Figure 4 - uploaded by Milan Stanojevic
Content may be subject to copyright.
Postnatal findings of anophtalmia, median facial cleft and holoprosencephaly in a fetus with Patau syndrome (trisomy 13).
Source publication
With all of our present knowledge, high technology diagnostic equipment, electronic databases and other available supporting resources, detection of fetal syndromes is still a challenge for healthcare providers in prenatal as well as in the postnatal period. Prenatal diagnosis of fetal syndromes is not straightforward, and it is a difficult puzzle...
Context in source publication
Context 1
... clefts are always severe and usually part of some sequence such as holoprosencephaly, with gross facial appearance (cyclopia, midline facial cleft to a diverse extent, cebocephaly, flat nose). It is a common feature of some chromosomal syndromes such as Patau syndrome (trisomy 13) (Figure 4) and Edwards syndrome (trisomy 18). Trisomy 13 is the most common syndrome associated with alobar holoprosencephaly and facial clefts. ...
Citations
... Since three-dimensional (3D) 1-3 and four-dimensional (4D) [4][5][6] ultrasound were developed for women's and fetal cardiac imaging in the 1980 and 1990s, it has become increasingly matured for clinical applications. [7][8][9][10][11][12][13][14] A recent review by the 3D special interest group (3D-SIG) of the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) has found that, of a total of 287 formal articles (excluding its World Congress Abstracts) published during 2012 in the journal-UOG, 99 (34%) had included 3D, 4D or terms closely related to 3D/4D ultrasound imaging the virtual organ computer-aided analysis (VOCAL), spatiotemporal image correlation (STIC), etc] (Table 1). 15 However, multidimensional imaging terms used in those publications were inconsistent in articles not just by different author groups, but also by the same author groups or even within a single article. ...
... However, it can only provide a crosssectional image of a certain part of the fetus, which cannot show the subtle structural features of the fetus, nor can it provide clearer and more effective stereoscopic images [23]. With the advancement of modern medical technology and the trend of refinement of medical devices, 4D-US has become an important supplement to 2D-US [24]. ...
Objective:
This study mainly analyzes the diagnostic value of two-dimensional ultrasonography (2D-US) combined with four-dimensional ultrasonography (4D-US) in prenatal ultrasound screening of fetal congenital malformations (CMs) and explores the high-risk factors affecting fetal malformations.
Methods:
The clinical and imaging data of 2247 pregnant women who underwent prenatal fetal malformation screening in the General Hospital of Ningxia Medical University between February 2020 and October 2021 were collected and analyzed, retrospectively. All pregnant women underwent 2D-US, and those with suspected fetal malformations were further inspected by 4D-US. The accuracy of ultrasound examination results relative to actual pregnancy outcomes was analyzed, taking the neonatal malformation after induced labor or actual delivery as the gold standard, and the risk factors influencing the occurrence of fetal malformations were discussed.
Results:
A total of 87 cases (3.87%) of fetal malformations were detected out of the 2247 parturients examined. The accuracy, sensitivity, and specificity of 2D-US diagnosis were 81.40%, 43.68%, and 82.92%, respectively, while the data were 83.67%, 51.72%, and 84.95% for 4D-US, respectively, and 93.59%, 90.80%, and 93.70%, respectively, for 2D-US +4D-US. The combined diagnosis of 2D-US +4D-US achieved statistically higher accuracy, sensitivity, and specificity than either of them alone. One-way analysis of variance and multivariate logistic regression analysis identified that the independent risk factors affecting fetal malformation were age ≥ 35, history of adverse pregnancy and childbirth, medication during pregnancy, toxic exposure during pregnancy, and history of seropositive for TORCH-IgM. Folic acid supplementation was a protective factor.
Conclusions:
Prenatal US is an effective approach for screening fetal malformations. 2D-US +4D-US can effectively improve the diagnostic rate of fetal malformations. For pregnant women with high-risk factors, prevention should be given priority, and prenatal screening and prenatal diagnosis should be standardized to reduce the occurrence of fetal malformations.
... However, it had certain limitations [e.g., artifacts and low image resolution] which reduce its diagnostic accuracy [20] . With technological advances, three-and fourdimensional ultrasound were introduced and played a supplementary role to 2D ultrasound, and could stand alone as an effective diagnostic tool [21] . ...
