Prediction of large-for-gestational-age at birth using fetal biometry in type 1 and type 2 diabetes: A retrospective cohort study.

OBJECTIVE: To compare ultrasound-assessed fetal head circumference (HC), abdominal circumference (AC), HC/AC ratio, and estimated fetal weight (EFW) in prediction of large-for-gestational-age (LGA) at birth in pregnancies affected by type 1 (T1DM) and type 2 (T2DM) diabetes. METHODS: This retrospective cohort study included all women with T1DM and T2DM giving birth to singletons between 2010 and 2019 at Aalborg University Hospital, Denmark. Ultrasound scans were performed at 16, 20, 28 and 34 weeks of pregnancy. LGA was defined as birth weight deviation of 15% or greater from the expected for gestational age (≥90th centile). Prediction of LGA was assessed by logistic regression adjusted for maternal characteristics and glycated hemoglobin (HbA1c) and area under the receiver operating characteristics curve (AUC). RESULTS: Among 180 T1DM pregnancies, 118 (66%) had an LGA neonate at birth. At 28 weeks of pregnancy, they were predicted with AUCHC/AC = 0.67, AUCAC = 0.85, and AUCEFW = 0.86. The multivariate analysis did not improve the predictive performance of the HC/AC ratio or AC. Among 87 T2DM pregnancies, 36 (41%) had an LGA neonate at birth. At 28 weeks, they were predicted with AUCHC/AC = 0.73, AUCAC = 0.83, and AUCEFW = 0.87. In T2DM, the multivariate analysis significantly improved the predictive performance for both HC/AC ratio and AC from 20 weeks of pregnancy. CONCLUSION: In T1DM and T2DM pregnancies, LGA is characterized by a general fetal overgrowth including both AC and HC. Therefore, AC and EFW perform better than the HC/AC ratio in the prediction of LGA. In T2DM, as opposed to T1DM, the predictive performance was improved by the inclusion of maternal characteristics and HbA1c in the analysis.

Manejo expectante de amniocele en paciente con espectro de placenta accreta: reporte de caso

Introducción: El amniocele es una hernia del saco amniótico a través de un defecto en la pared del útero, el cual puede deberse a ruptura uterina, secundario a daños preexistentes, anomalías uterinas o en un útero sin cicatrices. Caso clínico: Presentamos el caso de una paciente de 37 años, con antecedente de dos partos por cesárea, a quien en la semana 25,5 de embarazo se le diagnostica por ecografía amniocele en la pared anterior de útero contenido por la vejiga, además de signos ecográficos de acretismo placentario. La posterior realización de resonancia magnética confirma el diagnóstico. Se realiza manejo expectante con estancia continua intrahospitalaria estricta. Resolución obstétrica a las 34 semanas por cesárea, con extracción fetal por fondo uterino sin complicaciones, con posterior realización de histerectomía con placenta in situ. Conclusiones: Este reporte de caso ilustra la importancia de la identificación temprana de esta condición por ser una complicación infrecuente, pero de grave pronóstico fetomaterno en ausencia de atención inmediata.

Introduction: Amniocele is a hernia of the amniotic sac through a defect in the uterine wall, which can be caused by uterine rupture secondary to preexisting damage, uterine anomalies, or a scarless uterus. Case report: We present a case of a 37-year-old patient with a history of two previous cesarean deliveries. At 25.5 weeks of gestation, the diagnosis of amniocele in the anterior uterine wall, contained by the bladder, along with ultrasound signs of placenta accreta, was confirmed through ultrasound. Subsequent magnetic resonance imaging further confirmed the diagnosis. Expectant management with strict continuous intrahospital stay was implemented. Obstetric resolution was achieved at 34 weeks through cesarean delivery, with uncomplicated fetal extraction through the uterine fundus. Subsequently, a hysterectomy was performed with the placenta left in situ. Conclusions: This case report illustrates the importance of early identification of this condition due to its infrequent but serious feto-maternal prognosis in the absence of immediate attention.

Optimizing prenatal diagnosis and referral of classic bladder exstrophy: Lessons from a single-institution experience.

