A novel artificial intelligence model for measuring fetal intracranial markers during the first trimester based on two-dimensional ultrasound image.

OBJECTIVE: To establish reference ranges of fetal intracranial markers during the first trimester and develop the first novel artificial intelligence (AI) model to measure key markers automatically. METHODS: This retrospective study used two-dimensional (2D) ultrasound images from 4233 singleton normal fetuses scanned at 11+0-13+6 weeks of gestation at the Affiliated Suzhou Hospital of Nanjing Medical University from January 2018 to July 2022. We analyzed 10 key markers in three important planes of the fetal head. Based on these, reference ranges of 10 fetal intracranial markers were established and an AI model was developed for automated marker measurement. AI and manual measurements were compared to evaluate differences, correlations, consistency, and time consumption based on mean error, Pearson correlation analysis, intraclass correlation coefficients (ICCs), and average measurement time. RESULTS: The results of AI and manual methods had strong consistency and correlation (all ICC values >0.75, all r values >0.75, and all P values <0.001). The average absolute error of both only ranged from 0.124 to 0.178 mm. AI achieved a 100% detection rate for abnormal cases. Additionally, the average measurement time of AI was only 0.49 s, which was more than 65 times faster than the manual measurement method. CONCLUSION: The present study first established the normal standard reference ranges of fetal intracranial markers based on a large Chinese population data set. Furthermore, the proposed AI model demonstrated its capability to measure multiple fetal intracranial markers automatically, serving as a highly effective tool to streamline sonographer tasks and mitigate manual measurement errors, which can be generalized to first-trimester scanning.

Automating the Human Action of First-Trimester Biometry Measurement from Real-World Freehand Ultrasound.

OBJECTIVE: Automated medical image analysis solutions should closely mimic complete human actions to be useful in clinical practice. However, more often an automated image analysis solution represents only part of a human task, which restricts its practical utility. In the case of ultrasound-based fetal biometry, an automated solution should ideally recognize key fetal structures in freehand video guidance, select a standard plane from a video stream and perform biometry. A complete automated solution should automate all three subactions. METHODS: In this article, we consider how to automate the complete human action of first-trimester biometry measurement from real-world freehand ultrasound. In the proposed hybrid convolutional neural network (CNN) architecture design, a classification regression-based guidance model detects and tracks fetal anatomical structures (using visual cues) in the ultrasound video. Several high-quality standard planes that contain the mid-sagittal view of the fetus are sampled at multiple time stamps (using a custom-designed confident-frame detector) based on the estimated probability values associated with predicted anatomical structures that define the biometry plane. Automated semantic segmentation is performed on the selected frames to extract fetal anatomical landmarks. A crown-rump length (CRL) estimate is calculated as the mean CRL from these multiple frames. RESULTS: Our fully automated method has a high correlation with clinical expert CRL measurement (Pearson's p = 0.92, R-squared [R2] = 0.84) and a low mean absolute error of 0.834 (weeks) for fetal age estimation on a test data set of 42 videos. CONCLUSION: A novel algorithm for standard plane detection employs a quality detection mechanism defined by clinical standards, ensuring precise biometric measurements.

Clinical implications of crown-rump length discordance at 11 to 14 weeks in dichorionic twins.

