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Purpose: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families' decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and preimplantation diagnosis for HD in the United Kingdom since services commenced., Methods: Long-term UK-wide prospective case record-based service evaluation in 23 UK Regional Genetic Centres 1988-2015, and four UK PGD centers 2002-2015., Results: From 1988 to 2015, 479 prenatal diagnoses were performed in the UK for HD. An exclusion approach was used in 150 (31%). The annual rate of HD prenatal diagnosis has remained around 18 (3.5/million) over 27 years, despite a steady increase in the use of PGD for HD since 2002., Conclusion: Although increasing number of couples are choosing either direct or exclusion PGD to prevent HD in their offspring, both direct and exclusion prenatal diagnosis remain important options in a health system where both PGD and prenatal diagnosis are state funded. At-risk couples should be informed of all options available to them, preferably prepregnancy.

Objectives: To estimate the potential impact of the addition of culture-based screening for group B streptococcus (GBS) carriage in pregnancy to a risk-based prevention policy in the UK. We aimed to establish agreement within a multidisciplinary group of key stakeholders on the model input parameters., Design: Deterministic model using a consensus approach for the selection of input parameters., Setting and Participants: A theoretical annual cohort of 711 999 live births in the UK (excluding births by elective caesarean section)., Interventions: Culture-based screening for GBS at 35-37 weeks of pregnancy added to the recommended risk-based prevention policy in place on the date of modelling., Outcome Measures: Outcomes assessed included use of intrapartum antibiotic prophylaxis (IAP), early onset GBS (EOGBS), EOGBS mortality, severe EOGBS-related morbidity and maternal penicillin anaphylaxis., Results: With no prophylaxis strategy, the model estimated that there would be 421 cases of culture positive EOGBS in a year (0.59/1000 live births). In the risk-based prophylaxis scenario, 30 666 women were estimated to receive IAP and 70 cases of EOGBS were prevented. Addition of screening resulted in a further 96 260 women receiving IAP and the prevention of an additional 52 to 57 cases of EOGBS. This resulted in the prevention of three EOGBS deaths and four cases of severe disability. With screening, an additional 1675 to 1854 women receive IAP to prevent one EOGBS case and 24 065 to 32 087 receive IAP to prevent one EOGBS death., Conclusions: The evidence base available for a broad range of model input parameters was limited, leading to uncertainty in the estimates produced by the model. Where data was limited, the model input parameters were agreed with the multidisciplinary stakeholder group, the first time this has been done to our knowledge. The main impact of screening is likely to be on the large group of low-risk women where the clinical impact of EOGBS tends to be less severe. This model suggests that the reduction in mortality and severe disability due to EOGBS with antenatal GBS screening is likely to be very limited, with a high rate of overdetection and overuse of antibiotics., Competing Interests: Competing interests: CP chaired the expert group. JM and DB were both employees of the UK National Screening Committee at the time of preparation of the model. AW is an employee of Bazian Ltd. who received payment to develop the model and write up the project through contracts with the UK National Screening Committee. Bazian Ltd. have also been paid to carry out other literature searches, reviews and models for the National Screening Committee, including reviews of the evidence on antenatal GBS screening. Bazian Ltd. is part of The Economist Group, and holds contracts with public and private organisations within the healthcare industry., (© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

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

The article reviews several websites including www.iofbonehealth.org from International Osteoporosis Foundation, www.arc-uk.org from Antenatal Results and Choices, a national charity in Great Britain, and http://fetalanomaly.screening.nhs.uk from National Health Service Fetal Anomaly Screening Programme.

The author comments on a study which examined the screening program for sickle cell disease established by Great Britain's National Health Service (NHS), by E. Dormandy and colleagues, published within the issue. The study compared three antenatal screening approaches which are parallel testing, sequential testing and midwifery care. The author explains the problems associated with screening for sickle cell disease and thalassaemia. She also highlights the implications of the study findings for general practitioners.

The article offers information on the rapid response report (RRR) summary for the pregnancy checking before the surgery according to the National Patient Safety Agency in Great Britain. It mentions that the safety report summary provides information with regards to the need to check pregnancy in patient as a precautionary measure to avoid risk that surgical interventions can bring. It refers an incident which occurred in Wales and England wherein the pregnant patients have undergone a surgery without documented pregnancy check that resulted to miscarriage. It states various recommendations for individual clinicians to ensure safe surgery which include offering of pregnancy test, referring to the antenatal services, and documented pregnancy test.

