Fetal Face Research Articles

Fetal Face: Enhancing 3D Ultrasound Imaging by Postprocessing With AI Applications: Myth, Reality, orLegal Concerns?

The use of artificial intelligence (AI) platforms is revolutionizing the performance in managing metadata and big data. Medicine is another field where AI is spreading. However, this technological advancement is not amenable to errors or fraudulent misconducts. International organization and recently the European Union have released principles and recommendations for an appropriate use of AI in healthcare. In prenatal ultrasound diagnosis, the use of AI in daily practice is having a revolutionary impact. Notwithstanding, the diagnostic enhancement should be regulated, and AI applications should be developed to guarantee correct imaging acquisition and further postprocessing.

Maternal alcohol consumption up to mouse organogenesis disrupts fetal-placental interface at mid-gestation associated with dysregulation of AQP3 immunoexpression

Adequate trophoblast development during placentation involves the AQP3 regulation. The link between potential placental fetal-maternal interface abnormalities and AQP3 expression after perigestational alcohol intake was not explored yet. Female mice were treated (TF) with 10 % ethanol in drinking water before and up to day 10 of gestation, and control females (CF) with ethanol-free water. At gestational day 13, TFs showed increased fetal/placental weight ratio and reduced histological placental thickness compared to CFs. TF-placentas had disorganized fetal face layers, increased junctional zone (JZ), and decreased labyrinth (Lab). Concomitantly, immunoexpression of cleaved caspase-3 significantly increased in TF-JZ and Lab vs controls. Consistent with placental changes, AQP3 expression was higher in junctional trophoblast giant cells (TGCs), glycogen cells (GCs), spongiotrophoblasts (spg), and lab-syncytiotrophoblasts compared to CF-placentas. This study reveals, for the first time, that perigestational alcohol consumption up to organogenesis causes abnormal placental development associated with dysregulation of AQP3 expression.

An effective ultrasound fetal palate screening software based on the “sequential sector scan through the oral fissure” and three-dimensional ultrasound

BackgroundOrofacial clefts are one of the most common congenital malformations of the fetal face and ultrasound is mainly responsible for its diagnosis. It is difficult to view the fetal palate, so there is currently no unified standard for fetal palate screening, and the diagnosis of cleft palate is not included in the relevant prenatal ultrasound screening guidelines. Many prenatal diagnoses for cleft palate are missed due to the lack of effective screening methods. Therefore, it is imperative to increase the display rate of the fetal palate, which would improve the detection rate and diagnostic accuracy for cleft palate. We aim to introduce a fetal palate screening software based on the “sequential sector scan though the oral fissure”, an effective method for fetal palate screening which was verified by our follow up results and three-dimensional ultrasound and to evaluate its feasibility and clinical practicability.MethodsA software was designed and programmed based on “sequential sector scan through the oral fissure” and three-dimensional ultrasound. The three-dimensional ultrasound volume data of the fetal face were imported into the software. Then, the median sagittal plane was taken as the reference interface, the anterior upper margin of the mandibular alveolar bone was selected as the fulcrum, the interval angles, and the number of layers of the sector scan were set, after which the automatic scan was performed. Thus, the sector scan sequential planes of the mandibular alveolar bone, pharynx, soft palate, hard palate, and maxillary alveolar bone were obtained in sequence to display and evaluate the palate. In addition, the feasibility and accuracy of the software in fetal palate displaying and screening was evaluated by actual clinical cases.ResultsFull views of the normal fetal palates and the defective parts of the cleft palates were displayed, and relatively clear sequential tomographic images and continuous dynamic videos were formed after the three-dimensional volume data of 10 normal fetal palates and 10 cleft palates were imported into the software.ConclusionsThe software can display fetal palates more directly which might allow for a new method of fetal palate screening and cleft palate diagnosis.

