Fetal Anomaly Screening Research Articles

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...

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...

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.

PP-231 Prenatal Diagnosis of Transposition Great Arteries

ObjectiveThe most common death cause anomaly in the first month of life is transposition great arteries which should be detected prenatally for appropriate treatment. The aim of the present case report is to show the characteristics of transposition great arteries in fetal ultrasonography.MethodsA 39 year old singleton pregnant women referred to our department with indication of fetal anomaly screening with high risk pregnancy. All system anomaly sceening of the fetus was normal except cardiac screening. Evaluation of general features of the fetal hearth (position, size and axis of the hearth), atria, ventricles and atrioventricular valves are performed. Evaluation of outflow tracts and three-vessel view additional to basic cardiac examination was also performed.ResultsIn the evaluation of fetal hearth, atria, ventricles and atrioventricular valves, there was no anomaly detected. However, in the evaluation of three vessel view and outflow tracts, we detected a parallel alignment of aorta and pulmonary artery which indicates an anomaly. The pulmonary artery originating from morphologic left ventricular and branching was detected. The aorta was originating from right ventricular (Figure 1). There was no atrial septal defect or ventricular septal defect detected. The pregnancy was terminated according to parents’ decision and autopsy was not performed.Conclusions ObjectiveThe most common death cause anomaly in the first month of life is transposition great arteries which should be detected prenatally for appropriate treatment. The aim of the present case report is to show the characteristics of transposition great arteries in fetal ultrasonography. The most common death cause anomaly in the first month of life is transposition great arteries which should be detected prenatally for appropriate treatment. The aim of the present case report is to show the characteristics of transposition great arteries in fetal ultrasonography. MethodsA 39 year old singleton pregnant women referred to our department with indication of fetal anomaly screening with high risk pregnancy. All system anomaly sceening of the fetus was normal except cardiac screening. Evaluation of general features of the fetal hearth (position, size and axis of the hearth), atria, ventricles and atrioventricular valves are performed. Evaluation of outflow tracts and three-vessel view additional to basic cardiac examination was also performed. A 39 year old singleton pregnant women referred to our department with indication of fetal anomaly screening with high risk pregnancy. All system anomaly sceening of the fetus was normal except cardiac screening. Evaluation of general features of the fetal hearth (position, size and axis of the hearth), atria, ventricles and atrioventricular valves are performed. Evaluation of outflow tracts and three-vessel view additional to basic cardiac examination was also performed. ResultsIn the evaluation of fetal hearth, atria, ventricles and atrioventricular valves, there was no anomaly detected. However, in the evaluation of three vessel view and outflow tracts, we detected a parallel alignment of aorta and pulmonary artery which indicates an anomaly. The pulmonary artery originating from morphologic left ventricular and branching was detected. The aorta was originating from right ventricular (Figure 1). There was no atrial septal defect or ventricular septal defect detected. The pregnancy was terminated according to parents’ decision and autopsy was not performed. In the evaluation of fetal hearth, atria, ventricles and atrioventricular valves, there was no anomaly detected. However, in the evaluation of three vessel view and outflow tracts, we detected a parallel alignment of aorta and pulmonary artery which indicates an anomaly. The pulmonary artery originating from morphologic left ventricular and branching was detected. The aorta was originating from right ventricular (Figure 1). There was no atrial septal defect or ventricular septal defect detected. The pregnancy was terminated according to parents’ decision and autopsy was not performed. Conclusions

