concept of a single second trimester maternal serum marker to complex protocols involving the combination of multiple serum and fetal ultrasound markers, determined within-trimester or sequentially across-trimesters.
April 21, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28421145/a-framework-for-describing-the-influence-of-service-organisation-and-delivery-on-participation-in-fetal-anomaly-screening-in-england
#2
Hyacinth O Ukuhor, Janet Hirst, S José Closs, William J Montelpare
Objective. The aim of this research was to explore the influence of service organisation and delivery on providers and users' interactions and decision-making in the context of Down's syndrome screening. Methods. A qualitative descriptive study involving online interviews conducted with a purposive sample of 34 community midwives, 35 pregnant women, and 15 partners from two maternity services in different health districts in England. Data were analysed using a combination of grounded theory principles and content analysis and a framework was developed...
2017: Journal of Pregnancy
https://www.readbyqxmd.com/read/28369907/who-is-and-isn-t-having-babies-with-down-syndrome-in-western-sydney-a-ten-year-hospital-cohort-study
#3
Rebecca M Moses, James H W Brown, Dale C Wright, Hayley Diplock, Sarah J Melov, Therese Mary McGee
BACKGROUND: Screening for Down syndrome (DS) is a key component of antenatal care, recommended to be universally offered to women irrespective of age or background. Despite this, the diagnosis of DS is often not made until the neonatal period. AIMS: To retrospectively describe and compare the differences in populations with an antenatal diagnosis (AD) and neonatal diagnosis (ND) of DS and to explore why an antenatal diagnosis was not made. MATERIALS AND METHODS: The cohorts were women cared for at Westmead Hospital whose pregnancy received a diagnosis of DS between 2006 and 2015...
March 29, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28295159/first-and-second-trimester-serum-tests-with-and-without-first-trimester-ultrasound-tests-for-down-s-syndrome-screening
#4
REVIEW
S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic
BACKGROUND: Down's syndrome occurs when a person has three copies of chromosome 21 (or the specific area of chromosome 21 implicated in causing Down's syndrome) rather than two. It is the commonest congenital cause of mental disability. Non-invasive screening based on biochemical analysis of maternal serum or urine, or fetal ultrasound measurements, allows estimates of the risk of a pregnancy being affected and provides information to guide decisions about definitive testing.  Before agreeing to screening tests, parents need to be fully informed about the risks, benefits and possible consequences of such a test...
March 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28261902/estimates-of-live-birth-prevalence-of-children-with-down-syndrome-in-the-period-1991-2015-in-the-netherlands
#5
G de Graaf, J J M Engelen, A C J Gijsbers, R Hochstenbach, M J V Hoffer, A J A Kooper, B Sikkema-Raddatz, M I Srebniak, A M F van der Kevie-Kersemaekers, L J C M van Zutven, E Voorhoeve
BACKGROUND: In Western countries, increasing maternal age has led to more pregnancies with a child with Down syndrome (DS). However, prenatal screening programs, diagnostic testing and termination of pregnancy influence the actual DS live birth (LB) prevalence as well. The aim of this study is to examine these factors in the Netherlands for the period 1991-2015. In our study, we establish a baseline for DS LB prevalence before non-invasive prenatal testing will be made available to all pregnant women in the Netherlands in 2017...
March 5, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27889681/change-over-time-in-women-s-views-and-experiences-of-maternity-care-in-england-1995-2014-a-comparison-using-survey-data
#6
Jane Henderson, Maggie Redshaw
BACKGROUND: there have been changes in maternity care policy over the last 20 years and women's experience, continuity and satisfaction with care have become more prominent. However there has been no research examining changes over time in women's reported experience. METHODS: this study used secondary analysis of data collected in four postal surveys of maternity care experiences in 1995, 2006, 2010 and 2014. In each case women who had delivered in a specified time period in England were randomly sampled and sent a questionnaire three months after the birth...
January 2017: Midwifery
https://www.readbyqxmd.com/read/27762970/down-s-screening-the-right-to-informed-choice
#7
Jane Fisher
Antenatal screening for Down's syndrome, and particularly the potential NHS implementation of the more sensitive cell-free DNA screening known as NIPT (non-invasive prenatal testing), has had intense media coverage recently, prompted by the BBC2 documentary A World Without Down's Syndrome.
October 12, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27553870/time-and-travel-costs-incurred-by-women-attending-antenatal-tests-a-costing-study
#8
Talitha I Verhoef, Rebecca Daley, Laura Vallejo-Torres, Lyn S Chitty, Stephen Morris
OBJECTIVE: to estimate the costs to women, their friends and family for different antenatal tests in the Down's syndrome (DS) screening pathway. DESIGN: questionnaire-based costing study. SETTING: eight maternity clinics across the UK. PARTICIPANTS: pregnant women (n=574) attending an appointment for DS screening, NIPT or invasive testing between December 2013 and September 2014. MEASUREMENTS: using data collected from the questionnaires we calculated the total costs to women by multiplying the time spent at the hospital and travelling to and from it by the opportunity costs of the women and accompanying person and adding travel and childcare costs...