Three-dimensional Sonography in the Evaluation of Normal and Abnormal Fetal Face

Three-dimensional Sonography in the Evaluation of Normal and Abnormal Fetal Face

Prenatal Diagnosis of a Case of Asyndromic Tessier Class-7 Bilateral Complete Transverse Facial Cleft: Case Report with Review of Literature

AbstractTransverse or lateral facial clefts are atypical and rare forms of facial clefts identified as Tessier type 7 in the classification system for orofacial clefts. They have an overall incidence of 1 in 60,000 to 300,000 live births. We report a case diagnosed at 22 weeks of gestation. The two-dimensional (2D) ultrasound examination revealed a single live fetus with a persistently open mouth, failure of visualization of lateral commissures, and mild retrognathia. The three-dimensional (3D) surface rendering of the fetal face demonstrated a bilateral horizontal facial cleft that extended from the lateral commissures to the ears. No additional anomalies were identified. Fetal karyotype and whole exome sequencing reports did not reveal any genomic imbalances. The case highlights the importance of 2D oblique and 3D imaging of the fetal face when subtle findings are detected in routine 2D views. A review of the literature is provided to enhance the understanding of the entity.

Fetal face shape analysis from prenatal 3D ultrasound images

3D ultrasound imaging of fetal faces has been predominantly confined to qualitative assessment. Many genetic conditions evade diagnosis and identification could assist with parental counselling, pregnancy management and neonatal care planning. We describe a methodology to build a shape model of the third trimester fetal face from 3D ultrasound and show how it can objectively describe morphological features and gestational-age related changes of normal fetal faces. 135 fetal face 3D ultrasound volumes (117 appropriately grown, 18 growth-restricted) of 24-34 weeks gestation were included. A 3D surface model of each face was obtained using a semi-automatic segmentation workflow. Size normalisation and rescaling was performed using a growth model giving the average size at every gestation. The model demonstrated a similar growth rate to standard head circumference reference charts. A landmark-free morphometry model was estimated to characterize shape differences using non-linear deformations of an idealized template face. Advancing gestation is associated with widening/fullness of the cheeks, contraction of the chin and deepening of the eyes. Fetal growth restriction is associated with a smaller average facial size but no morphological differences. This model may eventually be used as a reference to assist in the prenatal diagnosis of congenital anomalies with characteristic facial dysmorphisms.

Ultrasound Detection of Fetal Palate Development in the Early Stages of the Second Trimester and Its Clinical Application.

To establish normal values of palatal bone growth in fetuses at different gestational weeks in the early stages of the second trimester and to explore the clinical application value of the four-step ultrasound screening method for fetal cleft lip and palate. A prospective study of prenatal ultrasound screening. Secondary maternal and child health institutions. 300 fetuses of 12 to 20 +6 weeks gestation without cleft lip and/or palate; 8538 fetuses at high risk of cleft lip and palate with malformations or karyotypic abnormalities. None. palatomandibular diameter (PMD) and transverse palatal diameter was measured and establish their typical values. (1) There is a typical "superimposed line" sign in the median sagittal section of the typically developing fetal face from 12 to 20+6 weeks of gestation. (2) The PMD and hard palate transverse diameter of fetuses from 12 to 20+6 weeks of gestation increased linearly with time. (3) Among 8538 high-risk fetuses, 21 cases of cleft lip and palate were diagnosed by the four-step ultrasound screening method in the early stages of the second trimester. The median sagittal section of the typically developing fetal face in the early stages of the second trimester presents a typical "superimposed line" sign, and the PMD and transverse palatal diameter increase with time. The four-step ultrasound screening method for fetal cleft lip and palate in the early stages of the second trimester has high clinical application value.

An Innovative Three-Stage Model for Prenatal Genetic Disorder Detection Based on Region-of-Interest in Fetal Ultrasound.