Background: Midline cerebral structures are essential for the normal morphogenesis and function of the fetal brain. However, the diagnosis of congenital anomalies of midline cerebral structures. The Aim of The Work: This study aimed to evaluate the role of 2D versus 4D ultrasound in the diagnosis of midline structures of the fetal brain at the second trimester of pregnancy.Patients and Methods: 200 pregnant women at the second trimester [18-22 weeks] were selected. They were clinically evaluated to check the female and fetal wellbeing. Then a screening of fetal brain midline strictures had been performed by two- and four-dimensional ultrasound, aiming to discover any anomalies of the fetal brain midline structure. Both scans were compared with the postnatal transcranial ultrasound.Results: The 2D ultrasound detected no abnormality in 194 out of 200 fetuses [97.0%], and 4 cases [2.0%] had mega-cisterna magna, and 2 cases [1.0%] had encephalomylocele, which were detected by the 4 D and confirmed by postnatal transcranial ultrasound. The 4 D US discovered 2 cases [1.0%] of Dandywalker malformation, which was confirmed by postnatal transcranial US. There was a complete agreement between prenatal 4D ultrasound and postnatal transcranial ultrasound. The prenatal 2D ultrasound had a sensitivity of 75.0%, specificity of 100.0%, PPV of 100.0%, NPV of 98.7% and overall accuracy of 99.0%. Otherwise, the prenatal 4D ultrasound was 100.0% sensitive and specific. Conclusion: 4D ultrasound showed superiority in the diagnosis and confirmation of the fetal brain midline structure’s abnormalities. Also, the prenatal 4D ultrasound was 100.0% sensitive as postnatal transcranial US.
... Advanced prenatal diagnosis is now available due to the high-end USG machines, 3D/4D multiplanar interpretations, supplemented by rapidly advancing technologies in prenatal genetic diagnosis [7,8]. Internationally trained accredited foetal medicine specialists are now in India who can even perform advanced therapeutic interventions. ...
Background
The present observational data from the fetal medicine unit aim to identify gaps in prenatal screening modalities employed in the primary obstetric care population in coastal Karnataka.
Methods
A retrospective observational study of all referrals to Fetal Medicine unit is over 2 years. For each fetal abnormality, we reviewed the literature to note the range of gestational age at which the abnormality should almost always be diagnosed. Taking this as standard, the gestational age at which each of these problems was diagnosed and referred was noted down. They were compared and analysed to understand the efficiency of prenatal screening practices in the referral population. The final perinatal outcome was also noted down in order to assess the impact on perinatal mortality/morbidity.
Results
A total of 277 cases were referred to fetal medicine unit. Two hundred twenty-eight cases (82.31%) were low risk pregnancies. Among 277 cases, 200 (72.2%) had structural abnormalities, 7 (2.5%) chromosomal/ genetic abnormalities, 61 (22.02%) isolated soft markers, and 9 (3.2%) twin-related problems. Detection rate of structural abnormalities was 33% at 14 weeks and 52.22% at 20 weeks, considering those anomalies usually diagnosed by these gestational age windows. The primary reason for delayed diagnosis was non-performance of ultrasound “on time”, rather than missed diagnosis. Fifty-three per cent (106 out of 200) of all the fetal structural abnormalities were diagnosed beyond 20 weeks. Average gestational age at mid-trimester anomaly scan in this group was between 20 and 24 weeks. Sixty-one patients were referred due to isolated soft markers, 30 beyond 20 weeks. Eighty per cent of them did not have any aneuploidy screening in pregnancy.
Conclusion
Practice of fetal medicine hugely depends upon appropriate prenatal screening practices in the referral population. There is an urgent need to bring in standard protocols for Prenatal Screening across all the primary obstetric care providers, both in the public and private sectors. Considering the huge burden of delayed prenatal diagnosis in our country, the proposed revision of MTP bill is a welcome change in fast-growing field of fetal diagnosis and therapy.
... The KANET appears to offer useful information about fetal neurobehavior and has the potential to detect and discriminate normal, borderline, and abnormal fetal behavior mainly in high-risk pregnancies, so it can be a valuable diagnostic tool for fetal neurological assessment. 51,55,[75][76][77][78][79][80] So far KANET has proven its usefulness in standardization of neurobehavioral assessment, with the potential of prenatal detection of fetuses with severe neuronal dysfunction. 51 According to the Bucharest consensus statement 81 on KANET, an experienced ultrasound specialist needed to perform about 80 KANETs in order to be familiar with the KANET assessment of the fetus with 4D US in 20 minutes. ...
... The KANET can also make a valuable contribution to the detection, diagnosis and sometimes prognosis of many fetal syndromes. 76,77 In Cochrane meta-analysis, it has been stated that early intervention programs for preterm infants have a positive influence on cognitive and motor outcomes during infancy, with the cognitive benefits persisting into preschool age. 78 Of course, further research is needed to determine which early developmental interventions really make a difference in improving the cognitive or motoric function of neonates. ...
... It is obvious that we do not have many effective treatment options for cases of neurological impairment, but it appears that the earlier you apply these treatments, the better the results, and the earlier you have a diagnosis then indeed you can apply earlier these treatments to the correct group of people, and this is an area where definitely KANET can be a pioneer. [75][76][77][78][79][80]81,92 dIscussIon The study of motoric and cognitive function of the fetus remains one of the most challenging issues in perinatal medicine. Maternal perception in combination with the application of 2D ultrasound offered some valuable information regarding fetal movements, leaving however many unanswered questions about the overall motoric activity of the fetus and offering very limited information regarding the cognitive function of the fetus. ...
