The Gasdermin D N-terminal fragment acts as a negative feedback system to inhibit inflammasome-mediated activation of Caspase-1/11.

Inflammatory pathways usually utilize negative feedback regulatory systems to prevent tissue damage arising from excessive inflammatory response. Whether such negative feedback mechanisms exist in inflammasome activation remains unknown. Gasdermin D (GSDMD) is the pyroptosis executioner of downstream inflammasome signaling. Here, we found that GSDMD, after its cleavage by caspase-1/11, utilizes its RFWK motif in the N-terminal ß1-ß2 loop to inhibit the activation of caspase-1/11 and downstream inflammation in a negative feedback manner. Furthermore, an RFWK motif-based peptide inhibitor can inhibit caspase-1/11 activation and its downstream substrates GSDMD and interleukin-1ß cleavage, as well as lipopolysaccharide-induced sepsis in mice. Collectively, these findings provide a demonstration of the N-terminal fragment of GSDMD as a negative feedback regulator controlling inflammasome activation and a detailed delineation of the underlying inhibitory mechanism.

THz spectrum processing method based on optimal wavelet selection.

Terahertz spectrum is easily interfered by system noise and water-vapor absorption. In order to obtain high quality spectrum and better prediction accuracy in qualitative and quantitative analysis model, different wavelet basis functions and levels of decompositions are employed to perform denoising processing. In this study, the terahertz spectra of wheat samples are denoised using wavelet transform. The compound evaluation indicators (T) are used for systematically analyzing the quality effect of wavelet transform in terahertz spectrum preprocessing. By comparing the optimal denoising effects of different wavelet families, the wavelets of coiflets and symlets are more suitable for terahertz spectrum denoising processing than the wavelets of fejer-korovkin and daubechies, and the performance of symlets 8 wavelet basis function with 4-level decomposition is the optimum. The results show that the proposed method can select the optimal wavelet basis function and decomposition level of wavelet denoising processing in the field of terahertz spectrum analysis.

Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study.

BACKGROUND: With the extensive use of chromosomal microarray analysis (CMA), an increasing number of variants of uncertain significance (VOUS) have been detected. The objective of the present study was to elucidate the pathogenicity and clinical variability associated with isolated recurrent 4q35.2 microduplications within the Chinese population. METHODS: The present study involved 14 cases of isolated recurrent 4q35.2 microduplication (including 12 fetuses and 2 cases of pediatric patients) out of 5,188 subjects who sought genetic consultation at our hospital and received CMA detection. WES technology was subsequently utilized to identify additional sequence variants in a patient with multiple clinical anomalies. RESULTS: All 14 cases exhibited isolated recurrent 4q35.2 microduplications spanning a 1.0-Mb region encompassing the ZFP42 gene. Among the 12 fetuses, 11 displayed normal clinical features, while one was born with renal duplication and hydronephrosis. Additionally, in the two pediatric patients, WES was performed for Case 1, who presented with congenital cataracts, severe intellectual disability, and seizures. This patient inherited the 4q35.2 microduplication from his phenotypically normal mother. WES identified a novel NM_000276:c.2042G > T (p.G681V) variant in the OCRL gene, which is associated with Lowe syndrome and may account for the observed phenotypic variability within this family. CONCLUSION: A series of 14 cases with isolated recurrent 4q35.2 microduplications were investigated, highlighting a potential association with increased susceptibility to renal abnormalities. Further, the present findings may expand the mutation spectrum of the OCRL gene associated with Lowe syndrome and provide valuable insights for the genetic etiological diagnosis of patients with unexplained copy number variants.

The Effects of Different Thiol-Containing Compounds on the Degradation of Sulforaphene.

Sulforaphene (4-methylsufinyl-3-butenyl isothiocyanate, SFE), produced by myrosinase hydrolysis of glucoraphenin (4-methylsulfinyl-3-butenyl glucosinolate) found in radish seeds, is strongly associated with cancer prevention. In this study, we investigated the stability of SFE (purity above 98%) under various thiol-containing compounds at 25 °C, such as sodium hydrosulfide (NaHS), glutathione (GSH), and cysteine (Cys). We observed that the degradation of SFE was closely related to the presence and dissociation capacity of thiol-containing compounds in the solution, particularly the thiol group. We found that the degradation rate of SFE was influenced by incubation with NaHS, GSH, and Cys, with distinct degradation products detected for each of these thiol-containing compounds. Compared to GSH, sulfide and Cys played important roles in promoting the degradation of SFE. Furthermore, we found substantial quantities of hydrogen sulfide in conjunction with SFE during the hydrolysis process of seeds, and a heat treatment of the seeds resulted in increased production of SFE. However, the introduction of sulfide-oxidizing bacteria to the hydrolytic system did not exhibit any inhibitory effect on the degradation of SFE. These results provided a guideline for industries to improve the stability of SFE during preparation.

