Detection Rate Of Congenital Anomalies Research Articles

Autonomous fetal morphology scan: deep learning + clustering merger – the second pair of eyes behind the doctor

The main cause of fetal death, of infant morbidity or mortality during childhood years is attributed to congenital anomalies. They can be detected through a fetal morphology scan. An experienced sonographer (with more than 2000 performed scans) has the detection rate of congenital anomalies around 52%. The rates go down in the case of a junior sonographer, that has the detection rate of 32.5%. One viable solution to improve these performances is to use Artificial Intelligence. The first step in a fetal morphology scan is represented by the differentiation process between the view planes of the fetus, followed by a segmentation of the internal organs in each view plane. This study presents an Artificial Intelligence empowered decision support system that can label anatomical organs using a merger between deep learning and clustering techniques, followed by an organ segmentation with YOLO8. Our framework was tested on a fetal morphology image dataset that regards the fetal abdomen. The experimental results show that the system can correctly label the view plane and the corresponding organs on real-time ultrasound movies.Trial registrationThe study is registered under the name “Pattern recognition and Anomaly Detection in fetal morphology using Deep Learning and Statistical Learning (PARADISE)”, project number 101PCE/2022, project code PN-III-P4-PCE-2021–0057. Trial registration: ClinicalTrials.gov, unique identifying number NCT05738954, date of registration 02.11.2023.

OP28.10: Routine third trimester ultrasound screening detection rate of congenital anomalies

To evaluate the detection rate of congenital anomalies at the routine third trimester ultrasound screening. We conducted a prospective study of 17063 consecutive pregnancies between 2009 and 2013. In all cases ultrasound screening of congenital defects was carried out at each trimester of the gestation (11-14 weeks; 18-22 weeks; 31-35 weeks). We only included in the study those pregnancies delivered in our hospitals. The overall incidence of fetal malformations was 1.9% (n = 326), of which 31.9% (n = 104) were diagnosed at 11-14 weeks. The following 2nd trimester scan revealed 120 (36.8%) new fetal malformations. An additional 102 (31.3%) structural abnormalities were found in the routine third trimester ultrasound screening. These were mainly abnormalities of the urogenital system (n = 39), followed by congenital heart diseases (n = 28) and central nervous system (n = 12). Third trimester ultrasound presented the best rate for urogenital anomalies, and similar detection rate of the second trimester scan for congenital heart diseases and gastrointestinal system. The 4.1% (n = 5) of congenital anomalies that requested TOP according to our legal framework were diagnosed at third trimester. The ultrasound routine scan in the third trimester increased the detection rate of previously unknown structural abnormalities.

Advances in fetal imaging.

While ultrasound (US) has been a part of prenatal care for almost 40 years, technical progress over the last two decades has resulted in improved image quality and detection rate of congenital anomalies. The past 15 years have also seen the expansion of three-dimensional (3D) US, providing enhancements over with 2D US, and more realistic images of babies to parents and providers. Fetal magnetic resonance imaging (MRI) was first performed over 30 years ago, and has undergone major technical improvement over the past 15 to 20 years. Fetal MRI complements US by providing better visualization in the fetus when US is limited such as in oligohydramnios or severe maternal obesity. It offers a larger field of view and better tissue contrast than US and is not limited by shadowing from osseous structures. However, MRI has a limited resolution compared with US, is less readily available, and more expensive. While indications for fetal MRI have been clearly established for some abnormalities, such as neurological anomalies, other indications especially for fetal body imaging are not as clearly defined. In this article, we discuss recent developments in fetal MRI and 3D US and their common and newest indications.

A randomized controlled trial of third‐trimester routine ultrasound in a non‐selected population

To compare detection rates of small-for-gestational-age fetuses, large-for-gestational-age fetuses, congenital anomalies and adverse perinatal outcomes in pregnancies randomized to third-trimester routine ultrasound or ultrasound on clinical indication. Randomized controlled trial. National Center for Fetal Medicine in Norway between 1989 and 1992. A total of 6780 pregnancies from a non-selected population. Two routine ultrasound examinations at 18 and 33 weeks were compared with routine ultrasound at 18 weeks and ultrasound on clinical indication. Suspected small-for-gestational-age fetuses were followed with serial scans and cardiotocography. Doppler ultrasound was not used. Detection rates of small-for-gestational-age and large-for-gestational-age fetuses, congenital anomalies and adverse perinatal outcomes. Third trimester routine ultrasound improved detection rates of small-for-gestational-age fetuses from 46 to 80%, but overall perinatal morbidity and mortality remained unchanged. Detection of large-for-gestational-age fetuses increased from 36 to 91%. There was a significant increase of induction of labor and elective cesarean sections due to suspected small-for-gestational-age and a significant decrease of induction of labor and elective cesarean sections due to suspected large-for-gestational-age in the study group; there were no other differences regarding intervention. The detection rate of congenital anomalies was 56%, with no significant difference between the groups. Routine use of third-trimester routine ultrasound increased detection rates of small-for-gestational-age and large-for-gestational-age fetuses. This did not alter perinatal outcomes. Third-trimester ultrasound screening should not be rejected before a policy of adding Doppler surveillance to the high-risk group identified has been investigated further.

