11 results on '"Prenatal Diagnosis"'
Search Results
2. Development and validation of predictive models for QUiPP App v.2: tool for predicting preterm birth in women with symptoms of threatened preterm labor.
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Carter, J., Seed, P. T., Watson, H. A., David, A. L., Sandall, J., Shennan, A. H., and Tribe, R. M.
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PREMATURE labor , *PREDICTION models , *AMNIOTIC liquid , *AKAIKE information criterion , *MODEL validation , *FIBRONECTINS , *RESEARCH , *PRENATAL diagnosis , *PREMATURE infants , *PREDICTIVE tests , *MOBILE apps , *RESEARCH methodology , *HIGH-risk pregnancy , *GESTATIONAL age , *PHARMACOKINETICS , *MEDICAL cooperation , *EVALUATION research , *RISK assessment , *COMPARATIVE studies , *RESEARCH funding , *RECEIVER operating characteristic curves , *LONGITUDINAL method , *FETAL ultrasonic imaging , *PROBABILITY theory , *ALGORITHMS - Abstract
Objective: To develop enhanced prediction models to update the QUiPP App prototype, a tool providing individualized risk of spontaneous preterm birth (sPTB), for use in women with symptoms of threatened preterm labor (TPTL), incorporating risk factors, transvaginal ultrasound assessment of cervical length (CL) and cervicovaginal fluid quantitative fetal fibronectin (qfFN) test results.Methods: Participants were pregnant women between 23 + 0 and 34 + 6 weeks' gestation with symptoms of TPTL, recruited as part of four prospective cohort studies carried out at 16 UK hospitals between October 2010 and October 2017. The training set comprised all women whose outcomes were known in May 2017 (n = 1032). The validation set comprised women whose outcomes were gathered between June 2017 and March 2018 (n = 506). Parametric survival models were developed for three combinations of predictors: risk factors plus qfFN test results alone, risk factors plus CL alone, and risk factors plus both qfFN and CL. The best models were selected using the Akaike and Bayesian information criteria. The estimated probability of sPTB < 30, < 34 or < 37 weeks' gestation and within 1 or 2 weeks of testing was calculated and receiver-operating-characteristics (ROC) curves were created to demonstrate the diagnostic ability of the prediction models.Results: Predictive statistics were similar between the training and the validation sets at most outcome time points and for each combination of predictors. Areas under the ROC curves (AUC) demonstrated that all three algorithms had good accuracy for the prediction of sPTB at < 30, < 34 and < 37 weeks' gestation and within 1 and 2 weeks' post-testing in the validation set, particularly the model combining risk factors plus qfFN alone (AUC: 0.96 at < 30 weeks; 0.85 at < 34 weeks; 0.77 at < 37 weeks; 0.91 at < 1 week from testing; and 0.92 at < 2 weeks from testing).Conclusions: Validation of the new prediction models suggests that the QUiPP App v.2 can reliably calculate risk of sPTB in women with TPTL. Use of the QUiPP App in practice could lead to better targeting of intervention, while providing reassurance and avoiding unnecessary intervention in women at low risk. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]- Published
- 2020
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3. Development and validation of predictive models for QUiPP App v.2: tool for predicting preterm birth in asymptomatic high-risk women.
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Watson, H. A., Seed, P. T., Carter, J., Hezelgrave, N. L., Kuhrt, K., Tribe, R. M., and Shennan, A. H.
