Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence.

BACKGROUND: Ultrasonographic soft markers are normal variants, rather than fetal abnormalities, and guidelines recommend a detailed survey of fetal anatomy to determine the necessity of antenatal karyotyping. Anecdotal reports have described cases with ultrasonographic soft markers in which chromosomal microarray analysis (CMA) revealed pathogenic copy number variants (CNVs) despite normal results on conventional karyotyping, but CMA for ultrasonographic soft markers remains a matter of debate. In this systematic review, we evaluated the clinical significance of CMA for pregnancies with isolated ultrasonographic soft markers and a normal fetal karyotype. METHODS: An electronic search was conducted by an experienced librarian through the MEDLINE, Embase, and Cochrane CENTRAL databases. We reviewed 3,338 articles (3,325 identified by database searching and 13 by a hand search) about isolated ultrasonographic soft markers, and seven ultrasonographic markers (choroid plexus cysts, echogenic bowel, echogenic intracardiac focus, hypoplastic nasal bone, short femur [SF], single umbilical artery, and urinary tract dilatation) were included for this study. RESULTS: Seven eligible articles were included in the final review. Pathogenic or likely pathogenic CNVs were found in fetuses with isolated ultrasonographic soft markers and a normal karyotype. The overall prevalence of pathogenic or likely pathogenic CNVs was 2.0% (41 of 2,048). The diagnostic yield of CMA was highest in fetuses with isolated SF (9 of 225, 3.9%). CONCLUSION: CMA could aid in risk assessment and pregnancy counseling in pregnancies where the fetus has isolated ultrasonographic soft markers along with a normal karyotype.

Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study.

BACKGROUND: Noninvasive prenatal testing (NIPT) is increasingly used in the clinical prenatal screening of twin pregnancies, and its screening performance for chromosomal abnormalities requires further evaluation. For twin pregnancies with indications for prenatal diagnosis, there is a lack of clinical data to assess the prenatal diagnosis rate (PDR). The aim of this study was to evaluate the screening performance of NIPT for foetal chromosomal abnormalities in twin pregnancies and the PDR in the second and third trimesters. METHODS: Ultrasound scans were carried out for all twin pregnancies between 11 and 13+ 6 gestational weeks. For twin pregnancies with nuchal translucency thickness˂3.0 mm and no foetal structural malformations, NIPT was performed after blood sampling, followed by routine ultrasound monitoring. Women with twin pregnancies who underwent NIPT at the prenatal diagnostic centre of Xiangya Hospital from January 2018 to May 2022 were included in the study. Genetic counselling was offered to each pregnant woman when the NIPT result indicated a high risk of abnormalities or abnormal ultrasonographic (USG) findings were detected. We followed up twin pregnancies for NIPT results, USG findings, prenatal diagnosis results and pregnancy outcomes. RESULTS: In 1754 twin pregnancies, the sensitivity, specificity and positive predictive value of NIPT for trisomy 21 were 100%, 99.9% and 75%, and the corresponding values for sex chromosome aneuploidy (SCA) were 100%, 99.9% and 50%, respectively. For the 14 twin pregnancies for which the NIPT results indicated a high risk of abnormalities, the PDR was 78.6% (11/14). For the 492 twin pregnancies for which the NIPT results indicated a low risk of abnormalities, the rate of USG findings in the second and third trimesters was 39.4% (194/492); of these pregnancies, prenatal diagnosis was recommended for 16.7% (82/492), but it was actually performed in only 8.3% (41/492), and the PDR was 50% (41/82). There was no significant difference in the PDR between the NIPT high-risk and low-risk groups. CONCLUSIONS: The screening performance of NIPT for SCA in twin pregnancies needs to be further evaluated. When abnormal NIPT results or USG findings are used as the main prenatal diagnostic indicator in the second and third trimesters, the PDR is poor.

Predictive value of ultrasound in prenatal diagnosis of hypospadias: hints for accurate diagnosis.