INTRODUCTION: Classic bladder exstrophy (CBE) is a malformation of the genitourinary system that occurs due to failure of abdominal wall closure. Unlike other malformations of similar incidence, prenatal diagnosis of CBE relies on suggested, rather than formal, diagnostic criteria. OBJECTIVE: This report describes prenatal diagnosis of CBE in the largest single-institutional cohort to date and delineates key sonographic findings and protocols for specialist referral. MATERIALS AND METHODS: A single-institutional database was reviewed for CBE patients born since 2000. Data on screening ultrasound use, gestational age at ultrasound, and abnormal findings were extracted. Where possible, time of prenatal diagnosis (pre- or postnatal and gestational age), ultrasound findings and other imaging data, specialist referral, institution of birth and closure, and outcome of primary closure attempt were compared. RESULTS: Of 557 patients born with CBE between 2000 and 2022, 284 met inclusion criteria and complete data were available for 280 (229 born domestically and 51 born internationally) who were included for analysis. Abnormal sonography suggestive of CBE was present for 48% (n = 134) of patients, for whom absent bladder was the most common abnormal finding (76% [102/134]). Of domestic patients, 46% (n = 106) were diagnosed prenatally at a median gestational age of 22 weeks (inter-quartile range [IQR]: 20-24), and 14% (n = 32) underwent confirmatory fetal magnetic resonance imaging. Of domestic patients with abnormal prenatal findings, 75% (n = 80/106) consulted with maternal-fetal medicine and 58% (n = 62/106) consulted with pediatric urology. On univariate analysis, prenatal diagnosis was positively associated with primary repair at Association for the Bladder Exstrophy Community-recognized centers of excellence (54% vs. 38%, p = 0.02) and negatively associated with osteotomy at primary closure (41% vs 59%, p = 0.003) but not success of primary closure (74% vs. 82%, p = 0.07). DISCUSSION: Rates of prenatal diagnosis in this cohort were similar to previous reports of smaller cohorts. Diagnosis allows for comprehensive pre- and postnatal follow-up with a pediatric urologist, with implications on birth planning and decisions on termination of pregnancy. Because of the previously-reported association between exstrophy and in vitro fertilization, these pregnancies should undergo detailed sonography. Any nonvisualization of the fetal bladder should prompt a detailed exam, and any finding characteristic of bladder exstrophy warrants referral to pediatric urology. CONCLUSIONS: Although CBE is a rare disorder, it is underdiagnosed during pregnancy. Sonographers and obstetricians should be aware of characteristic findings and best practices following diagnosis. Early referral to pediatric urology and maternal-fetal medicine is important for counseling and postnatal planning.

Fetal Thymus Size at 19-22 Weeks of Gestation: A Possible Marker for the Prediction of Low Birth Weight?

INTRODUCTION: The purpose was to compare thymus size measured during second trimester screening of fetuses who were subsequently small for gestational age at birth (weight below 10th percentile, SGA group) with fetuses with normal birth weight (control group). We hypothesized that measuring the fetal thymic-thoracic ratio (TT-ratio) might help predict low birth weight. METHODS: Using three-vessel view echocardiograms from our archives, we measured the anteroposterior thymus size and the intrathoracic mediastinal diameter to derive TT-ratios in the SGA (n = 105) and control groups (n = 533) between 19+0 and 21+6 weeks of gestation. We analyzed the association between TT-ratio and SGA adjusted to the week of gestation using logistic regression. Finally, we determined the possible TT-ratio cut-off point for discrimination between SGA and control groups by means of receiver operating characteristics (ROC) curve analysis. RESULTS: The TT-ratio was significantly higher in the SGA group than in the control group (p < 0.001). An increase of the TT-ratio by 0.1 was associated with a 3.1-fold increase in the odds of diagnosing SGA. We determined that a possible discrimination cut-off point between SGA and healthy controls was achieved using a TT-ratio of 0.390 (area under the ROC curve 0.695). CONCLUSION: An increased TT-ratio may represent an additional prenatal screening parameter that improves the prediction of birth weight below the 10th percentile. Prospective studies are now needed to evaluate the use of fetal thymus size as predictive parameter for adverse fetal outcome.

Development and validation of an artificial intelligence assisted prenatal ultrasonography screening system for trainees.