September 2016: Midwifery
https://www.readbyqxmd.com/read/27295145/-women%C3%A2-s-preferences-for-prenatal-tests-a-discrete-choice-experiment-to-contrast-noninvasive-prenatal-testing-with-current-invasive-tests
#9
Sigrun Ingvarsdottir, Vigdis Stefansdottir, Helga Gottfredsdottir
INTRODUCTION: Prenatal screening in early pregnancy is offered to all women in Iceland. In the case of an increased risk, invasive diagnostic test with 1% risk of fetal loss is offered. Recent developments include an exploration of a cell free fetal DNA in maternal plasma. The aim of this study was to explore factors that are of importance to pregnant women and professionals in fetal diagnosis. MATERIAL AND METHODS: A questionnaire incorporating a discrete choice experimental design was used...
June 2016: Læknablađiđ
https://www.readbyqxmd.com/read/27252035/trends-in-congenital-heart-defects-in-infants-with-down-syndrome
#10
Sofie Bergström, Hanna Carr, Gunnar Petersson, Olof Stephansson, Anna-Karin Edstedt Bonamy, Anders Dahlström, Cecilia Pegelow Halvorsen, Stefan Johansson
BACKGROUND: As a result of antenatal screening, abortion of fetuses with Down syndrome has become increasingly common. Little is known about the cardiovascular phenotype in infants with Down syndrome born today. METHODS: Population-based cohort study based on national health registers including 2588 infants with Down syndrome, live-born in Sweden from 1992 to 2012. Risk ratios for congenital heart defects were calculated per 3-year period, adjusted for maternal age, parity, BMI, smoking, diabetes and hypertensive disease, and infant gender...
July 2016: Pediatrics
https://www.readbyqxmd.com/read/26864268/decision-making-for-non-invasive-prenatal-testing-for-down-syndrome-hong-kong-chinese-women-s-preferences-for-individual-vs-relational-autonomy
#11
J Y C Lau, H Yi, S Ahmed
Individual autonomy in antenatal screening is internationally recognized and supported. Policy and practice guidelines in various countries place emphasis on the woman's right to make her own decision and are related to concepts such as self-determination, independence, and self-sufficiency. In contrast, the dominant perspective in Chinese medical ethics suggests that the family is pivotal in making medical decisions, hence providing support for relational autonomy. This study explored Hong Kong Chinese pregnant women's preferences for individual vs relational autonomy for non-invasive prenatal testing (NIPT) for Down syndrome...
May 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26790709/antenatal-reflex-dna-screening-for-trisomy-18-and-trisomy-13-in-addition-to-down-s-syndrome
#12
Jonathan P Bestwick, Nicholas J Wald
OBJECTIVE: Antenatal reflex DNA screening for Down's syndrome has a high screening performance. We aimed to determine the performance of trisomy 18 and trisomy 13 reflex DNA screening when added to Down's syndrome screening. METHODS: In our modelled screening protocol, women provide two samples: a serum sample for a Combined test and a plasma sample for a possible DNA test. Women with Down's syndrome, trisomy 18, or trisomy 13 Combined test risks above a single cut-off have a reflex DNA test using the plasma sample, without the need to recall them to collect another sample and provide counselling...
January 20, 2016: Journal of Medical Screening
https://www.readbyqxmd.com/read/26617074/first-trimester-serum-tests-for-down-s-syndrome-screening
#13
REVIEW
S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic
BACKGROUND: Down's syndrome occurs when a person has three, rather than two copies of chromosome 21; or the specific area of chromosome 21 implicated in causing Down's syndrome. It is the commonest congenital cause of mental disability and also leads to numerous metabolic and structural problems. It can be life-threatening, or lead to considerable ill health, although some individuals have only mild problems and can lead relatively normal lives. Having a baby with Down's syndrome is likely to have a significant impact on family life...
November 30, 2015: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/26511759/prevalence-prenatal-screening-and-neonatal-features-in-children-with-down-syndrome-a-registry-based-national-study
#14
MULTICENTER STUDY
Tatjana Glivetic, Urelija Rodin, Milan Milosevic, Diana Mayer, Boris Filipovic-Grcic, Maida Seferovic Saric
BACKGROUND: Down syndrome (DS) is one of the most common chromosomal abnormalities among newborns. In recent years advances in perinatal and neonatal care have improved chance of survival for the children with DS. The objective of this Registry-Based study was to get more accurate data of DS prevalence with evaluation of antenatal screening, neonatal and maternal features among total births in Croatia from 2009 to 2012. METHODS: We used retrospectively collected data for DS newborns from the medical birth database and perinatal mortality database for the period of 2009-2012...