BACKGROUND: Crown-rump length discordance, defined as ≥10% discordance, has been investigated as an early sonographic marker of subsequent growth abnormalities and is associated with an increased risk of fetal loss in twin pregnancies. Previous studies have not investigated the prevalence of fetal aneuploidy or structural anomalies in twins with discordance or the independent association of crown-rump length discordance with adverse perinatal outcomes. Moreover, data are limited on cell-free DNA screening for aneuploidy in dichorionic twins with discordance. OBJECTIVE: This study aimed to evaluate whether crown-rump length discordance in dichorionic twins between 11 and 14 weeks of gestation is associated with a higher risk of aneuploidy, structural anomalies, or adverse perinatal outcomes and to assess the performance of cell-free DNA screening in dichorionic twin pregnancies with crown-rump length discordance. STUDY DESIGN: This was a secondary analysis of a multicenter retrospective cohort study that evaluated the performance of cell-free DNA screening for the common trisomies in twin pregnancies from December 2011 to February 2020. For this secondary analysis, we included live dichorionic pregnancies with crown-rump length measurements between 11 and 14 weeks of gestation. First, we compared twin pregnancies with discordant crown-rump lengths with twin pregnancies with concordant crown-rump lengths and analyzed the prevalence of aneuploidy and fetal structural anomalies in either twin. Second, we compared the prevalence of a composite adverse perinatal outcome, which included preterm birth at <34 weeks of gestation, hypertensive disorders of pregnancy, stillbirth or miscarriage, small-for-gestational-age birthweight, and birthweight discordance. Moreover, we assessed the performance of cell-free DNA screening in pregnancies with and without crown-rump length discordance. Outcomes were compared with multivariable regression to adjust for confounders. RESULTS: Of 987 dichorionic twins, 142 (14%) had crown-rump length discordance. The prevalence of aneuploidy was higher in twins with crown-rump length discordance than in twins with concordance (9.9% vs 3.9%, respectively; adjusted relative risk, 2.7; 95% confidence interval, 1.4-4.9). Similarly, structural anomalies (adjusted relative risk, 2.5; 95% confidence interval, 1.4-4.4]) and composite adverse perinatal outcomes (adjusted relative risk, 1.2; 95% confidence interval, 1.04-1.3) were significantly higher in twins with discordance. A stratified analysis demonstrated that even without other ultrasound markers, there were increased risks of aneuploidy (adjusted relative risk, 3.5; 95% confidence interval, 1.5-8.4) and structural anomalies (adjusted relative risk, 2.7; 95% confidence interval, 1.5-4.8) in twins with CRL discordance. Cell-free DNA screening had high negative predictive values for trisomy 21, trisomy 18, and trisomy 13, regardless of crown-rump length discordance, with 1 false-negative for trisomy 21 in a twin pregnancy with discordance. CONCLUSION: Crown-rump length discordance in dichorionic twins is associated with an increased risk of aneuploidy, structural anomalies, and adverse perinatal outcomes, even without other sonographic abnormalities. Cell-free DNA screening demonstrated high sensitivity and negative predictive values irrespective of crown-rump length discordance; however, 1 false-negative result illustrated that there is a role for diagnostic testing. These data may prove useful in identifying twin pregnancies that may benefit from increased screening and surveillance and are not ascertained by other early sonographic markers.

Megacystis in the First Trimester as an Unreported Sonographic Finding of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Confirmed by Whole-exome Sequencing.

A pregnant woman was revealed to have fetal univentricular heart and megacystis by a routine first-trimester ultrasound. Chorionic villus sampling with the use of karyotyping and microarray found no causative etiologies. A further investigation with whole-exome sequencing (WES) demonstrated a FOXF1 variant. Autopsy confirmed the prenatal findings, and a histological study of the lungs showed the characteristic features of alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). This study indicates that although ultrasound itself has no ability of the identification of pulmonary histological malformations associated with ACDMPV, the early markers of univentricular heart and megacystis might alert clinicians to consider this genetic disorder which is facilitated considerably by the increasingly used WES in prenatal diagnosis.

Locating Multiple Standard Planes in First-Trimester Ultrasound Videos via the Detection and Scoring of Key Anatomical Structures.

OBJECTIVE: This study was aimed at developing a first-trimester standard plane detection (FTSPD) system that can automatically locate nine standard planes in ultrasound videos and investigating its utility in clinical practice. METHODS: The FTSPD system, based on the YOLOv3 network, was developed to detect structures and evaluate the quality of plane images by using a pre-defined scoring system. A total of 220 videos from two different ultrasound scanners were collected to compare detection performance between our FTSPD system and sonographers with different levels of experience. The quality of the detected standard planes was quantitatively rated by an expert according to a scoring protocol. Kolmogorov-Smirnov analysis was used to compare the distributions of scores across all nine standard planes. RESULTS: The expert-rated scores indicated that the quality of the standard planes detected by the FTSPD system was on par with that of the planes detected by senior sonographers. There were no significant differences in the distributions of the scores across all nine standard planes. The FTSPD system performed significantly better than junior sonographers in five standard plane types. CONCLUSION: The results of this study suggest that our FTSPD system has significant potential for detecting standard planes in first-trimester ultrasound screening, which may help to improve the accuracy of fetal ultrasound screening and facilitate early diagnosis of abnormalities. The quality of the standard planes selected by junior sonographers can be significantly improved with the assistance of our FTSPD system.