OBJECTIVE: Fetal anomaly screening via ultrasonography, which involves capturing and interpreting standard views, is highly challenging for inexperienced operators. We aimed to develop and validate a prenatal-screening artificial intelligence system (PSAIS) for real-time evaluation of the quality of anatomical images, indicating existing and missing structures. METHODS: Still ultrasonographic images obtained from fetuses of 18-32 weeks of gestation between 2017 and 2018 were used to develop PSAIS based on YOLOv3 with global (anatomic site) and local (structures) feature extraction that could evaluate the image quality and indicate existing and missing structures in the fetal anatomical images. The performance of the PSAIS in recognizing 19 standard views was evaluated using retrospective real-world fetal scan video validation datasets from four hospitals. We stratified sampled frames (standard, similar-to-standard, and background views at approximately 1:1:1) for experts to blindly verify the results. RESULTS: The PSAIS was trained using 134 696 images and validated using 836 videos with 12 697 images. For internal and external validations, the multiclass macro-average areas under the receiver operating characteristic curve were 0.943 (95% confidence interval [CI], 0.815-1.000) and 0.958 (0.864-1.000); the micro-average areas were 0.974 (0.970-0.979) and 0.973 (0.965-0.981), respectively. For similar-to-standard views, the PSAIS accurately labeled 90.9% (90.0%-91.4%) with key structures and indicated missing structures. CONCLUSIONS: An artificial intelligence system developed to assist trainees in fetal anomaly screening demonstrated high agreement with experts in standard view identification.

Anatomical structure characterization of fetal ultrasound images using texture-based segmentation technique via an interactive MATLAB application.

OBJECTIVE: To describe the texture characteristics in several anatomical structures within fetal ultrasound images by applying an image segmentation technique through an application developed in MATLAB mathematical processing software. METHODS: Prospective descriptive observational study with an analytical component. 2D fetal ultrasound images were acquired in patients admitted to the Maternal Fetal Medicine Unit of the Hospital de San José, Bogotá-Colombia. These images were loaded into the developed application to carry out the segmentation and characterization stages by means of 23 numerical texture descriptors. The data were analyzed with central tendency measures and through an embedding process and Euclidean distance. RESULTS: Forty ultrasound images were included, characterizing 54 structures of the fetal placenta, skull, thorax, and abdomen. By embedding the descriptors, the differentiation of biologically known structures as distinct was achieved, as well as the non-differentiation of similar structures, evidenced using 2D and 3D graphs and numerical data with statistical significance. CONCLUSION: The texture characterization of the labeled structures in fetal ultrasound images through the numerical descriptors allows the accurate discrimination of these structures.

In vitro fertilization pregnancy may cause fetal thymic volume involution: A case-control study.

Background: The effect of modern infertility treatment modalities on fetal thymic volume has not been well known. Objective: 3-dimensional (3D) fetal thymus volumes of 18-24 wk in vitro fertilization (IVF) pregnancies and spontaneous pregnancy cases were compared. Materials and Methods: 135 cases were evaluated in this prospective case-control study. The study was conducted between July 2019 and July 2020 at a university hospital in Trabzon, Turkey. Fetal thymus volume was calculated in the pregnant cases included in the study with the help of the virtual organ computer-assisted analysis system included in the advanced ultrasonography system. The fetal thymus volumes were compared between pregnant women with IVF and spontaneous pregnant women. Results: The fetal thymus size was significantly lower in the IVF pregnancy group than in spontaneous pregnancy cases (p < 0.001). It was found that the fetal complications, such as non-reassuring fetal health status and requirement for neonatal intensive care, were higher in cases who became pregnant after IVF treatment. It was also found that the rate of any pregnancy complication was significantly higher in IVF pregnancy group (p = 0.02). Conclusion: In light of these results, it may be concluded that small fetal thymus size may be another fetal complication of IVF pregnancies.

A practical method for prenatal diagnosis of anal atresia by second trimester ultrasound screening - A retrospective study.

