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Background Accurate estimation of fetal weight is important for prenatal care and for detection of fetal growth abnormalities. Prediction of fetal weight entails the indirect measurement of fetal biometry by ultrasound that is then introduced into formulae to calculate the estimated fetal weight. The aim of our study was to evaluate the accuracy of fetal weight estimation of Chinese fetuses in the third trimester using an automated three-dimensional (3D) fractional limb volume model, and to compare this model with the traditional two-dimensional (2D) model. Methods Prospective 2D and 3D ultrasonography were performed among women with singleton pregnancies 7 days before delivery to obtain 2D data, including fetal biparietal diameter, abdominal circumference and femur length, as well as 3D data, including the fractional arm volume (AVol) and fractional thigh volume (TVol). The fetal weight was estimated using the 2D model and the 3D fractional limb volume model respectively. Percentage error was defined as (estimated fetal weight - actual birth weight) divided by actual birth weight and multiplied by 100. Systematic errors (accuracy) were evaluated as the mean percentage error (MPE). Random errors (precision) were calculated as ±1 SD of percentage error. The intraclass correlation coefficient (ICC) was used to analyze the inter-observer reliability of the 3D ultrasound measurements of fractional limb volume. Results Ultrasound examination was performed on 56 fetuses at 39.6 ± 1.4 weeks’ gestation. The average birth weight of the newborns was 3393 ± 530 g. The average fetal weight estimated by the 2D model was 3478 ± 467 g, and the MPE was 3.2 ± 8.9. The average fetal weights estimated by AVol and TVol of the 3D model were 3268 ± 467 g and 3250 ± 485 g, respectively, and the MPEs were − 3.3 ± 6.6 and − 3.9 ± 6.1, respectively. For the 3D TVol model, the proportion of fetuses with estimated error ≤ 5% was significantly higher than that of the 2D model (55.4% vs. 33.9%, p p p Conclusion In this cohort, the automated 3D fractional limb volume model improves the accuracy of weight estimation in most third-trimester fetuses. Prediction accuracy of the 3D model for neonatal BW, particularly

Background: To develop an ultrasonographic dating formula for predicting gestational age (GA) based on fetal crown–rump length (CRL) in a Chinese population, evaluate its systematic prediction error and compare it with existing formulae.Methods: This was a prospective cross-sectional study of spontaneously conceived singleton pregnancies among women with a regular menstrual cycle in the preceding year. Ultrasound examinations were performed at 11–14 weeks according to the date of the last menstrual cycle. The CRL was measured three times for each fetus, and the mean was used to derive the best-fit fractional polynomial regression model for estimation of GA in relation to CRL. For each fetus, the GA was compared with the GA calculated using six established dating formulae based on CRL measurements. The means of the differences between estimated and menstrual age were calculated for each formula. All the women were followed up routinely until the birth of the fetus. Results: Of the 4710 subjects recruited, the mean and standard deviation values of CRL changed linearly with GA. The corresponding regression equation and its correlation coefficient (R2) was GA = 59.361513 + 0.461425 ´ CRL (R2 = 0.8028). The mean difference between estimated and menstrual age was 0.22 days (95% confidence interval 0.05–0.21), lower than that of the six existing CRL dating formulae.Conclusions: We have derived a CRL-based dating formula suitable for naturally conceived pregnancies for GA between 11+0 and 13+6 weeks. The formula has no systematic prediction error, comparing favorably with the existing published dating formulae.