First-trimester ventriculomegaly in fetuses with callosal agenesis: Cause or association?

The sonographic findings in four fetuses presenting with ventriculomegaly at first-trimester ultrasound that were subsequently diagnosed as having agenesis of the corpus callosum (ACC) are described. The diagnosis of early ventriculomegaly was suspected subjectively by identification of increased cerebrospinal fluid within the lateral ventricles and confirmed by measuring choroid plexus-to-lateral ventricle length and area ratios. Subsequent scans revealed complete ACC in two cases and partial ACC in the other two. This report adds to the increasing evidence suggesting that first-trimester ventriculomegaly is a strong sonographic marker of underlying brain anomalies, including less evident malformations such as ACC. Detailed second-trimester fetal neurosonography in those women continuing their pregnancies should be performed.

Basic sonographic examination of the fetal brain at 11-13 weeks' gestation: Rationale for a simple and reliable four-step technique.

The widespread incorporation of first-trimester scanning between 11 and 13 weeks' gestation has shifted from the screening of chromosomal abnormalities, mainly by measuring nuchal translucency thickness and visualization of the nasal bone, to a more detailed study of the fetal anatomy leading to early detection of several structural congenital anomalies. This goal can be improved by the routine and focused sonographic assessment of specific anatomic planes and the identification of distinctive landmarks that can help disclosing a particular, non-evident condition. In this article we present the basis for a basic, early examination of the fetal brain during screening using a four-step technique, which can be readily incorporated during the first-trimester scan. The technique includes the focused visualization of the cranial contour, choroid plexuses of the lateral ventricles and midline, aqueduct of Sylvius, brainstem, fourth ventricle, and the choroid plexus of the fourth ventricle. The rationale for this approach is presented and discussed.

Adducted Thumb in the First Trimester of Pregnancy: An Early Clue to Prenatal Diagnosis of L1 Syndrome.

A pregnant woman was revealed to have an unusual position of the fetal hand by a routine 12-week ultrasound. Bilateral adducted thumbs and a male phenotype were confirmed by another ultrasound at 14 weeks' gestation. A structural survey at 18 weeks revealed fetal hydrocephalus with severe bilateral ventriculomegaly. The pregnancy was terminated, and postnatal examination with trio exome sequencing detected a hemizygous deletion (1,511 bp in size) variant of L1CAM gene in the fetus, inherited from the mother. The fetus was diagnosed as L1 syndrome (X-linked hydrocephalus). A family study found that this was a familial mutant allele. This study demonstrates that fetal hand abnormalities can be identified in the first trimester. Adducted thumbs might indicate the maldevelopment of the fetal brain, and therefore, examination of fetal hands and fingers should be integrated into fetal anomaly scans.

Síndrome HELLP temprano: reporte de caso / Early HELLP syndrome: a case report

Resumen ANTECEDENTES: El síndrome HELLP es una complicación severa de la preeclampsia, potencialmente mortal, caracterizada por hemólisis, enzimas hepáticas elevadas y bajo recuento de plaquetas. La prevalecia de este síndrome es de, aproximadamente, 0.5 al 0.9% de los embarazos y del 10 al 20% de los embarazos complicados por preeclampsia con criterios de severidad. CASO CLÍNICO: Paciente de 25 años, originaria de Lima, Perú, sin antecedentes personales ni familiares de interés. Antecedentes ginecoobstétricos: embarazo durante la adolescencia que finalizó por cesárea debido a preeclampsia con criterios de severidad a las 30 semanas que ameritó cuidados intensivos, con un recién nacido de 1170 gramos, que se ha desarrollado con aparente normalidad. El embarazo actual de 22 semanas, determinado por ecografía del primer trimestre, sin registro de controles prenatales. Con base en los reportes de laboratorio se estableció el diagnóstico de preeclampsia con criterios de severidad complicada y síndrome HELLP. Ante la evolución rápida y tórpida de la enfermedad se decidió finalizar el embarazo mediante cesárea, previa transfusión de una aféresis de plaquetas. El estudio anatomopatológico reportó: placenta con maduración vellosa acelerada, incremento de fibrina perivellosa y focos de infarto antiguo. CONCLUSIONES: El síndrome HELLP es una complicación grave del embarazo, con elevada morbilidad y mortalidad materno-perinatal; sobre todo si éste se inicia en semanas tempranas de la gestación, por debajo del nivel de viabilidad del feto; de ahí la necesidad del diagnóstico oportuno y el tratamiento individualizado.