The article offers updates on the antenatal and newborn screening programmes for community practitioners in Great Britain. It notes that the screening aims to identify the people who are at risk of having particular disease or conditions without possessing any signs. In this regard, the National Screening Committee (NSC) is recognized to provide expert advice on screening as well as advising the ministers. It also mentions that the screening involves sickle cell disease, thalassaemia, foetal anomaly screening and hepatitis B.

Abstract: Regional congenital anomaly registers, while monitoring fewer than 50% of births in England and Wales, contribute almost 80% of the annual data entered into the National Congenital Anomaly System, with a notification rate over four times that from non-register areas. They employ multiple sources of ascertainment, producing high-quality data. This contrasts sharply with known deficiencies in a national system largely dependent on birth notifications. Details of anomalies in pre-24-week gestation deliveries and antenatal soft markers are unavailable from any other source. Members of the British Isles Network of Congenital Anomaly Registers contribute data to national, European and worldwide anomaly surveillance systems, pooling data on rare anomalies for research and providing valuable information for counselling, clinical management and audit. However, large areas of the UK remain outside register coverage, and most existing registers depend on precarious funding. Despite their acknowledged value, their long-term future is far from secure. [Copyright &y& Elsevier]

The article discusses testing used to screen for Down's syndrome in the United Kingdom. Serum testing has shown to be successful. Ultrasonography, when used in conjunction with serum screening, improves performance. Different combinations of screening tests can be packaged, including multiple biochemical tests, ultrasound plus biochemistry, or combined first and second trimester strategies. The most optimal combination in detecting chromosomal abnormalities is still in question. Chromosomes can also be assessed by cell culture and full karyotyping which is effective but more expensive.

Presents updates on issues related to medical care in Great Britain as of June 24, 2005. Significance of antenatal screening by practice nurses for hemoglobin disorders; Complaints filed by the British Medicines and Healthcare Products Regulatory Agency (MHRA) against Tesco and Superdrug; Concern of MHRA on the safety of drugs bought from Web sites.

Editorial. Calls for feedback on the review of personally held maternity records in Great Britain. Advantage of the formulation of a standardized record; Consideration of the mother, the baby and the carers; Emphasis on providing a high quality screening service for fetal anomalies.

Comments on the progress towards realistic expectations of patients, health professionals and policy-makers concerning prenatal testing in Great Britain. Problems of expectant mothers associated with the detection of fetal anomalies; Knowledge of health care providers of prenatal screening tests; Development of interactive decision-making aids.

Reports on a study which assessed whether a target of an 80 percent reduction in the proportion of vertical transmission of HIV to infants by December 2002 is likely to be achieved in Great Britain. Participants; Methods; Results; Opinion that improving rates of antenatal diagnosis should reduce the proportion of infected infants.

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 comments on issues concerning the lack of medical screening in Great Britain. It is estimated that 40% of the decline in the prevalence rate of neural tube defects (NTD) in Britain was due to antenatal screening. However, despite the availability of a highly effective and simple method of prevention, women continue to have pregnancies with NTD, because screening is not enough. With this regard, immediate implementation of national fortification programs is recommended.

Connecting theoretical discussion with empirical qualitative work, this article examines how sickle cell became a site of public health intervention in terms of 'racialised' risks. Historically, sickle cell became socio-politically allied to ideas of repair, in terms of the state improving the health of a neglected ethnic minority population. Yet, we elucidate how partial improvements in care and education arose alongside preventative public health screening efforts. Using qualitative research based in the United Kingdom, we show how a focus on collective efforts of repair can lie in tension with how services and individuals understand and negotiate antenatal screening. We illustrate how screening for sickle cell disorder calls into question narrative identity, undoing paradigms in which ethnicity, disablement and genetic impairment become framed. Research participants noted that rather than 'choices', it is 'risks' and their negotiation that are a part of discourses of modernity and the new genetics. Furthermore, while biomedical paradigms are rationally and ethically (de)constructed by participants, this was never fully engaged with by professionals, contributing to overall perception of antenatal screening as disempowering and leading to disengagement.

Provides information on the plan of the government of Great Britain to offer an antenatal HIV test which is aimed to reduce perinatal transmission of HIV. Statistics on the epidemic; Terms of the plan; Implication of the plan.

