Full Copy Research Articles

Evolving the Era of 5D Ultrasound? A Systematic Literature Review on the Applications for Artificial Intelligence Ultrasound Imaging in Obstetrics and Gynecology.

Artificial intelligence (AI) has gained prominence in medical imaging, particularly in obstetrics and gynecology (OB/GYN), where ultrasound (US) is the preferred method. It is considered cost effective and easily accessible but is time consuming and hindered by the need for specialized training. To overcome these limitations, AI models have been proposed for automated plane acquisition, anatomical measurements, and pathology detection. This study aims to overview recent literature on AI applications in OB/GYN US imaging, highlighting their benefits and limitations. For the methodology, a systematic literature search was performed in the PubMed and Cochrane Library databases. Matching abstracts were screened based on the PICOS (Participants, Intervention or Exposure, Comparison, Outcome, Study type) scheme. Articles with full text copies were distributed to the sections of OB/GYN and their research topics. As a result, this review includes 189 articles published from 1994 to 2023. Among these, 148 focus on obstetrics and 41 on gynecology. AI-assisted US applications span fetal biometry, echocardiography, or neurosonography, as well as the identification of adnexal and breast masses, and assessment of the endometrium and pelvic floor. To conclude, the applications for AI-assisted US in OB/GYN are abundant, especially in the subspecialty of obstetrics. However, while most studies focus on common application fields such as fetal biometry, this review outlines emerging and still experimental fields to promote further research.

Weak interaction-steered evolution of polyoxovanadate-based metal-organic polyhedra from transformation via interlock to packing

A bottleneck in biomimetic synthesis consists in the full copy of, for example, the hierarchical structure of proteins directed by weak interactions. By contrast with covalent bonds bearing definite orientation and high stability, weak intermolecular forces within a continuous dynamic equilibrium can be hardly tamed for molecular design. In this endeavor, a ligand-dominated strategy that embodies tunable electrostatic repulsion and π···π stacking was first employed to shape polyoxovanadate-based metal-organic polyhedra (VMOPs). Structural evolution involving transformation, interlock, and discovery of an unprecedented prototype of the Star of David was hence achievable. Not only as a handy tool for the primary structural control over VMOPs, these weak forces allow for an advanced management on the spatial distribution of such manmade macromolecules as well as the associated physicochemical behaviors, representing an ideal model for simulating and interpreting the conformation-function relationship of proteins.

Blinded rebiopsy and analysis of noneuploid embryos with 2 distinct preimplantation genetic testing platforms for aneuploidy

To determine how often a noneuploid result from a single trophectoderm (TE) biopsy tested with the next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidy (PGT-A) is concordant with rebiopsies tested with a single-nucleotide polymorphism (SNP) array-based PGT-A platform. Blinded prospective cohort study. University-affiliated fertility center. One hundred blastocysts were chosen from donated samples; on TE biopsy with NGS-based PGT-A, 40 had at least one whole chromosome full copy number aneuploidy alone, 20 had a single whole chromosome intermediate copy number ("whole chromosome mosaic"), 20 had a single full segmental aneuploidy (segA), and 20 had a single segmental intermediate copy number ("segmental mosaic"). Four rebiopsies were collected from each embryo: 3 TE biopsies and the remaining embryo. Each rebiopsy was randomized, blinded, and assessed with an SNP array-based PGT-A platform that combines copy number and allele ratio analyses, without mosaicism reporting. Concordance between the NGS result and rebiopsy results and within each embryo's blinded rebiopsy results. Next-generation sequencing-diagnosed whole chromosome aneuploidy (WCA) was reconfirmed in 95% (95% confidence interval [CI], 83%-99%) of embryos; 2 embryos with NGS-diagnosed WCA were called euploid on all conclusive rebiopsies. Among embryos with NGS-diagnosed whole chromosome mosaicism, 35% (95% CI, 15%-59%) were called euploid and 15% (95% CI, 3%-38%) were called whole chromosome aneuploid on all conclusive rebiopsies. A total of 30% (95% CI, 12%-54%) of embryos with NGS-diagnosed segA and 65% (95% CI, 41%-85%) of embryos with NGS-diagnosed segmental mosaicism were called euploid on all conclusive rebiopsies. In total, 13% (95% CI, 6%-25%) of embryos with NGS-diagnosed full copy number aneuploidy and 50% (95% CI, 34%-66%) of embryos with NGS-diagnosed mosaicism had uniformly euploid SNP results. Conversely, all embryos with at least one noneuploid SNP result (n = 72) either had SNP-diagnosed aneuploidy on another rebiopsy from the same embryo or NGS-diagnosed aneuploidy/mosaicism involving the same chromosome. Next-generation sequencing-diagnosed WCA is highly concordant with rebiopsies tested with an SNP array-based PGT-A; however, whole chromosome mosaicism, segA, and segmental mosaicism are less concordant, reinforcing that embryos with these results may have reproductive potential and be suitable for transfer.

