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Aim: To analyse how midwives communicate Down syndrome screening information and explore whether women's understanding of this information is influenced by midwives' communicative style. Methods: Midwives (n=16) and women (n=100) were recruited from a regional NHS unit in the UK. A mixed-methods design encompassed two components; audio-recorded antenatal consultations to assess midwives' communication and quantitative surveys to assess women's understanding. Findings: Midwife communication was not significantly related to women's understanding of Down syndrome screening information. However, qualitative thematic analysis revealed midwife communication was often insufficient in fully describing Down syndrome and screening. Communication was not very interactive, midwives dominated conversations and did not sufficiently check women's knowledge/understanding. Conclusions: Policymakers need to consider these findings. Deficits in midwife communication in relation to established screening practice needs to be addressed through additional training ahead of full implementation of non-invasive prenatal testing into midwifery practice. [ABSTRACT FROM AUTHOR]

Objective: To report on the routine clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13, contingent on the results of the first-trimester combined test in twin pregnancy.Methods: Screening for trisomies 21, 18 and 13 was carried out in 959 twin pregnancies by assessment of a combination of maternal age, fetal nuchal translucency thickness, and serum free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A at 11-13 weeks' gestation in two UK NHS hospitals. Women in the high-risk group (risk ≥ 1 in 100) were offered the option of invasive testing, cfDNA testing or no further testing, and those in the intermediate-risk group (risk 1 in 101 to 1 in 2500 in the first phase of the study and 1 in 101 to 1 in 500 in the second phase) were offered cfDNA or no further testing. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or examination of the neonates.Results: In 42 (4.4%) of the 959 pregnancies, there was termination, miscarriage or stillbirth with no known karyotype or there was loss to follow-up. The 917 pregnancies with known trisomic status of both twins included six that were discordant for trisomy 21, four that were discordant for trisomy 18 and 907 with no trisomy 21, 18 or 13. Following combined screening, 47 (5.1%), 203 (22.1%) and 667 (72.7%) of the pregnancies were classified as high risk, intermediate risk and low risk, respectively. The high-risk group included five (83.3%) cases of trisomy 21 and three (75.0%) of trisomy 18. The cfDNA test was carried out in 224 pregnancies and results were provided in 214 (95.5%); this group included six pregnancies with trisomy 21, three with trisomy 18 and 206 with no trisomy 21, 18 or 13. The cfDNA test classified correctly as screen positive all six cases of trisomy 21 and two of the three with trisomy 18, and as screen negative for each of the trisomies all 206 unaffected pregnancies. Contingent screening led to prenatal detection of all cases of trisomy 21 and three of four with trisomy 18.Conclusion: This study has demonstrated the feasibility of introducing cfDNA testing, contingent on the results of the first-trimester combined test for major trisomies, in a routine population of twin pregnancies. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Down screening has been available within clinical practice for over 50 years during which time significant innovation and exciting new advances have improved the accuracy and safety of screening, and improved choice for women who are considering antenatal screening for Down syndrome. The UK National Screening Committee is responsible for setting the national standards regarding screening and it has steadily and consistently directed and facilitated an increase in the detection rate whilst minimising the screen positive rate of Down syndrome screening. This has reduced the number of false positive results and consequently the number of invasive diagnostic procedures and their related miscarriages. Non-invasive pre-natal testing (NIPT) using cell free DNA is a rapidly evolving field and it will soon be incorporated into the existing NHS antenatal screening programme for aneuploidy. It will be offered to women who receive a ‘high risk’ result following current screening methods (combined test or quadruple test), and will further reduce the number of invasive tests performed, whilst maintaining current detection rates. [ABSTRACT FROM AUTHOR]

Objectives: Cell-free DNA (cfDNA) analysis of maternal blood for detection of trisomies 21, 18 and 13 is superior to other methods of screening but is expensive. One strategy to maximize performance at reduced cost is to offer cfDNA testing contingent on the results of the first-trimester combined test that is used currently. The objectives of this study were to report the feasibility of implementing such screening, to examine the factors affecting patient decisions concerning their options for screening and decisions on the management of affected pregnancies and to report the prenatal diagnosis of fetal trisomies and outcome of affected pregnancies following the introduction of contingent screening.Methods: We examined routine clinical implementation of contingent screening in 11,692 singleton pregnancies in two National Health Service (NHS) hospitals in the UK. Women with a risk ≥ 1 in 100 (high-risk group) were offered options of invasive testing, cfDNA testing or no further testing, and those with a risk between 1 in 101 and 1 in 2500 (intermediate-risk group) were offered cfDNA testing or no further testing. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or by examination of the neonates.Results: In the study population of 11,692 pregnancies, there were 47 cases of trisomy 21 and 28 of trisomies 18 or 13. Screening with the combined test followed by invasive testing for all patients in the high-risk group potentially could have detected 87% of trisomy 21 and 93% of trisomies 18 or 13, at a false-positive rate of 3.4%; the respective values for cfDNA testing in the high- and intermediate-risk groups were 98%, 82% and 0.25%. However, in the high-risk group, 38% of women chose invasive testing and 60% chose cfDNA testing; in the intermediate-risk group 92% opted for cfDNA testing. A prenatal diagnosis was made in 43 (91.5%) pregnancies with trisomy 21 and all pregnancies with trisomies 18 or 13. In many affected pregnancies the parents chose to avoid testing or termination and 32% of pregnancies with trisomy 21 resulted in live births.Conclusions: Screening for fetal trisomies by cfDNA analysis of maternal blood, contingent on the results of the combined test, can be implemented easily in routine clinical practice. In the high-risk group from the combined test, most but not all women chose cfDNA testing rather than invasive testing. Performance of screening for trisomy 21 was superior by the cfDNA test than by the combined test. However, prenatal detection of trisomies and pregnancy outcome depend not only on performance of screening tests but also on parental choice. [ABSTRACT FROM AUTHOR]

