Fetal Micro and Macroglossia: Defining Normal Fetal Tongue Size.

OBJECTIVES: Abnormal fetal tongue size is a phenotypic feature of various syndromes including Beckwith-Wiedemann, Pierre-Robin, oromandibular limb hypoplasia, chromosomal aberrations, etc. Current data regarding normal fetal tongue size are limited. Hence, micro/macroglossia are subjectively determined. The aim of the study was to construct a contemporary fetal tongue nomogram and to assess its clinical contribution. METHODS: A prospective cross-sectional study was performed in well dated, low risk, singleton pregnancies. Fetal tongues were measured by 5 trained sonographers. Highest quality images were selected. Intra- and interobserver variability was assessed. Tongue length, width, area, and circumference 1st to 99th centiles were calculated for each gestational week. Based on the normal tongue size charts, we created a Tongue Centile Calculator. RESULTS: Over 18 months, 664 tongue measurements were performed. A cubic polynomial regression model best described the correlation between tongue size and gestational age. The correlation coefficient (r2 ) was 0.934, 0.932, 0.925, and 0.953 for tongue length, width, area, and circumference, respectively (P < .001). Intra- and interobserver variability had high interclass correlation coefficients (>0.9). Using the new charts, we were able to identify 2 cases of macroglossia, subsequently diagnosed with Beckwith-Wiedemann, and 4 cases of microglossia, 3 associated with Pierre-Robin sequence, and 1 associated with persistent buccopharyngeal membrane. CONCLUSIONS: We present novel fetal tongue size charts from 13 to 40 weeks of gestation. Clinical application of these nomograms may be beneficial in the prenatal diagnosis of syndromes or malformations associated with abnormal fetal tongue size.

Fetal esophageal imaging: Early pregnancy as a window of opportunity.

OBJECTIVE: To describe the sonographic appearance of the fetal esophagus during early pregnancy and evaluate the feasibility of imaging the entire esophageal length. In addition, we present a case of disrupted esophageal continuity, subsequently diagnosed with esophageal atresia (EA). METHODS: A prospective observational study of 145 patients. During the early second trimester anomaly scan performed at 12-17 weeks' gestation the entire esophagus was captured in a single sonographic image at the midsagittal plane (one shot technique). Postnatal follow-up of esophageal patency included review of medical records and telephone interviews. RESULTS: Complete visualization of the esophagus (neck to diaphragm) was possible in 144 cases. In 88% of cases the esophagus was demonstrated by transvaginal approach. The time required to obtain the desired view of the esophagus, once the fetus was in an optimal position, was on average 13 s (range: 5-30 s). In one case at 15 weeks' gestation, the cervical segment of the esophagus was demonstrated while the lower thoracic segment was not identified. Subsequently EA was diagnosed. CONCLUSIONS: It is feasible to demonstrate the entire esophagus during early second trimester anomaly scan. An early second trimester anomaly scan may serve as a window of opportunity for EA screening.

The "No ARSA" Sign: A Novel Method of Prenatal Screening for Aberrant Right Subclavian Artery.

An aberrant right subclavian artery (ARSA) can be overlooked by the conventional method as described by Chaoui et al., due to acoustic shadowing. The aim of this study was to evaluate the feasibility and accuracy of a novel screening method for ARSA by demonstrating the brachiocephalic artery bifurcation, referred to as the "No ARSA" sign. A prospective study conducted at a tertiary care center between 2018 and 2019 included unselected pregnant patients at a median gestational age of 15.1 (14.2-22.1; IQR (inter-quartile range)) weeks, who had been referred for a routine or targeted anomaly scan. All participants were scanned for the presence or absence of ARSA using both the conventional and the novel "No ARSA" methods for validation purposes. A total of 226 unselected patients were enrolled in the study. The "No ARSA" sign was visualized in 218 fetuses (96.5%). In the remaining 8 cases (3.5%), the "No ARSA" sign was not demonstrated. In these fetuses, an ARSA was visualized by the conventional method. The new method exhibited 100% feasibility and was in complete agreement with the conventional method. Intra- and inter-observer agreement was excellent (κ = 1). The results of the study suggest that the "No ARSA" sign is an efficient and reliable screening tool for ARSA.