Literature analysis on asparagus roots and review of its functional characterizations.

Asparagus root (AR) is utilized globally as a traditional herbal medicine because it contains various bioactive compounds, such as polyphenols, flavonoids, saponins, and minerals. The composition profiles of AR are strongly affected by its botanical and geographical origins. Although minerals and heavy metals are minor constituents of AR, they play a crucial role in determining its quality and efficacy. A comprehensive classification of AR, its phytochemistry, and its pharmacology were reviewed and interpreted herein. Potentially eligible articles (in English) were identified through an electronic search of the Web of Science database (2010-2022) and Google (2001-2022). We used the primary search term "Asparagus roots" combined with the words "pharmacology," "bioactive compounds," "physicochemical properties," and "health benefits" to find the relevant literature. We screened the titles, keywords, and abstracts of the publications obtained from the database. A full copy of the article was obtained for further assessment if deemed appropriate. Different asparagus species might potentially be used as herbal medicines and functional foods. Phytochemical studies have revealed the presence of various bioactive compounds as valuable secondary metabolites. The dominant class of bioactive compounds in AR is flavonoids. Furthermore, AR displayed significant pharmacological effects, such as antioxidant, antimicrobial, antiviral, anticancer, anti-inflammatory, and antidiabetic effects, as shown in animal and human studies. This review provides a valuable resource to enable a thorough assessment of the profile of Asparagus root as a functional ingredient for the pharmaceutical and food industries. In addition, it is anticipated that this review will provide information to healthcare professionals seeking alternative sources of critical bioactive compounds.

The Impact of Oral Health Status on COVID-19 Severity: A Systematic Literature Review of 25 Studies

Objectives: Several risk factors have been recognized in the progress of coronavirus disease 2019 (COVID-19) toward a severe stage. Poor oral health has been relevant to many systemic diseases due to higher inflammation. This study sought to aim the influence of oral health status on severe COVID-19. Methods: A systematic search of the medical literature was done using a combination of search terms of online databases including PubMed/Medline, Medline, SCOPUS, Ovid, Cochrane database, and Google Scholar from December 1st, 2019 to July 30th, 2021. Only articles written in the English language were selected. Results: A total of 352 studies were reviewed for relevance, specified by the title, abstract, and full copy leading to a yield of 25 articles satisfying inclusion criteria. COVID-19 patients with poor oral health status were at a higher risk of intensive care unit (ICU) hospitalization, need for mechanical ventilation, first and second-week deterioration, delayed recovery period, and mortality. Predisposing individuals to serious systemic diseases, conducting pathogens to the lower airways, developing bacterial co-infection, impairing the function of the innate immune system, increasing expression of angiotensin-converting enzyme-II (ACEII) receptors, and enhancing expression of inflammatory cytokines are oral-related risk factors for severe COVID-19 infection. Conclusions: This systematic literature review presents that poor oral health status is linked to severe COVID-19 complications. Monitoring and maintaining oral health, identifying risk groups, and developing appropriate recommendations are simple strategies to combat the current coronavirus crisis.

Enhancing Evolutionary Algorithm Performance with Knowledge Transfer and Asynchronous Parallelism

This two-part PhD thesis (by Eric O. Scott, Advisors: Kenneth A. De Jong and Sean Luke) investigates asynchronous steady-state evolutionary algorithms and evolutionary knowledge transfer, respectively, as ways to address challenges that can make it difficult to apply evolutionary algorithms (EAs) to computationally intensive applications. A full copy of the dissertation can be found via ProQuest.

The K2: Open-source simultaneous triple-color TIRF microscope for live-cell and single-molecule imaging

Imaging the dynamics and interactions of biomolecules at the single-molecule level in live cells and reconstituted systems has generated unprecedented knowledge about the biomolecular processes underlying many cellular functions. To achieve the speed and sensitivity needed to detect and follow individual molecules, these experiments typically require custom-built microscopes or custom modifications of commercial systems. The costs of such single-molecule microscopes, their technical complexity and the lack of open-source documentation on how to build custom setups therefore limit the accessibility of single-molecule imaging techniques. To advance the adaptation of dynamic single-molecule imaging by a wider community, we present the “K2”: an open-source, simultaneous triple-color total internal reflection fluorescence (TIRF) microscope specifically designed for live-cell and single-molecule imaging. We explain our design considerations and provide step-by-step building instructions, parts list and full CAD models. The modular design of this TIRF microscope allows users to customize it to their scientific and financial needs, or to re-use parts of our design to improve the capabilities of their existing setups without necessarily having to build a full copy of the K2 microscope.