To identify and understand parathyroid lesions of patients with primary hyperparathyroidism (PHPT) more accurately under ultrasound.This retrospective study involved 423 adult patients with PHPT with a single parathyroid nodule and positive parathyroid ultrasonography between 2018 and 2019. The clinical characteristics of the study patients and histopathologic sections were reviewed.According to the main grayscale echogenicity features of parathyroid nodules, 423 cases were divided into groups: iso-hyperechogenicity solid (61/423), hypoechogenicity solid (304/423), and mixed-echogenicity cyst-solid (58/423) groups. Comparison among the 3 groups showed that the iso-hyperechogenicity group included more asymptomatic patients with PHPT and fewer patients with severe symptoms like bone fractures (P.05). The mixed-echogenicity group showed higher median serum parathyroid hormone (PTH) and serum calcium levels and larger lesion sizes (P.05), and the iso-hyperechogenicity group showed the lowest median serum PTH level. No difference in lesion size was noted between the 2 solid groups, but the median serum PTH level in the hypoechogenicity group was higher than that in the iso-hyperechogenicity group (P.05). According to histopathology, the hypoechogenic area of the samples may contain more functional components (chief cells), whereas the iso-hyperechogenic area has more nonfunctional components (eg, lipocytes and connective tissues).The PHPT nodules distinguished by ultrasound echogenicity features showed different histopathologic components, reflected by different clinical characteristics of the patients with PHPT.

The routine assessment to determine the genetic etiology for fetal ultrasound anomalies follows a sequential approach, which usually takes about 6&ndash, 8 weeks turnaround time (TAT). We evaluated the clinical utility of simultaneous detection of copy number variations (CNVs) and single nucleotide variants (SNVs)/small insertion-deletions (indels) in fetuses with a normal karyotype with ultrasound anomalies. We performed CNV detection by chromosomal microarray analysis (CMA) or low pass CNV-sequencing (CNV-seq), and in parallel SNVs/indels detection by trio-based clinical exome sequencing (CES) or whole exome sequencing (WES). Eight-three singleton pregnancies with a normal fetal karyotype were enrolled in this prospective observational study. Pathogenic or likely pathogenic variations were identified in 30 cases (CNVs in 3 cases, SNVs/indels in 27 cases), indicating an overall molecular diagnostic rate of 36.1% (30/83). Two cases had both a CNV of uncertain significance (VOUS) and likely pathogenic SNV, and one case carried both a VOUS CNV and an SNV. We demonstrated that simultaneous analysis of CNVs and SNVs/indels can improve the diagnostic yield of prenatal diagnosis with shortened reporting time, namely, 2&ndash, 3 weeks. Due to the relatively long TAT for sequential procedure for prenatal genetic diagnosis, as well as recent sequencing technology advancements, it is clinically necessary to consider the simultaneous evaluation of CNVs and SNVs/indels to enhance the diagnostic yield and timely TAT, especially for cases in the late second trimester or third trimester.

Purpose: The purpose of this study was to compare the diagnostic performance of breast lesions between deep learning-based computer-aided diagnosis (deep learning-based CAD) system and experienced radiologists and to compare the performance between symptomatic and asymptomatic patients. Methods: From January to December 2018, a total of 451 breast lesions in 389 consecutive patients were examined (mean age 46.86 ± 13.03 years, range 19-84 years) by both ultrasound and deep learning-based CAD system, all of which were biopsied, and the pathological results were obtained. The lesions were diagnosed by two experienced radiologists according to the fifth edition Breast Imaging Reporting and Data System (BI-RADS). The final deep learning-based CAD assessments were dichotomized as possibly benign or possibly malignant. The diagnostic performances of the radiologists and deep learning-based CAD were calculated and compared for asymptomatic patients and symptomatic patients. Results: There were 206 asymptomatic screening patients with 235 lesions (mean age 45.06 ± 10.90 years, range 21-73 years) and 183 symptomatic patients with 216 lesions (mean age 50.03 ± 14.97 years, range 19-84 years). The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), accuracy and area under the receiver operating characteristic curve (AUC) of the deep learning-based CAD in asymptomatic patients were 93.8, 83.9, 75.0, 96.3, 87.2, and 0.89%, respectively. In asymptomatic patients, the specificity (83.9 vs. 66.5%, p < 0.001), PPV (75.0 vs. 59.4%, p = 0.013), accuracy (87.2 vs. 76.2%, p = 0.002) and AUC (0.89 to 0.81, p = 0.0013) of CAD were all significantly higher than those of the experienced radiologists. The sensitivity (93.8 vs. 80.0%), specificity (83.9 vs. 61.8%,), accuracy (87.2 vs. 73.6%) and AUC (0.89 vs. 0.71) of CAD were all higher for asymptomatic patients than for symptomatic patients. If the BI-RADS 4a lesions diagnosed by the radiologists in asymptomatic patients were downgraded to BI-RADS 3 according to the CAD, then 54.8% (23/42) of the lesions would avoid biopsy without missing the malignancy. Conclusion: The deep learning-based CAD system had better performance in asymptomatic patients than in symptomatic patients and could be a promising complementary tool to ultrasound for increasing diagnostic specificity and avoiding unnecessary biopsies in asymptomatic screening patients.