2D Phthalocyanine-Assembled Porous Nanostructure-Based Electrochemical Platform for High-Efficiency Detection of Ascorbic Acid.

In this work, a novel two-dimensional (2D) porous nanostructure is constructed upon air/water interfacial assembly of 12-crown-ether-4-incorporated double-decker phthalocyanine (Pc2). The combination of the good electroconductivity of phthalocyanine and the great surface area of the porous structure endows the assembled film with excellent chemical sensing property for ascorbic acid (AA). The low limit of detection can be 0.15 µM with a large linear concentration range and strong anti-interfering ability, which can be comparable to the best results of tetrapyrrole-based electrochemical sensors for AA. Furthermore, the obtained 2D porous assembled film sensor can be applied in real-time monitoring of AA in commercial drinks, indicating its application potential in accurate detection of AA in real samples.

Progress in programmed cell death-1/programmed cell death-ligand 1 pathway inhibitors and binding mode analysis.

Programmed cell death protein 1 (PD-1)/programmed cell death protein ligand 1 (PD-L1) plays an important role in negative regulating immunity. The search for effective PD-1/PD-L1 inhibitors has been at the cutting-edge of academic and industrial medicinal chemistry, leading to the emergence of 16 clinical candidate drugs and the launch of six monoclonal antibodies (mAbs) drugs. However, due to the unclear mechanism of the interaction between drugs and substances in vivo, the screening of preclinical drugs often takes a long time. In order to shorten the time of drug development as much as possible, the binding mode analysis that can simulate the interaction between drugs and substances in vivo at the molecular level can significantly shorten the drug development process. This paper reviews the mechanism of PD-1/PD-L1 signaling pathway at the molecular level, as well as the research progress and obstacles of inhibitors. Besides, we analyzed the binding mode of recently reported PD-1/PD-L1 inhibitors with PD-1 or PD-L1 protein in detail in order to provide ideas for the development of PD-1/PD-L1 inhibitors.

Highly dispersed Cu and Ni nano cluster sensor for ultrasensitive electrochemical detection of antiviral drug lamivudine.

The accurate and rapid detection for the nucleoside reverse transcriptase inhibitor lamivudine (LAM, 3TC) in cellular systems is always a challenge in the clinic application. Here, a sensitive Cu and Ni nano cluster sensor for LAM is generated under hydrothermal conditions.The Cu and Ni atoms are highly dispersed and aggregated in the nanosized opening pore windows of the synthesized LTA zeolite, through the diatomic synergistic contribution of Cu and Ni and the enrichment of zeolitic channel pores. Using differential pulse voltammetry (DPV), the detection limit (LOD) of LAM at the potential (- 0.15 V) can reach 0.001 pM and the linear range is 0.002 pM-0.002 µM. Since the nano cluster is separated and restricted by the nanosized windows of the zeolite framework, the sensor provides high stability, good recovery (92.5-109%) and RSD (0.8-3.2%) in the analysis of tap water, RPMI 1640 medium, and rabbit serum. The Cu/Ni/LTA zeolite-modified glassy carbon electrode (Cu/Ni/LTA/GCE) exhibits excellent catalytic performance for LAM with high selectivity over potentially interfering agents. A sensitive Cu and Ni nano cluster sensor for LAM is generated in the hydrothermal condition that the Cu and Ni atoms are highly dispersed and aggregated in the nanosized opening pore windows of the as-synthesized LTA zeolite. Through the diatomic synergistic contribution of Cu and Ni and the enrichment of zeolitic channel pores, the observed limit of detection (LOD) can reach 0.001 pM under differential pulse voltammetry (DPV) method with a wide linear relationship to 0.002 µM.

Recent Advances in THz Detection of Water.

