Fetal Anomaly Screening Programme Research Articles

Fetal echogenic bowel: Is there a national consensus on identification and reporting?

Saving Babies' Lives Care Bundle Version 2 highlights the importance of correct identification and reporting of echogenic bowel to improve maternal and newborn outcomes. Yet there is no national consensus to guide sonographers in identifying and reporting fetal echogenic bowel. This two-phase study aims to develop a national consensus to guide sonographers on the identification, classification and reporting of fetal echogenic bowel during the Fetal Anomaly Screening Programme (FASP) second trimester anomaly scan. Phase 1 results are presented capturing the national current practice of sonographers in its identification. An online questionnaire survey was deployed to capture numerical and free text data. Data analysis was by descriptive statistics. Participants were recruited via social media and through professional networks and organisations. A total of 95 participants completed the questionnaire during an 11-week period. Common practice across England included sonographers using a subjective method for identifying fetal echogenic bowel and making comparisons to fetal bone. However, there was wide variance in the fetal bone used and the transducer frequency typically used to assess bowel echogenicity. Confirmation of echogenic bowel was made at the 20-week scan in 58% of cases, 32% following fetal medicine department review with the remaining 10% unsure when confirmation occurred. While there is common practice in identifying and report echogenic fetal bowel in some areas, there remains disparity within sonographer practice in England's national screening service. This study allowed baseline data to be collated, providing the first steps towards development of guidance for sonographers in identifying and reporting this appearance.

Public Health England and Co-Production with the Fetal Anomaly Screening Programme

As the new Cell-free DNA (Cf-DNA) prenatal screening test for Down syndrome was being introduced into the UK’s fetal anomaly screening program, Down syndrome charities had an opportunity to participate. An experience of co-production where we were the minority voice then followed. This paper explores that process and our experience as a charity. Institutional and societal structures meant that it was difficult to be heard and a significant amount of bias was noted within the program. Consequently, our viewpoints were often considered and then dismissed. However, at times we were listened to, and feel that there were some valuable changes made resulting from our involvement. The end product was far from reflective of all that we stand for, and there are still lessons to be learned in England about the need to place a higher value on minority voices of lived experience in a co-production exercise.

Detection rates of a national fetal anomaly screening programme: A national cohort study.

To measure condition-specific detection rates for 14 physical conditions screened for by the NHS fetal anomaly screening programme (FASP) fetal anomaly (FA) ultrasound scan. Retrospective audit of 12 694 diagnoses across a 3-year national cohort. All English NHS and crown-dependency hospital trusts providing maternity services. Pregnancies booked for maternity services with an expected date of delivery between 1 April 2017 and 31 March 2020 and at least one diagnosis of a condition screened for by FASP. Active multi-source ascertainment, linkage, audit and validation of clinical information to identify the subset of diagnoses meeting the condition-specific positivity threshold for the FA scan. The accuracy of the FA scan compared with diagnostic reference standards. FA scan detection rates were: anencephaly 96.3% (95% confidence interval [CI] 81.7-99.3%), atrioventricular septal defect: 69.2% (95% CI 65.8-72.4%), bilateral renal agenesis: 98.7% (95% CI 95.4-99.6%), cleft lip: 89.5% (95% CI 87.8-90.9%), congenital diaphragmatic hernia: 60.8% (95% CI 56.5-65%), Edwards syndrome: 73.8% (95% CI 67.5-79.3%), exomphalos: 59.4% (95% CI 49.4-68.7%), gastroschisis: 88.6% (95% CI 79-94.1%), hypoplastic left heart syndrome: 92.7% (95% CI 90-94.8%), lethal skeletal dysplasia: 93.2% (95% CI 88.6-96%), Patau syndrome: 82.3% (95% CI 72.4-89.1%), spina bifida: 93.8% (95% CI 91.8-95.3%), tetralogy of Fallot: 75.4% (95% CI 72.1-78.4%) and transposition of the great arteries: 84.9% (95% CI 81.7-87.5%). The performance of the FA scan is above the expectations set in 2010 for most conditions. For the remaining conditions, the majority of fetuses and babies affected are detected before the FA scan.