Rationale: The significant ultrasonic characteristics of amniotic band syndrome (ABS) are the malformations of fetal affected parts and the band—like echoes in amniotic cavity. This article first suggests that the fetal hand adhered to umbilical cord with restricted movement provides some values in the diagnosis of ABS in early gestational weeks especially when the fetal malformation is not obvious and amniotic band is thin and fine. Patient concerns: Two pregnant women had no discomfort and underwent routine ultrasound examination at 11 to 14 gestational weeks. Diagnosis: Only the fetal hand adhered to umbilical cord with restricted movement was detected during the first ultrasound examination at 11∼14 gestational weeks, and the floating band-like echos were detected in the amniotic cavity with follow-up examinations 2 to 3 weeks later. Both of the 2 fetus were diagnosed as ABS by ultrasound Interventions: The two pregnant women underwent the prenatal counseling and were recommended closely follow-up and further examination. Outcomes: Two fetuses died in utero between 17 and 19 weeks. After induction of labor, it was found that the hands and umbilical cord of the fetuses were wrapped by amniotic bands, which was proved pathologically as ABS. Lessons: The adhesion of the fetal hand and umbilical cord is an important ultrasonic sign suggesting ABS with poor prognosis in early pregnancy. We hope that this study can provide some guidance for the early diagnosis of ABS during 11 to 14 week's ultrasound examination.

Rationale: We report a case of fetal lingual cyst that was diagnosed prenatally using 2-dimensional and 3-dimensional images during routine second trimester screening. To the best of our knowledge, this is the first description of a cystic lesion disappearing before birth. Patient concerns: A 36-year-old woman at 22 weeks’ gestation showed the presence of an oral cystic lesion in routine second trimester ultrasound screening. The lesion measured 18 × 15 × 15 mm. Interventions: A follow-up ultrasound examination was performed every 4 to 6 weeks. Outcomes: The cyst disappeared in a follow-up ultrasound examination at 35 and 37 weeks of gestation. A male newborn who weighed 3480 g was delivered with no feeding difficulties. The boy was followed to 6 years after birth. The child had normal growth and development, and there was no recurrence of the cyst. Lessons: Prenatally diagnosed lingual cysts are uncommon findings that can include many different pathologies with a wide spectrum of severity. Lingual cysts usually have a good prognosis.

Background X-linked dominant protoporphyria (XLDPP) is a rare, hereditary disorder that leads to hepatobiliary and hematologic abnormalities including increased erythrocyte protoporphyrin, cutaneous photosensitivity, and decreased iron stores that is caused by a pathogenic mutation of ALAS2 gene. Methods This study aimed to confirm the existence of XLDPP in a Chinese pedigree. We observed and described the dermatoscopic findings of this disorder under dermoscopy, and assessed photo damage in XLDPP patients using the Fotofinder system and very high frequency (VHF) skin ultrasonic system. We performed next generation sequencing and Sanger sequencing to detect and confirm genetic variants in DNA samples from the XLDPP family. Moreover, we monitored the hepatobiliary function as well as hematologic changes in related family members. Results As compared to unaffected control subjects, patients exhibited evidence of severe cutaneous photodamage, causing photoaging, an increase in the size of the gallbladder, increased levels of protoporphyrin in red blood cells, an increase in blood levels of uroporphyrin and hematoporphyrin, and iron deficiency. Conclusions XLDPP was validated by the identification of a four-base-pair deletion (c.1706_1709delAGTG, p.E569fs) in ALAS2 (NM_000032.4) in the proband which segregated with the disease in an X-linked dominant pattern, with hemizygous males being more severely affected than heterozygous females. We also found a missense variant in GATA Binding Protein 1 (GATA1).