English

OBJECTIVES: Purpose of our study was to determine the detection rate of congenital anomalies in second trimester by single prenatal ultrasound screening in an unselected population and to evaluate the subsequent pregnancy outcome and to compare the results with published series using standardized criteria. SUBJECTS AND METHODS - One thousand pregnant women at 18-22 weeks' gestation were screened by prenatal ultrasound examination. We compared these sonographic reports with pregnancy outcomes established by postnatal echocardiography and ultrasound examinations of neonates and autopsy for dead fetuses. Statistical analysis was performed on two units; malformed fetus and malformation itself. RESULTS - A total of 27 fetuses with 30 anomalies were identified by prenatal ultrasound. Prospectively 2 babies with 2 anomalies were found to be normal. On postnatal examination 13 babies were found to have 14 anomalies which could not be detected by ultrasound. Thus the sensitivity of ultrasound in detecting congenital anomalies and anomalous fetuses was 66.6% and 67.5% respectively. Highest detection rate was observed for CNS anomalies (88.8%) but that of craniofacial and musculoskeletal anomalies was not very satisfactory (33% in each system). CONCLUSION -This study shows rate of detection of fetal anomalies is satisfactory for most organ systems except cardiac, musculoskeletal and craniofacial malformations.

Obstetrical sonography in obese women: A review

Obstetric sonographic imaging in pregnant women is adversely affected by obesity with a negative impact on the detection rate of congenital anomalies. This review aims to analyze relevant data regarding this issue and to discuss clinical and technical problems associated with sonographic examination of obese pregnant women.

Audit of the ultrasound detection of congenital anomalies in Royal Gwent Hospital, Newport, UK

The authors would like to present an audit on the detection rate of congenital anomalies done in a busy district general hospital. The aim of our study is to look...

327: Does obesity affect the accuracy and detection rate of congenital anomalies during ultrasound evaluation?

Routine ultrasound screening in the second trimester detects 40-70% of major congenital anomalies. We examined the effect of increasing BMI on the detection rate and accuracy of prenatally diagnosed congenital anomalies.

Ethics and Neonatology in Israel

Israel is a country of controversies: with high-quality medical care available to all and a high antenatal detection rate of congenital anomalies followed by abortion, the incidence of infants born with malformations has been reduced dramatically in the last decade. On the other hand, religious and strong traditional ethnic attitudes on fertility have led to a world record rate of ARTs and multiple births, which have increased the incidence of VLBW infants and the long-term handicap that follows their survival.

Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe

Objectives: Birth defects are a major health burden. Primary prevention is at present emerging, i.e. folate supplementation. When it is not possible, as is still the case for most birth defects, research is needed to determine how an optimal provision of prenatal diagnosis and use of services can be achieved. Ultrasound scans in the midtrimester of pregnancy are now a routine part of antenatal care in most European countries. The objective of this study was to evaluate the prenatal diagnosis of congenital anomalies by fetal ultrasonographic examination across Europe. Methods: Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to 3 fetal scans offered, including 2 for biometric purposes and 1 for search of congenital anomalies, the anomaly scan. Results: There were 8,126 cases with congenital anomalies with an overall prenatal detection rate of 44.3%. Termination of pregnancy was performed in 1,657 cases (21.8%). There was significant variation in the prenatal detection rate between regions with the lowest detection rate in registries of countries without routine fetal screening (Denmark and The Netherlands) and the highest detection rate in registries of countries with at least 1 anomaly scan (France, Germany, Italy, Spain, UK). However, there were large variations among the registries with a high detection rate. There were significant differences in the prenatal detection rate and proportion of induced abortions between isolated anomalies and associated anomalies (chromosomal aberrations, recognized syndromes, and multiple without chromosomal aberrations or recognized syndromes). Conclusions: Prenatal detection rate of congenital anomalies by fetal scan varies significantly between registries of European countries even with the same screening policy. Prenatal detection of congenital anomalies is significantly higher when associated malformations are present. The rate of induced abortions varies between registries of countries even with the same detection rate of congenital anomalies. The variation described may be due to cultural and policy differences.

Routine Ultrasound Screening of Congenital Anomalies: An Overview of the European Experience

Results from ultrasound in low-risk pregnant women are significant when routine screening is performed on a large population because the anomalies are rare. Professionals expect from routine ultrasound objective information that cannot usually be obtained by clinical procedures. Parents seek reassurance about the absence of fetal congenital anomalies and overall fetal health. Therefore, Europeans view routine ultrasound as a part of obstetrical care, capable of filling important gaps by delivering much key information for improving obstetrical practice. Fetal anomalies screening (FAS) requires higher education and qualifications than obstetrical ultrasound. The health insurance systems support ultrasound screening and allow its spread in most European countries; approximately 98% of pregnant women are examined by ultrasound and, frequently, two to three times (usually once per trimester). Detection rate of congenital anomalies is about 28% in geographical areas (private practice and hospitals), 60 to 80% in Ob/Gyn's ultrasound labs. Routine ultrasound screening policy has not proved to result in an immoderate use of ultrasound; on the contrary, chaotic use of routine ultrasound can lead to an unproductive and excessive number of scans. New trends in FAS, such as the early detection of fetal defects and chromosomal anomalies, bring more arguments for routine screening. Effectiveness should increase by enhancing education and training and the systematic referral for FAS to accredited laboratories.

Evaluation of routine prenatal diagnosis by a registry of congenital anomalies.

Prenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In a previous study (Prenat. Diagn., 12, 263-270, 1992), considering the period 1979-1988, we have shown that prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. In 1991 and 1992, the percentage of termination for Down syndrome was 44.4 and 41.9 per cent, respectively. From 1989 to 1992, the detection rate and the specificity of prenatal diagnosis by ultrasonographic examination were improved. The detection rate for isolated malformations (fetuses with only one anomaly) and for multiple malformed children was 26.2 and 66.0 per cent, respectively. The detection rate of congenital anomalies by ultrasonography was variable for the different categories of malformation. A high detection rate was observed for anencephaly (100 per cent) and urinary tract malformation. A low detection rate was seen for cleft lip (17.5 per cent) and limb reduction defects (18.2 per cent).