Preserving women’s reproductive autonomy while promoting the rights of people with disabilities?: the case of Heidi Crowter and Maire Lea-Wilson in the light of NIPT debates in England, France and Germany

On July 2021, the UK High Court of Justice heard the Case CO/2066/2020 on the application of Heidi Crowter who lives with Down’s syndrome, and Máire Lea-Wilson whose son Aidan...

Amniocentesis and chorionic villus sampling: Green-top Guideline No. 8 July 2021: Green-top Guideline No. 8.

Amniocentesis and chorionic villus sampling: Green-top Guideline No. 8 July 2021: Green-top Guideline No. 8.

UK consensus guidelines for the delivery of unexpected news in obstetric ultrasound: The ASCKS framework

Background Studies indicate there is a need to improve the delivery of unexpected news via obstetric ultrasound, but there have been few advances in this area. One factor preventing improvement has been a lack of consensus regarding the appropriate phrases and behaviours which sonographers and ultrasound practitioners should use in these situations. Aims To develop consensus guidelines for unexpected news delivery in Early Pregnancy Unit and Fetal Anomaly Screening Programme NHS settings. Methods A workshop was conducted to identify priorities and reach consensus on areas of contention. Contributors included interdisciplinary healthcare professionals, policy experts, representatives from third-sector organisations, lay experts and academic researchers ( n = 28). Written and verbal feedback was used to draft initial guidance which was then circulated amongst the wider writing group ( n = 39). Revisions were undertaken until consensus was reached. Results Consensus guidelines were developed outlining the behaviours and phrases which should be used during scans where unexpected findings are identified. Specific recommendations included that: honest and clear communication should be prioritised, even with uncertain findings; technical terms should be used, but these should be written down together with their lay interpretations; unless expectant parents use other terminology (e.g. ‘foetus’), the term ‘baby’ should be used as a default, even in early pregnancy; at the initial news disclosure, communication should focus on information provision. Expectant parents should not be asked to make decisions during the scan. Conclusions These recommendations can be used to develop and improve news delivery interventions in obstetric ultrasound settings. The full guidelines can be accessed online as supplemental material and at https://doi.org/10.5518/100/24 .

PMD30 - BUDGET IMPACT ANALYSIS OF ROUTINE ADOPTION OF NON-INVASIVE PRENATAL TESTING (NIPT) IN DIFFERENT RISK-SCORE PREGNANCY POPULATIONS IN THE UK

The Fetal Anomaly Screening Programme (FASP) will include NIPT for pregnant women whose first or second-trimester screen test for trisomy 21, 18 and 13 produces a “higher-chance” risk score (≥ 1:150). NIPT reduces invasive testing (IT) and procedure-related miscarriages and complications (PRMC), stimulating a debate on the cut-off score. This study compared the clinical and economic outcomes of adding NIPT to the current screening regimen with standard care (SC) from a UK NHS perspective. Scenario analysis evaluated the impact of different risk cut-offs and screening approaches. Decision analytic modelling was used to determine the short-term and five-year costs and outcomes of women with singleton pregnancies >10 weeks gestational age (n=800,561). Literature-based key assumptions included a 66% uptake of prenatal screening and a 72% uptake of IT after a positive prior screen. Sensitivity and specificity is trisomy and test-dependent but assumed 100% for IT. Contingent on a risk score ≥ 1:150, adding NIPT reduces IT, and PRMC by 50% vs. SC, while saving £2078 per trisomy detected, despite a 3% increase in missed trisomies (due to NIPT’s slightly lower sensitivity for T18 and T13 vs. IT). Changing the threshold risk score to 1:300 or 1:1000 reduced missed trisomies by >45% compared with SC while reducing IT and PRMC by >45% and saving £4939 per trisomy detected (1:300) or increasing costs by £30 per woman screened (1:1000). Offering NIPT first-line (at 1:150 cut-off) was the only approach to reduce trisomy-affected births but significantly increased costs. Varying the NIPT false-positive rate from 0.1% to 1% increased IT, PRMC and costs. Introducing second-line NIPT in higher-risk pregnancies produces the expected reductions in IT and PRMC. However, a risk cut-off of 1:300 or 1:1000 increases the total number of trisomies detected while reducing IT and PRMC.

Single centre audit of early impact of inclusion of the three vessel and trachea view in obstetric screening.