PP-230 The Diagnosis of Fetal Hypoplastic Left Heart

The aim of the present case report is to show the characteristics of hypoplastic left heart in fetal ultrasonography. A 23 year old, parity 3 gravidity 2, singleton pregnant women referred to our department with indication of fetal anomaly screening. Anomaly screening for all systems were performed. Evaluation of general features of the fetal hearth (position, size and axis of the hearth), atria, ventricles and atrioventricular valves and evaluation of outflow tracts and three-vessel view additional to basic cardiac examination were also performed. Anomaly screening of the fetus was normal except cardiac screening. In the evaluation of fetal hearth, atria, ventricles and atrioventricular valves, an apparently small left ventricular and atria and dilated right ventricular and atria was detected. In the evaluation of three-vessel view, ascending aorta was absent. In addition, backflow in arcus aorta was detected which confirms the diagnosis of hypoplastic left hearth (Figure 1). The pregnancy was terminated according to parents’ decision and autopsy was not performed. The frequency of hypoplastic left heart is approximately 1% of congenital heart diseases. Left ventricular hypoplasia or atresia, mitral valve hypoplasia or atresia, aortic valve atresia with ascending aorta hypoplasia are the main findings of hypoplastic left heart. The symptoms include postnatal early period cyanosis and dyspnea following the closure of patent ductus arteriosus. Diagnosis primarily depends on postnatal angiocardiography. However, as shown in the present study, a detailed fetal cardiac examination can show hypoplastic left hearth and can give opportunity for postnatal treatment planning in continuing pregnancies.

Improving our Knowledge in Twins: The Role of Ductus Venosus in the First Trimester

ABSTRACT Ductus venosus (DV) is a tiny vessel with a central role in fetal circulation both in singletons and multiples. In the present review we detail the contribution of DV evaluation in twin pregnancies in the first trimeter of pregnancy. The higher prevalence of abnormal A-wave in fetuses with abnormal karyotype and/or cardiac defects made DV evaluation a useful marker for the screening of chromosomal abnormalities and fetal cardiac anomalies. In dichorionic (DC) pregnancies, DV blood flow assessment reproduces the role of NT in the screening for aneuploidies, just as in singleton pregnancies. In monochorionic (MC) twin pregnancies, the Doppler assessment of DV blood flow improves the detection of those at higher risk of developing twin-to-twin transfusion syndrome or growth discrepancy later in pregnancy. As for singletons, DV should be systematically evaluated in all first trimester scans for a more performant screening in multiples. How to cite this article Matias A, Montenegro N. Improving our Knowledge in Twins: The Role of Ductus Venosus in the First Trimester. Donald School J Ultrasound Obstet Gynecol 2013;7(4):409-414.

P05.14: Routine screening for fetal anomalies in the 12th week of pregnancy (1996–2012): advantages and limitations

Evaluation of the advantages and limitations of routine screening in early pregnancy by transvaginal sonography in an unselected population. Routine ultrasound examination was offered to every woman in the 12th week of her pregnancy using a transvaginal probe. The examination protocol was focused on surching for major structural anomalies. Routine transabdominal screening at 18 and 32 weeks was also performed. Anomalies were divided into three groups. Group 1: all cases were diagnosed; Group 2: only a certain percent of the cases were detected; Group 3: not detected. Diagnoses were confirmed by neonatological and pathological examinations In a seventeen-year period 22195 women were examined and 393 fetuses had malformations. Fetal anomalies were diagnosed in 130 cases at the 12th week (33,3%), 94 cases at 18 weeks (23,9%), 138 cases at 32 weeks (35,2%) and 29 cases later. All those malformations which cause severe defects and/or extensions of the body contour were detected (Group 1). Structural anomalies which can be diagnosed as a consequence of obstruction or stenosis and those causing small defects were recognised only in a certain percent of cases (Group 2). The explanation for the failure to detect the anomalies included in Groups 2 and 3 is discussed. Early transvaginal screening offers the possibility of early termination of pregnancies with severe structural anomalies in 33,3% of cases. However standard mid-second-trimester transabdominal scanning is still recommended since a significant number of malformations cannot be detected so early in pregnancy. (a) There are malformations which do not manifest so early in pregnancy; (b) we do not have enough experience of the early pathological changes of these anomalies; (c) the resolution of the transvaginal probe is still not enough to recognise them.