The frequency range of terahertz waves (THz waves) is between 0.1 and 10 THz and they have properties such as low energy, penetration, transients, and spectral fingerprints, which are especially sensitive to water. Terahertz, as a frontier technology, have great potential in interpreting the structure of water molecules and detecting biological water conditions, and the use of terahertz technology for water detection is currently frontier research, which is of great significance. Firstly, this paper introduces the theory of terahertz technology and summarizes the current terahertz systems used for water detection. Secondly, an overview of theoretical approaches, such as the relaxation model and effective medium theory related to water detection, the relationship between water molecular networks and terahertz spectra, and the research progress of the terahertz detection of water content and water distribution visualization, are elaborated. Finally, the challenge and outlook of applications related to the terahertz wave detection of water are discussed. The purpose of this paper is to explore the research domains on water and its related applications using terahertz technology, as well as provide a reference for innovative applications of terahertz technology in moisture detection.

Functional Analysis of a CTL-X-Type Lectin CTL16 in Development and Innate Immunity of Tribolium castaneum.

C-type lectins (CTLs) are a class of proteins containing carbohydrate recognition domains (CRDs), which are characteristic modules that recognize various glycoconjugates and function primarily in immunity. CTLs have been reported to affect growth and development and positively regulate innate immunity in Tribolium castaneum. However, the regulatory mechanisms of TcCTL16 proteins are still unclear. Here, spatiotemporal analyses displayed that TcCTL16 was highly expressed in late pupae and early adults. TcCTL16 RNA interference in early larvae shortened their body length and narrowed their body width, leading to the death of 98% of the larvae in the pupal stage. Further analysis found that the expression level of muscle-regulation-related genes, including cut, vestigial, erect wing, apterous, and spalt major, and muscle-composition-related genes, including Myosin heavy chain and Myosin light chain, were obviously down-regulated after TcCTL16 silencing in T. castaneum. In addition, the transcription of TcCTL16 was mainly distributed in the hemolymph. TcCTL16 was significantly upregulated after challenges with lipopolysaccharides, peptidoglycans, Escherichia coli, and Staphylococcus aureus. Recombinant CRDs of TcCTL16 bind directly to the tested bacteria (except Bacillus subtilis); they also induce extensive bacterial agglutination in the presence of Ca2+. On the contrary, after TcCTL16 silencing in the late larval stage, T. castaneum were able to develop normally. Moreover, the transcript levels of seven antimicrobial peptide genes (attacin2, defensins1, defensins2, coleoptericin1, coleoptericin2, cecropins2, and cecropins3) and one transcription factor gene (relish) were significantly increased under E. coli challenge and led to an increased survival rate of T. castaneum when infected with S. aureus or E. coli, suggesting that TcCTL16 deficiency could be compensated for by increasing AMP expression via the IMD pathways in T. castaneum. In conclusion, this study found that TcCTL16 could be involved in developmental regulation in early larvae and compensate for the loss of CTL function by regulating the expression of AMPs in late larvae, thus laying a solid foundation for further studies on T. castaneum CTLs.

[Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication].

OBJECTIVE: To explore the genetic etiology for a child featuring mental retardation, language delay and autism. METHODS: G-banding chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were carried out for the child and her parents. RESULTS: The child was found to have a 46,XX,dup(8p?) karyotype, for which both of her parents were normal. SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12, both of which were verified as de novo pathogenic copy number variants. CONCLUSION: The clinical features of the child may be attributed to the 8p deletion and duplication. SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.

Bt cotton area contraction drives regional pest resurgence, crop loss, and pesticide use.

Genetically-modified crops expressing Bacillus thuringiensis (Bt) proteins have been widely cultivated, permitting an effective non-chemical control of major agricultural pests. While their establishment can enable an area-wide suppression of polyphagous herbivores, no information is available on the impact of Bt crop abandonment in entire landscape matrices. Here, we detail a resurgence of the cosmopolitan bollworm Helicoverpa armigera following a contraction of Bt cotton area in dynamic agro-landscapes over 2007-2019 in North China Plain. An 80% reduction in Bt cotton was mirrored in a 1.9-fold increase of ambient H. armigera population levels, culminating in 1.5-2.1-fold higher yield loss and a 2.0-4.4-fold increase in pesticide use frequency in non-Bt crops (i.e. maize, peanut, soybean). Our work unveils the fate of herbivorous insect populations following a progressive dis-use of insecticidal crop cultivars, and hints at how tactically deployed Bt crops could be paired with agro-ecological measures to mitigate the environmental footprint of crop production.

