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This paper evaluated the clinical utility of massively parallel sequencing-based non-invasive prenatal testing (NIPT) for detecting trisomy 21 (T21), T18, T13, sex chromosome aneuploidies (SCA), and rare chromosome aneuploidies (RCA) among the data collected by a clinical laboratory in southern China.In a 3-year period between January 2017 and December 2019, over 40,000 pregnant women underwent NIPT clinical screening test for fetal T21, T18, T13, SCA, and RCA in our laboratory. NIPT samples were processed using the NextSeq CN500 platform. The positive results were confirmed by karyotyping, and chromosomal microarray analysis (CMA) or copy number variants (CNV) sequencing. Details of the pregnancy outcomes were collected via telephone interview.NIPT results were available for 41,819 cases; 691 positive cases were reported. The overall sensitivity for detection of T21, T18, T13, SCA, and RCA was 99.21, 100.00, 100.00, 98.55, and 100.00%, and the specificity was 99.95, 99.94, 99.98, 99.69, and 99.92%, respectively. The positive predictive values (PPVs) for detection of T21, T18, T13, SCA, and RCA were 85.62, 45.24, 40.00, 34.17, and 13.51%, respectively, and those for detection of 45,X, 47,XXY, 47,XXX, 47,XYY, and 46,XY(delX) 20.00, 59.18, 28.95, 61.54, and 25.00%, respectively. Regarding pregnancy outcomes, 92.38% of the pregnancies with confirmed aneuploidies were terminated, and 91.20% of those identified as having a false-positive result were carried to term. Among 252 unconfirmed cases, 24.60% of the pregnancies were terminated and 38.10% carried to term, while 37.30% declined interview.NIPT is widely used to screen fetal aneuploidies based on its high sensitivity and specificity. However, in this study, the PPVs of NIPT in terms of detecting T18, T13, XO, XXX and RCA were 50%. In addition, more than one-third of NIPT-positive women did not accept invasive prenatal diagnosis. Confirmatory diagnosis is strongly recommended for women with positive NIPT outcomes before any further decision is made.

As an essential part of Internet of Things, monocular depth estimation (MDE) predicts dense depth maps from a single red-green-blue (RGB) image captured by monocular cameras. Past MDE methods almost focus on improving accuracy at the cost of increased latency, power consumption, and computational complexity, failing to balance accuracy and efficiency. Additionally, when speeding up depth estimation algorithms, researchers commonly ignore their adaptation to different hardware architectures on edge devices. This article aims to solve these challenges. First, we design an efficient MDE model for precise depth sensing on edge devices. Second, We employ a reinforcement learning algorithm and automatically prune redundant channels of MDE by finding a relatively optimal pruning policy. The pruning approach lowers model runtime and power consumption with little loss of accuracy through achieving a target pruning ratio. Finally, we accelerate the pruned MDE while adapting it to different hardware architectures with a compilation optimization method. The compilation optimization further reduces model runtime by an order of magnitude on hardware architectures. Extensive experiments confirm that our methods are effective for images of different sizes on two public datasets. The pruned and optimized MDE achieves promising depth sensing with a better tradeoff among model runtime, accuracy, computational complexity, and power consumption than the state of the arts on different hardware architectures.

Background: This paper evaluated the clinical utility of massively parallel sequencing-based non-invasive prenatal testing (NIPT) for detecting trisomy 21 (T21), T18, T13, sex chromosome aneuploidies (SCA), and rare chromosome aneuploides (RCA) among the data collected by a clinical laboratory in southern China.Methods: In a 3-year period between 1January 2017 and 31 December 2019, over 40,000 pregnant women underwent NIPT clinical screening tests for fetal T21, T18, T13, SCA, and RCA in our laboratory. NIPT samples were processed using the NextSeq CN500 platform. The results were confirmed by karyotype, and chromosomal microarray analysis or CNV sequencing. Details of the pregnancy outcomes were collected via telephone interviews. Results: NIPT result were available for 41,819 cases; 691positive cases were reported. The overall sensitivity for detection of T21, T18, T13, SCA, and RCA was 99.21%, 100.00%, 100.00%, 98.55%, and 100.00%, and the specificity was 99.95%, 99.94%, 99.98%, 99.69%, and 99.92% respectively. The positive predictive value (PPVs) for detection of T21, T18, T13, SCA, and RCA were 85.62%, 45.24%, 40.00%, 34.17%, and 13.51%, respectively, and those for detection of 45,X, 47,XXY, 47,XXX, 47,XYY, and 46,XY(delX) 20.00%, 59.18%, 28.95%, 61.54%, and 25.00%, respectively. Regarding pregnancy outcomes, 92.38% of the pregnancies with confirmed aneuploidies were terminated, and 91.20% of those identified as having a false-positive result were carried to term. Among 252 unconfirmed cases, 24.60% of the pregnancies were terminated and 38.10% carried to term, while 37.30% unfollow-up.Conclusions: NIPT is widely used to screen fetal aneuploidies based on its high sensitivity and specificity. However, in this study, the PPVs of NIPT in terms of detecting T18, T13, XO, XXX and RCA were