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.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...

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...

PP.15 Mortality, Congenital Anomaly, & Maternal Risk Factors Across Ethnic Groups in Birmingham

BackgroundStillbirth and infant mortality rates in Birmingham remain consistently above those seen in the West Midlands and England & Wales. Over half of the maternity population are from minority ethnic...

PP.37 The Antenatal Detection of Serious Cardiac Anomalies – Evaluating a Disparate Group Against a Target

Background In 2010, the NHS Fetal Anomaly Screening Program (FASP) issued national targets for the antenatal detection rates (ADR) of “serious cardiac anomaly” at the 18+0–20+6 week Fetal Anomaly Scan....

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...

Role of second‐trimester ultrasound in screening for Down syndrome

Role of second‐trimester ultrasound in screening for Down syndrome

Aberrant right subclavian artery in Down syndrome fetuses

The aim of this study is to determine the frequency of aberrant right subclavian artery (ARSA) in trisomic and normal fetuses during the routine detailed ultrasonography in the second trimester and to evaluate the potential value of ARSA as an ultrasonographic marker for trisomy 21. The presence of normal brachicephalic trunk/or ARSA was confirmed in all pregnant women undergoing second trimester detailed fetal anomaly screening beyond 16th week of pregnancy. Amniocentesis following genetic councelling was recommended to all women having either any positive ultrasonographic marker including ARSA or a positive biochemical screening test (triple test) result. During the 17-month period, 2081 patients were screened, and 23 patients with ARSA (1,1%) and 20 patients with trisomy 21 were detected. Of those 20 patients with trisomy 21, ARSA was detected in seven (%35). On the other hand, 30.4% of the fetuses with ARSA had also trisomy 21. The positive and negative likelihood ratios of ARSA for trisomy 21 were 45.08 and 0.65, respectively. In our study, the ARSA in combination with other ultrasound signs increased the risk for trisomy 21 by factor of 45, but the independent ability of ARSA as an isolated marker to predict fetal Trisomy 21 is unclear.

Prenatal Ultrasound Screening for Fetal Anomalies and Outcomes in High-Risk Pregnancies due to Maternal HIV Infection: A Retrospective Study

Objective. To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study Design. The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the department for prenatal screening and/or during labour between January 1, 2002 and December 31, 2012, was recorded. Screening results were compared with the postnatal outcome and maternal morbidity, and mother-to-child transmission (MTCT) was evaluated. Results. One hundred of 330 women (30.5%) had an early anomaly scan, 252 (74.5%) had a detailed scan at 20–22 weeks, 18 (5.5%) had a detailed scan prior to birth, and three (0.9%) had an amniocentesis. In seven cases (2.12%), a fetal anomaly was detected prenatally and confirmed postnatally, while in eight (2.42%) an anomaly was only detected postnatally, even though a prenatal scan was performed. There were no anomalies in the unscreened group. MTCT occurred in three cases (0.9%) and seven fetal and neonatal deaths (2.1%) were reported. Conclusion. The overall prevalence of prenatal ultrasound screening in our cohort is 74.5%, but often the opportunity for prenatal ultrasonography in the first trimester is missed. In general, the aim should be to offer prenatal ultrasonography in the first trimester in all pregnancies. This allows early reassurance or if fetal disease is suspected, further steps can be taken.

Ultrasound Diagnosis of Fetal Neck Masses: A Case Series

Fetal neck masses are rare and may not be apparent during the second trimester fetal anomaly screening scan. It is essential to distinguish the different pathologies as it influences prenatal counseling, antenatal, and postnatal management. Furthermore, some causes may be amenable to in utero treatment. Others have a poor prognosis due to their association with congenital syndromes and aneuploidies. Differentiating the various neck masses and reaching an accurate diagnosis are a challenge. This requires a systematic approach, time and patience, together with an experienced sonographer. Ancillary investigations like karyotyping and magnetic resonance imaging may be used as well. It is important to attain an accurate diagnosis and to follow up the fetus with serial scans as this affects antenatal counselling and prognosis as well as the mode of delivery. Here, we present four cases of fetal neck masses that were seen at our antenatal diagnostic centre and highlight the distinguishing ultrasound features of each. This will enable one to approach the ultrasound diagnosis of fetal neck masses in a methodical and logical manner.