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PREMATURE labor , *PREDICTION models , *MULTIPLE pregnancy , *MODEL validation , *BIOMARKERS , *FIBRONECTINS , *RESEARCH , *PREMATURE infants , *PRENATAL diagnosis , *PREDICTIVE tests , *MOBILE apps , *RESEARCH methodology , *HIGH-risk pregnancy , *GESTATIONAL age , *PHARMACOKINETICS , *MEDICAL cooperation , *EVALUATION research , *RISK assessment , *COMPARATIVE studies , *SYMPTOMS , *RESEARCH funding , *RECEIVER operating characteristic curves , *LONGITUDINAL method , *FETAL ultrasonic imaging , *ALGORITHMS - Abstract
Objectives: Accurate mid-pregnancy prediction of spontaneous preterm birth (sPTB) is essential to ensure appropriate surveillance of high-risk women. Advancing the QUiPP App prototype, QUiPP App v.2 aimed to provide individualized risk of delivery based on cervical length (CL), quantitative fetal fibronectin (qfFN) or both tests combined, taking into account further risk factors, such as multiple pregnancy. Here we report development of the QUiPP App v.2 predictive models for use in asymptomatic high-risk women, and validation using a distinct dataset in order to confirm the accuracy and transportability of the QUiPP App, overall and within specific clinically relevant time frames.Methods: This was a prospective secondary analysis of data of asymptomatic women at high risk of sPTB recruited in 13 UK preterm birth clinics. Women were offered longitudinal qfFN testing every 2-4 weeks and/or transvaginal ultrasound CL measurement between 18 + 0 and 36 + 6 weeks' gestation. A total of 1803 women (3878 visits) were included in the training set and 904 women (1400 visits) in the validation set. Prediction models were created based on the training set for use in three groups: patients with risk factors for sPTB and CL measurement alone, with risk factors for sPTB and qfFN measurement alone, and those with risk factors for sPTB and both CL and qfFN measurements. Survival analysis was used to identify the significant predictors of sPTB, and parametric structures for survival models were compared and the best selected. The estimated overall probability of delivery before six clinically important time points (< 30, < 34 and < 37 weeks' gestation and within 1, 2 and 4 weeks after testing) was calculated for each woman and analyzed as a predictive test for the actual occurrence of each event. This allowed receiver-operating-characteristics curves to be plotted, and areas under the curve (AUC) to be calculated. Calibration was performed to measure the agreement between expected and observed outcomes.Results: All three algorithms demonstrated high accuracy for the prediction of sPTB at < 30, < 34 and < 37 weeks' gestation and within 1, 2 and 4 weeks of testing, with AUCs between 0.75 and 0.90 for the use of qfFN and CL combined, between 0.68 and 0.90 for qfFN alone, and between 0.71 and 0.87 for CL alone. The differences between the three algorithms were not statistically significant. Calibration confirmed no significant differences between expected and observed rates of sPTB within 4 weeks and a slight overestimation of risk with the use of CL measurement between 22 + 0 and 25 + 6 weeks' gestation.Conclusions: The QUiPP App v.2 is a highly accurate prediction tool for sPTB that is based on a unique combination of biomarkers, symptoms and statistical algorithms. It can be used reliably in the context of communicating to patients the risk of sPTB. Whilst further work is required to determine its role in identifying women requiring prophylactic interventions, it is a reliable and convenient screening tool for planning follow-up or hospitalization for high-risk women. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]- Published
- 2020
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4. The rate of brain abnormalities on in utero MRI studies in fetuses with normal ultrasound examinations of the brain and calculation of indicators of diagnostic performance.
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Griffiths, P.D., Bradburn, M., Mandefield, L., Mooney, C., and Jarvis, D.
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BRAIN abnormalities , *FETAL ultrasonic imaging , *FETAL abnormalities , *FETUS , *FETAL brain , *FETAL development , *BRAIN , *BRAIN diseases , *PRENATAL diagnosis , *MAGNETIC resonance imaging , *RESEARCH funding , *LONGITUDINAL method ,RESEARCH evaluation - Abstract
Aim: To estimate the rate of unexpected brain abnormalities detected by in utero magnetic resonance imaging (iuMRI) in fetuses without abnormalities at ultrasonography (USS).Materials and Methods: A prospective cohort study of pregnant women whose fetus had no structural brain (or body) abnormalities recognised on antenatal ultrasonography. Women were recruited from 12 centres across the UK and underwent iuMRI at 18 gestational weeks or more in the [blinded for review]. The imaging studies were reviewed by an experienced neuroradiologist. The positive and negative predictive values of both USS and iuMRI have been calculated by combining the results of this study with the results from the main [blinded for review] study.Results: One hundred and ninety-eight pregnant women were recruited and underwent iuMRI of 205 fetuses. Brain abnormalities were shown on iuMRI in two fetuses that were not recognised on USS (one case of a focal cortical abnormality and one case of mild ventriculomegaly). The negative predictive value for USS was 99.5% and 100% for iuMRI.Conclusions: To the authors' knowledge, this is the first study comparing USS and iuMRI in low-risk pregnancies. USS has a comparatively high rule-out for fetal brain abnormalities and should remain the screening tool of choice. [ABSTRACT FROM AUTHOR]- Published
- 2019
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5. The Combined Use of Ultrasound and Fetal Magnetic Resonance Imaging for a Comprehensive Fetal Neurological Assessment in Fetal Congenital Cardiac Defects: Scientific Impact Paper No. 60.