A global survey has revealed that genetic syndromes affect approximately 8% of the population, but most genetic diagnoses are typically made after birth. Facial deformities are commonly associated with chromosomal disorders. Prenatal diagnosis through ultrasound imaging is vital for identifying abnormal fetal facial features. However, this approach faces challenges such as inconsistent diagnostic criteria and limited coverage. To address this gap, we have developed FGDS, a three-stage model that utilizes fetal ultrasound images to detect genetic disorders. Our model was trained on a dataset of 2554 images. Specifically, FGDS employs object detection technology to extract key regions and integrates disease information from each region through ensemble learning. Experimental results demonstrate that FGDS accurately recognizes the anatomical structure of the fetal face, achieving an average precision of 0.988 across all classes. In the internal test set, FGDS achieves a sensitivity of 0.753 and a specificity of 0.889. Moreover, in the external test set, FGDS outperforms mainstream deep learning models with a sensitivity of 0.768 and a specificity of 0.837. This study highlights the potential of our proposed three-stage ensemble learning model for screening fetal genetic disorders. It showcases the model's ability to enhance detection rates in clinical practice and alleviate the burden on medical professionals.

Fetal brain activity and the free energy principle.

To study whether the free energy principle can explain fetal brain activity and the existence of fetal consciousness via a chaotic dimension derived using artificial intelligence. In this observational study, we used a four-dimensional ultrasound technique obtained to collect images of fetal faces from pregnancies at 27-37weeks of gestation, between February and December 2021. We developed an artificial intelligence classifier that recognizes fetal facial expressions, which are thought to relate to fetal brain activity. We then applied the classifier to video files of facial images to generate each expression category's probabilities. We calculated the chaotic dimensions from the probability lists, and we created and investigated the free energy principle's mathematical model that was assumed to be linked to the chaotic dimension. We used a Mann-Whitney test, linear regression test, and one-way analysis of variance for statistical analysis. The chaotic dimension revealed that the fetus haddense and sparse states of brain activity, which fluctuated at a statistically significant level. The chaotic dimension and free energy were larger in the sparse state than in the dense state. The fluctuating free energy suggests consciousness seemed to exist in the fetus after 27weeks.

Unilateral alveolar cleft size on prenatal 2-D ultrasonography predicts cleft of the secondary palate in fetal unilateral cleft lip: A Pilot Study.

Prenatal diagnosis of cleft palate (CP) is challenging. The current study's objective was to investigate if prenatal alveolar cleft width is associated with the likelihood of a cleft of the secondary palate in unilateral cleft lip (CL). The authors reviewed 2D US images in fetuses with unilateral CL from 1/2012-2/2016. Images of the fetal face were obtained with a linear and/or curved probe in the axial and coronal planes. Measurements of the alveolar ridge gap were taken by the senior radiologist. Post-natal phenotype findings were compared with prenatal findings. Thirty patients with unilateral CL met inclusion criteria; average gestational age was 26.67 ± 5.11 weeks (range 20.71, 36.57 weeks). Ten fetuses were found to have an intact alveolar ridge by prenatal US; postnatal exam confirmed intact secondary palate in all. Small alveolar defects <4 mm were noted in 3 fetuses; postnatal examination documented CP in a single patient. CP was confirmed in 15 of the remaining 17 fetuses who had alveolar cleft width >4 mm. An alveolar defect ≥ 4 mm on prenatal US was associated with greater likelihood of a cleft of the secondary palate (c 2 (2, n=30) = 20.23, p<.001). In the setting of unilateral CL, prenatal US documentation of alveolar defects ≥4 mm are highly predictive of the presence of a cleft of the secondary palate. Conversely, an intact alveolar ridge is associated with an intact secondary palate.

Advances in Maternal–Fetal Imaging

Advances in Maternal–Fetal Imaging

Ultrasound and fetal magnetic resonance imaging: Clinical performance in the prenatal diagnosis of orofacial clefts and mandibular abnormalities

Cleft lip, with or without cleft palate, is the most common congenital craniofacial anomaly and the second most common birth defect worldwide. Micrognathia is a rare facial malformation characterized by small, underdeveloped mandible and frequently associated with retrognathia. Second- and third-trimester prenatal ultrasound is the standard modality for screening and identification of fetal orofacial abnormalities, with a detection rate in the low-risk population ranging from 0% to 73% for all types of cleft. The prenatal ultrasonography detection can also be performed during the first trimester of pregnancy. Given the potential limitations of obstetric ultrasound for examining the fetal face, such as suboptimal fetal position, shadowing from the surrounding bones, reduce amniotic fluid around the face, interposition of fetal limbs, umbilical cord and placenta, and maternal habitus/abdominal scars, the use of adjunct imaging modalities can enhance prenatal diagnosis of craniofacial anomalies in at-risk pregnancies. Fetal magnetic resonance imaging (MRI) is a potentially useful second-line investigation for the prenatal diagnosis of orofacial malformations with a pooled sensitivity of 97%. In this review, we discuss the role of ultrasound and fetal MRI in the prenatal assessment of abnormalities of the upper lip, palate, and mandible.