Relates the story of the Michael Drummond, a health services researcher concerned with the management of the National Health Service in England. Personal experiences surrounding the birth of their second child; Detail on the antenatal received by Dummond's wife; Conclusions drawn based on the experience.

Examines the effect of chorionic villus sampling and early pregnancy counselling on prenatal diagnosis in Great Britain. Diagnosis on high proportion of non-viable pregnancies; Risk of spontaneous abortion; Determination of abnormalities in fetus.

Discusses the uptake of early prenatal diagnosis by informed couples at risk for thalassaemia in Great Britain. Information about the disorder; The discrepancies that exists regarding prenatal diagnosis among minority ethnic communities; What must be done to improve services.

Reports on the audit of the process of antenatal screening for sickle cell disorders at a hospital in north London, England. Identification of women at risk; Comparison between primiparous and multiparous women; Use of prenatal diagnosis for sickle cell disorders.

Examines impact of technological advances on fetal medicine in Great Britain. Importance of antenatal care on reducing mortality; Effectivity of labor induction on pregnant women; Assessment on efficiency of antenatal cardiotocography on giving information on condition of fetus.

Investigates the prenatal diagnosis of hemoglobinopathies in Great Britain. Prevalence of sickle-cell anemia and thalassemia; Chemical analysis of the emoglobin of fetuses; Need for further blood sampling techniques for diagnosis.

Examines the feasibility of prenatal selection policy for the operative treatment of newborn babies with open spina bifida in Great Britain. Benefits of the selection policy; Possibility of distinguishing the severity of the disorder in the womb; Basis for the approval of the selection policy.

Focuses on the importance of antenatal screening for the prevention of syphilis in Great Britain. Demonstration of massive screening program on pregnant women; Prevalence of the disease in young people; Use of optimal treatment regimens to eradicate the treponemas in late pregnancy.

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.

Focuses on issues surrounding neonatal intensive-care units in Great Britain. Aim of ventilatory support for high-risk newborn babies; Patterns of neonatal referral; Role of regional centers in the assessment of fetal health in antenatal referrals.

Focuses on the importance of early antenatal attendance to women in Great Britain. Introduction and widespread adoption of antenatal screening procedures; Efficiency of ultrasound in the screening for gestational age; Availability of high-resolution real-time scanning equipment.

The author reflects on the regionalisation of perinatal care in Great Britain. He states that the low rate of perinatal care of extremely low gestational age neonates (ELGANs) is due to the fact that deliveries take place too rapidly to allow for an antenatal referral. He informs that in Great Britain, the Department of Health has introduced a system of neonatal networks to achieve a better regionalisation.

An abstract of the research paper "Unintended consequences of UK guidance for anomaly screening and invasive testing," by M. Alberry and colleagues is presented.

Background: Iron deficiency anaemia is a common problem in pregnancy despite national recommendations and guidelines for treatment. The aim of this study was to appraise the evidence against the UK National Screening Committee (UKNSC) criteria as to whether a national screening programme could reduce the prevalence of iron deficiency anaemia and/or iron deficiency in pregnancy and improve maternal and fetal outcomes., Methods: Search strategies were developed for the Cochrane library, Medline and Embase to identify evidence relevant to UK National Screening Committee (UKNSC) appraisal criteria which cover the natural history of iron deficiency and iron deficiency anaemia, the tests for screening, clinical management and evidence of cost effectiveness., Results: Many studies evaluated haematological outcomes of anaemia, but few analysed clinical consequences. Haemoglobin and ferritin appeared the most suitable screening tests, although future options may follow recent advances in understanding iron homeostasis. The clinical consequences of iron deficiency without anaemia are unknown. Oral and intravenous iron are effective in improving haemoglobin and iron parameters. There have been no trials or economic evaluations of a national screening programme for iron deficiency anaemia in pregnancy., Conclusions: Iron deficiency in pregnancy remains an important problem although effective tests and treatment exist. A national screening programme could be of value for early detection and intervention. However, high quality studies are required to confirm whether this would reduce maternal and infant morbidity and be cost effective.

The article informs about a study based on the assessment of the incidence of antenatal stroke in Great Britain and identification of risk factors associated with stroke during pregnancy. It mentions that information of the clinical features, survival and prognosis of antenatal strokes was used in the study. It adds that findings of the study reveal that the incidence of a stroke during pregnancy is low.