Realization of Single-Phase White-Light-Emitting Materials with Time-Evolution Ultralong Room-Temperature Phosphorescence by Coordination Assemblies.

Two Cd-based supramolecular coordination polymers, [Cd3(CzIP)3(DMF)2] (1) and [Cd2(CzIP)2(DMF)4] (2), were synthesized by using 5-(carbazol-9-yl) isophthalate (CzIP) as ligands. These two compounds exhibit multiple luminescence emissions; apart from fluorescence, time- and temperature-dependent ultralong phosphorescence (RTP) were also achieved under room conditions. Significantly, compound 1 has a long-lived afterglow of 0.93 s at 545 nm under ambient conditions. Compound 2 shows nearly pure white-light emission with CIE coordinates of (0.33, 0.33) via the dual emission of fluorescence and phosphorescence. It has come to our attention that it is the first example of a luminescent coordination polymer with single-phase white-light emission and color-evolution RTP. In addition, the long-lived RTP materials can be used in time-dependent anticounterfeiting and white-light-emitting diodes. Experimental and singlet and triplet state calculations indicate that both C-H···π interaction and inter- and intramolecular charge transfer interactions could be beneficial to the emission of ultralong RTP.

Fucoidan-derived carbon dots against Enterococcus faecalis biofilm and infected dentinal tubules for the treatment of persistent endodontic infections.

Enterococcus faecalis (E. faecalis) biofilm-associated persistent endodontic infections (PEIs) are one of the most common tooth lesions, causing chronic periapical periodontitis, root resorption, and even tooth loss. Clinical root canal disinfectants have the risk of damaging soft tissues (e.g., mucosa and tongue) and teeth in the oral cavity, unsatisfactory to the therapy of PEIs. Nanomaterials with remarkable antibacterial properties and good biocompatibility have been developed as a promising strategy for removing pathogenic bacteria and related biofilm. Herein, carbon dots (CDs) derived from fucoidan (FD) are prepared through a one-pot hydrothermal method for the treatment of PEIs. The prepared FDCDs (7.15 nm) with sulfate groups and fluorescence property are well dispersed and stable in water. Further, it is found that in vitro FDCDs display excellent inhibiting effects on E. faecalis and its biofilm by inducing the formation of intracellular and extracellular reactive oxygen species and altering bacterial permeability. Importantly, the FDCDs penetrated the root canals and dentinal tubules, removing located E. faecalis biofilm. Moreover, the cellular assays show that the developed FDCDs have satisfactory cytocompatibility and promote macrophage recruitment. Thus, the developed FDCDs hold great potential for the management of PEIs.

Toward High-Performance Electrochromic Conjugated Polymers: Influence of Local Chemical Environment and Side-Chain Engineering.

Three homologous electrochromic conjugated polymers, each containing an asymmetric building block but decorated with distinct alkyl chains, were designed and synthesized using electrochemical polymerization in this study. The corresponding monomers, namely T610FBTT810, DT6FBT, and DT48FBT, comprise the same backbone structure, i.e., an asymmetric 5-fluorobenzo[c][1,2,5]thiadiazole unit substituted by two thiophene terminals, but were decorated with different types of alkyl chain (hexyl, 2-butyloctyl, 2-hexyldecyl, or 2-octyldecyl). The effects of the side-chain structure and asymmetric repeating unit on the optical absorption, electrochemistry, morphology, and electrochromic properties were investigated comparatively. It was found that the electrochromism conjugated polymer, originating from DT6FBT with the shortest and linear alkyl chain, exhibits the best electrochromic performance with a 25% optical contrast ratio and a 0.3 s response time. The flexible electrochromic device of PDT6FBT achieved reversible colors of navy and cyan between the neutral and oxidized states, consistent with the non-device phenomenon. These results demonstrate that subtle modification of the side chain is able to change the electrochromic properties of conjugated polymers.

[Clinical and genetic analysis of a patient with 10q26.3 microdeletion in conjunct with 18q22.3q23 microduplication].