The Utility of the Ultrasound “Superimposed-Line” Sign at the Junction of the Vomer and Maxilla in First-Trimester Screening for Fetal Cleft Palate: A Case-Control Study

Introduction: The current retrospective case-control study evaluates the diagnostic value of screening for a fetal cleft palate by using the ultra-sound-based observation of the “superimposed-line” sign appearing at the junction of the vomer and maxilla in the first trimester of pregnancy. Methods: Retrospective analyses were performed of ultrasonographic images of nuchal translucency obtained during the first trimester of pregnancy (11–13⁺⁶ weeks) from 45 fetuses with a cleft palate later confirmed following parturition or induced labor (cases) and 4,500 normal fetuses confirmed after parturition (controls). Ultrasonographic features of the “superimposed-line” sign were observed and recorded, and between-group comparisons were performed. Results: The “superimposed-line” sign was absent in 39 cases (86.67%), including 4 (8.89%) with simple secondary hard palate cleft and 35 (77.78%) with secondary hard palate cleft complicated by a primary cleft palate. The “superimposed-line” sign was shown in 6 cases (13.33%), including 2 (4.44%) with a simple secondary soft palate cleft, 1 (2.22%) with a simple secondary bifid uvula, and 3 (6.67%) with a simple primary cleft palate. Among the 4,500 controls, 31 fetuses showed an absence of the “superimposed-line” sign (0.69%) and 4,469 showed the “superimposed-line” sign (99.31%). The between-group difference was significant (p < 0.05). The sensitivity, specificity, positive predictive value, and negative predictive values of the “superimposed-line” sign in the first trimester of pregnancy for predicting fetal cleft palate were 86.67% (39/45), 99.31% (4,469/4,500), 55.71% (39/70), and 99.86% (4,469/4,475), respectively. Conclusion: The “superimposed-line” sign did not appear in fetuses with secondary hard palate cleft and primary cleft palate only when a secondary hard palate cleft is present. The sign appeared in normal fetuses and those with a simple primary cleft palate, simple secondary soft palate cleft, or a simple secondary bifid uvula. Based on these results, we propose that the “superimposed-line” sign in the mid-sagittal plane of the fetal face in the first trimester of pregnancy (11–13⁺⁶ weeks) is an important tool in screening for fetal cleft palate, especially secondary hard palate cleft.

Artificial intelligence to understand fluctuation of fetal brain activity by recognizing facial expressions.

To examine whether artificial intelligence can achieve discoveries regarding fetal brain activity. In this observational study, the authors collected images of fetal faces using a four-dimensional ultrasound technique obtained from singleton pregnancies of outpatients in routine practice at 27 to 37 weeks of gestation between February 1 and December 31, 2021. The authors developed an artificial intelligence classifier to recognize seven facial expressions of fetuses, then applied it to video files of fetal facial images to generate the probabilities, as confidence scores, of each expression category. Discrete Fourier transform and chaotic analysis were used to investigate the scores. Mann-Whitney test, t test, variance test, and one-way analysis of variance were used for statistical analysis. Facial expression changes were observed in cycles averaging 66 to 73 s. The power spectrum showed that mouthing and neutral expressions were the most prevalent. There was a difference between categories for the spectrum (p=0.004). Two different states--dense and sparse--of confidence scores were discovered. The correlation dimension was 1.19 ± 0.22 and 1.33 ± 0.27 for dense and sparse, respectively (p=0.047). This method objectively and quantitatively demonstrated fetal brain activity and may provide insight into how the fetus spends its time in utero.