Thermally activated delayed fluorescence (TADF) is generally observed in solid-state organic molecules or metal-organic complexes. However, TADF in all-inorganic colloidal nanocrystals (NCs) is rare. Herein, we report the first colloidal synthesis of an air-stable all-inorganic lead-free Cs2 ZrCl6 perovskite NCs. The Cs2 ZrCl6 NCs exhibit long-lived triplet excited state (138.2 μs), and feature high photoluminescence (PL) quantum efficiency (QY=60.37 %) due to TADF mechanism. The emission color can be easily tuned from blue to green by synthesizing the mixed-halide Cs2 ZrBrx Cl6-x (0≤x≤1.5) NCs. Femtosecond transient absorption and temperature dependent PL measurements are performed to clarify the emission mechanism. In addition, Bi3+ ions are successfully doped into Cs2 ZrCl6 NCs, which further extends the PL properties. This work not only develops a new lead-free halide perovskite NCs for potential optoelectronic applications, but also offers unique strategies for developing new inorganic phosphors.

Purpose Biliverdin reductase A (BLVRA) is a pleiotropic enzyme that converts biliverdin-IX-alpha into the antioxidant and anti-nitrosative compound, bilirubin-IX-alpha. It is related to various diseases, including cancer. It is overexpressed in many types of cancers and promotes cancer development and metastasis, but the effects of BLVRA in colorectal cancer have not been researched at present. This study was aimed to investigate the effects of biliverdin reductase A (BLVRA) in vivo and vitro experiments and its possible mechanism. Methods The clinical samples of CRC patients and CRC cell lines HT-29 and SW620 were chosen to perform the experiments. ELISA and Immunohistochemistry (IHC) were applied to test the level of BLVRA in patients. HT-29 knockdown of BLVRA and SW620 overexpression of BLVRA was established by the lentiviral vector transfection. Reverse transcription-quantitative real-time polymerase chain reaction and Western blotting were performed to examine the expression of BLVRA. MTT was used to detect the proliferation of CRC cells. Flow cytometry was applied to assess the rate of apoptosis. Transwell assay was performed to examine the capacity of migration and invasion. Immunofluorescence staining was adopted to assess the expression of E-cadherin and vimentin. Western blotting was utilized to detect the expression of apoptosis-related proteins, EMT-related proteins and target proteins of Wnt/β-catenin signaling pathway. Results Analysis of the clinical samples revealed that BLVRA was overexpressed in CRC patients and implied poor prognosis. BLVRA overexpression in the in vitro studies revealed that it increased the potential of CRC cells for proliferation, migration and invasion; augmented EMT; and hindered apoptosis. In addition, BLVRA overexpression was found to upregulate positive target genes and downregulate negative target genes of the Wnt/β-catenin signaling pathway, which implied that the biological effects of BLVRA in CRC were mediated by this pathway. In contrast, knockdown of BLVRA manifested the opposite effects. Conclusion Our results suggested that BLVRA might be a promising prognostic marker and a potential therapeutic target in CRC.