OBJECTIVE: To explore the genetic etiology for a patient featuring intellectual disability and torticollis. METHODS: Peripheral blood sample was collected from the patient and subjected to G-banded karyotyping analysis and single nucleotide polymorphism array (SNP-array) assay. RESULTS: The patient was found to have a chromosomal karyotype of 46,XX. SNP-array revealed that she has harbored a 3.8 Mb microdeletion at 10q26.3 which has encompassed 21 OMIM genes including EBF3 and ECHS1, and a 7.3 Mb duplication at 18q22.3q23 which has encompassed 19 OMIM genes including TSHZ1 and TXNL4A. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the 10q26.3 deletion was predicted to be pathogenic, whilst the 18q22.3q23 duplication was predicted to be variation of unknown significance. CONCLUSION: The clinical phenotype of the patient may be mainly attributed to the 10q26.3 microdeletion, and haploinsufficiency of the EBF3 gene may account for her intellectual deficiency. Above finding has provided a basis for genetic counseling for the patient.

[Application of chromosomal microarray analysis in the diagnosis of genetic etiology of spontaneous abortions].

OBJECTIVE: To explore the genetic etiology of spontaneous abortions by using chromosomal microarray analysis (CMA). METHODS: Fetal tissues derived from 106 spontaneous abortion samples were subjected to CMA assay to detect genome copy number variants (CNVs). RESULTS: The test was successful in 94 cases (88.68%). Fifty four chromosomal abnormalities were detected, which included 44 numerical chromosomal aberrations mainly consisting of aneuploidies, triploidies and mosaicisms. Four pathogenic CNVs were detected, and two of which involved the Cri-du-chat syndrome regions. In addition, 6 chromosomal mosaicism were detected. CONCLUSION: Numerical chromosomal aberrations and CNVs are the main causes for early spontaneous abortions. CMA can effectively reveal the genetic etiology of spontaneous abortions. Spontaneous abortions at gestational weeks 10 to 11+6 has the highest rate for chromosomal abnormalities, which may provide valuable information for clinical counseling.

[Genetic analysis of a case with a supernumerary marker derived from chromosome 9].

OBJECTIVE: To delineate a small supernumerary marker chromosome (sSMC) derived from chromosome 9 with combined cytogenetic and molecular methods. METHODS: For a pregnant woman with fetal ultrasound revealing left ventricular punctate hyperechoic echo, and a high risk for monosomy or partial deletion of chromosome 8, chromosome 9 trisomy, monosomy or partial deletion of chromosome 11 by non-invasive prenatal testing, and an abnormal MOM value revealed by mid-term serum screening, amniocentesis was performed for G banded chromosomal analysis and single nucleotide polymorphism array (SNP-array) assay. Peripheral blood samples of the woman and her spouse were also collected for the above tests. In addition, the woman was further subjected to C banding karyotyping analysis and fluorescence in situ hybridization (FISH) assay. RESULTS: The G-banded karyotype of the pregnant women was 47,XX,+mar[20]/46,XX[80], whilst C-banding analysis showed a deep stain in the middle of the sSMC (suggestive of centromeric region) and light stain at both ends (suggestive of euchromatism). FISH combined with DAPI banding analysis using 9pter/9qter probes revealed a karyotype of 47,XX,+mar.ish i(9)(9p10)(9p++)[2]/46,XX[18], whilst SNP-array has revealed a 68.1 Mb duplication in the 9p24.3q13 region. A database search has suggested the duplication to be likely pathogenic. No abnormality was found in her fetus and spouse by karyotyping and SNP-array analysis. CONCLUSION: Through combined cytogenetic and molecular genetic analysis, a sSMC derived from chromosome 9 was delineated, which has enabled genetic counseling for the couple.

[The value of combined detection of HbA2 and HbF for the screening of thalassemia among individuals of childbearing ages].