Abstract BACKGROUND: HELLP syndrome is a severe, life-threatening complication of pre-eclampsia characterized by hemolysis, elevated liver enzymes and low platelet count. The prevalence of this syndrome is approximately 0.5-0.9% of pregnancies and 10-20% of pregnancies complicated by severe pre-eclampsia. CLINICAL CASE: 25-year-old female patient, originally from Lima, Peru, with no personal or family history. Obstetric and gynecological history: adolescent pregnancy terminated by caesarean section due to pre-eclampsia with severe criteria at 30 weeks, requiring intensive care, with a newborn weighing 1170 grams who has developed with apparent normality. The current pregnancy is 22 weeks, determined by first trimester ultrasound, with no record of antenatal checks. Based on laboratory reports, a diagnosis of pre-eclampsia with criteria of complicated severity and HELLP syndrome was established. Given the rapid and torpid evolution of the disease, it was decided to terminate the pregnancy by caesarean section after transfusion of platelet apheresis. Anatomopathological examination revealed: placenta with accelerated villous maturation, increased perivillous fibrin and foci of old infarction. CONCLUSIONS: HELLP syndrome is a serious complication of pregnancy with high maternal and perinatal morbidity and mortality, especially when it occurs early in pregnancy.

Sonographic diagnosis of an interstitial pregnancy in an asymptomatic patient at 7 weeks' gestation.

An interstitial pregnancy is an ectopic pregnancy located within the proximal intramural segment of the Fallopian tube traversing the myometrium. This type of ectopic pregnancy is relatively rare, occurring in approximately 1%-3% of all ectopic pregnancies. Given the myometrial mantle surrounding the gestational sac, which is considerably thicker than in other tubal pregnancies, patients with interstitial pregnancies classically manifest symptoms later in gestation. Thus, there is an increased risk of life-threatening intraperitoneal hemorrhage upon rupture of the myometrium encompassing the pregnancy. We present an unusual case of early sonographic diagnosis of an interstitial pregnancy in an asymptomatic patient at 7 and 3/7 weeks' gestation, discuss predisposing factors, hallmarks of sonographic diagnosis, and review the literature regarding available clinical management modalities. With the increasing application of point of care ultrasound (POCUS) by emergency room physicians and other providers in outpatient facilities, our case emphasizes both the importance of correct sonographic identification of interstitial pregnancy and the clinical importance of uniform early first-trimester sonography, preferably no later than 7-8 weeks' gestation.

The impact of high-frequency linear transducer on the accuracy of pelvic ultrasound in early pregnancy pelvic pain and bleeding.

INTRODUCTION: The primary concern of emergency physicians (EPs) in symptomatic patients in their early pregnancy is to rule out ectopic pregnancy by identifying a definite intrauterine pregnancy (IUP). Then an assessment of viability is required for the IUPs. Although transvaginal ultrasound (TVUS) stands as the best modality for these patients, it is not available in most emergency settings. This study aimed to investigate the effects of high-frequency linear transducers (HFLT) on the accuracy of point-of-care ultrasound (POCUS) for detection of IUP and the agreement between EPs and obstetricians for patients' diagnosis. METHOD: A convenience sample of pregnant patients who presented to the emergency department (ED) with vaginal bleeding and abdominopelvic pain was included. The characteristics of diagnostic tests of transabdominal POCUS performed by EPs were compared to TVUS. RESULTS: The study population was finalized as 143 patients. For the definite IUP, the diagnostic accuracy of POCUS was 93.0%, with a sensitivity of 89.0%, a specificity of 100%, compared to an accuracy of 97.9% for POCUS plus HFLT with a sensitivity of 96.7%, a specificity of 100%. For the identification of fetal cardiac activity (FCA), utilizing HFLT improved the diagnostic accuracy to 97.9% (from 94.4%) and sensitivity to 95.5% (from 88.1%). In addition, the agreement between the EPs and obstetricians concerning the classification of ED diagnosis was excellent (agreement: 96.5%, kappa: 0.943, p < 0.0001). CONCLUSION: POCUS plus HFLT performed by EPs in evaluating symptomatic patients in their first-trimester pregnancy improves the accuracy to a non-inferior level compared to TVUS performed by obstetricians. Hence, EPs can securely rely on POCUS to confirm IUP and FCA. However, they should be cautious about using it as a rule-out tool. Moreover, HFLT use could enhance the accuracy of POCUS in viability assessment as an alternative to TVUS.