To explore the feasibility of clinical application of non-invasive prenatal screening to detect aneuploidy diseases.A total of 14,574 singleton pregnant women who underwent Non-invasive prenatal testing (NIPT) in the Southern Hospital from 2015 to June 2017 were selected, and 6471 pregnant women with twin pregnancy who underwent NIPT in the laboratory of Bei Rui He Kang Southern Hospital from June 2016 to October 2017 were included in this study. We analyzed NIPT screening efficiency (sensitivity, specificity) in twin pregnancies and singleton pregnancies, compared the positive detection rate of NIPT in patients with or without clinical symptoms. All NIPT high-risk results were validated by karyotyping, which were further verified by the follow-up physical examination of the neonatal.A total of 68 cases of twin pregnancy abnormalities were detected by NIPT, including 18 cases of trisomy 21, 6 cases of trisomy 18, 1 case of trisomy 13, 39 cases of Spinocerebellar ataxias (SCAs), and 4 cases of other chromosomal abnormalities. The sensitivity for trisomy 21, 18, and 13 and sex chromosome abnormality was 100%; the specificity for trisomy 21, 18, and 13 and sex chromosome abnormality was 99.97%, 99.95%, 99.97%, and 99.91% respectively. The screening efficiency was similar to that of singleton pregnancy, indicating that the NIPT technology in our laboratory for screening for aneuploidy diseases in twin pregnancy has reached the accuracy level of singleton pregnancy screening. There was a statistical difference between the risk group and the non-risk group in pregnant women with singleton pregnancy. The screening efficiency of NIPT was higher in pregnant women in the risk group, which implies that the clinical application of NIPT is inclined to detect high-risk group.Non-invasive prenatal testing (NIPT) is a rapid and safe screening method with high efficiency. Non-invasive prenatal testing (NIPT) is used for the screening of aneuploidy in twin pregnancy. The efficiency is similar to that of singleton pregnancy, indicating the feasibility of clinical application. However, the efficiency of NIPT screening tends to favor the detection in high-risk groups.

For display applications, it is highly desirable to obtain tunable red/green/blue emission. However, lead-free perovskite nanocrystals (NCs) generally exhibit broadband emission with poor color purity. Herein, we developed a unique phase transition strategy to engineer the emission color of lead-free cesium manganese bromides NCs and we can achieve a tunable red/green/blue emission with high color purity in these NCs. Such phase transition can be triggered by isopropanol: from one dimensional (1D) CsMnBr3 NCs (red-color emission) to zero dimensional (0D) Cs3 MnBr5 NCs (green-color emission). Furthermore, in a humid environment both 1D CsMnBr3 NCs and 0D Cs3 MnBr5 NCs can be transformed into 0D Cs2 MnBr4 ⋅2 H2 O NCs (blue-color emission). Cs2 MnBr4 ⋅2 H2 O NCs could inversely transform into the mixture of CsMnBr3 and Cs3 MnBr5 phase during the thermal annealing dehydration step. Our work highlights the tunable optical properties in single component NCs via phase engineering and provides a new avenue for future endeavors in light-emitting devices.

Objective To predict fetal growth restriction (FGR) by whole-genome promoter profiling of maternal plasma. Design Nested case-control study. Setting Hospital-based. Population or sample 810 pregnancies: 162 FGR cases and 648 controls. Methods We identified gene promoters with a nucleosome footprint that differed between FGR cases and controls based on maternal plasma cell-free DNA (cfDNA) nucleosome profiling. Optimal classifiers were developed using support vector machine (SVM) and logistic regression (LR) models. Main outcome measures Genes with differential coverages in promoter regions through the low-coverage whole-genome sequencing data analysis among FGR cases and controls. Receiver operating characteristic (ROC) analysis (area under the curve [AUC], accuracy, sensitivity and specificity) was used to evaluate the performance of classifiers. Results Through the low-coverage whole-genome sequencing data analysis of FGR cases and controls, genes with significantly differential DNA coverage at promoter regions (-1000 to +1000 bp of transcription start sites) were identified. The non-invasive 'FGR classifier 1' (CFGR 1) had the highest classification performance (AUC, 0.803; 95% CI 0.767-0.839; accuracy, 83.2%) was developed based on 14 genes with differential promoter coverage using a support vector machine. Conclusions A promising FGR prediction method was successfully developed for assessing the risk of FGR at an early gestational age based on maternal plasma cfDNA nucleosome profiling. Tweetable abstract A promising FGR prediction method was successfully developed, based on maternal plasma cfDNA nucleosome profiling.

The construction of the anode materials with high-rate and long-life performance for lithium-ion batteries (LIBs) still remains a great challenge due to their poor electronic conductivity and drastic volume changes during the lithiation and delithiation processes. Herein, we report nitrogen-doped carbon-coated MnO nanoparticles anchored on the interconnected graphene ribbons (IGR-MnO-C) as a anode for LIBs. As a result, the IGR-MnO-C exhibits a high reversible capacity (1055 mAh g−1 at 0.1 A g−1), excellent rate capability (547 mAh g−1 at 2 A g−1) and stable cycling performance (550 cycles with 113% capacity retention at 0.5 A g−1). The strategy proposed in this work can be further extended to other transition metal oxides for the applications in supercapacitors, sodium-ion batteries and fuel cell.