OP08.01: Development of a statistical model from 3D ultrasound to describe growth of the fetal face with gestation

OP08.01: Development of a statistical model from 3D ultrasound to describe growth of the fetal face with gestation

L’examen des oreilles en anténatal : quand, comment et pourquoi ?

Antenatal ear examination is an integral part of the thorough examination of the fetal face. The discovery of an anomaly, whether it is made by chance or during a complementary in-depth examination, leads the practitioner to determine its isolated or associated character, in order to characterise its possible belonging to a syndromic entity. In this context, the realization of genetic analysis more precise and wider allowing a return of the results in a time compatible with an evolutive pregnancy, gives to the geneticist a central role in the management of these couples. The main challenge lies in obtaining a set of concordant clinical and biological clues, enabling the genetic results identified to be interpreted correctly, the optimised functioning of the ultrasound practitioner – geneticist duo is therefore fundamental. This results in a complex information to deliver, in the fact that the clinical translation of an ear anomaly in antenatal can go from an isolated aesthetic anomaly to a genetic syndrome with neurodevelopmental disorder. The objective of this work is to describe, from a methodological analysis of antenatal ears, the accessible malformative entities, isolated or associated, and to discuss the problems in the need or not to propose their screening.

Toward deep observation: A systematic survey on artificial intelligence techniques to monitor fetus via ultrasound images

SummarySeveral reviews have been conducted regarding artificial intelligence (AI) techniques to improve pregnancy outcomes. But they are not focusing on ultrasound images. This survey aims to explore how AI can assist with fetal growth monitoring via ultrasound image. We reported our findings using the guidelines for PRISMA. We conducted a comprehensive search of eight bibliographic databases. Out of 1269 studies 107 are included. We found that 2D ultrasound images were more popular (88) than 3D and 4D ultrasound images (19). Classification is the most used method (42), followed by segmentation (31), classification integrated with segmentation (16) and other miscellaneous methods such as object-detection, regression, and reinforcement learning (18). The most common areas that gained traction within the pregnancy domain were the fetus head (43), fetus body (31), fetus heart (13), fetus abdomen (10), and the fetus face (10). This survey will promote the development of improved AI models for fetal clinical applications.

Development and Validation of a Deep Learning Model to Screen for Trisomy 21 During the First Trimester From Nuchal Ultrasonographic Images

Accurate screening of trisomy 21 in the first trimester can provide an early opportunity for decision-making regarding reproductive choices. To develop and validate a deep learning model for screening fetuses with trisomy 21 based on ultrasonographic images. This diagnostic study used data from all available cases and controls enrolled at 2 hospitals in China between January 2009 and September 2020. Two-dimensional images of the midsagittal plane of the fetal face in singleton pregnancies with gestational age more than 11 weeks and less than 14 weeks were examined. Observers were blinded to subjective fetus nuchal translucency (NT) marker measurements. A convolutional neural network was developed to construct a deep learning model. Data augmentation was applied to generate more data. Different groups were randomly selected as training and validation sets to assess the robustness of the deep learning model. The fetal NT was shown and measured. Each detection of trisomy 21 was confirmed by chorionic villus sampling or amniocentesis. Data were analyzed from March 1, 2021, to January 3, 2022. The primary outcome was detection of fetuses with trisomy 21. The receiver operating characteristic curve, metrics of accuracy, area under the curve (AUC), sensitivity, and specificity were used for model performance evaluation. A total of 822 case and control participants (mean [SD] age, 31.9 [4.6] years) were enrolled in the study, including 550 participants (mean [SD] age, 31.7 [4.7] years) in the training set and 272 participants (mean [SD] age, 32.3 [4.7] years) in the validation set. The deep learning model showed good performance for trisomy 21 screening in the training (AUC, 0.98; 95% CI, 0.97-0.99) and validation (AUC, 0.95; 95% CI, 0.93-0.98) sets. The deep learning model had better detective performance for fetuses with trisomy 21 than the model with NT marker and maternal age (training: AUC, 0.82; 95% CI, 0.77-0.86; validation: AUC, 0.73; 95% CI, 0.66-0.80). These findings suggest that this deep learning model accurately screened fetuses with trisomy 21, which indicates that the model is a potential tool to facilitate universal primary screening for trisomy 21.

