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The real-time, precise qualitative and quantitative sensing of food flavor compounds is crucial for ensuring food safety, quality, and consumer acceptance. As indicators for food flavor labeling, it is vital to delve deep into the specific ingredient and content of food flavor compounds to assess the food flavor quality, but still facing huge challenges. Photoluminescent fluorescent probe technology, with fast detection and high sensitivity, has shown immense potentials in detecting food flavor compounds. In this review, the classification and optical sensing mechanism of photoluminescent fluorescent probe technology are described in detail. Besides, challenges in applying photoluminescent fluorescent probe technology to analyze food flavor compounds are outlined to indicate future research directions. We hope this review can provide an insight for the applications of photoluminescent fluorescent probe technology in the evaluation of food flavor quality in future.

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The fluorescent flexible sensor for point-of-care quantification of clinical anticoagulant drug, Heparin (Hep), is still an urgent need of breakthrough. In this research, a hyperbranched poly(amido amine) (HPA) was decorated with tetraphenylethene (TPE) and Rhodamine B (RhB), constructing a ratiometric fluorescent sensor (TR-HPA) for Hep. When the sensor was exposed to Hep, the TPE units within the probe skeleton would aggregate, resulting in an increasing fluorescent emission at 483 nm. The 580 nm of fluorescence came from RhB enhance, simultaneously, due to the fluorescence resonance energy transfer. As a result, there are two good linear correlation between the fluorescence emission ratio (E483/E580) of TR-HPA and the Hep concentration over a range of 0-1.0 µM, with a low limit of detection of 3.0 nM. Furthermore, we incorporate the TR-HPA probe into a polyvinyl alcohol (PVA) hydrogel matrix to create a flexible fluorescent sensing system platform, denoted as TR-HPA/PVA. This approach offers a straightforward visual detection method by causing a fluorescence color change from pink to blue when trace amounts of Hep are present. The hydrogel-based fluorescent sensor streamlines the detection procedures for Hep in biomedical applications. It shows great potential in rapid and point-of-care human blood clotting condition monitoring, making it suitable for next-generation wearable medical devices.

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PURPOSE: To describe the prenatal ultrasonographic characteristics and perinatal outcomes of congenital cataract. MATERIALS AND METHODS: We analyzed congenital cataract diagnosed prenatally at four referral centers between August 2004 and February 2019. The diagnosis was confirmed by postnatal ophthalmologic evaluation of liveborn infants or autopsy for terminated cases. Maternal demographics, genetic testing results, prenatal ultrasound images, and perinatal outcomes were abstracted. RESULTS: Total of 41 cases of congenital cataract diagnosed prenatally among 788 751 women undergoing anatomic survey. Based on the sonographic characteristics, 16/41 (39.0 %) had a dense echogenic structure, 15/41 (36.6 %) had a hyperechogenic spot and 10/41 (24.4 %) had the "double ring" sign. 17/41 (41.5 %) were isolated, and 24/41 (58.5 %) had associated intraocular and extraocular findings. Microphthalmia, cardiac abnormalities, and central nervous system abnormalities were the most common associated abnormalities. Regarding potential etiology, 6 cases had a known family history of congenital cataract, 4 cases had confirmed congenital rubella infection, and 2 cases had aneuploidy. 31/41 (75.6 %) elected termination and 10/41 (24.4 %) elected to continue their pregnancy. Among the 10 cases, one case died, one case was lost to follow-up, and the remaining 8 cases were referred for ophthalmologist follow-up and postnatal surgery. CONCLUSION: Once fetal cataracts are detected, a detailed fetal anatomy survey to rule out associated abnormalities and a workup to identify the potential etiology are recommended. Prenatal diagnosis of congenital cataracts provides vital information for counseling and subsequent management.

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Accurate placenta super micro-vessels segmentation is the key to diagnose placental diseases. However, the current automatic segmentation algorithm has issues of information redundancy and low information utilization, which reduces the segmentation accuracy. To solve this problem, we propose a model based on ResNeXt with convolutional block attention module (CBAM) and UNet (RC-UNet) for placental super micro-vessels segmentation. In the RC-UNet model, we choose the UNet as the backbone network for initial feature extraction. At the same time, we select ResNeXt-CBAM as the attention module for feature refinement and weighting. Specifically, we stack the blocks of the same topology following the split-transform-merge strategy to reduce the redundancy of hyperparameter. Moreover, we conduct CBAM processing on each group of the detailed features to get informative features and suppress unnecessary features, which improve the information utilization. The experiments on the self-collected data show that the proposed algorithm has better segmentation results for anatomical structures (umbilical cord blood (UC), stem villus (ST), maternal blood (MA)) than other selected algorithms.