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Pasupathy, D, Denbow, ML, Rutherford, MA, Denbow, M L, Rutherford, M A, and Royal College of Obstetricians and Gynaecologists
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FETAL MRI , *ULTRASONIC imaging , *CONGENITAL heart disease , *FETAL echocardiography , *NEUROLOGIC examination , *FETAL monitoring , *FETAL ultrasonic imaging , *DIAGNOSIS of brain diseases , *CONGENITAL heart disease diagnosis , *DIAGNOSIS of fetal diseases , *BRAIN diseases , *MAGNETIC resonance imaging , *PRENATAL diagnosis , *PROGNOSIS - Abstract
Heart problems are common in newborn babies, affecting approximately 5-10 in 1000 babies. Some are more serious than others, but most babies born with heart problems do not have other health issues. Of those babies who have a serious heart problem, almost 1 in 4 will have heart surgery in their first year. In the UK, pregnant women are offered a scan at around 20 weeks to try and spot any heart problems. In most cases there is not a clear reason for the problem, but sometimes other issues, such as genetic conditions, are discovered. In recent years the care given to these babies after they are born has improved their chances of surviving. However, it is recognised that babies born with heart problems have a risk of delays in their learning and development. This may be due to their medical condition, or as a result of surgery and complications after birth. In babies with heart problems, there is a need for more research on ultrasound and magnetic resonance imaging (MRI) to understand how the brain develops and why these babies are more likely to have delays in learning and development. This paper discusses the way ultrasound and MRI are used in assessing the baby's brain. Ultrasound is often used to spot any problems, looking at how the baby's brain develops in pregnancy. Advances in ultrasound technologies have made this easier. MRI is well-established and safe in pregnancy, and if problems in the brain have been seen on ultrasound, MRI may be used to look at these problems in more detail. While it is not always clear what unusual MRI findings can mean for the baby in the long term, increased understanding may mean parents can be given more information about possible outcomes for the baby and may help to improve the counselling they are offered before their baby's birth. [ABSTRACT FROM AUTHOR]
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- 2019
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6. Routine first-trimester screening for fetal trisomies in twin pregnancy: cell-free DNA test contingent on results from combined test.
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Konstantinidou, L., Nicolaides, K. H., Galeva, S., Gil, M. M., and Akolekar, R.
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FETOFETAL transfusion , *PREGNANCY proteins , *DIAGNOSIS of Down syndrome , *COMPARATIVE studies , *FETAL ultrasonic imaging , *LONGITUDINAL method , *MATERNAL age , *RESEARCH methodology , *MEDICAL cooperation , *MEDICAL screening , *MULTIPLE pregnancy , *FIRST trimester of pregnancy , *PRENATAL diagnosis , *RESEARCH , *RESEARCH funding , *RISK assessment , *EVALUATION research , *DOWN syndrome , *FETAL development , *PREDICTIVE tests - Abstract
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]- Published
- 2019
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7. MRI for Fetal Developmental Brain Abnormalities: Perspectives From the Pregnant Patient.
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Lie, Mabel L. S., Graham, Ruth H., Robson, Stephen C., and Griffiths, Paul D.
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BRAIN abnormalities , *FETAL abnormalities , *FETAL ultrasonic imaging , *INTERVIEWING , *MAGNETIC resonance imaging , *PREGNANT women , *PRENATAL diagnosis , *UNCERTAINTY , *QUALITATIVE research , *THEMATIC analysis , *FETAL development , *DATA analysis software , *PATIENT decision making , *FETUS , *DIAGNOSIS - Abstract
Ultrasound is routinely used as a prenatal screening and diagnostic tool but has limitations. Some anomalies in the developing fetal brain can be difficult to detect, and in utero magnetic resonance imaging (iuMRI) is increasingly used as an adjunct to ultrasound. However, understandings of patient perspectives of iuMRI technology are still developing. Our qualitative study of 41 mothers who experienced iuMRI was embedded in a diagnostic accuracy trial and aimed to inform policy recommendations that might stem from the clinical findings. Our analysis suggests that iuMRI is seen as useful, offering valuable additional information and helping women make decisions about care options at a difficult time. However, patients’ experiences demonstrated the uncertainty and anxiety associated with the prenatal diagnosis (PND) process relating to brain anomalies including the challenges of their embodied contributions. Our findings suggest more could be done to reduce the impact on pregnant women during an already difficult, anxious period. [ABSTRACT FROM AUTHOR]
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- 2018
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8. Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test.