Purpose Biliverdin reductase A (BLVRA) is a pleiotropic enzyme that converts biliverdin-IX-alpha into the antioxidant and anti-nitrosative compound, bilirubin-IX-alpha. It is related to various diseases, including cancer. It is overexpressed in many types of cancers and promotes cancer development and metastasis, but the effects of BLVRA in colorectal cancer have not been researched at present. This study was aimed to investigate the effects of biliverdin reductase A (BLVRA) in vivo and vitro experiments and its possible mechanism. Methods The clinical samples of CRC patients and CRC cell lines HT-29 and SW620 were chosen to perform the experiments. ELISA and Immunohistochemistry (IHC) were applied to test the level of BLVRA in patients. HT-29 knockdown of BLVRA and SW620 overexpression of BLVRA was established by the lentiviral vector transfection. Reverse transcription-quantitative real-time polymerase chain reaction and Western blotting were performed to examine the expression of BLVRA. MTT was used to detect the proliferation of CRC cells. Flow cytometry was applied to assess the rate of apoptosis. Transwell assay was performed to examine the capacity of migration and invasion. Immunofluorescence staining was adopted to assess the expression of E-cadherin and vimentin. Western blotting was utilized to detect the expression of apoptosis-related proteins, EMT-related proteins and target proteins of Wnt/β-catenin signaling pathway. Results Analysis of the clinical samples revealed that BLVRA was overexpressed in CRC patients and implied poor prognosis. BLVRA overexpression in the in vitro studies revealed that it increased the potential of CRC cells for proliferation, migration and invasion; augmented EMT; and hindered apoptosis. In addition, BLVRA overexpression was found to upregulate positive target genes and downregulate negative target genes of the Wnt/β-catenin signaling pathway, which implied that the biological effects of BLVRA in CRC were mediated by this pathway. In contrast, knockdown of BLVRA manifested the opposite effects. Conclusion Our results suggested that BLVRA might be a promising prognostic marker and a potential therapeutic target in CRC.

Recent large high-quality trials have questioned the clinical effectiveness of medical expulsive therapy using tamsulosin for ureteral stones.To evaluate the efficacy and safety of tamsulosin for distal ureteral stones compared with placebo.We conducted a double-blind, placebo-controlled study of 3296 patients with distal ureteral stones, across 30 centers, to evaluate the efficacy and safety of tamsulosin.Participants were randomly assigned (1:1) into tamsulosin (0.4mg) or placebo groups for 4 wk.The primary end point of analysis was the overall stone expulsion rate, defined as stone expulsion, confirmed by negative findings on computed tomography, over a 28-d surveillance period. Secondary end points included time to stone expulsion, use of analgesics, and incidence of adverse events.Among 3450 patients randomized between September 1, 2011, and August 31, 2013, 3296 (96%) were included in the primary analysis. Tamsulosin benefits from a higher stone expulsion rate than the placebo (86% vs 79%; p0.001) for distal ureteral stones. Subgroup analysis identified a specific benefit of tamsulosin for the treatment of large distal ureteral stones (5mm). Considering the secondary end points, tamsulosin-treated patients reported a shorter time to expulsion (p0.001), required lower use of analgesics compared with placebo (p0.001), and significantly relieved renal colic (p0.001). No differences in the incidence of adverse events were identified between the two groups.Our data suggest that tamsulosin use benefits distal ureteral stones in facilitating stone passage and relieving renal colic. Subgroup analyses find that tamsulosin provides a superior expulsion rate for stones5mm, but no effect for stones ≤5mm.In this report, we looked at the efficacy and safety of tamsulosin for the treatment of distal ureteral stones. We find that tamsulosin significantly facilitates the passage of distal ureteral stones and relieves renal colic.

An organic-organic self-assembly hydrothermal synthesis strategy coupled with carbonization is reported to fabricate nitrogen-doped ordered mesoporous carbon microspheres (N-OMCMs) from m -aminophenol-formaldehyde resin. The obtained N-OMCMs possess high-surface-area ordered mesoporous structure, moderate nitrogen content and micrometer-sized sphere-like morphology. And the N-OMCMs exhibit a large specific capacitance up to 288 F g −1 , excellent rate performance (222 F g −1 at 20 A g −1 ) and long-term stability.