OBJECTIVES: The study aimed to demonstrate the performance of anal atresia ultrasound screening in the second trimester and to describe associated experiences in a primary care fetal medicine clinic. MATERIALS AND METHODS: We retrospectively analyzed the medical records of fetuses who underwent a second-trimester screening at the Taiji clinic between November 2019 and May 2022. Fisher's exact test was conducted to investigate potential risk factors. RESULTS: There were 28 459 fetuses screened in our clinic during the study period; eventually, 6 cases were diagnosed with anal atresia after birth. The incidence of anal atresia in our sample was 2.11 in 10 000. Based on our findings, potential risk factors significantly associated with anal atresia included: multiple pregnancies (p-value = 0.0185) and in-vitro fertilization (p-value = 0.038). Half of the anal atresia cases were associated with abnormalities affecting other organ systems, most frequently the genitourinary system (66.7%) and cardiovascular system (66.7%), especially persistent left superior vena cava (2 cases). CONCLUSION: Anal atresia is a malformation that requires extensive care; the clinical management after the prenatal discovery of its signs should include testing for chromosomal abnormalities and close monitoring of the amniotic fluid volume. Therefore, prenatal ultrasound screening for anal atresia in the second trimester is critical, particularly in the cases of multiple and IVF pregnancies, and multiple abnormalities. The fetuses with ultrasound signs of anal atresia should be followed at a later gestational period and referred to a specialized institution for postnatal management planning and parental counseling.

Ultrasound Assessment of the Fetal Optic Chiasm.

This article reviews the literature on different methods of prenatal ultrasound visualization of the optic chiasm (OC) and its applications. Prenatal imaging of the OC is feasible from 19 to 37 weeks of gestation. Evaluation of the OC has been shown crucial in differentiating isolated agenesis of the septum pellucidum from septo-optic dysplasia. Multiple methods can be applied for imaging of the OC, including three-dimensional and two-dimensional ultrasounds in different views, as well as color Doppler. According to the literature, both transabdominal and transvaginal routes produce equally acceptable images. OC visualization might be challenging but can be achieved by developing a standard scanning protocol and raising awareness.

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.

BACKGROUND: Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses. METHODS: We recruited 144 fetuses with structural anomalies between 14 and 2020 and 15 December 2021 in the study. Genetic screening was performed by WES combined with karyotyping and chromosomal microarray analysis. The molecular diagnostic yield of prenatal WES for each type of fetal structural anomaly and the identified pathogenic genes and mutations were reported. RESULTS: In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM). Five additional pathogenic variants were classified as incidental findings. Our study showed that the overall diagnosis rate of WES was 28.1% (27/96) in the parent-fetus trio cases and 16.3% (8/49) in the proband-only cases. Fetuses with musculoskeletal anomalies had the highest diagnostic yield (51.4%, 19/37). In addition, FGFR3 and COL1A1 were the most common pathogenic genes. CONCLUSIONS: Our work expands the mutation spectrum of the genes associated with fetal structural anomalies and provides valuable information for future parental genetic counselling and pregnancy management of the structurally anomalous fetuses.

A novel artificial intelligence model for fetal facial profile marker measurement during the first trimester.

BACKGROUND: To study the validity of an artificial intelligence (AI) model for measuring fetal facial profile markers, and to evaluate the clinical value of the AI model for identifying fetal abnormalities during the first trimester. METHODS: This retrospective study used two-dimensional mid-sagittal fetal profile images taken during singleton pregnancies at 11-13+ 6 weeks of gestation. We measured the facial profile markers, including inferior facial angle (IFA), maxilla-nasion-mandible (MNM) angle, facial-maxillary angle (FMA), frontal space (FS) distance, and profile line (PL) distance using AI and manual measurements. Semantic segmentation and landmark localization were used to develop an AI model to measure the selected markers and evaluate the diagnostic value for fetal abnormalities. The consistency between AI and manual measurements was compared using intraclass correlation coefficients (ICC). The diagnostic value of facial markers measured using the AI model during fetal abnormality screening was evaluated using receiver operating characteristic (ROC) curves. RESULTS: A total of 2372 normal fetuses and 37 with abnormalities were observed, including 18 with trisomy 21, 7 with trisomy 18, and 12 with CLP. Among them, 1872 normal fetuses were used for AI model training and validation, and the remaining 500 normal fetuses and all fetuses with abnormalities were used for clinical testing. The ICCs (95%CI) of the IFA, MNM angle, FMA, FS distance, and PL distance between the AI and manual measurement for the 500 normal fetuses were 0.812 (0.780-0.840), 0.760 (0.720-0.795), 0.766 (0.727-0.800), 0.807 (0.775-0.836), and 0.798 (0.764-0.828), respectively. IFA clinically significantly identified trisomy 21 and trisomy 18, with areas under the ROC curve (AUC) of 0.686 (95%CI, 0.585-0.788) and 0.729 (95%CI, 0.621-0.837), respectively. FMA effectively predicted trisomy 18, with an AUC of 0.904 (95%CI, 0.842-0.966). MNM angle and FS distance exhibited good predictive value in CLP, with AUCs of 0.738 (95%CI, 0.573-0.902) and 0.677 (95%CI, 0.494-0.859), respectively. CONCLUSIONS: The consistency of fetal facial profile marker measurements between the AI and manual measurement was good during the first trimester. The AI model is a convenient and effective tool for the early screen for fetal trisomy 21, trisomy 18, and CLP, which can be generalized to first-trimester scanning (FTS).