OBJECTIVES: This study aims to assess the diagnostic accuracy of targeted ultrasound examination in prenatal diagnosis of hypospadias and to evaluate the predictive values of defined ultrasonographic findings of hypospadias. METHODS: The cases diagnosed with hypospadias in our fetal medicine center were identified on an electronic database. The ultrasound reports, images and hospital records were reviewed retrospectively. The predictive value of prenatal ultrasound diagnosis and the predictive values of each sonographic finding were assessed according to the postnatal clinical examinations. RESULTS: Thirty-nine cases were diagnosed with hypospadias on ultrasound during the 6 years. Nine fetuses with missing postnatal examination records were excluded. Twentytwo of the remaining fetuses had their prenatal diagnosis of hypospadias confirmed in postnatal examinations, indicating a 73.3 % positive predictive value. Normal external genitalia was detected in postnatal examinations of three fetuses. Five fetuses were diagnosed with other external genital abnormalities, including micropenis (n=2), clitoromegaly (n=2), and buried penis with bifid scrotum (n=1) in postnatal examinations. The positive predictive value of prenatal ultrasound for any external genital abnormality was 90 %. CONCLUSIONS: Although the positive predictive value of ultrasound for genital anomalies is satisfying, it is slightly lower for the specific diagnosis of hypospadias. This reflects overlapping ultrasound findings of different external genitalia anomalies. Standardized, systematic evaluation of the internal and external genital organs, karyotyping and genetic sex determination are essential to achieve a precise prenatal diagnosis of hypospadias.

Development and evaluation of an original phantom model of ultrasonography-guided thyroid gland biopsy for the training of surgical residents and students.

PURPOSES: Fine-needle aspiration cytology (FNAC) is a specific and important test used for the diagnosis of thyroid gland cancer. We developed a thyroid gland phantom using original manufacturing techniques and direct three-dimensional (3D) printing. The aim of this study was to confirm the effectiveness of this phantom by collecting data to evaluate puncture training. METHODS: Data from 45 ultrasonography-guided thyroid nodule FNAC procedures performed on our thyroid phantom were evaluated in our department. The first group comprised qualified physicians who specialized in thyroid gland treatment (group A; n = 10). The second and third groups comprised senior and junior residents (group B; n = 8 and group C; n = 12; respectively). The fourth group comprised students (group D; n = 15). We measured the times taken by these groups to complete each task. RESULTS: The skills of all participants in groups B, C, and D improved after using this phantom involving the major (parallel)- (0.47 ± 0.07) and short (orthogonal)-axes (0.52 ± 0.07) methods (P < 0.001). The number of erroneous punctures decreased from 53 to 3. CONCLUSIONS: Our original phantom improved the puncture skills of students and junior doctors and was suitable as a tailored training model for practicing thyroid gland transfixion.

Serial ultrasonographic measurements of fetal parameters over three successive pregnancies in a captive Eastern black-and-white colobus monkey (Colobus guereza).

This study provides ultrasonographic fetal growth charts for the Eastern black-and-white colobus monkey (Colobus guereza). Throughout three consecutive gestations (-162 to -2 days to parturition) in a single dam, we opportunistically obtained ultrasonographic measurements for the following parameters: biparietal diameter, head circumference, humerus length, femur length, tibia length, radius length, thoracic width, kidney length, and crown-rump length. Biparietal diameter was the most consistently measured parameter. First detection of fetuses occurred between 96 and 162 days before parturition. This report demonstrates that voluntary transabdominal ultrasound can be well-tolerated in the colobus monkey using operant conditioning. These findings may be useful to assess fetal development and predict parturition dates in the absence of a known conception date in this species.

Intrauterine Growth Restriction Due to Gestational Diabetes: From Pathophysiology to Diagnosis and Management.

Intrauterine growth restriction (IUGR) represents a condition where the fetal weight is less than the 10th percentile for gestational age, or the estimated fetal weight is lower than expected based on gestational age. IUGR can be caused by various factors such as maternal, placental or fetal factors and can lead to various complications for both the fetus and the mother, including fetal distress, stillbirth, preterm delivery, and maternal hypertension. Women with gestational diabetes are at an increased risk of developing IUGR. This article reviews the different aspects of gestational diabetes in addition to IUGR, the diagnostic methods available for IUGR detection, including ultrasound and Doppler studies, discusses the management strategies for women with IUGR and gestational diabetes and analyzes the importance of early detection and timely intervention to improve pregnancy outcomes.

Systematic review and meta-analysis of endoscopic ultrasound drainage for the management of fluid collections after pancreas surgery.