Low first trimester maternal serum PAPP-A concentrations in women with non-cavity-distorting intramural uterine fibroids.

OBJECTIVE: Reliable aneuploidy risk estimation in first trimester is prominently interconnected with accurate assessment of maternal serum biomarkers. Some maternal factors like insulin-dependent diabetes, weight, and rhesus status are known to alter levels of these biomarkers. Adjustment of biomarker values for specific factor is crucial to avoid excessive invasive procedures or missed diagnoses. We aimed to investigate the effects of noncavity distorting intramural uterine fibroids on first trimester aneuploidy screening test maternal serum biomarkers. METHODS: Pregnant women who underwent first trimester aneuploidy screening test in a single tertiary center between 2011 and 2020 were retrospectively assessed. One hundred ninety-eight women were found to have at least one noncavity distorting intramural uterine leiomyoma (Figo type 3-6) of at least 2 cm diameter and remaining women were assigned as controls. First trimester aneuploidy screening test parameters were compared. RESULTS: Pregnancy associated plasma protein-A (PAPP-A) MoMs were found significantly lower in leiomyoma group in comparison to control group (1.19 ± 0.60 MoM vs. 1.40 ± 0.73 MoM, p = 0.002). PAPP-A MoMs in women with leiomyomas larger than 5.5 cm were significantly lower in comparison to both control group and women with ≤5.5 cm leiomyomas (0.82 ± 0.376 vs. 1.40 ± 0.73, p < 0.001; 0.82 ± 0.376 vs. 1.33 ± 0.61 p < 0.001, respectively). PAPP-A MoM and size of leiomyoma were found inversely correlated when fibroid size exceeds 5.5 cm (r = -0.467, p < 0.001). CONCLUSION: Noncavity distorting intramural uterine leiomyomas >5.5 cm are associated with low first trimester PAPP-A MoMs (<0.5). PAPP-A concentrations are inversely correlated with fibroid size in women with >5.5 cm intramural uterine leiomyomas. Fibroids ≤5.5 cm are not associated with alterations in first trimester aneuploidy screening test parameters.

Pregnancy and perinatal outcomes in pregnancy with diagnosis of chorionic bump on first-trimester sonography: a systematic review and meta-analysis.

OBJECTIVE: To assess the relationship between the presence of the sonographic finding of chorionic bump (CB) during first trimester and miscarriage rate or other perinatal outcomes. METHODS: PubMed, Medline, Embase, Cinahl and Clinicaltrials.gov databases, from inception to April 8, 2021 were explored utilizing combinations of the relevant medical subject heading (MeSH) terms, key words, and word variants for "CB" and "pregnancy." Prospective and retrospective case-control studies were eligible for inclusion. Odds ratios (ORs) comparing obstetrical outcomes among pregnancies with CB and normal pregnancies were determined with 95% confidence intervals (CI) using random-effects models. Primary outcome of interest was miscarriage rate. Secondary outcomes were: alive newborns (ANB) rate, adverse pregnancy outcomes (APO) and vaginal bleeding. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale. RESULTS: Five studies including 173 pregnant women with CB (study group) and 1,263 pregnant women without CB (control group) were included. Pregnancies affected by CB resulted to be associated with a significantly higher miscarriage rate (43.3% vs 20.7%; OR 2.95 95% CI 2.02-4.31, p < .00001), and conversely with a significantly lower rate of ANB (60.3% vs 82%; OR 0.35 95% CI 0.20-0.63, p = .0004). In addition, the risk of APO was around three-fold higher in the study group (52.2% vs 4.12%; OR 2.98 95% CI 1.04-8.51, p = .04), while the rate of vaginal bleeding was higher in the study group, without reaching a statistical significance (48% vs 16.4%; OR 2.21 95% CI 0.64-7.65 p = .21). DISCUSSION: The presence of CB at first trimester ultrasound significantly increases the risk of miscarriage and APO, and intact the rate of ANB. This article is protected by copyright. All rights reserved. Key message: The presence of CB on early first trimester ultrasound increases three-fold the risk of miscarriage and adverse pregnancy outcomes and reduces the rate of alive newborns. It is important to consider CB as an ultrasound marker that requires a close surveillance throughout pregnancy to prevent long-term complications and provide adequate counseling to the patient.