Revisiting the utility of prenatal ultrasound in the routine workup of first febrile UTI: A systematic review and meta-analysis of the negative predictive value of prenatal ultrasound for identification of urinary tract abnormalities after first febrile urinary tract infection in children.

CONTEXT: The current EAU/ESPU and recently retired AAP pediatric UTI guidelines recommend renal bladder ultrasound after first febrile UTI in children to screen for structural abnormalities, regardless of findings on prenatal ultrasound. OBJECTIVE: Test the hypothesis that a normal prenatal ultrasound could rule out urinary tract abnormality on post-UTI ultrasound. DATA SOURCES: Medline, Embase, Cochrane Library. STUDY SELECTION: Studies including pediatric patients with first febrile UTI who had both prenatal and post-UTI ultrasound. DATA EXTRACTION: Anatomical abnormalities detected by prenatal and post-UTI ultrasound as reported per individual study criteria were extracted. Meta-analyses of 9 studies (2981 patients) were performed using a random-effects model and composite estimates of the negative predictive value (NPV) of prenatal ultrasound were calculated. RESULTS: Overall summary NPV of prenatal ultrasound for all pediatric patients was 77%, with heterogeneity score (I2) 97.9%. Summary NPV of prenatal ultrasound for all patients under two years of age was similar at 75%, with I2 98.2% For the 4 studies to which we could apply a more stringent definition of abnormality, summary NPV was 85% and I2 97.5% for prediction of moderate post-UTI ultrasound abnormalities and summary NPV was 93% and I2 90.4% for severe abnormalities. DISCUSSION: While we calculated an 85% NPV for a normal prenatal ultrasound to rule out significant postnatal abnormality as defined within individual studies, substantial heterogeneity amongst publications limited the precision of our estimates. This highlights the need for more rigorous investigations with attention to timing of ultrasound and the application of clinically meaningful definitions for abnormal prenatal and post-UTI studies. This may allow judicious use of prenatal ultrasound to guide clinical management for children with first febrile UTI and minimize redundant imaging with potential for false positive results. Until then, the current guidelines are justified based on the limited and heterogenous data from the currently available published studies.

High-type anal atresia presenting as a pseudo "target sign" on prenatal ultrasound.

OBJECTIVE: We present prenatal ultrasound images of two high anal atresia cases. The main screening tool used in our clinic is the "target sign" in the tangential view of the fetal perineum. In the current report, we discuss some challenges in the existing screening practices. CASE REPORT: CASE 1: A 28-year-old woman (gravida 1, para 0) with a twin pregnancy underwent ultrasound screening at 21 weeks of gestation when an absent "target sign" in twin A was discovered. At the same time, we were able to present evidence that if the wrong plane was visualized, other structures could be mistaken as the "target sign". Eventually, high-type anal atresia was confirmed postnatally in Twin A. CASE 2: A 29-year-old woman (gravida 1, para 0) came to our clinic for routine screening at 23 weeks of gestation. In the standard tangential view at the level of the perineum, a low-high concentric circle structure resembling a "target sign" was visualized during a prenatal scan. However, anal atresia was discovered postnatally. A retrospective review of prenatal images revealed discrepancies from the typical "target sign". CONCLUSION: High-type anal atresia may present as a pseudo "target sign" on prenatal ultrasound. Visualization of a "target sign" on fetal ultrasound does not always exclude the diagnosis of anal atresia. It is crucial to evaluate the size, shape, level, and position of the "target sign". The appearance of the bilateral hyperechoic perianal tissue is a hint for the screening of anal atresia.