380: Obstetric ultrasound in obese women: is routine transvaginal ultrasound cost effective?

Ultrasound screening relies on tissue penetration for adequate visualization. Abdominal ultrasound (ABUS) is often limited in obese women due to increased tissue depth which can result in suboptimal or missed diagnosis of severe anomalies or syndromes. Obese women are more likely to have infants with central nervous system (CNS) and neural tube defects (NTD), and delayed or missed diagnosis prohibits prenatal counseling. To combat decreased sensitivity, clinicians may delay initial US to 20-22 weeks to enhance imaging. Transvaginal ultrasound (TVUS) offers the opportunity for improved fetal visualization by decreasing the distance between the transducer and the fetus, but is typically more effective earlier in gestation. We sought to investigate the impact of TVUS versus ABUS for fetal anomaly screening in obese women. We created a decision-analytic model using TreeAge software to compare the outcomes of routine antenatal ABUS and TVUS for diagnosis of CNS/NTD anomalies in a theoretical cohort of obese singleton pregnancies. Strategies included initial TVUS or ABUS and up to 2 additional ABUS attempts for completion of anatomy and a fetal MRI if CNS/NTD was suspected. Baseline assumptions were derived from the literature, including a CNS/NTD prevalence of 0.2%. Total quality-adjusted life years (QALYs) were generated. Sensitivity analyses were conducted to examine the robustness of the findings. TVUS in obese women significantly increased the number of prenatally diagnosed CNS/NTD anomalies from 239.2 to 280.6 per 100,000 women screened and decreased the number of missed CNS anomalies from 60.8 to 19.4. Initial TVUS was cost effective as compared to serial ABUS with a savings of $52.14 and was associated with an overall increase in 0.01 QALYs. TVUS can improve the ability to diagnose CNS anomalies in obese women in whom transabdominal ultrasound is significantly limited by maternal body habitus and is both cost effective and associated with an improvement in QALYs.

‘Give us the full story’: Overcoming the challenges to achieving informed choice about fetal anomaly screening in Australian Aboriginal communities

This cross-cultural qualitative study examined the ethical, language and cultural complexities around offering fetal anomaly screening in Australian Aboriginal communities. There were five study sites across the Northern Territory (NT), including urban and remote Aboriginal communities. In-depth interviews were conducted between October 2009 and August 2010, and included 35 interviews with 59 health providers and 33 interviews with 62 Aboriginal women. The findings show that while many providers espoused the importance of achieving equity in access to fetal anomaly screening, their actions were inconsistent with this ideal. Providers reported they often modified their practice depending on the characteristics of their client, including their English skills, the perception of the woman's interest in the tests and assumptions based on their risk profile and cultural background. Health providers were unsure whether it was better to tailor information to the specific needs of their client or to provide the same level of information to all clients. Very few Aboriginal women were aware of fetal anomaly screening. The research revealed they did want to be offered screening and wanted the ‘full story’ about all aspects of the tests. The communication processes advocated by Aboriginal women to improve understanding about screening included community discussions led by elders and educators. These processes promote culturally defined ways of sharing information, rather than the individualised, biomedical approaches to information-giving in the clinical setting. A different and arguably more ethical approach to introducing fetal anomaly screening would be to initiate dialogue with appropriate groups of women in the community, particularly young women, build relationships and utilise Aboriginal health workers. This could accommodate individual choice and broader cultural values and allow women to discuss the moral and philosophical debates surrounding fetal anomaly screening prior to the clinical encounter and within their own cultural space.