Effect of Exogenous Progesterone on Fetal Nuchal Translucency: An Observational Study.

Introduction Nuchal translucency is a reliable first trimester screening test for fetal structural and chromosomal defects. Neonates with increased nuchal thickness are at greater risk for anomalies. Exogenous progesterone supplementation may affect nuchal translucency and thus the first trimester anomaly screening. We aimed to study if there was a difference in nuchal thickness between women receiving progesterone in the first trimester compared to those who were not supplemented with progesterone. Material and methods Forty-seven women with documented progesterone intake in the first trimester for at least 10 continuous days before the day of the nuchal translucency scan served as the study group compared to 47 other women who did not receive progesterone. Nuchal translucency was measured between 11 and 13 weeks and six days of gestation. Results The mean nuchal translucency increased with increasing gestation in both groups. Maximum mean nuchal translucency was greatest in the age group 18-20 years (1.35 + 0.1 millimeters) in women receiving progesterone compared to 36-40 years (1.65 + 0.49 millimeters) in controls. The mean nuchal translucency in women receiving progesterone was 1.15 + 0.26 millimeters, and in those that did not receive progesterone, it was 1.23 + 0.35 millimeters (p = 0.314). Conclusions Nuchal translucency increased with increasing gestation in both groups, irrespective of progesterone supplementation. There was no significant difference in mean nuchal translucency in women supplemented with progesterone compared to those that did not receive progesterone in the first trimester.

Low torcular Herophili position and large brainstem-tentorium angle in fetuses with open spinal dysraphism at 11-13 weeks' gestation.

OBJECTIVE: To evaluate whether in fetuses with open spina bifida (OSB) the tentorium can be seen to be displaced downwards and vertically oriented by the time of the 11-13-week scan and whether this is reflected in an alteration of the brainstem-tentorium (BST) angle. METHODS: The study population was recruited between 2015 and 2020 from three fetal medicine referral centers and comprised a control group and a study group of pregnancies with OSB. The control group was recruited prospectively and included singleton pregnancies with a normal sonographic examination after first-trimester combined screening for chromosomal abnormalities and normal outcome. The study group was selected retrospectively and included all cases with OSB between 2015 and 2020. All cases underwent detailed ultrasound assessment at 11 + 0 to 13 + 6 weeks' gestation. The position of the torcular Herophili (TH) was identified in the midsagittal view of the fetal brain with the use of color Doppler and was considered as a proxy for the insertion of the tentorium on the fetal skull. The BST angle was calculated in the same view and was compared between the two groups. RESULTS: Sixty normal fetuses were included in the control group and 22 fetuses with OSB in the study group. In both groups, the BST angle was found to be independent of gestational age or crown-rump length (P = 0.8815, R2 = 0.0003861 in the controls, and P = 0.2665, R2 = 0.00978 in the OSB group). The mean BST angle was 48.7 ± 7.8° in controls and 88.1 ± 1.18°, i.e. close to 90°, in fetuses with OSB. Comparison of BST-angle measurements between the control group and cases with OSB showed a statistically significant difference (P = 0.0153). In all fetuses with OSB, the downward displacement of the TH and tentorium was clearly visible at the 11-13-week scan. CONCLUSIONS: In fetuses with OSB, the BST angle is significantly larger than in normal controls, with the tentorium being almost perpendicular to the brainstem. This sign confirms the inferior displacement of the tentorium cerebelli with respect to its normal insertion on the occipital clivus as early as the first trimester of pregnancy and is useful in the diagnosis of Chiari-II malformation at this early stage. In fetuses with OSB, the low position of the tentorium and TH is clearly visible, even subjectively, at the 11-13-week scan. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

FundAl Retroflexion (FAR) Angle is a Novel Sonographic Marker Associated With Cesarean Scar Pregnancies in the First Trimester: A Case-Control Study.