... As modern medical technologies advance, medical instruments become more so-phisticated. In this trend, 4D ultrasound has become an important supplement to 2D ultrasound (16). 4D ultrasound can scan the target from multiple angles giving real-time multi-layer images. ...
Background:
To assess the clinical value of two-dimensional (2D) plus four-dimensional (4D) ultrasonography in diagnosis of fetal craniocerebral anomalies.
Methods:
Retrospective analysis was performed on the sonographic features of 83 maternity patients admitted to Northwest Women's and Children's Hospital, Xian China from January 2013 to December 2017 diagnosed with suspected fetal anomalies of the brain and skull through 2D and 4D ultrasonography.
Results:
Fifty six patients were diagnosed with the anomalies by 2D ultrasonography only, 65 patients by 4D ultrasonography only, and 74 patients by 2D plus 4D ultrasonography.76 patients were confirmed to have fetal craniocerebral anomalies after birth or induced labor. Diagnostic accuracies of 2D ultrasound only, 4D ultra-sound only, and 2D plus 4D ultrasound were 68.67%, 81.93% and 95.18%, respectively (P<0.05). The accuracy of 2D plus 4D ultrasound was greater than those of 2D ultrasound only and 4D ultrasound only, and the accuracy of 4D ultrasound only was higher than that of 2D ultrasound only (P<0.05). The sensitivity of 2D plus 4D ultrasound was greater than those of 2D ultrasound only and 4D ultrasound only (P<0.05). The specificity of 2D plus 4D ultrasound was greater than those of 2D ultrasound only and 4D ultrasound only (P<0.05).
Conclusion:
Combined ultrasonography can better differentiate fetal craniocerebral anomalies, providing early and more accurate information for clinicians as well as maternity patients to make a decision. This clinical practice would be valuable for improving the quality of the newborn population.
... Over the time, 3D US equipment and technology dramatically enhanced the qality of images, shortened the time of acquisition, and at the same time improved our ability to assess and visualize the normal and to detect abnormal development of a embryo and fetus in utero. [1][2][3][4][5][6][7][8][9][10][11][12][13] Acquired volumes can be stored, re-loaded and re-evaluated at any time. Different imaging modalities can be applied for more detailed survey. ...
... Particular region of interest such as small defects can be displayed in the ideal plane that sometimes cannot be achived by conventional 2D US technique. 3,4,9,10 This increases the accuracy of the detection and diagnosis of various malformations and fetal syndromes. 2 nancy 2,4,10-12 partly due to technological advances and benefits of imaging quality with 3D/4D US technology, as reported by many authors. ...
... The difference in prenatal detection rates for each region or country can be partly explained by differences in screening policies and follow-up practices, as well as the possible variations in practitioners' skills and available equipment. 4 Detecting one anomaly should always raise doubts about the presence of other anomalies and should therefore serve as a trigger that will encourage us to further investigate and raise awareness of the possible existence of syndromes. 2,[4][5][6][7][8][9] Other triggers can be: positive personal or family history of syndrome, or a child born with a syndrome, consanguinity, exposure to teratogens (drugs, radiation) and other harmful agents (e.g. ...
The 3D ultrasound technique with different visualization and manipulation capabilities of stored volume, provides a unique opportunity for a detailed view of normal and abnormal fetal development. If facial anomaly is suspected, this technique will help in the evaluation and gained images will give some answers to question about severity and extent of anomalies. Particularly handy tool may be when communicating the neonatologist, pediatrician, plastic and reconstructive head and neck surgeon and especially when consulting with the parents of the child. However, as in any imaging technique (ultrasound, MSCT, MRI), you need to know the dome and limitations of 3D / 4D rendering and to be aware of possible artifacts and traps. From the first trimester to the next, as soon as it becomes possible to detect congenital anomaly by prenatal ultrasound, the question ariseswhat can and should be done. Many ethical dilemmas present at the time.2, 4 Contemporary medicine faces some major problems when it has the ability to prolong life of severely sick baby with potentially lethal congenital syndromes. Taking specific ultrasonic diagnostics into account, the idea is to find the balance between the advantages and limitations of sonographic assessment. At the same time, it should be possible to optimize recommendations with the expectations of parents of potentially seriously ill baby. Given the complexity of prenatal diagnosis of syndrome, everything involved in the process is also complex. This includes conformation of prenatal diagnosis postnatally and determination of the short and long term prognosis if possible to assist parents who are facing a baby with syndrome. 2, 4 It is essential to point out the necessity of complex, lifelong and costly multidisciplinary care for severely ill baby. All the aforementioned, 3D / 4D US techniques promise to improve the accuracy of clinicians in detection of fetal abnormalities and detecting fetal syndromes as early as possible. There are many advantages in prenatal detection of fetal syndromes already described, but there is also a great room for improvement. Since new 3D / 4D ultrasound technology becomes more available in everyday clinical practice, the clinician should remain well-informed, well trained and monitor new diagnostic capabilities. Continuous education is necessary. In this way, the number of fetal abnormalities and syndromes detected prenatally will probably increase over time.4 Auxiliary tools such as network databases ("online databases") that integrate all the necessary information should be included and used for better diagnostic precision.