Alcohol exposure before and during pregnancy is associated with reduced fetal growth: the Safe Passage Study.

BACKGROUND: Prenatal alcohol exposure (PAE) is a worldwide public health concern. While PAE is known to be associated with low birth weight, little is known about timing and quantity of PAE on fetal growth. This study investigated the association between periconceptional and prenatal alcohol exposure and longitudinal fetal growth, focusing on timing and quantity in a high exposure cohort. METHODS: The Safe Passage Study was a prospective cohort study, including 1698 pregnant women. Two-dimensional transabdominal ultrasound examinations were performed to measure fetal femur length, abdominal and head circumference, and biparietal diameter, at three time points during pregnancy. Estimated fetal weight and Z-scores of all parameters were calculated. Trimester-specific alcohol exposure was assessed using the Timeline Followback method. To investigate the associations of specific timing of PAE and fetal growth, two models were built. One with alcohol exposure as accumulative parameter over the course of pregnancy and one trimester specific model, in which PAE was separately analyzed. Linear mixed models adjusted for potential confounders were applied with repeated assessments of both alcohol exposure and fetal growth outcomes. RESULTS: This study demonstrated that periconceptional and prenatal alcohol exposure were associated with reduced fetal growth. Effect sizes are displayed as estimated differences (ED) in Z-score and corresponding 95% confidence intervals (95% CIs). When investigated as accumulative parameter, PAE was related to a smaller femur length (ED30; - 0.13 (95% CI; - 0.22; - 0.04), ED36; - 0.14 (95% CI; - 0.25; - 0.04)) and a smaller abdominal circumference (ED36; - 0.09 (95% CI; - 0.18; - 0.01)). Periconceptional alcohol exposure was associated with a smaller abdominal circumference (ED30; - 0.14 (95% CI; - 0.25; - 0.02), ED36; - 0.22 (95% CI; - 0.37; - 0.06)) and a smaller estimated fetal weight (ED36; - 0.22 (95% CI; - 0.38; - 0.05)). Second trimester alcohol exposure was associated with a smaller abdominal circumference (ED30; - 0.49 (95% CI; - 0.86; - 0.12), ED36; - 0.70 (95% CI; - 1.22; - 0.17)) and estimated fetal weight (ED30; - 0.54 (95% CI; - 0.94; - 0.14), ED36; - 0.69 (95% CI; - 1.25; - 0.14)). No additional association of binge drinking was found besides the already observed association of PAE and fetal growth. CONCLUSIONS: This study demonstrated that PAE negatively affects fetal growth, in particular when exposed during the periconception period or in second trimester. Our results indicate that potential negative consequences of PAE are detectable already before birth. Therefore, healthcare providers should actively address and discourage alcohol use during pregnancy.

Cleft Lip and Palate Antenatal Diagnosis: A Swiss University Center Performance Analysis.

Precision of cleft lip and/or palate antenatal diagnosis plays a significant role in counselling, neonatal care, surgical strategies and psychological support of the family. This study aims to measure the accuracy of antenatal diagnosis in our institution and the detection rate of cleft lip and/or palate on routine morphologic ultrasonography. In this retrospective observational study, we compared antenatal and postnatal diagnosis of 233 patients followed in our unit. We classified our patients according to the Kernahan and Stark's classification system: Group 1: facial cleft including labial and labio-maxillary clefts; Group 2: facial cleft including total, subtotal and submucous palatal clefts; Group 3: labio-maxillary-palatal clefts. Out of 233 patients, 104 were antenatally diagnosed with a facial cleft, i.e., an overall detection rate of 44.6%. The diagnosis was confirmed at birth in 65 of these patients, i.e., an overall accuracy of 62.5%. Of the 67 children (29.2%) in Group 1, the screening detection rate was 58.2% with an antenatal diagnostic accuracy of 48.7%. Of the 97 children (41.6%) in Group 2, the screening detection rate was 2% with an antenatal diagnostic accuracy of 50%. Of the 69 children (29.6%) in Group 3, the screening detection rate was 91.3% with an antenatal diagnostic accuracy of 71.4%. Our study demonstrates a relatively poor diagnostic accuracy in prenatal ultrasound, where the diagnosis was inaccurate in one third to one half of patients. It showed great variability in the screening detection rate depending on the diagnostic group observed, as well as a low rate of detection of palatal clefts.