Can the Need for Invasive Intervention in Tubo-ovarian Abscess Be Predicted? The Implication of C-reactive Protein Measurements.

STUDY OBJECTIVE: To evaluate the clinical parameters of hospitalized patients with pelvic inflammatory disease (PID) for the presence of tubo-ovarian abscess (TOA) and predict the need for intervention. DESIGN: A prospective cohort study. SETTING: A tertiary care university medical center. PATIENTS: Ninety-four patients were diagnosed with complicated PID and hospitalized between 2015 and 2017. INTERVENTIONS: Patients with PID were treated with parenteral antibiotics according to Centers for Disease Control guidelines. Demographic, clinical, sonographic, and laboratory data for patients with PID were analyzed. Inflammatory markers including C-reactive protein (CRP), white blood cells (WBCs), erythrocyte sedimentation rate (ESR), and clinical parameters were collected at admission and during hospitalization. MEASUREMENTS AND MAIN RESULTS: Forty-eight of 94 patients (51.1%) hospitalized with complicated PID were diagnosed with TOA sonographically. CRP levels were the strongest predictor of TOA, followed by WBC count, ESR, and fever on admission. The areas under the receiver operating characteristic (ROC) curve for CRP, WBC, ESR, and fever were .92, .75, .73 and .62, respectively. CRP specificity was 93.4% and sensitivity was 85.4% for predicting TOA, with cutoff value of 49.3 mg/L. Twelve patients (25%) failed conservative management and underwent surgical intervention including laparoscopy (n = 7), computed tomography (CT)-guided drainage (n = 4), and laparotomy (n = 1). In this group, CRP levels significantly increased from admission to day 1 and day 2 during hospitalization (128.26, 173.75, and 214.66 mg/L, respectively; p < .05 for both). In the conservative management group, CRP levels showed a plateau from admission to day 1 and then a decrease until day 3 (110, 120.49, 97.52, and 78.45 mg/L, respectively). CONCLUSION: CRP is a sensitive, specific inflammatory marker for predicting TOA in patients with complicated PID, and levels >49.3 mg/L suggest the presence of TOA. In the TOA group, CRP level trends correlated well with success or failure of conservative management. Increasing CRP levels during treatment may be used as an indicator of the need for invasive intervention, and daily CRP measurements can help predict the need for invasive intervention.

Impact of BRCA mutations on outcomes among patients with serous endometrial cancer.

OBJECTIVE: To compare the outcome of patients with uterine papillary serous cancer (UPSC) carrying a BRCA mutation with that of patients with UPSC who are BRCA wild-type. METHODS: The present retrospective, multicenter cohort study included women with UPSC who were diagnosed between January 1, 1993, and December 31, 2014, and were tested for the BRCA mutation at three Israeli medical centers. Data were collected from the medical records, and patient and tumor characteristics and disease outcomes were compared between BRCA mutation carriers and noncarriers. The primary outcome was overall survival. RESULTS: In total, 14 BRCA mutation carriers and 50 noncarriers were included. Both groups had similar treatment modalities (P=0.530). A non-significant trend toward BRCA mutation carriers being diagnosed more frequently at an advanced stage compared with noncarriers was observed (P=0.090). Median overall survival (25 vs 37 months; P=0.442), progression-free survival (37 vs 29 months; P=0.536), and disease-specific survival (60 vs 39 months; P=0.316) were similar between the carrier and noncarrier groups. CONCLUSIONS: Although not significant, BRCA mutation carriers tended to have more advanced disease at diagnosis. However, the survival was similar irrespective of the BRCA status in this small group. Further research is needed to confirm these findings in a larger cohort.