A series of two-dimensional hybrid perovskite nanosheets containing organic triplet energy acceptor, (NEA)2PbBr4−xIx(NEA = C12H11NH3), were synthesized. Steady-state and transient spectra show that nanosheets with the appropriate energy level, the intramolecular triplet energy transfer will occur across the inorganic/organic interface. The first step of triplet energy transfer is the transfer of holes from inorganic part to organic part, and the rate is 1.55 × 10 12 s - 1 in (NEA)2PbBr4 nanosheets. Then the electron transfer with rate of 5.5 × 10 10 s - 1 takes place to complete the triplet energy transfer process.

Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Here we report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes, which causes eye defects but no cognitive disability. We detected a deletion of 494.6 kb at Xp11.3 in both the proband and carrier mother. This deletion was then used as the molecular marker in prenatal diagnosis for two subsequent pregnancies. The deletion was absent in one of the foetuses, who remain without any abnormalities at 2 years of age. The proband shows the typical ocular clinical features of ND including bilateral retinal detachment, microphthalmia, atrophic irides, corneal opacification, and cataracts, but no symptoms of microcephaly, intellectual disability, and epilepsy. This familial study demonstrates that a deficiency in one of two MAO genes may not lead to psychomotor delay, and deletion of EFHC2 may not cause epilepsy. Our observations provide new information on the genotype–phenotype relations of $${\textit{MAOA/B}}$$ and EFHC2 genes involved in the contiguous deletions of ND.

As vital infrastructures, high-speed railways support the development of transportation. To maintain the punctuality and safety of railway systems, researchers have employed manual and computer vision methods to monitor overhead contact systems (OCSs), but they have low efficiency. Investigators have also used light detection and ranging (LiDAR) to generate point clouds by emitting laser beams. The point cloud is segmented for automatic OCS recognition, which improves recognition efficiency. However, existing LiDAR point cloud segmentation methods have high computational/model complexity and latency. In addition, they cannot adapt to embedded devices with different architectures. To overcome these issues, this article presents a lightweight neural network EffNet consisting of three modules: ExtractA, AttenA, and AttenB. ExtractA extracts the features from the disordered and irregular point clouds of an OCS. AttenA keeps information flowing in EffNet while extracting useful features. AttenB uses channel and spatialwise statistics to enhance important features and suppress unimportant ones efficiently. To further speed up EffNet and match it with diverse architectures, we optimized it with a generation framework of tensor programs and deployed it on embedded systems with different architectures. Extensive experiments demonstrated that EffNet has at least a 0.57% higher mean accuracy, but with 25.00% and 9.30% lower computational and model complexity for OCS recognition than others, respectively. The optimized EffNet can be adapted to different architectures. Its latency decreased by 51.97%, 56.47%, 63.63%, 82.58%, 85.85%, and 91.97% on the NVIDIA Nano CPU, TX2 CPU, UP Board CPU, Nano GPU, TX2 GPU, and RTX 2,080 Ti GPU, respectively.

This paper aims at energy-efficient transmission of packets with individual deadlines. In order to reduce the transmission energy of a packet, a lower data rate should be adopted, while the deadline restraint leads to a rate lower limit. It is derived theoretically that the energy-optimal transmission, i.e., the transmission consuming the minimal energy, follows three theorems: (1) the rate is invariable except for the deadlines of the packets; (2) the rate is non-increasing over the whole transmission time; (3) if the rate decreases at a deadline, only the terminated packets have been transmitted. Then, a scheduling algorithm based on backward unidirectional valve (BUV) is proposed, where the packets are divided into multiple groups and each group corresponds to a fixed rate. Specifically, the packets are handled one by one, and any packet is taken as a new group in the initial. If the transmission rate of the new group is not lower than that of its preceding neighboring group, the two groups are amalgamated into one, and this procedure is implemented constantly before the rate decreases in stairs. The BUV scheduling not only achieves the energy-optimal transmission, but also has a low computational complexity.

For transmitting a packet over a wireless link, the energy can be saved by decreasing the transmission rate, but the rate is restricted by the arrival time and deadline. This paper proposes unidirectional-valve (UDV) based scheduling for energy-efficient transmission, where the considered packets have individual arrivals and deadlines. The problem can be relaxed into two scenarios: (1) the packets arrive at individual arrivals but have a common deadline; (2) the packets all arrive at the beginning but have individual deadlines. For the two relaxed scenarios, the most energy-efficient scheduling policies are achieved by the forward and backward UDV algorithms, respectively. For the general scenario with individual arrivals and deadlines, the whole transmission time is divided into a series of segments by employing the rate-switching instants of the two relaxed scenarios, and next the forward and backward UDV algorithms are performed recursively on each segment, until it cannot be divided into more segments. The proposed UDV scheduling not only achieves the optimal energy efficiency, but also has low computational complexities, thus it makes a significant sense for packet transmission.