BACKGROUND: The outcomes of endoscopic ultrasonography-guided drainage (EUSD) in treatment of pancreas fluid collection (PFC) after pancreas surgeries have not been evaluated systematically. The current systematic review and meta-analysis aim to evaluate the outcomes of EUSD in patients with PFC after pancreas surgery and compare it with percutaneous drainage (PCD). METHODS: PubMed and Web of Science databases were searched for studies reporting outcomes EUSD in treatment of PFC after pancreas surgeries, from their inception until January 2022. Two meta-analyses were performed: (A) a systematic review and single-arm meta-analysis of EUSD (meta-analysis A) and (B) two-arm meta-analysis comparing the outcomes of EUSD and PCD (meta-analysis B). Pooled proportion of the outcomes in meta-analysis A as well as odds ratio (OR) and mean difference (MD) in meta-analysis B was calculated to determine the technical and clinical success rates, complications rate, hospital stay, and recurrence rate. ROBINS-I tool was used to assess the risk of bias. RESULTS: The literature search retrieved 610 articles, 25 of which were eligible for inclusion. Included clinical studies comprised reports on 695 patients. Twenty-five studies (477 patients) were included in meta-analysis A and eight studies (356 patients) were included in meta-analysis B. In meta-analysis A, the technical and clinical success rates of EUSD were 94% and 87%, respectively, with post-procedural complications of 14% and recurrence rates of 9%. Meta-analysis B showed comparable technical and clinical success rates as well as complications rates between EUSD and PCD. EUSD showed significantly shorter duration of hospital stay compared to that of patients treated with PCD. CONCLUSION: EUSD seems to be associated with high technical and clinical success rates, with low rates of procedure-related complications. Although EUSD leads to shorter hospital stay compared to PCD, the certainty of evidence was low in this regard.

Endobronchial ultrasound-guided transbronchial needle aspiration in patients with previously treated malignancies: diagnostic performance and predictive value.

BACKGROUND: Endobronchial ultrasound-guided transbronchial needle aspiration is a minimally invasive and effective sampling approach for patients with mediastinal or hilar lymphadenopathy. Increased recognition of the ultrasonographic features revealed the value of its images in predicting mediastinal lymph node malignancy. However, its diagnostic validity and the predictive value of its ultrasonographic features have not been demonstrated well in patients after systemic anti-tumor therapy. This study aimed to evaluate the efficiency of endobronchial ultrasound-guided transbronchial needle aspiration in patients with suspicious lymph nodes after anti-tumor therapy. METHODS: We retrospectively reviewed cases of endobronchial ultrasound-guided transbronchial needle aspiration performed between January 2019 and August 2021 at a single tertiary hospital center. Patients with suspected mediastinal or hilar lymph nodes within 5 years of systemic anti-tumor therapy were enrolled. Final diagnoses were determined by pathologic diagnoses of samples from transbronchial needle aspiration, surgery, or follow-up for at least 6 months. Ultrasonographic features were analyzed to assess the predictive value of malignant lymph nodes after treatment. RESULTS: Overall, 168 lymph nodes of 138 patients were analyzed. Among 110 (65.5%) malignant lymph nodes, 75 originated from lung cancers; the other 35 were from other malignancies. No complications related to endobronchial ultrasound-guided transbronchial needle aspiration were observed. Of 58 negative results of transbronchial needle aspiration, 51 were proven to be true negatives; 7 were false. The overall sensitivity and the negative predictive value were 94.02% and 87.93%, respectively. Univariate and multivariate analysis revealed the absence of central hilar structure and short axis > 10 mm as independent predictive factors for malignancy. CONCLUSIONS: Endobronchial ultrasound-guided transbronchial needle aspiration performs satisfactorily in diagnosing mediastinal and hilar lymphadenopathy even after anti-tumor treatment.

The postpartum uterine ultrasonographic scale in assessment of uterine involution after cesarean section in treated thrombophilia pregnant patients at term.

BACKGROUND: Pregnancy is a prothrombotic condition which can be abnormally exaggerated in women with thrombophilia. METHODS: In a prospective study, patients who delivered at term, by cesarean section, between 1 October 2017 and 1 December 2021, who already had a diagnosis of thrombophilia before coming to our hospital, were included in the study group (n = 80). A similar number of nonthrombophilia patients (n = 80) without any history of thrombotic events, age- and para-matched with the study group, were included in the control group. The postpartum uterine ultrasonographic scale (PUUS) values, in the first 24-48 h, were correlated with the patients' data. RESULTS: The P-LCR (platelet large cell ratio), was significantly higher in the treated thrombophilia group (p = 0.042). There was no correlation between PUUS and complete blood count values, coagulation factors, maternal characteristics, or fetal outcomes, except for postpartum neutrophils (p = 0.047) and postpartum platelet count (p = 0.046). CONCLUSIONS: Postpartum uterine involution was not significantly different, after cesarean section, between treated thrombophilia patients and nonthrombophilia patients. Involution correlated only with postpartum neutrophils and postpartum platelet count.