The article discusses a study which examined the effectiveness of antenatal screening for sickle cell disease and thalassaemia in primary care. The study included 1,708 pregnant women from deprived inner city areas in Great Britain. Study authors found that antenatal screening for sickle cell disease and thalassaemia in primary care increases the rate of women being screened before 10 weeks' gestation.

The article focuses on the recommendation of Great Britain National Institute for Health and Clinical Excellence (NICE) for a more flexible antenatal services, referencing to the report "The NICE Guideline on Pregnancy and Complex Social Factors."

The author argues in favor of offering a routine HIV testing in general practice in Great Britain. He cites several factors that contribute to the difficulty of promoting HIV testing across the country, such as difficult access of specialist services needed for pre-test counselling. He mentions developments that can be used to promote HIV testing including antiretrovirals and the success of antenatal testing. The author also asserts that HIV testing in general practice can be done because of the access to the whole population.

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.

The article focuses on a randomised controlled trial which examined whether continuous glucose monitoring (CGM) could improve glycaemic control in diabetic pregnant women and decrease infant macrosomia in diabetes antenatal clinics in Great Britain. Clinical intervention was CGM and standard antenatal care or standard care alone. CGM was administered in these participants every four to six weeks until 32 weeks of gestation.

The article reports on a study that examines the influence of socioeconomic factors on late initial attendance for antenatal care in Great Britain. The study which used a postal questionnaire, revealed that there was no statistically significant association with late first pregnancy related appointment and socio-economic status. Moreover, there was a significant association between late initial attendance and women who were born outside the country.

Latest surveillance data on rare conditions is published. [ABSTRACT FROM AUTHOR]

The article investigates on the evidence of antenatal benefits. Denis Walsh, obstetrics senior lecturer at University of Central Lancashire in Great Britain, has observed that women are involved in a massive uncontrolled experiments with unknown results. He believes that these should be stopped until the benefits or risk ratios are more clearly understood.

The article focuses on the significance of antenatal screening in Great Britain. Antenatal care marks the usually measured passage of most women through pregnancy to childbirth. Screening and the tests that form part of it are the signposts of pregnancy. Some women approach screening with trepidation and demand for accurate results. Through ultrasound, they could have a first real view on the baby.

This article reports on the world's first linked newborn and antenatal screening program for haemoglobinopathies that is being rolled out in England. The introduction of a national antenatal screening test is supposed to bring an end to surprise diagnoses among infants presenting with severe overwhelming infections and splenic crises, according to Allison Streetly, director of the NHS sickle cell and thalassaemia screening program.

Focuses on amniocentesis integrated care pathway. Assessment of fetal condition in pregnancy; Risk of miscarriage of a normal pregnancy.

Editorial. Comments on the Great Britain government's white paper on genetics. Recommendations that all pregnant women should be offered prenatal screening for Down syndrome; Subsequent counselling by a midwife to assist informed decision making; Public perception of handicapped individuals.

Reports that Great Britain National Screening Committee of the Department of Health is developing national standards for antenatal screening for Down's syndrome. Ethical aspects of the antenatal screening; Proposal to extend the screening to all women; Definition of acceptable false-positive rates.

Reports that the first couple in Great Britain to be allowed to try to conceive a baby to save the life of an existing child were due to start in vitro fertilization treatment. Decision of the Court of Appeal, which overturned a High Court ruling that the Human Fertilization and Embryology Authority acted outside its powers when it allowed Shahana and Raj Hashmi to use pre-implantation genetic diagnosis with tissue typing to try to produce a baby who would be an exact match for their son Zain, who has Β thalassemia; Hopes of the couple that cells from the baby's umbilical cord blood will cure Zain.

Assesses the attitudes of British general practitioners regarding antenatal testing for HIV. Prevalence of HIV infection in women attending antenatal clinics; Results of a 1999 questionnaire distributed to general practitioners in Lambeth, Southwark, and Lewisham, England; Awareness that vertical transmission of HIV may be reduced; Outlook for the increased participation of medical personnel in antenatal testing.

Discusses a report on the cost effectiveness of universal antenatal screening for sickle cell disease and thalassemia in Great Britain. Suggestion that such screening programs would benefit from partnerships between health authorities; Impact of screening on women's decision-making during pregnancy; Outcome measures for cost effectiveness.

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.