Fetal adducted thumbs have been described in association with hydrocephalus and other abnormalities, but in cases without other structural malformations the determination of prognosis and recurrence risk is challenging. The aim of our study is to analyze the characteristics, natural history, and postnatal outcome of such cases. A retrospective study was conducted over a period of 4 years in a tertiary referral center. All fetuses diagnosed as adducted thumbs without other structural malformations comprised the study group. Prenatal sonographic features and neonatal outcome are documented. There were 4 cases of fetal adducted thumbs diagnosed during the study period. No cases demonstrated other structural malformations throughout the gestation. A smaller head was noted in 2 cases during the follow-up, and all cases presented with polyhydramnios on the first or ensuing scans. Three cases died after birth due to swallowing or breathing difficulty, and the surviving 1 showed convulsion and mental retardation. Fetal adducted thumb might be an early and specific sonographic marker of impaired neurodevelopment. Close follow-up and genetic investigation should be performed in these cases. Ultrasound examination plays an important role in the prenatal diagnosis and counseling of cases without detailed prenatal genetic analysis.

This study aimed to construct new reference charts and equations for fetal biometry from Chinese fetuses at 15-40 weeks and to compare them with previous references.This was a prospective, cross-sectional study of singleton pregnancies in patients with a confirmed gestational age who underwent ultrasound examinations between the 15th and 40th weeks of gestation. Each woman was selected only once for this study. Biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), and femur length (FL) were recorded. For each measurement, separate regression models were fitted to estimate the mean and standard deviation at each menstrual age. Z-scores were calculated with our reference equations for comparison with other references.New charts and reference equations involving 7553 Chinese women were created for BPD, HC, AC, and FL. Reference equations were cubic models. Prediction intervals for the new reference charts were similar to those of previous references, but with some slight differences. The main difference in our fetal biometric measurements compared with those of Korea and Hong Kong was the FL.We report new Chinese reference charts and equations for fetal biometry. These reference charts and equations are available for clinical use in obstetric ultrasound studies for the Chinese population.

Objectives To determine the feasibility and reliability of using xPlane imaging to examine simultaneously the four-chamber and left ventricular outflow tract (LVOT) views in real time, to assess rotation angles from the four-chamber view to the LVOT view, and to investigate factors affecting the angles. Methods In 145 fetuses at 11–37 weeks' gestation, we visualized the four-chamber view in one of three cardiac positions: a subcostal view with the apex at the 3 or 9 o'clock position; an apical view with the apex at the 12 or 6 o'clock position; or a view with the fetal heart apex midway between these two positions. We then used the rotation function of xPlane imaging, using the four-chamber view as the reference plane, to visualize the LVOT view simultaneously in real time on the secondary image plane, on the right side of the split screen, by rotating a reference line from 0° with a rotation step of 5°. The rotation angle necessary for the first appearance of LVOT was recorded as the first rotation angle. The reference line was then rotated until the LVOT was just out of view, and this last rotation angle was recorded as the second rotation angle. The difference between these two angles was recorded as the angle span of the LVOT display. Reliability was assessed by intraclass correlation coefficient (ICC). Results Of the 145 fetuses examined, 29 had cardiac defects. Using xPlane imaging, the LVOT was visualized successfully after 14 weeks in 95.1% of cases. The first and second rotation angles varied significantly with cardiac position (P < 0.001); when the fetal heart was examined using a subcostal approach with the apex at the 3 or 9 o'clock position, the first rotation angle was smaller than that at the apical view for normal hearts (20° vs. 50°, P < 0.001). There was also a significant difference for the second rotation angle and for the angle span, between fetuses with and without normal LVOT (P = 0.038 and 0.006, respectively). Regarding intra- and interobserver reliability for measurement of first and second rotation angles, the ICCs were high (range, 0.847–0.980). Conclusion Using xPlane imaging, it is feasible to examine simultaneously the four-chamber and LVOT views in real time, and measurement of the rotation angles between these two views is reproducible. The rotation angles depend on the position of the fetal heart, and the normality of the LVOT. Proposed algorithms for examination of the fetal heart with three-/four-dimensional ultrasonography may need to be adapted to optimize visualization of the standard planes. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