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OBJECTIVES: This study aimed to determine the sensitivity of a first-trimester routine scan in detecting spina bifida (SB) and evaluating the first-trimester intracranial signs. METHODS: This retrospective study was a review of a prospectively collected database. All cases of SB diagnosed in a tertiary center from 2008 to 2015 were identified. The ultrasound images and medical records were reviewed. All cases of SB diagnosed prenatally were confirmed at birth or autopsy. RESULTS: A total of 24 cases of SB were diagnosed from 53,349 pregnancy cases. Except for 10 cases with a body stalk anomaly, craniorachischisis, or iniencephaly, 7 cases with open spina bifida (OSB) and 7 cases with closed spina bifida (CSB) were analyzed. The first-trimester detection rates were 100% (7 of 7) for OSB and 28.5% (2 of 7) for CSB. Eight cases were highly suspected of SB in the first trimester because of an abnormal appearance of the posterior brain; 3 were false-positive cases. Two isolated cases of OSB had first-trimester intracranial signs. An obliterated cisterna magna (CM) showed the highest sensitivity for OSB but low specificity. Two cases of OSB had no discernible landmark of intracranial translucency and the CM, and 4 showed normal intracranial translucency with an obliterated CM. All CSB cases were coupled with a normal hind brain except for 2 cases. CONCLUSIONS: A first-trimester routine scan has high sensitivity in screening for OSB. The CM may be the most sensitive intracranial sign.

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BACKGROUND: Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is mainly characterized by shortening or missing of the middle phalanges. In this study, Our purpose is to identify the pathogenic variations associated with BDA-1 involved in a five-generation Chinese family. METHODS: A BDA-1 family with 8 affected and 14 unaffected family members was recruited. Whole exome sequencing (WES) was performed to identify the pathogenic variant in the proband, and which was later confirmed and segregated by Sanger sequencing. The significance of variants were assessed using several molecular and bioinformatics analysis methods. RESULTS: We uncovered a novel heterozygous missense variant c.299A > G (p.D100G) at the mutational hotspot of IHH gene following whole-exome sequencing of a Chinese family with BDA-1. The variant co-segregated with BDA-1 in the pedigree, showed 100% penetrance for phalange phenotype with variable expressivity. CONCLUSIONS: In conclusion, this study reports a five-generation Chinese family with BDA-1 due to a novel pathogenic variant (c.299A > G (p.D100G)) of IHH and expands the clinical and genetic spectrum of BDA-1.

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Persistent truncus arteriosus (PTA) is a relatively uncommon congenital heart disease, accounting for approximately 0.7-1.4% of all congenital cardiac abnormalities worldwide. PTA is usually accompanied by a single semilunar valve, with leaflets ranging from one to six in number. However, absent semilunar valve (ASV) is rarely seen in PTA. Here, we report a case of prenatally diagnosed PTA accompanied by ASV (PTA-ASV) confirmed by postmortem autopsy.

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The traditional classification of congenital aortic arch abnormalities was described by James Stewart and colleagues in 1964. Since that time, advances in diagnostic imaging technology have led to better delineation of the vasculature anatomy and the identification of previously unrecognized and unclassified anomalies. In this manuscript, we review the existing literature and propose a series of modifications to the original Stewart classification of congenital aortic arch abnormalities to incorporate this new knowledge. In brief, we propose the following modifications: (1) In Group I, we further divide subgroup B into left arch atretic and right arch atretic; (2) In Group II, we add three more subgroups, including aberrant right innominate artery, "isolated" right innominate artery (RIA), "isolated" right carotid artery with aberrant right subclavian artery; (3) In Groups I, II, and III, we add a subgroup of absence of both ductus arteriosus; and (4) In Group IV, we add three subgroups, including circumflex retro-esophageal aorta arch, persistent V aortic arch, and anomalous origin of pulmonary artery from ascending aorta.