Feasibility of fetoscopic laser coagulation in triplet pregnancy.

OBJECTIVE: To report the experiences of triplet pregnancies complicated by twin-to-twin transfusion syndrome (TTTS) treated with fetoscopic laser coagulation at a single center. METHODS: Herein, we conducted a retrospective analysis to investigate the management and perinatal outcomes of triplet pregnancies with TTTS treated at a single institution between 2017 and 2022. RESULTS: Seven of the 98 triplet pregnancies (7.1%) encountered were complicated by TTTS, and all were dichorionic triamniotic triplets. Of the seven triplet pregnancies complicated by TTTS, four were treated with fetoscopic laser coagulation at our center, at a median gestational age of 20 weeks. No procedure-related complications or maternal complications were observed. The survival rate was higher and perinatal outcomes were better in fetoscopic laser coagulation cases than in other management cases. Four donor and four recipient triplets survived, with a median gestational age of 33 weeks at delivery. Although there were no cases of poor neonatal outcomes, one case was diagnosed with white matter injury, suspected to be hypoxic-ischemic encephalopathy on postnatal investigation. CONCLUSION: Fetoscopic laser coagulation is a feasible treatment option for triplet TTTS, provided the attending specialists have extensive experience with this technique.

Ultrasonographic monitoring of fetal eye growth parameters throughout gestation in the common marmoset (Callithrix jacchus).

The common marmoset (Callithrix jacchus) is considered an ideal species for developing genetically modified nonhuman primates (NHP) models of human disease, particularly eye disease. They have been proposed as a suitable bridge between rodents and other NHP models due to their similar ophthalmological features to humans. Prenatal ultrasonography is an accurate and reliable diagnostic tool for monitoring fetal development and congenital malformation. We monitored fetal eye growth and development using noninvasive ultrasonography in 40 heads of clinically normal fetuses during pregnancy to establish the criteria for studying congenital eye anomalies in marmosets. The coronal, sagittal, and transverse planes were useful to identify the facial structures for any associated abnormalities. For orbital measurements, biorbital distance (BOD), ocular diameter (OD), interorbital distance (IOD), and total axial length (TAL) were measured in the transverse plane and carefully identified for intraorbital structures. As a result, high correlations were observed between delivery-based gestational age (GA) and biparietal diameter (BPD), BOD, OD, and TAL. The correlation assessments based on BOD provide more reliable results for monitoring eye growth and development in normal marmosets than any other parameters since BOD has the highest correlation coefficient according to both delivery-based GA and BPD among ocular measurements. In conclusion, orbital measurements by prenatal ultrasonography provide reliable indicators of marmoset eye growth, and it could offer early diagnostic criteria to facilitate the development of eye disease models and novel therapies such as genome editing technologies in marmosets.

Low lying placenta: natural course, clinical data, complications and a new model for early prediction of persistency.