New ultrasonographic midtrimester scoring method for predicting spontaneous preterm birth in uncomplicated asymptomatic twin pregnancies.

OBJECTIVES: The aim of the present study was to evaluate a new ultrasonographic scoring method that could predict spontaneous preterm birth (sPTB) in uncomplicated twin pregnancies during routine anomaly screening in the midtrimester. METHODS: This prospective study included women with a monochorionic diamniotic (MCDA) or dichorionic diamniotic (DCDA) twin pregnancy gestational ages from 170/7 through 226/7. A new ultrasonographic score between 0 and 5 points was calculated using cervical length (CL), uterocervical angle (UCA), and cervical dilatation status during routine anomaly screening in the midtrimester. The primary outcome of the study was the prediction of sPTB < 32 and <34 gestational weeks. RESULTS: A total of 118 pregnant women with twins were evaluated, 31 of whom delivered before 34 gestational weeks an 87 of whom delivered after 34 gestational weeks. The sensitivity and specificity values were separately calculated for scores of 3.5 and 2.5 for predicting sPTB < 32 gestational weeks. The cut-off value of 3.5 provided a sensitivity of 80% and a specificity of 82%. When the score was 2.5, the sensitivity and specificity were 86 and 71%, respectively. To determine a score for predicting sPTB < 34 gestational week cut-off value of 3.5 provided a sensitivity of 80% and a specificity of 90%. When the score value was 2.5, the sensitivity and specificity of the method were 83 and 81%, respectively. CONCLUSIONS: Our results indicated that the midtrimester new scoring is a simple technique that can be easily used as an improved tool for predicting the risk of sPTB in women with a twin pregnancy.

The value of clinical-ultrasonographic feature model to predict the severity of secondary hyperparathyroidism.

OBJECTIVES: To analyze conventional ultrasound (CUS) and contrast-enhanced ultrasound (CEUS) features in patients with secondary hyperparathyroidism (SHPT) and to evaluate the clinical-ultrasonographic feature based model for predicting the severity of SHPT. METHODS: From February 2016 to March 2021, a total of 59 patients (age 51.3 ± 11.7 years, seCr 797.8 ± 431.7 µmol/L, iPTH 1535.1 ± 1063.9 ng/L) with SHPT (including 181 parathyroid glands (PTGs)) without the history of intact parathyroid hormone (iPTH)-reducing drugs using were enrolled. The patients were divided into the mild SHPT group (mSHPT, iPTH <800 ng/L) and the severe SHPT group (sSHPT, iPTH ≥ 800 ng/L) according to the serum iPTH level. The clinical test data of patients were collected and CUS and CEUS examinations were performed for every patient. Multivariable logistic regression model according to clinical-ultrasonographic features was adopted to establish a nomogram. We performed K-fold cross-validation on this nomogram model and nomogram performance was determined by its discrimination, calibration, and clinical usefulness. RESULTS: There were 19 patients in the mSHPT group and 40 patients in the sSHPT group. Multivariable logistic regression indicated serum calcium, serum phosphorus and total volume of PTGs were independent predictors related with serum iPTH level. Even though CEUS score of wash-in and wash-out were showed related to severity of SHPT in univariate logistic regression analysis, they were not predictors of SHPT severity (p = 0.539, 0.474 respectively). The nomogram developed by clinical and ultrasonographic features showed good calibration and discrimination. The accuracy and the area under the curve (AUC), positive predictive value (PPV), negative predictive value (NPV) and accuracy of this model were 0.888, 92.5%, 63.2% and 83.1%, respectively. When applied to internal validation, the score revealed good discrimination with stratified fivefold cross-validation in the cohort (mean AUC = 0.833). CONCLUSIONS: The clinical-ultrasonographic features model has good performance for predicting the severity of SHPT.