... Comparisons of the New Model With Previously Published Formulas in the Validation GroupWith the rapid development of 3D techniques,36,37 we expected that US could reach better accuracy and be extended to more areas. Our result is encouraging. ...
Objectives
To establish a new model for birth weight prediction using 2‐ and 3‐dimensional ultrasonography (US) by principal component analysis (PCA).
Methods
Two‐ and 3‐dimensional US was prospectively performed in women with normal singleton pregnancies within 7 days before delivery (37–41 weeks' gestation). The participants were divided into a development group (n = 600) and a validation group (n = 597). Principal component analysis and stepwise linear regression analysis were used to develop a new prediction model. The new model's accuracy in predicting fetal birth weight was confirmed by the validation group through comparisons with previously published formulas.
Results
A total of 1197 cases were recruited in this study. All interclass and intraclass correlation coefficients of US measurements were greater than 0.75. Two principal components (PCs) were considered primary in determining estimated fetal birth weight, which were derived from 9 US measurements. Stepwise linear regression analysis showed a positive association between birth weight and PC1 and PC2. In the development group, our model had a small mean percentage error (mean ± SD, 3.661% ± 3.161%). At least a 47.558% decrease in the mean percentage error and a 57.421% decrease in the standard deviation of the new model compared with previously published formulas were noted. The results were similar to those in the validation group, and the new model covered 100% of birth weights within 10% of actual birth weights.
Conclusions
The birth weight prediction model based on 2‐ and 3‐dimensional US by PCA could help improve the precision of estimated fetal birth weight.
... Cerebral palsy is one of the many functional neurological abnormalities that is poorly understood and needs further investigation. 6 Further advancement was the introduction of high-quality three-dimensional/four-dimensional ultrasound (3D/4D US), which allowed the observation of dynamic fetal activity with good image resolution. 7 Therefore, it was assumed that the 4D US evaluation of fetal behavior can give the possibility to differentiate the normal from abnormal brain development. ...
Introduction: To assess whether there is a difference in the behavior of fetuses from high-risk pregnancies compared with fetuses from low-risk pregnancies. Materials and methods: We applied the Kurjak antenatal neurodevelopmental test (KANET) in high-risk (n = 65) and low-risk (n = 119) pregnancies and compared the results. High-risk pregnancies included women with threatened preterm delivery (with premature rupture of membranes and without premature rupture of membranes), hypertension, diabetes, intrauterine growth restriction, and Rh isoimmunization. Results: There was a difference between the results of KANET applied in these two groups; most of borderline and abnormal results were found in high-risk group, especially from pregnancies complicated by threatened preterm labor. The subgroup of pregnant women with premature rupture of membranes had most of the modified KANET scores. Conclusion: The median values of the movements of fetuses in low-risk pregnancies were different from those in pregnancies threatened by premature birth and from the rest of the high-risk pregnancies. Fetuses from high-risk pregnancies, including threat of premature birth, had a less active fetal behavior than those from low-risk group. © 2018, Jaypee Brothers Medical Publishers (P) Ltd. All rights reserved.
... The leading strategy was to disclose the concept of embryo/fetus as a patient. [60][61][62] Autonomous moral status for the fetus/embryo would mean that one or more traits they possess (the embryo/fetus itself), regardless and independent of the pregnant woman or any other aspect, result in, and therefore ground obligation to the embryo/fetus apart from the pregnant woman and her doctor. ...
The beginning of human life and the whole mystery about it has
fascinated people from time immemorial. It has been the subject
of various scientific researches and religious debates. Different
views on "the beginning" and distinct definitions are peculiar
from individual to individual, in diverse countries, cultures,
and religions. Substantial progress has been made so far that
philosophers, scientists, ethicists, sociologists, and theologies
are closer and closer to achieve some consensus, realizing
that most of their views can be seen as complementary and
do not exclude each other. Evaluating the process of development of human life, we can surely say that at some point there
is the beginning and the end. Pointing out exact moments in
time remains unascertained. Scientifically, from the biological
standpoint, there are several moments which are more or less
equally important and are rather seen as a continuous dynamic
process that develops fluently.
Keywords: Beginning of human life, Bioethics, Embryo,
Fertilization, Religion, Science.
