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antenatal screening for Downs syndrome

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Gareth M Thomas
This article is based on an ethnographic study of prenatal screening for Down syndrome in two British health care institutions. Drawing on observations of everyday hospital life and interviews with health care professionals, I identify how a discussion of Down syndrome is avoided during prenatal screening consultations. This relative silence is created and upheld because of three things: (1) the British public is considered as knowing what Down syndrome is; (2) the organization of care dictates that the condition is not classified as important enough to justify an explanation within consultations; and (3) professionals frequently admit to having minimal knowledge of Down syndrome...
June 2016: Medical Anthropology Quarterly
Nicholas J Wald, Jonathan P Bestwick
OBJECTIVE: Maternal plasma DNA analysis has a high but imperfect antenatal Down's syndrome screening performance. We aimed to determine the effect of combining DNA testing with current tests. METHODS: In our modelled screening protocol, women provide two samples, one serum sample for a Combined test, and a plasma sample for a possible DNA test. Women with a Combined test risk above a specified level have a DNA test using the plasma sample without the need to recall them for another sample and counselling (ie...
December 2015: Journal of Medical Screening
Ray K Iles, Maryam E Shahpari, Howard Cuckle, Stephen A Butler
BACKGROUND: The established methods of antenatal screening for Down syndrome are based on immunoassay for a panel of maternal serum biomarkers together with ultrasound measures. Recently, genetic analysis of maternal plasma cell free (cf) DNA has begun to be used but has a number of limitations including excessive turn-around time and cost. We aimed to develop an alternative method based on urinalysis that is simple, affordable and accurate. METHOD: 101 maternal urine samples sampled at 12-17 weeks gestation were taken from an archival collection of 2567 spot urines collected from women attending a prenatal screening clinic...
2015: Clinical Proteomics
Jonathan P Bestwick, Nicholas J Wald
OBJECTIVE: To compare the performance of antenatal screening for Down's syndrome (DS), trisomy 18 (T18), and trisomy 13 (T13) using a single risk of being affected by one of the three disorders, with the performance using separate risks for each disorder. METHODS: Screening performance was estimated using Monte Carlo simulation based on published parameters for the Integrated, Combined, and Quadruple tests. Detection rates (DRs) were calculated using a single risk and separate risks for each disorder at given false-positive rates (FPRs)...
June 2015: Journal of Medical Screening
Serene P T Thain, Christina T H Choi, George S H Yeo
INTRODUCTION: Aneuploidy screening is widely practised in the field of obstetrics in current times. This study thus aims to gain an insight on pregnant women's knowledge and risk perception of Down syndrome and first trimester screening (FTS), as well as their views on various potential pregnancy outcomes and how these may affect their decision-making processes. MATERIALS AND METHODS: A cross-sectional questionnaire-based qualitative study of consecutive 50 women choosing to undergo FTS at KK Women's and Children's Hospital (KKH), Singapore was conducted...
February 2015: Annals of the Academy of Medicine, Singapore
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