OBJECTIVES: Early diagnosis of Cesarean scar pregnancies (CSP) remains difficult. This study describes a novel sonographic marker, the FundAl Retroflexion (FAR) angle, that may be used in the first trimester. The objective of the study is to compare the FAR angle between CSP and normal pregnancies. METHODS: For this case-control study, we reviewed images from our institution's database that were acquired from January 2016 to December 2019. All cases of CSP and randomly selected controls, defined as patients with history of Cesarean delivery and normal implantation, that underwent ultrasound evaluation at <14 weeks were included. The FAR angle, defined as the acute angle created between the endometrial echo and cervical canal, was measured. The mean FAR angle was then compared between the two groups and a receiver operating characteristic (ROC) curve was generated. RESULTS: We identified 15 cases of CSP during the study period and were able to measure the FAR angle in 14 of the cases. The mean FAR angle was larger in CSP than in normal control pregnancies (45° versus 27°, respectively, P < 0.001). Using an ROC curve, a FAR angle cut off of 40° maximizes the ability to distinguish between CSP from normal pregnancies. CONCLUSIONS: The FAR angle provides an easily obtainable and numerical measurement. CSP have larger FAR angle compared to normal controls with a distinguishing cut off of 40°. Larger studies are needed to determine if using the FAR angle can improve first trimester diagnosis for CSP.

Transvaginal Color Mapping Ultrasound in the First Trimester Predicts Placenta Accreta Spectrum: A Retrospective Cohort Study.

OBJECTIVES: Ultrasound (US) prediction of placenta accreta spectrum (PAS) in the first trimester may be aided by postprocessing mechanisms employing color pixel quantification near the bladder-uterine serosal interface. Our objective was to create a postprocessing algorithm of color images to identify findings associated with PAS and compare quantification to sonologist impression in prospectively obtained cine US images. METHODS: Transverse transvaginal (TV) US color cines obtained in the first trimester as part of a prospective study were reviewed. Investigators blinded to clinical outcomes reviewed anonymized cines that were archived and labeled the bladder-uterine serosal interface. Color pixels within 2 cm of the defined bladder-uterine serosal interface were ascertained using a Python-based plugin in the Horos open-source DICOM viewer. A sonologist classified the findings as suspicious for invasion, indeterminate, or normal. Statistical analysis was performed using Wilcoxon rank-sum test, Cochran-Armitage trend test, and calculation of receiver-operating characteristic (ROC) curves. RESULTS: Fifty-four studies met inclusion criteria. Of those, six (11%) required hysterectomy with pathologic confirmation of PAS. Women requiring hysterectomy had a significantly higher color Doppler pixel area than those not requiring hysterectomy (P = .0205). A significant trend was identified in the sonologist impression of invasion (P = .0003). ROC's comparing sonologist impression to Doppler color imaging areas were comparable (P = .054). CONCLUSIONS: Color Doppler mapping in the first trimester showed an increase in color pixel area near the bladder-uterine serosal interface in women requiring cesarean hysterectomy with histologically confirmed PAS at time of delivery, compared to women without hysterectomy or pathologic evidence of PAS.

Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion.