- Author
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Gil, M. M., Revello, R., Poon, L. C., Akolekar, R., and Nicolaides, K. H.
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DNA analysis , *THIRD trimester of pregnancy , *DIAGNOSIS of Down syndrome , *MEDICAL screening , *KARYOTYPES , *CELL metabolism , *DNA metabolism , *CELLS , *CHORIONIC gonadotropins , *CHROMOSOME abnormalities , *CHROMOSOMES , *DNA , *FETAL ultrasonic imaging , *LONGITUDINAL method , *NATIONAL health services , *FIRST trimester of pregnancy , *PREGNANCY proteins , *PRENATAL diagnosis , *LOGISTIC regression analysis , *PILOT projects , *DOWN syndrome , *DIAGNOSIS - Abstract
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]- Published
- 2016
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9. Implications of ultrasound scanning for midwives.
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Gargan, Phyl
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ULTRASONICS in obstetrics , *MIDWIVES , *ULTRASONIC imaging , *PREGNANCY , *OBSTETRICS , *MALPRACTICE , *LEGAL status of midwives , *NEGLIGENCE , *FETAL ultrasonic imaging , *COUNSELING , *MEDICAL practice , *PATIENT safety , *PRENATAL diagnosis , *LAW - Abstract
Obstetric ultrasound has revolutionized the management of pregnancy and gynaecological conditions for women worldwide, leading to its acceptance as the imaging modality of choice (Goldberg, 2000). However, alongside technical advances in imaging equipment, there has been a serious increase in medical litigation with obstetrics claims accounting for 60-70% of total (malpractice) sums paid by the NHS Litigation Authority. While midwives seek to extend the limits of their own practice to meet the needs of a constantly changing health service, the wider ramifications of this adjustment to practice need to be considered with regards to preparation for that role, and will be discussed in this review. [ABSTRACT FROM AUTHOR]
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- 2010
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10. Improving patients' knowledge of the fetal anomaly scan.
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Smith, R. P., Titmarsh, S., and Overton, T. G.
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FETAL ultrasonic imaging , *FETAL monitoring , *PRENATAL diagnosis , *REPRODUCTIVE technology , *HUMAN abnormalities - Abstract
Objectives To determine the level of patient knowledge regarding the 20-week screening ultrasound examination, which is performed on over 95% of women in our unit, and to ascertain whether the use of targeted education could improve patient knowledge and expectations, to determine from where patients obtained information on the scan and to ascertain whether patients felt they had chosen to undergo the scan. Methods An anonymous questionnaire was issued to all patients attending for their 20-week scan over a 3-week period in July 2002 (n = 220). There were nine questions, focusing on maternal choice, information and knowledge. As a result of the information obtained, we undertook a program of education for hospital and community medical and midwifery staff. A printed information sheet given to the patients at the time of booking their 20-week scan was introduced. We then issued the questionnaire for another 3-week period in July 2003 (n = 171). Results As a result of our education program, there was a significant increase in the number of women answering various knowledge-based questions correctly about the 20-week scan, in those using the written information provided as a source of information (P < 0.0001), and in those who felt they had been involved in the decision to have the scan (P = 0.003). Conclusions Patients need to be better informed about the 20-week scan, and choose whether or not to have it. Health professionals are pivotal in this process. While written information helps to reinforce the information given, alone it has only a small effect. [ABSTRACT FROM AUTHOR]
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- 2004
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11. Access to perinatal cardiology in the United Kingdom.
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Gardiner, H. M.
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PERINATAL cardiology , *DISEASES in women , *CONGENITAL heart disease , *MEDICAL care , *EQUALITY , *CORONARY heart disease prevention , *CORONARY disease , *COST effectiveness , *ECHOCARDIOGRAPHY , *FETAL ultrasonic imaging , *HEALTH services accessibility , *MATERNAL health services , *PRENATAL care , *PRENATAL diagnosis - Abstract
The Great Britain's audit of important cardiac diagnoses made antenatally suggests that postcode inequality may exist. Social inequality augmented by decreased access to appropriate health care has been shown to influence both the predisposition to coronary artery disease and its outcome in the adult population. Ultrasound screening at 18-20 weeks of gestation detects at least 85% of spinal and renal abnormalities in the fetus, and yet overall only 23% of structural cardiac abnormalities were detected in the survey. The opportunities for antenatal detection of congenital heart disease occur at a woman's local hospital rather than in specialist centres.
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- 2001
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