OBJECTIVE: To define the natural course and complications, and develop a model for predicting persistency when low-lying placenta (LLP) is detected early in pregnancy. METHODS: This retrospective cohort study included women with LLP detected during an early anatomic scan performed at 13-16 weeks gestation. Additional transvaginal ultrasound exams were assessed for resolution at 22-24 weeks and 36-39 weeks. Patients were categorized as: Group 1-LLP resolved by the second-trimester scan, Group 2-LLP resolved by the third trimester, or Group 3-LLP persisted to delivery. Clinical and laboratory parameters, as well as maternal and neonatal complications, were compared. A linear support vector machine classification was used to define a prediction model for persistent LLP. RESULTS: Among 236 pregnancies with LLP, 189 (80%) resolved by 22-24 weeks, 25 (10.5%) resolved by 36-39 weeks and 22 (9.5%) persisted until delivery. Second trimester hCG levels were higher the longer the LLP persisted (0.8 ± 0.7MoM vs. 1.13 + 0.4 MoM vs. 1.7 ± 1.5 MoM, adjusted p = .03, respectively) and cervical length (mm) was shorter (first trimester: 4.3 ± 0.7 vs. 4.1 ± 0.5 vs. 3.6 ± 1; adjusted p = .008; Second trimester: 4.4 ± 0.1 vs. 4.1 ± 1.2 vs. 3.8 ± 0.8; adjusted p = .02). The predictive accuracy of the linear support vector machine classification model, calculated based on these parameters, was 90.3%. CONCLUSIONS: Persistent LLP has unique clinical characteristics and more complications compared to cases that resolved. Persistency can be predicted with 90.3% accuracy, as early as the beginning of the second trimester by using a linear support vector machine classification model.

Impact of a prenatal screening program on the Down syndrome phenotype: An interrupted time series analysis.

INTRODUCTION: We hypothesized that children with Down syndrome who were born after the implementation of first-trimester combined screening for trisomy 13, 18, and 21 and a second-trimester ultrasound scan in Denmark would show a milder syndrome phenotype. We investigated the birth biometry, prevalence of congenital malformations, and early childhood morbidity of children with Down syndrome before and after implementation of this screening program. MATERIAL AND METHODS: A nationwide register-based study of all live born singletons with Down syndrome in Denmark from 1995 to 2018. In interrupted time series analyses, we studied the temporal developments in birth biometry, prevalence of congenital malformations, and early childhood morbidity related to the implementation of a national prenatal screening program. RESULTS: We included 602 singletons with Down syndrome born before and 308 after implementation of the screening program. Z-scores of birthweight and head circumference increased over time before screening, but this temporal development changed after implementation by -0.05 (95% confidence interval [CI]: -0.11 to 0.01) and -0.05 (95% CI -0.12 to 0.02), respectively. Just after implementation, the prevalence of non-severe congenital heart disease decreased (relative change in odds 0.48 [95% CI: 0.24-0.94]). For severe congenital heart disease, atrioventricular septal defect, and non-heart malformations, this change was 1.16 (95% CI: 0.56-2.41), 0.95 (95% CI: 0.43-2.03), and 0.98 (95% CI: 0.33-2.76), respectively. For all malformations, pre-existing temporal developments did not change following implementation of screening. The implementation was associated with higher odds of admission to a neonatal intensive care unit (relative change 1.98 [95% CI: 0.76-5.26]) and an increased risk of hearing impairment (risk difference 3.4% [95% CI: -0.4% to 7.1%]). In contrast, the implementation was not associated with the incidence of hospital admissions by 2 years of age or with the probability of a thyroid disorder. CONCLUSIONS: After implementation of a national prenatal screening program, we did not observe a milder Down syndrome phenotype apart from an apparent reduction in the proportion of children with non-severe congenital heart disease; this result is, however, limited by small numbers.

A Diagnostic Dilemma: Transposition of the Great Arteries.

Transposition of the great arteries (TGA) remains one of the most common and severe underdiagnosed congenital cardiac anomalies in the prenatal period. Unfortunately, despite advances in prenatal ultrasound screening, the detection rate of major congenital heart defects (CHDs) remains low. We present the case of a preterm male infant delivered limp with generalized cyanosis and in respiratory distress at 36 weeks gestation with postnatal echocardiography (ECHO) depicting dextro-TGA (d-TGA). Maternal prenatal targeted fetal anomaly ultrasonography at 18 weeks gestation showed abnormal right ventricle and right ventricular outflow tract. Subsequent two-time repeat fetal ECHO showed ventricular septal defect. This case represents how challenging and unrecognized critical CHDs can be. Furthermore, it highlights the need for clinicians to have a high index of suspicion when newborns present with clinical manifestations of critical CHDs and manage it accordingly to avoid severe complications.