Detection rates of congenital cardiac malformations have traditionally remained low. The NHS Fetal Anomaly Screening Programme (FASP) aims to increase these detection rates for various reasons, including influencing perinatal management and aiding parental decision making. The inclusion of the three vessel view and trachea (3VT) view in 2015 aimed to improve detection rates of arch abnormalities in particular. This study evaluated the early impact of the new initiative at one NHS Trust. Departmental screen-positive rates were compared for a full year before and after implementation. Referrals to, and opinions of, the foetal medicine unit (FMU) were assessed; as were undetected congenital heart defects for the two time periods. Compared with the pre-implementation (pre-3VT) period, the number of completed anomaly scans performed after implementation (post-3VT) increased by 3% and the number of FMU referrals increased by 625%. Departmental screen-positive rates for cardiac abnormalities increased from 40% (pre-3VT) to 91% (post-3VT). Over half (52%) of the FMU referrals were made due to a suspected abnormal 3VT view. Early evaluation of 3VT implementation at this NHS Trust indicates that it has been a success. Departmental screen-positive rates for congenital cardiac malformations have risen. However, this performance has come at a cost: Some abnormalities now being detected, such as loose vascular ring and PLSVC, are frequently asymptomatic and likely to be clinically insignificant. The implementation of 3VT achieves the aims of FASP but may begin to exceed what is expected from a low risk population screening programme.

Evaluation of patient information leaflets for non-invasive prenatal testing for Down's syndrome

Aims To validate an evidence-based patient information leaflet (PIL) to support women considering non-invasive prenatal testing (NIPT) for Down's syndrome. Methods A PIL was developed based on qualitative interviews and expert review. The PIL was evaluated by women offered NIPT for Down's syndrome as part of a research study. Questionnaires assessed usefulness, relevance, technicality and scope on a four point Likert scale. Qualitative interviews allowed a more in-depth exploration of views on the PIL. Findings The PIL was well received by women. Overall, they found it clear and easy to understand. Some women suggested the word heavy PIL could be enhanced through the addition of pictures, colour and altered line spacing. Conclusions The majority of women found the PIL useful when considering NIPT for Down's syndrome. The validated PIL could inform development of information resources for women during the future introduction of NIPT into the NHS Fetal Anomaly Screening Programme in the UK.

Socioeconomic inequalities in pregnancy outcome associated with Down syndrome: a population-based study

ObjectiveTo investigate socioeconomic inequalities in outcome of pregnancy associated with Down syndrome (DS) compared with other congenital anomalies screened for during pregnancy.Design and settingRetrospective population-based registry study (East Midlands &...

An evaluation of prenatal ultrasound screening for CTEV: accuracy data from a single NHS University Teaching Hospital.

Congenital Talipes Equinovarus (CTEV) is one of the most common congenital limb deformities. We reviewed the records of infants who had received treatment for structural CTEV between 1 January 2007 and 30 November 2012. This was cross-referenced with the prenatal scans of mothers over a corresponding period of time. We investigated the sensitivity, specificity, and positive and negative predictive values of the fetal anomaly scan for the detection of CTEV and explored whether the publication of Fetal Anomaly Screening Programme guidelines in 2010 affected the rate of detection. During the study period there were 95 532 prenatal scans and 34 373 live births at our hospital. A total of 37 fetuses with findings suggestive of CTEV were included in the study, of whom 30 were found to have structural CTEV at birth. The sensitivity of screening for CTEV was 71.4% and the positive predictive value was 81.1%. The negative predictive value and specificity were more than 99.5%. There was no significant difference between the rates of detection before and after publication of the guidelines (p = 0.5). We conclude that a prenatal fetal anomaly ultrasound screening diagnosis of CTEV has a good positive predictive value enabling prenatal counselling. The change in screening guidance has not affected the proportion of missed cases. This information will aid counselling parents about the effectiveness and accuracy of prenatal ultrasound in diagnosing CTEV.

PFM.19 Trisomy 18 and 13 screening changes in Scotland

All women in Scotland are offered first trimester screening combining ultrasound nuchal translucency measurement and free ßhCG and PAPPA-A levels to calculate their risk for Down’s syndrome. Second trimester screening...

PFM.63 Uncovering the complex relationships between maternal age, antenatal detection rates, and pregnancy outcome in cases of Trisomy 13 and 18 (T13&T18)

BackgroundScreening for T13&T18 is offered to all pregnant women as part of the UK Fetal Anomaly Screening Programme (FASP). Current targets require antenatal detection rates of 95%.AimTo explore the complex...