Introduction: Complete non-mosaic trisomy 22 is a fatal chromosomal disorder that only few fetuses can survive over 12 weeks as reported. Prenatal sonographic findings combined with postnatal or postmortem discoveries showed characteristic multi-systematic anomalies. Patient concerns: The unborn baby of a 35-year-old pregnant woman was found to have several anomalies during a prenatal sonographic scan, including intrauterine growth retardation, ventricular septal defect, flat facial profile, and unclear bilateral kidney structures. Diagnoses: The fetus was diagnosed as having complete non-mosaic trisomy 22 by chromosomal analysis. Interventions: The pregnancy was terminated at 24 weeks, and autopsy was permitted. Outcomes: Postmortem examinations revealed additional long-sectional spina bifida occulta and imperforate anus. Conclusions: This was the first time a case of spinal cord defect was reported in trisomy 22 fetuses. More attention should be paid to the spinal cord during sonographic examinations in trisomy 22 fetuses.

ObjectiveThe purpose of this study was to determine the values of the hemodynamic parameters of Doppler sonography in the diagnosis of renal artery stenosis (RAS) (diameter reduction ≥50%) and to investigate their possible influencing factors.MethodsFive Doppler parameters, including renal peak systolic velocity (RPSV), renal-aortic ratio (RAR), renal-renal ratio (RRR), renal-segmental ratio (RSR), and renal-interlobar ratio (RIR), were measured in 81 patients before arteriography. Arteries with ≥50% diameter reduction were considered stenosed at renal arteriography. Receiver operating characteristic curve analysis was performed to determine the optimal parameters. The sensitivity, specificity, positive and negative predictive values, and accuracy at various threshold values were calculated.ResultsSixteen accessory renal arteries (15 normal, one mild stenosis) were identified at arteriography. Of the 153 main renal arteries demonstrated at arteriography, 79 were normal or demonstrated stenosis

Objective This study aimed to evaluate the value of color Doppler sonography (CDS) in the diagnosis of acute renal artery thrombosis or embolism (ARATE). Methods We retrospectively reviewed the CDS findings of 10 patients with ARATE, which were confirmed by the clinical data and digital subtraction angiography or computed tomography (n=8) or by the results of surgical pathology (n=2). We analyzed the echogenicity and size of the kidneys on gray-scale images and blood flow parameters of the main renal artery, renal vein, and the intrarenal artery (segmental or interlobar artery) of the kidneys on CDS in all cases. Results Four patients with acute main renal artery thrombosis (two transplanted kidneys and two native kidneys) correctly detected by CDS underwent emergency thrombolysis via renal artery. The results of CDS in six native kidneys with renal artery embolism included two cases with satisfactory CDS demonstrations, two cases with undetermined CDS findings, one case interpreted as severe renal artery stenosis, and one misdiagnosed case. Conclusions CDS is a useful imaging tool in the diagnosis of large renal infarcts caused by thrombosis or embolism in the main renal artery. However, small infarcts, which need other imaging modalities for further evaluation and confirmation, may be neglected by CDS.