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Hb Bart's hydrops fetalis is the most severe and generally fatal clinical phenotype of α-thalassemia (α-thal), which is due to the deletion of all four functional α-globin genes of hemoglobin (Hb), resulting in no α-globin chain production (- -/- -). Homozygosity for the - -SEA (Southeast Asian) α-globin gene deletion is the main cause of the Hb Bart's hydrops fetalis in Asia, especially South China. Occasionally, other α0-thal deletions can also be found. In this study, we report a case with an atypical form of Hb Bart's hydrops fetalis that was caused by - -SEA and a large novel α0-thal deletion (- -GX) (Guangxi). The fetus with Hb Bart's in our study presented fetal hydrops features in early gestation which was different from that of traditional Hb Bart's hydrops fetalis with a homozygous - -SEA deletion. The early onset of fetal hydrops is attributed to the decreased formation of embryonic Hb Portland (ζ2γ2), which is proposed as a candidate for reactivation in cases of severe α-thal. Our findings indicated that it was important to characterize new or rare mutations, and highlighted the significance of using ultrasonography to identify signs of Hb Bart's hydrops fetalis.

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OBJECTIVE: To evaluate the efficacy of using fetal heart size measurements derived from axial echocardiography to predict homozygous α-thalassemia-1. DESIGN: Prospective diagnostic study. SETTING: The carrier rate of α-thalassemia-1 (-/αα) in China's Guangxi Zhuang Autonomous Region is approximately 15%. If both parents are carriers, the risk of homozygous α-thalassemia-1 in one pregnancy is 25%. PATIENTS: Singleton mid-pregnancies at risk of homozygous α-thalassemia-1 were enrolled. OUTCOME MEASURES: Fetal heart measurements, including heart diameter (HD), heart length (HL), heart circumference (HC), and heart area (HA), were measured. The z-scores for these heart parameters were then calculated separately based on previously constructed z-score models. Finally, the accuracy of these predictive variables was analyzed and compared to that achieved by cardiothoracic ratio (CTR) using a receiver operating characteristic (ROC) curves analysis. RESULTS: A total of 214 singleton pregnancies were recruited. The discriminatory power of HA and HD z-scores was better (z-test P< .01) while that of HC and HL z-scores was comparable to (z-test P>.05) that of CTR. HD combined with HA z-scores had the highest sensitivity (100%), and the specificity of HD and/or HA z-scores was 100%. CONCLUSION: Fetal heart size measurements are novel, effective and noninvasive predictors of homozygosity for α-thalassemia-1 in mid-pregnancy. The discriminatory power of HD and HA z-scores was better than while that of HC and HL z-scores was comparable to that of CTR. Further investigation is needed to understand the effectiveness of these predictors.

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Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare complex congenital heart defect. Major artery-pulmonary collateral arteries (MAPCAs) are characteristic of PA-VSD. Prenatal diagnosis can be achieved in most cases of PA-VSD with recent advances in echocardiography. However, it is extremely rare that all MAPCAs can be observed on the echocardiograph. Here, we report a case of prenatally diagnosed type C PA-VSD in which all the MAPCAs could be seen on the echocardiograph, with the diagnosis supported by autopsy evidence.

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CONTEXT: Several studies have investigated the association between heavy metal exposure and congenital heart defects (CHDs). However, there are limited data regarding the relationship between barium exposure and the occurrence of CHDs. The objective of this study was to analyze the association between barium exposure in mothers and the risk of CHD in offspring. MATERIALS AND METHODS: We developed a case-control study with 399 cases and 490 controls with normal live births in China. The concentrations of barium in hair of pregnant woman and fetal placenta were measured. We used a logistic regression analysis to explore the association between barium exposure and the risk of CHD. RESULTS: Logistic regression analysis indicated that the median concentration of barium in maternal hair in the CHD group was 4.180 ng/mg (adjusted odds ratio [aOR], 1.230; 95% confidence interval [CI], 1.146-1.321; p < .001), which was significantly higher than that in the control group (2.740 ng/mg). Furthermore, the median concentration of barium in fetal placental tissue in the CHD group was 0.617 ng/mg, while that in the control group was 0.447 ng/mg (aOR, 1.392; 95% CI, 1.074-1.659; p = .003). Significant differences in the concentration of barium in hair were also found between the different CHD subtypes and the controls. These differences were found in cases with septal defects (p < .001), conotruncal defects (p < .001), right ventricular outflow track obstruction (p < .001), left ventricular outflow track obstruction (p < .001), and anomalous pulmonary venous return (p = .010). Significantly different barium concentrations in fetal tissue were only found in cases with septal defects (p = .010). CONCLUSIONS: Maternal barium exposure was dose-dependently related to the risk of CHD in the offspring. Our findings suggest that the occurrence of some subtypes of CHD is associated with barium exposure.