Obstetric audit: the Bradford way.

Ultrasound is widely used as a screening tool in obstetrics with the aim of reducing maternal and foetal morbidity. However, to be effective it is recommended that scanning services follow standard protocols based on national guidelines and that scanning practice is audited to ensure consistency. Bradford has a multi-ethnic population with one of the highest rates of birth defects in the UK and it requires an effective foetal anomaly screening service. We implemented a rolling programme of audits of dating scans, foetal anomaly scans and growth scans carried out by sonographers in Bradford. All three categories of scan were audited using measurable parameters based on national guidelines. Following feedback and re-training to address issues identified, re-audits of dating and foetal anomaly scans were carried out. In both cases, sonographers being re-audited had a marked improvement in their practice. Analysis of foetal abnormality detection rates showed that as a department, we were reaching the nationally agreed detection rates for the Fetal Anomaly Screening Programme auditable conditions. Audit has been shown to be a useful and essential process in achieving consistent scanning practices and high quality images and measurements.

The impact of national guidance for anomaly screening and invasive testing: unintended consequences

Recent guidance from the UK National Screening Committee (NSC) and the Fetal Anomaly Screening Programme (FASP) has led to important changes in prenatal ultrasound diagnosis and invasive testing. These relate...

Detection rates of the Fetal Anomaly Screening Programme (FASP) 11 key conditions in one unit: is the recommended annual audit of any value?

What's already known on this topic? Detection rates of some of the prenatal conditions have been established only from long term regional or national studies. No previous published work has evaluated whether the Fetal Anomaly Screening Programme recommendation that individual units should annually audit their detection rates of 11 major conditions is of value.What does this study add? As they stand, the UK national recommendations for annual audit are of minimal value in the short term. Conditions of low prevalence and high detection rate are the least useful indicators of performance. We suggest that the auditing recommendations could be improved by grouping conditions and by expanding the target gestational age (e.g. up to 21 weeks rather than within the 18–20 + 6 period recommended by Fetal Anomaly Scan).

PF.45 Comparison of Antenatal Detection Rates of Fetal Anomalies Betweeneight Trusts in the East Midlands and South Yorkshire. Are the Fetal Anomaly Screening Programme Targets Achievable?

BackgroundIn 2010, the UK Fetal Anomaly Screening Programme (FASP)introduced targets varying between 50% and 98% for the antenatal detectionof elevencongenital anomalies*. Auditing these standards is complex, requiring an understanding oftrust...

PF.27 The Impact of the NHS Fetal Anomaly Screening Programme 2010 on Referrals to Fetal Medicine For Ventriculomegaly

The NHS Fetal Anomaly Screening Programme (FASP) is a national screening guideline for the United Kingdom to detect fetal anomalies (1). In 2010 the national guidance was updated to include...

PP.47 Evaluating Outcomes of Skeletal Dysplasias (SDs)

ObjectiveTo evaluate the outcome of 543 pregnancies identified with a skeletal dysplasia or an antenatal suspected skeletal anomaly in the East Midlands and South Yorkshire (EMSYCAR) Congenital Anomaly Register over...

The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008

Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per syndrome diagnosis. The number of tests per Down, Edwards or Patau syndrome diagnosis adjusted for maternal and gestational age at diagnosis was calculated using routine data from 18 (95%) cytogenetic laboratories in England and Wales in 2008. There were 19,326 tests that identified 1118 diagnoses of Down syndrome and 615 of Edwards and Patau syndromes. There were eight chorionic villus samplings (CVS) per syndrome diagnosis compared with 16 amniocenteses (gestational age adjusted). The lowest number of tests per diagnosis (three for CVSs and for amniocentesis) resulted from an abnormal ultrasound scan. Among pregnant women, 2.9% had an invasive diagnostic test. If a CVS and an amniocentesis increase the risk of a miscarriage by 1% and 0.5%, respectively, approximately one miscarriage for every 14 Down, Edwards or Patau syndrome diagnosis would have occurred. A simple measurement of the population impact of screening for Down syndrome can be calculated using data already collected. Annual estimates should be produced to monitor the national fetal anomaly screening programme. © 2012 John Wiley & Sons, Ltd.