OBJECTIVE: To assess the application value of combined detection of HbA2 and HbF for the screening of thalassemia among a population of childbearing age in Quanzhou, Fujian, and determine the optimal cut-off values for the region. METHODS: Capillary hemoglobin electrophoresis and genetic testing for α and ß globin gene mutations were simultaneously carried out on 11 428 patients with suspected thalassemia. Statistical methods were used to analyze the distribution of various types of thalassemia and compare the performance of HbA2 and HbF measurement for the screening of various types of thalassemia. The optimal cut-off values for HbA2 and HbF were determined with the ROC curves. RESULTS: 4591 patients with α, ß, and αß compound thalassemia were identified by genetic testing. The most common genotypes for α and ß thalassemia included --SEA/αα and ß654/ßN, ß41-42/ßN, and ß17/ßN. The ROC curves were drawn to compare the performance of HbA2 screening for α-, ß-, αß-compound, static α-, mild α-, and intermediate α-thalassemia, and the maximum area under the curves was 0.674, 0.984, 0.936, 0.499, 0.731, 0.956, and the optimal cut-off values for HbA2 were 2.45%, 3.25%, 3.65%, 2.95%, 2.55%, 1.75%, respectively. CONCLUSION: HbA2 is an efficient indicator for identifying intermediate types of α-, ß-, and αß compound thalassemia. The combination of HbA2 and HbF measurement can effectively detect carriers for ß-thalassemia mutations.

Metal-Mediated Polydopamine Nanoparticles-DNA Nanomachine Coupling Electrochemical Conversion of Metal-Organic Frameworks for Ultrasensitive MicroRNA Sensing.

The development of a robust sensing platform with an efficient probe assembly, and ingenious signal conversion is of great significance for bioanalytical application. In this work, a multipedal polydopamine nanoparticles-DNA (PDANs-DNA) nanomachine coupling electrochemical-driven metal-organic frameworks (MOFs) conversion-enabled biosensing platform was constructed. The PDANs-DNA nanomachine was designed based on Ca2+-mediated DNA adsorption and target-triggered catalytic hairpin assembly on PDANs, which not only maintained the DNA immobilization simplicity but also possessed a high walking efficiency. PDANs-DNA nanomachine could walk fast on the electrode via multiple legs under exonuclease III driving, resulting in the formation of DNA dendrimers through two hairpins assembly. The MOFs (Fe-MIL-88-NH2) probe was decorated on the DNA dendrimers to act as a porous metal precursor and converted into electroactive Prussian Blue by a controlled electrochemical approach, which was a facile, simple, and room-temperature approach compared with the commonly employed MOFs conversion methods. Using microRNA-21 (miRNA-21) as the model target, the proposed biosensor achieved miRNA-21 detection ranging from 10 aM to 10 pM with the detection limit of 5.8 aM. The proposed strategy presented a highly efficient walking platform with the ingenious electrochemical conversion of MOFs, providing more options for the design of an electrochemical platform and holding potential applications in clinical analysis and disease diagnosis.

Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.

BACKGROUND: An increasing number of techniques have been used for prenatal diagnosis of genetic abnormalities. Our initial objective was to explore the value of the BACs-on-Beads (BoBs) assay for the prenatal diagnosis of aneuploidies and microdeletion/microduplication syndromes in Quanzhou, Southeast China. METHODS: A total of 1409 pregnant women with high-risk factors for chromosomal abnormalities admitted to Quanzhou Women's and Children's Hospital were enrolled in this study. BoBs assays and karyotype analyses were conducted for all subjects. Subsequently, chromosome microarray analysis (CMA) or fluorescence in situ hybridization (FISH) was performed to validate the findings. RESULTS: In this study, karyotype analysis and BoBs assay failed in 4 cases, and 2 cases, respectively. A total of 1403 cases were successfully analyzed, with success rates of 99.72% (1405/1409) and 99.85% (1407/1409) for karyotype analysis and Bobs assay, respectively. BoBs assay rapidly detected chromosomal aneuploidies in line with the karyotyping data. Additionally, 23 cases of microdeletions/microduplications were detected by BoBs assay but missed by karyotyping, including 22q11.2 microdeletions/microduplications, 5p15.32p15.33 microdeletion, Xp22.31 microdeletions/microduplications, Xq27.3 microdeletion, and Yp11.2 and Yq11.22q11.222 microduplication. In comparison with karyotyping, fewer mosaicisms were identified by BoBs assay. A high detection rate of chromosomal abnormalities was observed in the high-risk group during noninvasive prenatal testing (NIPT) (41.72%) and the abnormal ultrasound group (13.43%). CONCLUSIONS: BoBs assay can be used for the rapid and efficient prenatal diagnosis of common aneuploidies and microdeletion/microduplication syndromes. Moreover, the combined use of BoBs assay and karyotyping in prenatal diagnosis may allow for a more effective detection of chromosomal abnormalities.