To systematically investigate chromosomal abnormalities and copy number variants (CNVs) in fetuses with different types of ventriculomegaly (VM) by karyotyping and/or chromosomal microarray analysis (CMA).This retrospective study included 312 fetuses diagnosed with VM. Amniotic fluid and umbilical blood samples were collected by amniocentesis and cordocentesis, respectively, and subjected to karyotyping and/or CMA. Subgroup analysis by VM type, including mild VM (MVM) and severe VM (SVM), unilateral and bilateral VM, isolated VM (IVM), and non-isolated VM (NIVM), was performed.The detection rate of chromosomal abnormalities was 12.1% (34/281) by karyotyping and 20.6% when CMA was additionally performed (P 0.05). Abnormalities were identified by CMA in 17.4% (38/218) of fetuses and pathogenic CNVs in 5.0% (11/218). Notably, CMA detected CNVs in 10.6% (23/218) of fetuses with normal karyotypes. The incidence of chromosomal abnormalities by karyotyping was higher in bilateral than in unilateral VM (20.5% versus 6.5%), whereas the incidence detected by CMA was higher in NIVM than in IVM (21.4% versus 10.3%; both P 0.05). In NIVM, CMA provided an additional detection rate of 11.4% (16/140) and a detection rate of 10.0% for pathogenic CNVs and aneuploidies. Central nervous system (CNS) abnormalities were the most common other ultrasonic abnormalities.CMA is highly recommended for prenatal diagnosis of fetal VM together with karyotyping, especially in fetuses with bilateral VM and NIVM with abnormal CNS findings. Further study is necessary to explore the relationships between genotypes and phenotypes to facilitate prenatal diagnosis of fetal VM.

As a strategy to obtain dense depth maps from a single image, sparse depths, or the fusion of both (RGBd), depth estimation receives much attention. Usually relying on high-performance workstations, existing depth prediction methods, are not particularly suitable for embedded devices. Moreover, the accuracy of depth estimation needs to be improved. Towards real-time and reliable depth prediction on portable embedded platforms, we propose an encoder-decoder architecture (EDA). Specifically, these are the three contributions of this work. (1) We present a light-weight encoder, which takes three modalities of data as inputs, namely, RGB images, sparse depths, or RGBd. The encoder is efficient to extract features on portable devices. (2) A novel decoder is designed to obtain accurate and high-resolution depth maps. (3) We use the existing TVM to deploy, compile, and optimize EDA on embedded platforms, for further improvements in the computational speed and power of depth estimation. In real scenarios, the optimized EDA achieves remarkable results with low latency. Through extensive experimental evaluation on two public datasets, we show that the optimized EDA outperforms the state of the arts in accuracy and computational resources. To the best of our knowledge, this is the first paper that provides an efficient encoder, learnable decoder, and end-to-end optimized encoder-decoder architecture for precise depth prediction.

The cover image based on Original Article Pilot study of a novel multi‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening by Yuqin Luo et al., DOI: 10.1002/mgg3.597. [Image: see text]

Background The noninvasive prenatal testing (NIPT) has been successfully used in the clinical screening of fetal trisomy 13, 18, and 21 in the last few years and researches on detecting sub‐chromosomal copy number variations (CNVs) and monogenic diseases are also in progress. To date, multiple tests are needed in order to complete a full set of fetus disorder screening, which is costly and time consuming. Therefore, an integrated 3‐in‐1 NIPT approach will be in great demand by routine clinical practice in the near future. Methods We designed a target capture sequencing panel with an associate bioinformatics pipeline to create a novel multi‐functional NIPT method and we evaluated its performance by testing 22 clinical samples containing aneuploidy, CNV, and single‐gene disorder. Chromosomal aneuploidy and CNV were detected based on the Z‐value approach, whereas single‐gene disorder was identified by using the “pseudo‐tetraploid” model to estimate the best‐suited genotype for each locus. Results The performance of this newly constructed 3‐in‐1 system was promising. We achieved a 100% detection rate for chromosomal aneuploidies (7/7), a 100% diagnosis rate for fetus CNVs larger than 20 Mb (3/3), and an 86.4% accuracy for single‐gene disorder screening (19/22). Conclusion For the first time, we showed that it is possible to use just a single NIPT test to detect three distinct types of fetus disorder and laid a foundation for developing a cheaper, faster, and multi‐functional NIPT method in the future.