The role of the flexor pronator muscles as dynamic stabilizers against elbow valgus stress in patients with medial ulnar collateral ligament insufficiency.

BACKGROUND: The flexor pronator muscles (FPMs) have been reported to act as dynamic stabilizers against valgus forces in overhead-throwing athletes. Several studies have demonstrated the anatomic, biomechanical, and clinical effects of the FPMs. However, no studies have investigated the in vivo kinematics of the FPMs against the valgus forces on the elbow. This study aimed to clarify the clinical contribution of the FPMs as dynamic stabilizers in medial ulnar collateral ligament (MUCL) insufficiency. METHODS: Eighteen baseball players with MUCL injury participated in this study. The elbow was flexed to 90°, and the forearm was placed in the supinated position. Manual valgus stress was applied to the elbow joint until maximal shoulder external rotation was achieved. The width of the ulnohumeral joint space was measured using ultrasonography, and any changes in medial elbow pain were recorded before and after isometric forearm pronation. RESULTS: All the subjects had MUCL tenderness and felt medial elbow pain when elbow valgus stress was applied. The width of the medial joint space was significantly larger on the injured side than on the healthy side (5.1 ± 1.0 mm vs. 3.2 ± 1.0 mm) with elbow valgus stress. During isometric forearm pronation, the width of the medial joint space was significantly decreased (3.1 ± 0.9 mm vs. 2.6 ± 1.0 mm) and medial elbow pain had completely diminished. CONCLUSION: Isometric forearm pronation reduces valgus stress-induced widening of the medial joint space and medial elbow pain in patients with MUCL insufficiency.

Comparison between cystic biliary atresia and choledochal cyst: a clinical controlled study.

PURPOSE: It is difficult to distinguish cystic biliary atresia (CBA) from choledochal cyst (CC) before intraoperative cholangiography in neonates or young infants because of the similar ultrasonographic patterns and clinical manifestations. This study is to investigate the difference of clinical parameters between CBA and CC. METHODS: 96 patients with cyst at hepatic hilum whose ages were less than 120 days during the period from Jan'2013 to Nov'2015 were retrospectively studied, they were divided into CBA group and CC group by intraoperative cholangiography, there were 29 cases of CBA and 67 cases of CC. It was compared and analyzed on laboratory data, preoperative ultrasonographic features, intraoperative cholangiography and histopathological results between the two groups. Data were quoted as means ± standard deviation (SD) or median (range), Student's t test, non-parametric test and χ2 test were used as appropriate. P < 0.05 was considered as significant statistical difference. RESULTS: CBA group and CC group were comparable for the operative age (51.76 ± 23.99 days vs. 50.03 ± 26.38 days, P = 0.76), weight (4.60 ± 0.75 kg vs. 4.44 ± 1.03 kg, P = 0.46) and sex proportion (M/F: 9/20 vs. 20/47, P = 0.91). there were significant differences (CBA vs. CC) in ALT [59(3-375) vs. 30 (6-247) IU/L, P < 0.001], AST [140(30-694) vs. 44(18-410) IU/L, P < 0.001], T-Bil [190 (107-326) vs.87(5-310) µmol/L, P < 0.001], D-Bil [85 (31-174) vs.14(1-122) µmol/L, P < 0.001] and TBA [112 (23-269) vs.9(1-337) µmol/L, P < 0.001]. There was insignificant statistical difference in GGT [332(112-2154) vs. 226(21-1810) IU/L, P = 0.099] between CBA group and CC group. The cyst size in CBA group was obviously smaller than CC group (the maximum longitudinal diameter: 2.52 ± 1.16 cm vs. 4.71 ± 2.23 cm, P < 0.001; the maximum transverse diameter: 1.64 ± 0.75 cm vs. 3.41 ± 1.79 cm, P < 0.001). Significant differences presented in preoperative ultrasonographic features and histopathological results between the two groups. CONCLUSION: CBA should be suspected if ultrasonography indicates small cyst with characteristic manifestations of BA and elevated laboratory data. GGT was an insensitive indicator in distinguishing CBA from CC. Cholangiography should be done for the suspected CBA patients as soon as possible to confirm the diagnosis and have surgical intervention timely.

EVALUATION OF ULTRASONOGRAPHIC ANATOMY OF TRANSVERSUS ABDOMINIS PLANE BEFORE AND AFTER CESAREAN SECTION.