Long-term neurodevelopmental outcome in children after antenatal intravenous immune globulin treatment in fetal and neonatal alloimmune thrombocytopenia

Children with fetal and neonatal alloimmune thrombocytopenia face increased risk of intracranial hemorrhage potentially leading to developmental impairment. To prevent intracranial hemorrhage, pregnant women with alloantibodies against fetal platelets are often treated with intravenous immunoglobulin. Intravenous immunoglobulin seems effective in vastly reducing the risk of fetal or neonatal bleeding complications. However, information on long-term neurodevelopment of these children is lacking. This study aimed to evaluate long-term neurodevelopmental outcome in children with fetal and neonatal alloimmune thrombocytopenia who were treated with intravenous immunoglobulin antenatally. An observational cohort study was performed, including children of mothers treated with intravenous immunoglobulin during pregnancy because a previous child was diagnosed with fetal and neonatal alloimmune thrombocytopenia. Children were invited for a follow-up assessment including standardized cognitive and neurologic tests. The parents were asked to complete a behavioral questionnaire and school performance reports. The primary outcome was severe neurodevelopmental impairment, defined as severe cognitive impairment (intelligence quotient <70), cerebral palsy with Gross Motor Function Classification System Level ≥3, bilateral blindness, and/or bilateral deafness (requiring amplification). The secondary outcome was mild to moderate neurodevelopmental impairment, defined as either mild to moderate cognitive impairment (intelligence quotient <85), cerebral palsy with Gross Motor Function Classification System Level ≤2, minor neurologic dysfunction, vision loss, and/or hearing loss. Between 2003 and 2017, 51 children were live-born after antenatal intravenous immunoglobulin treatment. One family moved abroad and was therefore not eligible for inclusion. In total, 82% (41/50) of the eligible cases were included for neurodevelopmental assessment at a median age of 9 years and 8 months. Severe neurodevelopmental impairment was not detected. The incidence of mild to moderate neurodevelopmental impairment was 14% (6/41; 95% confidence interval, 6%-29%). The children's mean cognitive score, behavioral scores, and academic achievement were not different from those observed in the Dutch norm groups. Neuroimaging was performed in 90% (37/41) of cases. Severe intracranial hemorrhage was diagnosed in 2 cases (5%), one antenatally before the start of intravenous immunoglobulin and the other case 1 day after birth. Both cases had a normal neurodevelopmental outcome. The risk of neurodevelopmental impairment in children whose mothers were treated for fetal and neonatal alloimmune thrombocytopenia with antenatal intravenous immunoglobulin is comparable to that reported in the general population.

Reconstruction of the fetus face from three-dimensional ultrasound using a newborn face statistical shape model

Background and objectiveThe fetal face is an essential source of information in the assessment of congenital malformations and neurological anomalies. Disturbance in early stages of development can lead to a wide range of effects, from subtle changes in facial and neurological features to characteristic facial shapes observed in craniofacial syndromes. Three-dimensional ultrasound (3D US) can provide more detailed information about the facial morphology of the fetus than the conventional 2D US, but its use for pre-natal diagnosis is challenging due to imaging noise, fetal movements, limited field-of-view, low soft-tissue contrast, and occlusions. MethodsIn this paper, we propose the use of a novel statistical morphable model of newborn faces, the BabyFM, for fetal face reconstruction from 3D US images. We test the feasibility of using newborn statistics to accurately reconstruct fetal faces by fitting the regularized morphable model to the noisy 3D US images. ResultsThe results indicate that the reconstructions are quite accurate in the central-face and less reliable in the lateral regions (mean point-to-surface error of 2.35 mm vs 4.86 mm). The algorithm is able to reconstruct the whole facial morphology of babies from US scans while handle adverse conditions (e.g. missing parts, noisy data). ConclusionsThe proposed algorithm has the potential to aid in-utero diagnosis for conditions that involve facial dysmorphology.