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Objective This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China. Methods All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and analyzed. Results Total 482 cases of NIHF were identified during the study period. The most common cause of NIHF was hemoglobin (Hb) Bart's disease (61.8%), followed by chromosomal abnormalities (13.5%), idiopathic etiology (13.1%), cardiac abnormalities (6.4%), and others (5.2%). After 20 weeks' gestation, a total of 408 cases of NIHF presented, including Hb Bart's disease (279 cases), cardiac abnormalities (27 cases), and infection (7 cases). NIHF caused by chromosomal abnormalities mainly presented between 15 and 19 weeks' gestation. Of the 482 cases, 459 cases elected termination of pregnancy. The remaining 23 cases elected to continue their pregnancy. Among them, 14 (60.9%) resulted in intrauterine fetal death, 6 had neonatal death, 3 infants survived to 1 year of age. Of the three infants, one has cerebral palsy, and the remaining two are normal. Conclusions Hb Bart's disease is the most common cause of NIHF in Southern China. An effective prenatal screening and counseling program for thalassemia in this region may be the most effective way to lower the incidence NIHF.

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BACKGROUND: Fetal brain development is a complicated process that continues throughout pregnancy. Fetal sulcus development has typical morphological features. Assessment of fetal sulcus development to understand the cortical maturation and development by prenatal ultrasound has become widespread. This study aimed to explore a reliable method to assess cortical sulcus and to describe the normal sonographic features of cortical sulcus development in the human fetus between 18 and 41 weeks of gestation. METHODS: A cross-sectional study was designed to examine the fetal cortical sulcus development at 18-41 weeks of gestation. Ultrasound was used to examine the insula, sylvian fissure (SF), parieto-occipital fissure (POF), and calcarine fissure (CF). Bland-Altman plots were used for assessing the concordance, and the intraclass correlation coefficient was used for assessing the reliability. RESULTS: SF images were successfully obtained in 100% of participants at 22 weeks of gestation, while the POF images and CF images could be obtained in 100% at 23 weeks of gestation and 24 weeks of gestation, respectively. The SF width, temporal lobe depth, POF depth, and the CF depth increased with the developed gestation. The width of uncovered insula and the POF angle decreased with the developed gestation. By 23 weeks of gestation, the insula was beginning to be covered. Moreover, it completed at 35 weeks of gestation. The intra- and inter-observer agreements showed consistent reproducibility. CONCLUSIONS: This study defined standard views of the fetal sulcus as well as the normal reference ranges of these sulcus measurements between 18 and 41 weeks of gestation. Such ultrasonographic measurements could be used to identify fetuses at risk of fetal neurological structural disorders.

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OBJECTIVE: To evaluate the accuracy of oblique view extended imaging (OVEI) in locating the position of the fetal conus medullaris. METHODS: One hundred and twenty-two normal fetuses and five counterparts with spinal bifida received prenatal ultrasound examination. The vertebral body at the terminal of the conus medullaris and the coronal section of over five vertebral bodies were reconstructed using OVEI. Development of the nervous system of normal fetuses was assessed at postnatal day 28. For spinal bifida cases, pathological examination was performed. RESULTS: Among 127 fetuses, the conus medullaris was accurately positioned in 120 (94.0%) cases according to OVEI. OVEI failed to locate the conus medullaris in three healthy fetuses due to obesity of the mother and four cases with spinal bifida due to abnormal fetal position. The conus medullaris was located at L3 or above in 115 healthy fetuses. The conus medullaris was positioned below L4 in five fetuses with spinal bifida, including L5 in two, S1 in two, and S3 in one, which was consistent with the findings of pathological examination. CONCLUSIONS: OVEI can display the 12th rib, T12, and conus medullaris simultaneously. OVEI is applicable to precisely locate the position of the conus medullaris and useful for prenatal evaluation of spinal bifida.