Transversus abdominis plane (TAP) block is used to provide analgesia after lower abdominal surgery operations. TAP block has been shown to reduce postoperative pain scores and side effects of opioids after cesarean section. Generally, TAP block was introduced after cesarean section. It is assumed that delivery affects sonographic characteristics of the abdominal wall. For this reason, ultrasonographic measurement of the anatomy of the region defined for TAP block was performed before and after cesarean section. It was aimed to determine the estimated TAP block distance in the population undergoing cesarean section. Fifty patients who underwent cesarean section in the operating room were included in the study. The inclusion criteria were ASA score I-II, age 18-45 years, gestational age ≥32 weeks, and cesarean section performed by Pfannenstiel incision. Data on patient age, weight, height, body mass index, gravidity, parity, gestational age (weeks), concomitant disease and allergy were recorded. According to the results obtained in the study, ultrasound should be performed if TAP block is accessible. Before cesarean section, the external oblique muscle and internal oblique muscle are closer to surface than after cesarean section since the TAP distance after pregnancy will be deeper. Systematic data on ultrasonographic anatomy of the abdominal wall in pregnant women have not yet been published. The obstetric anesthesiologist should be aware of these changes when planning a TAP block in the context of cesarean section. There is a need for larger prospective studies.

Association of ultrasonographically determined anatomical location of Bethesda 3 thyroid nodules with differentiated thyroid cancer.

BACKGROUND: The size of a thyroid nodule and certain sonographic features, such as marked hypoechogenicity, microcalcifications, taller-than-wide shape, microlobulated, or irregular margins, indicate the greater malignancy risk. The frequency of the atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) category among cytology reports from thyroid fine-needle aspirations ranges from 0.8% to 28%, whereas the risk of malignancy of these nodules varies from 6% to 97%. This retrospective analysis investigated whether the preoperative ultrasonographic location of Bethesda 3 thyroid nodules is a predictive risk factor for differentiated thyroid cancer (DTC). METHODS: A total of 387 patients who underwent total thyroidectomy for a nodule with AUS/FLUS cytology and diagnosed with a DTC at five tertiary referral centers between 2010 and 2020 were retrospectively analyzed. The location of the thyroid nodule with AUS/FLUS cytology was categorized into two groups: one group was composed of the isthmus, upper lobe, middle lobe, and lower lobe, whereas the latter consisted of right lobe, left lobe, and isthmus. RESULTS: DTC was diagnosed in 40.6% (n = 157) of the operated nodules. Multiple logistic regression analysis has revealed that hypoechogenicity of the nodule (odds ratio [OR] = 2.929, p < 0.001) was the only independent predictive factor for the malignancy of the nodules with AUS/FLUS, whereas the location of the nodule, age, and sex were not significantly independent risk factors. Multifocality and contralateral benign nodules were independent predictive factors for multicentricity (OR = 3.5, p = 0.002; OR = 5.5, p = 0.001, respectively). CONCLUSION: As the first study investigating the association between a Bethesda 3 nodule location and the risk of malignancy by evaluating postoperative cytology reports, the results showed that nodule location with AUS/FLUS on fine-needle aspiration biopsy was not a predictive risk factor for the diagnosis of DTC.

Neurodevelopmental outcome at 2 years of corrected age in fetuses with increased nuchal translucency thickness and normal karyotype compared with matched controls.

OBJECTIVES: Increased nuchal translucency (NT) thickness is an antenatal marker of aneuploidy or malformation that can lead to termination of pregnancy. This study assessed the long-term neurodevelopmental prognosis of infants who had isolated increased NT in utero. METHODS: This was a prospective cohort study of infants with a NT thickness > 95th percentile in the first trimester, but with a normal karyotype and no major anomalies, and controls with normal NT matched for birth weight, Apgar score, place of birth, parity and gestational age at birth. At 2 years of corrected age, all infants underwent the psychometric Brunet-Lézine test to evaluate their developmental quotient (DQ), overall (global) and specifically for the areas of posture, language, coordination and sociability. RESULTS: A total of 203 chromosomally normal infants were included in the increased-NT group and 208 in the control group. The mean global DQ was significantly lower in the increased-NT group than in the control group (108.6 ± 9.7 vs 112.8 ± 8.3; P < 0.0001), but it was within the normal range expected for that age in both groups. Similarly, the mean DQs for coordination, sociability and language, but not for posture, were significantly lower in infants with increased NT than in controls. Only one case with increased NT had a DQ < 70 (defined as severe neurodevelopmental impairment), compared with none in the control group. The difference between the two groups remained significant for a NT threshold ≥ 99th percentile and when the data were adjusted for NT thickness, the infant's sex and the mother's educational level. In the increased-NT group, NT thickness was < 3.5 mm in over half (56%) of the infants, between 3.5 mm and 5 mm in 33% and > 5 mm in 11%, with a mean global DQ of 108.4, 110.1 and 109.7, respectively. CONCLUSIONS: Infants who had isolated increased fetal NT in the first trimester had a significantly lower, but normal, DQ at a corrected age of 2 years, when compared with controls. The findings were independent of the infant's sex, fetal NT thickness and the mother's educational level. © 2020 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Diagnostic performance of transvaginal ultrasound and magnetic resonance imaging for preoperative evaluation of low-grade endometrioid endometrial carcinoma: prospective comparative study.