2015: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/26437791/screening-for-down-syndrome-in-the-second-trimester-of-pregnancy
#15
Peter O'Leary, Susannah Maxwell, Michael Sinosich, Kerry DeVoss, Janice Fletcher, Enzo Ranieri, Michael P Metz
Antenatal screening for fetal anomalies has provided women and their partners with information to make reproductive choices based on the risk of serious chromosomal or structural defects since the 1990s. Alternative tests include first-trimester screening (combined ultrasound and maternal serum markers), second-trimester maternal serum markers and noninvasive cell-free DNA testing. The recent recommendations by the Royal Australian and New Zealand College of Obstetrics and Gynaecology and the Human Genetics Society of Australasia against second-trimester triple testing are based on unsound performance criteria, raise several contestable issues around access and equity and challenge the principles of governments providing affordable options...
February 2016: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/26348779/anxiety-depression-and-attachment-before-and-after-the-first-trimester-screening-for-down-syndrome-comparing-couples-who-undergo-art-with-those-who-conceive-spontaneously
#16
COMPARATIVE STUDY
Laura Udry-Jørgensen, Joëlle Darwiche, Marc Germond, Dorothea Wunder, Yvan Vial
OBJECTIVES: This study's aim was to describe the emotional status of parents to be before and after the first-trimester combined prenatal screening test. METHODS: One hundred three couples participated, of which 52 had undergone an in vitro fertilization/intracytoplasmic sperm injection treatment [assisted reproductive technology (ART)] and 51 had conceived spontaneously. Participants completed the state scale of the State-trait Anxiety Inventory, the Edinburgh Depression Scale, and the Maternal and Paternal Antenatal Attachment Questionnaire before the first-trimester combined prenatal screening test at around 12 weeks of gestational age (T1) and just after receiving the results at approximately 14 weeks of gestational age (T2)...
December 2015: Prenatal Diagnosis
https://www.readbyqxmd.com/read/26279318/midwives-and-information-on-prenatal-testing-with-focus-on-down-syndrome
#17
Ellen Ternby, Charlotta Ingvoldstad, Göran Annerén, Ove Axelsson
OBJECTIVE: To investigate midwives' knowledge of prenatal diagnosis especially Down syndrome, information given by midwives to parents, expectant parents' requests for information and how midwives perceive their own competence to give information. METHOD: A cross-sectional, prospective study with a questionnaire was completed by 64 out of 70 midwives working in the outpatient antenatal care in Uppsala County, Sweden. RESULTS: The midwives had varying and in some areas low levels of knowledge about Down syndrome...
December 2015: Prenatal Diagnosis
https://www.readbyqxmd.com/read/26211510/reflex-antenatal-dna-screening-for-down-syndrome
#18
LETTER
Nicholas J Wald, Wayne J Huttly, Jonathan P Bestwick, Joe Aquilina, Elisabeth Peregrine
No abstract text is available yet for this article.
November 2015: Prenatal Diagnosis
https://www.readbyqxmd.com/read/26071456/socioeconomic-inequalities-in-pregnancy-outcome-associated-with-down-syndrome-a-population-based-study
#19
Judith L S Budd, Elizabeth S Draper, Robyn R Lotto, Laura E Berry, Lucy K Smith
OBJECTIVE: To investigate socioeconomic inequalities in outcome of pregnancy associated with Down syndrome (DS) compared with other congenital anomalies screened for during pregnancy. DESIGN AND SETTING: Retrospective population-based registry study (East Midlands & South Yorkshire in England). PARTICIPANTS: All registered cases of DS and nine selected congenital anomalies with poor prognostic outcome (the UK Fetal Anomaly Screening Programme (FASP)9) with an end of pregnancy date between 1 January 1998 and 31 December 2007...
September 2015: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/25995284/undetectable-pregnancy-associated-plasma-protein-a-in-antenatal-serum-down-s-syndrome-screening-a-case-of-assay-interference
#20
C Williams, K Hambridge, M Petchey, J A Martin, K Spencer
Serum pregnancy-associated plasma protein-A (PAPP-A) is measured in Down's syndrome screening, routinely offered to women in pregnancy. We present the case of an undetectable pregnancy-associated plasma protein-A concentration on the PerkinElmer AutoDELFIA system where immunoassay interference was suspected. Investigations performed, including dilution and recovery studies and antibody-blocking tube incubations, all yielded serum pregnancy-associated plasma protein-A concentrations of <25 mU/L. Pregnancy-associated plasma protein-A was also undetectable on two alternative pregnancy-associated plasma protein-A assays...
September 2015: Annals of Clinical Biochemistry
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