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We report a case in which Berry syndrome is diagnosed by fetal echocardiography. Fetal echocardiography showed that the ascending aorta, main pulmonary artery, left pulmonary artery, and right pulmonary artery were presented as a vascular complexity in the three vessels and pulmonary arterial branches view.

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Hair arsenic and cadmium from 339 women with congenital heart defect (CHD)-affected pregnancies (case women) and 333 women with normal live births (control women) in China were estimated using inductively coupled plasma mass spectrometry. The median levels of hair arsenic and cadmium in the case women were 98.30 (74.30-136.30)ng/g and 14.60 (8.30-32.50)ng/g, respectively, which were significantly higher than the levels in the control group (P<0.05). Arsenic concentrations ≥62.03ng/g were associated with increased risk for almost every CHD subtype, with a dose-response relationship. However, only the group with the highest cadmium levels (≥25.85ng/g) displayed an increased risk of CHDs (AOR 1.96; 95% CI 1.24-3.09), with a 2.81-fold increase found for the occurrence of conotruncal defects in their offspring. Furthermore, an interaction between arsenic and cadmium was observed. Our findings suggest that maternal exposure to arsenic and cadmium may be a significant risk factor for CHDs in offspring. Cadmium may have an enhancing effect on the association between arsenic and the risk of CHDs in offspring.

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OBJECTIVE: We aim to determine the accuracy of first-trimester ultrasonography in detecting fetal limb abnormalities. METHODS: This is a retrospective study of all women undergoing fetal nuchal translucency (NT) assessment and detailed fetal anatomic survey in the first trimester at a single tertiary-care referral center in China. Fetal anatomy scans were repeated in the second trimester. Detection of fetal limb abnormalities was compared between first and second trimester anatomy scans and confirmed at delivery or at autopsy. RESULTS: Analyzed were 9438 fetuses from 9197 women (241 twin pairs). The incidence of fetal limb abnormalities was 0.38% (36/9438). Of these, 28 (77.8%) were diagnosed prenatally: 23 (63.9%) on first trimester scan and 5 (13.9%) on second trimester scan. Limb reduction defects (usually transverse limb deficiencies) were the most common limb defects identified in the first trimester (n = 12), followed by clubfoot (n = 4), skeletal dysplasia (n = 3), sirenomelia (n = 1), limb dysplasia (n = 1), malposition (n = 1), and syndactyly (n = 1). Nine fetuses with isolated limb abnormalities had normal NT, while 74.1% (20/27) of limb abnormalities that were associated with other abnormalities had increased NT. CONCLUSIONS: This study demonstrates that the majority of limb abnormalities detected prenatally [23/28 (82%)] can be identified in the first trimester, especially major limb defects; however, our numbers are small and still need larger cases for further investigation.

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BACKGROUND: Aluminum (Al) is the third most common element in the earth' s crust and has been reported to be teratogenic. However, there is lack of understanding about the association between maternal aluminum exposure and the risks of birth defects such as congenital heart defects (CHDs). METHODS: A multi-center, hospital-based case-control study was performed at four maternal and child tertiary hospitals in China. A total of 223 cases with CHDs and 223 controls without any abnormalities were recruited according to the inclusion and matching criteria. Hair samples were prepared and measured by inductively coupled plasma mass spectrometry (ICP-MS). The correlation between CHDs and maternal aluminum concentrations was estimated by a 1:1 conditional logistic regression. RESULTS: The geometric mean and median of hair aluminum levels in isolated or multiple CHD cases was significantly higher than in controls (p < 0.05). A significant association was found between increased hair aluminum concentrations and the risk of total CHDs in offspring (adjusted odds ration [aOR], 2.32; 95% confidence interval [CI], 1.72-3.13), especially in some subtypes of CHDs, such as septal defects (aOR, 2.17; 95% CI, 1.15-4.10), conotruncal defects (aOR, 5.42; 95%CI, 2.43-12.10), and right ventricular outflow track obstruction (aOR, 2.43; 95% CI, 1.08-5.44). However, there was no statistically significant association with left ventricular outflow track obstruction (aOR, 1.66; 95% CI, 0.95-2.88). CONCLUSION: A high maternal aluminum concentration may significantly increase the risk of delivering a child with a CHD, such as a septal defect, conotruncal heart defect and right-side obstruction.

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