OBJECTIVE: To compare the diagnostic performance of transvaginal ultrasound (TVS) and magnetic resonance imaging (MRI) in the prediction of deep myometrial invasion (DMI) and cervical stromal invasion (CSI) in patients with low-grade (Grade 1 or 2) endometrioid endometrial cancer (EEC). METHODS: This was a prospective study including all patients with low-grade EEC diagnosed between October 2013 and July 2018 at the Vall d'Hebron Hospital in Barcelona, Spain. Preoperative staging was performed using TVS and MRI, followed by surgical staging. Final histology was considered as the reference standard. Sensitivity, specificity, likelihood ratios and diagnostic accuracy were calculated for both imaging techniques in the prediction of DMI and CSI, and the agreement index was calculated for both techniques. The STARD 2015 guidelines were followed. RESULTS: A total of 131 patients with low-grade EEC were included consecutively. Sensitivity was higher for TVS than for MRI both for the prediction of DMI (69% (95% CI, 53-82%) vs 51% (95% CI, 36-66%), respectively) and CSI (43% (95% CI, 27-61%) vs 24% (95% CI, 12-41%), respectively). Specificity was similar for TVS and MRI in the prediction of DMI (87% (95% CI, 78-93%) vs 91% (95% CI, 82-96%)) and equal in the prediction of CSI (97% (95% CI, 91-99%) for both). The agreement index between TVS and MRI was 0.84 (95% CI, 0.76-0.90) for DMI and 0.92 (95% CI, 0.85-0.96) for CSI. CONCLUSIONS: The diagnostic performance of TVS is similar to that of MRI for the prediction of DMI and CSI in low-grade EEC, and TVS can play a role as a first-line imaging technique in the preoperative evaluation of low-grade EEC. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Application of an individualized nomogram in first-trimester screening for trisomy 21.

OBJECTIVES: To develop and validate a nomogram based on fetal nuchal translucency thickness (NT) and ultrasonographic facial markers for screening for trisomy 21 in the first trimester of pregnancy. METHODS: This was a retrospective case-control study using stored two-dimensional midsagittal fetal profile images captured at 11 + 0 to 13 + 6 weeks' gestation in singleton pregnancies. We included images from 302 trisomy-21 pregnancies and 322 euploid pregnancies. Cases were divided into a training set (200 euploid + 200 with trisomy 21) and a validation set (122 euploid + 102 with trisomy 21) at a ratio of approximately 2:1. For each, the maternal age, gestational age, fetal NT and karyotype were noted, and 12 ultrasonographic fetal facial markers were measured. The least absolute shrinkage and selection operator (LASSO) method and multivariable analysis were used to select automatically the discriminative markers. Logistic regression was used to develop a LASSO model, based on the selected markers, to screen for trisomy 21 in the first trimester of pregnancy. Furthermore, 60 of the 624 images were selected randomly as a retest set to evaluate the model's robustness. The predictive performance of screening for trisomy 21 of a model based on fetal NT and maternal age and of the LASSO model was assessed using the area under the receiver-operating-characteristics curve (AUC). A nomogram was developed as an individualized tool to predict patient-specific probability for trisomy 21, which is a more visual presentation of the LASSO model. The performance of the nomogram was assessed using the C-index and calibration curve. RESULTS: Into the LASSO model were incorporated eight markers, including fetal NT, prenasal-thickness-to-nasal-bone-length ratio, facial profile line, frontomaxillary facial angle, frontonasal facial angle, mandibulomaxillary facial angle, maxilla-nasion-mandible angle and d2 (distance between the anterior edge of the prefrontal skin and the mandibulomaxillary line) (all P < 0.05). The AUCs of the LASSO model for screening for trisomy 21 were 0.983 (95% CI, 0.971-0.994) in the training set and 0.979 (95% CI, 0.966-0.993) in the validation set, and these were higher than the AUCs of all eight individual ultrasonographic markers included in the model. The AUC of the LASSO model in the retest set was 0.997 (95% CI, 0.990-1.000), indicating good robustness of the LASSO model. The AUC of the LASSO model was significantly higher than that of the model based on fetal NT and maternal age in both training and validation sets (P < 0.001 for both). The nomogram of the LASSO model showed good discrimination of trisomy 21, with C-indices of 0.983 in the training set and 0.981 in the validation set. CONCLUSIONS: We present an individualized nomogram which incorporates fetal NT and a series of ultrasonographic facial profile markers selected by the LASSO method and multivariable analysis. This nomogram can potentially be utilized as a convenient and effective tool in screening for trisomy 21 in the first trimester of pregnancy. © 2020 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Long-term outcomes of cytologically benign thyroid tumors: a retrospective analysis of 3,102 patients at a single institution.