First trimester ultrasound screening is an essential fetal examination performed generally at 11-13 weeks of gestation (WG). However, it does not allow for an accurate description of all fetal organs, partly due to their development in progress. Meanwhile, increased nuchal translucency (INT) is a widely used marker known to be associated with chromosomal deleterious rearrangements. We report on a 14 WG fetus with an association of INT and univentricular congenital heart malformation (CHM) leading to chorionic villous sampling (CVS). Cytogenetic investigations performed using array-Comparative Genomic Hybridization (CGH) and fluorescence in situ hybridization (FISH) demonstrated a 1.17 Mb deletion in 16q24.1 encompassing FOXF1 arisen de novo on maternal inherited chromosome. Fetopathological study confirmed CHM with hypoplastic left heart syndrome (HLHS) associating aortic atresia, mitral stenosis, and left ventricular hypoplasia and revealed in addition specific lung lesions corresponding to alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). This is so far the first case of first trimester prenatal diagnosis of ACDMPV due to the deletion of FOXF1 gene. An interpretation of the complex genomic data generated by ultrasound markers is facilitated considerably by the genotype-phenotype correlations on fetopathological examination.

Postmortem 9.4-T MRI for Fetuses With Congenital Heart Defects Diagnosed in the First Trimester.

OBJECTIVE: To evaluate the feasibility of 9. 4-T postmortem MRI (pm-MRI) for assessment of major congenital heart defects (CHD) cases terminated in the early stage of gestation. METHODS: Fetuses with CHD detected by the detailed first-trimester ultrasound scan and terminated before 18 gestational weeks were recruited between January 2018 and June 2020. All fetuses were offered 9.4-T pm-MRI examinations and those terminated over 13+6 weeks were offered conventional autopsies simultaneously. Findings of pm-MRI were compared with those of conventional autopsy and prenatal ultrasound. RESULTS: A total of 19 fetuses with major CHD were analyzed, including 6 cases of the atrioventricular septal defect, 5 cases of Tetralogy of Fallot, 3 cases of hypoplastic left heart syndrome, 1 case of tricuspid atresia, 1 case of transposition of the great arteries, 1 case of severe tricuspid regurgitation, and 2 cases of complex CHD. Pm-MRI had concordant findings in 73.7% (14/19) cases, discordant findings in 15.8% (3/19) cases, and additional findings in 10.5% (2/19) cases when compared with prenatal ultrasound. Pm-MRI findings were concordant with autopsy in all 8 CHD cases terminated over 13+6 weeks. CONCLUSION: It is feasible to exhibit the structure of fetal heart terminated in the first trimester clearly on 9.4-T pm-MRI with an optimized scanning protocol. High-field pm-MRI could provide medical imaging information of CHD for those terminated in the early stage of gestation, especially for those limited by conventional autopsy.

Accuracy of qualitative and quantitative cranial ultrasonographic markers in first-trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta-analysis.

BACKGROUND: The significant number of qualitative and quantitative ultrasound markers described for first-trimester screening of open spina bifida (OSB) and other posterior brain defects (oPBD) has resulted in their complex implementation and interpretation for a widespread screening and in a lack of consensus regarding diagnostic accuracy. OBJECTIVES: To assess and compare the accuracy of qualitative and quantitative cranial sonographic markers at 11-14 weeks of gestation for the detection of OSB and oPBD. SEARCH STRATEGY: A systematic literature search was performed in MEDLINE and COCHRANE from 2009 to April 2020. SELECTION CRITERIA: Studies assessing the diagnostic accuracy of quantitative and/or qualitative ultrasound signs to predict OSB and oPBD were included. Cohort studies and case-control studies were also considered. DATA COLLECTION AND ANALYSIS: Two reviewers independently extracted data and assessed the risk of bias. The overall pooled estimate and a summary receiver operating characteristic curve was estimated for each subgroup (qualitative and quantitative assessment). MAIN RESULTS: Twenty-three studies were included in our meta-analysis. The pooled sensitivity and specificity for qualitative assessment were 76.5% and 99.6%, and for quantitative assessment were 84.5% and 96.3%, respectively; specificity for the qualitative ultrasound signs was significantly higher (P = 0.001). The overall sensitivity of cranial sonographic markers for the screening of oPBD was 76.7% and specificity was 97.5%. CONCLUSIONS: The qualitative approach demonstrated greater specificity, so this would appear to be more appropriate for daily screening, as a first-line tool, whereas the quantitative approach should be reserved for expert ultrasound. TWEETABLE ABSTRACT: This study highlights the relevance of first-trimester qualitative ultrasound signs in the screening of open spina bifida.