UK policies emphasize the importance of providing balanced and accurate information on Down's syndrome to pregnant women and supporting them to make informed choices about screening, diagnostic tests and, ultimately, whether or not to continue their pregnancy. This article presents key findings of a study that investigated the experiences of new parents of babies with Down's syndrome and the views of midwives and antenatal screening co-ordinators (ASCs) on what information and support is provided during pregnancy and at birth. While midwives/ASCs believe they provide information and support, the experience of parents indicates variability in how effectively these professionals deliver information to mothers and support them in making informed choices. This study reinforces the need for further training on what it is like to live with Down's syndrome in today's world for health professionals working in maternity services. [ABSTRACT FROM AUTHOR]

This article reviews the development and organization of the Down's Syndrome Screening Policy by the National Screening Committee, outlining the implications for sonographer training and practice, and for antenatal ultrasound service provision. [ABSTRACT FROM AUTHOR]

Objective To ascertain, by means of a questionnaire, women's preferences for four different approaches to prenatal screening for Down syndrome. Methods Women attending antenatal clinics at six UK maternity units were asked to put in order of preference four different approaches to screening for Down syndrome all of which had the same false positive rate of 5%. The options were: (1) first-trimester testing, 90% detection of Down syndrome with results available in 1 h at one-stop clinics for the assessment of risk (OSCAR); (2)first-trimester testing, 90% detection and results available within 2–3 days (combined screening); (3) first-trimester testing plus second-trimester testing, 93% detection and results available within 2–3 days of second test (integrated testing); (4)second-trimester testing, 75% detection and results available within 2–3 days. Results Over 1100 women attending antenatal clinics at six maternity units across the UK returned the questionnaire. A total of 75% of women selected a first-trimester test (option 1 or option 2) as their first choice with 68.2% expressing a preference for the OSCAR approach and a further 6.8% for combined screening. Twenty-four percent of women opted for integrated testing as their first choice with only 1% expressing a preference for second-trimester screening. Conclusions A first-trimester test is preferred by the majority of women over a test with marginally higher detection rate that delivers results later in pregnancy. Timing and rapid reporting of results appear to influence women's choice of test. [ABSTRACT FROM AUTHOR]

Examines the antenatal screening programs of the UK National Screening Committee. Variations of local screening practice on Down's syndrome and neural tube defect; View of the Maternity Strategy group on align services for Down's syndrome screening; Suggestion of generic approach on research-practice gap.

Examines the viability of a national register for Down Syndrome patients in Great Britain. Implication of the register for evaluating prenatal screening for the syndrome; Diagnostic methods for the prevalence of the syndrome; Environmental factors affecting the prevalence of the syndrome.

A personal narrative is presented which explores the author's experience of making choices in antenatal screening for Down's syndrome.

Presents the results of a survey concerning the existence and quality of written antenatal screening policies in the Great Britain. Problems with antenatal care in Great Britain including poor record keeping; Report of the problems to the Department of Health; Issue of screening patients for risk of having children with Down's syndrome.

The article presents a discussion on screening pregnant women for Down's syndrome. It was found that maternal blood of those whose fetus have Down's syndrome have alterations in biochemical markers. Biochemical screening of pregnant women for Down's syndrome was surrounded by controversies. One of which is whether prenatal screening for the syndrome is socially acceptable and ethical. Another issue is the cost of maternal serum screening. According to the author, the British National Health Service (NHS) should offer the screening exam.

Investigates the trends in prenatal diagnosis through the analysis of national register of Down syndrome in Great Britain. Description of methods of data collection and processing; Measurement of alpha fetoprotein concentrations; Use of three serum tests to calculate risk of prenatal diseases.

This section offers news briefs related to studies about mothers and babies. Research presented at an alcohol and pregnancy conference in Brussels, Belgium showed that mothers in Ireland and Great Britain drink more heavily during pregnancy than those in other European Union (EU) countries. A Swedish study revealed that babies born to mothers who smoke during pregnancy have a greater risk of developing asthma. The number of babies born in the U.S. with Down's syndrome has been decreasing following the introduction of prenatal testing.

Provides information on the antenatal screening test for Down's syndrome in Great Britain. Description of the test; Statement issued by Nick Wald, professor of environmental and preventive medicine at the Wolfson Institute of Preventive Medicine; Disadvantage of the test.