Some thyroid tumors that are cytologically diagnosed as benign may be pathologically diagnosed as malignant. Here, we investigated the long-term outcomes of patients with thyroid tumors with benign cytology, and the factors for malignancy. We retrospectively reviewed the cases of 3,102 patients with thyroid tumors >1 cm cytologically diagnosed as benign at our hospital during a 1-year period from January 2007. The median follow-up duration for all patients was 68.7 (range 0.0-168.7) months. Immediate surgery and delayed surgery were performed in 393 and 148 patients, respectively. Eventually, 541 (17.4%) of the 3,102 patients underwent a thyroidectomy, and 2,561 (82.6%) were observed without surgery. Among the surgically treated patients, the tumors of 525 (97.0%) and 16 (3.0%) were pathologically diagnosed as benign and malignant, respectively. There was no significant difference in age, gender, tumor size, serum thyroglobulin level at surgery, or the tumor volume-doubling rate (TV-DR) between the benign and malignant cases. Only the ultrasonographic findings based on our hospital's classification system were directly and significantly linked to pathological diagnosis (p < 0.01). Among the tumors of the 667 patients who were followed without surgery for >10 years, 89.9% remained unchanged and 7.2% were reduced in size. Ultrasonographic evaluation provides important information for therapeutic decision-making regarding surgery versus observation for cytologically benign tumors.

Ultrasonographic findings and prenatal diagnosis of complete trisomy 17p syndrome: A case report and review of the literature.

BACKGROUND: Trisomy of the short arm of chromosome 17 is a rare genomic disorder. The clinical features of complete trisomy 17p syndrome have been described. Most cases of this syndrome have been found in infants and children, but only a few cases were found by ultrasound in the prenatal period. METHODS: We report a case of complete trisomy 17p syndrome, which was inherited from paternal balanced translocation t(15;17)(q11.2;q11.2). A pregnant woman underwent an ultrasound examination at 24 weeks of gestation. Amniotic fluid was collected by amniocentesis. Cytogenetic and single nucleotide polymorphism array analyses were performed. We further reviewed the relationship between duplication regions and the clinical phenotype. RESULTS: Ultrasonographic evaluation showed intrauterine growth retardation and a right choroid plexus cyst, but the gallbladder was not observed. The fetal karyotype was 46,XX,der(17)t(15;17)(q11.2;q11.2)pat. The father's karyotype was 46,XY,t(15;17)(q11.2;q11.2). The single nucleotide polymorphism array results showed arr[GRCh37] 17p13.3q11.1(525-25309337)×3, which indicated a 25.309-Mb duplication. CONCLUSION: Complete trisomy 17p syndrome shows severe malformations. Intrauterine growth retardation is the most typical manifestation of this syndrome as shown by ultrasonography in the second trimester of pregnancy. The genotype-phenotype relationships of complete trisomy 17p syndrome are not completely consistent. To further determine these relationships, additional cases are necessary to provide more information from ultrasonographic findings during pregnancy.