Adaptive Storage Optimization Scheme for Blockchain-IIoT Applications Using Deep Reinforcement Learning

Blockchain-IIoT integration into industrial processes promises greater security, transparency, and traceability. However, this advancement faces significant storage and scalability issues with existing blockchain technologies. Each peer in the blockchain network maintains a full copy of the ledger which is updated through consensus. This full replication approach places a burden on the storage space of the peers and would quickly outstrip the storage capacity of resource-constrained IIoT devices. Various solutions utilizing compression, summarization or different storage schemes have been proposed in literature. The use of cloud resources for blockchain storage has been extensively studied in recent years. Nonetheless, block selection remains a substantial challenge associated with cloud resources and blockchain integration. This paper proposes a deep reinforcement learning (DRL) approach as an alternative to solving the block selection problem, which involves identifying the blocks to be transferred to the cloud. We propose a DRL approach to solve our problem by converting the multi-objective optimization of block selection into a Markov decision process (MDP). We design a simulated blockchain environment for training and testing our proposed DRL approach. We utilize two DRL algorithms, Advantage Actor-Critic (A2C), and Proximal Policy Optimization (PPO) to solve the block selection problem and analyze their performance gains. PPO and A2C achieve 47.8% and 42.9% storage reduction on the blockchain peer compared to the full replication approach of conventional blockchain systems. The slowest DRL algorithm, A2C, achieves a run-time 7.2 times shorter than the benchmark evolutionary algorithms used in earlier works, which validates the gains introduced by the DRL algorithms. The simulation results further show that our DRL algorithms provide an adaptive and dynamic solution to the time-sensitive blockchain-IIoT environment.

The role of LTR retrotransposons in plant genetic engineering: how to control their transposition in the genome.

We briefly discuss that the similarity of LTR retrotransposons to retroviruses is a great opportunity for the development of a genetic engineering tool that exploits intragenic elements in the plant genome for plant genetic improvement. Long terminal repeat (LTR) retrotransposons are very similar to retroviruses but do not have the property of being infectious. While spreading between its host cells, a retrovirus inserts a DNA copy of its genome into the cells. The ability of retroviruses to cause infection with genome integration allows genes to be delivered to cells and tissues. Retrovirus vectors are, however, only specific to animals and insects, and, thus, are not relevant to plant genetic engineering. However, the similarity of LTR retrotransposons to retroviruses is an opportunity to explore the former as a tool for genetic engineering. Although recent long-read sequencing technologies have advanced the knowledge about transposable elements (TEs), the integration of TEs is still unable either to control them or to direct them to specific genomic locations. The use of existing intragenic elements to achieve the desired genome composition is better than using artificial constructs like vectors, but it is not yet clear how to control the process. Moreover, most LTR retrotransposons are inactive and unable to produce complete proteins. They are also highly mutable. In addition, it is impossible to find a full active copy of a LTR retrotransposon out of thousands of its own copies. Theoretically, if these elements were directly controlled and turned on or off using certain epigenetic mechanisms (inducing by stress or infection), LTR retrotransposons could be a great opportunity to develop a genetic engineering tool using intragenic elements in the plant genome. In this review, the recent developments in uncovering the nature of LTR retrotransposons and the possibility of using these intragenic elements as a tool for plant genetic engineering are briefly discussed.

Fast and Reconfigurable Logic Synthesis in Memristor Crossbar Array

Memristor is a potential basic unit for the in‐memory computing system, which is an approach to break the memory wall of the traditional computer. However, low switching speed, nonuniform device characteristics, and inefficient logic synthesis hinder the development of memristor‐based in‐memory computing. Herein, a novel Cu/α‐Si/α‐C/Pt memristor and direct resistance‐coupling logic synthesis scheme to construct high‐efficiency in‐memory computing is presented. The memristor shows excellent uniformity of low/high resistance (relative dispersion σ/μ = 4.68% and 3.28%) and SET/RESET voltage (relative dispersion σ/μ = 3.24% and 5.85%), fast switching speed (≈30 ns), good endurance (>108), and long retention (>105 s at 100 °C). Complete set of Boolean logic and some derived logic operators are efficiently implemented in the Cu/α‐Si/α‐C/Pt crossbar array. Furthermore, the reconfigurable and parallel logic synthesis is experimentally demonstrated by one‐bit full adder and parallel copy operation. This work can greatly improve the logic computing efficiency and flexibility in the memristor crossbar array.

Consonant Epenthesis in Greek Child Speech: A Phonological Perspective

In this paper a less well-studied process is discussed, namely, segmental insertion in child language. The main question of the study is why children use consonant epenthesis in their speech. Our assumptions are based on picture naming and spontaneous speech collected from four monolingual Greek-speaking children varying in age from 1;6.26 to 2;10.9. Their data reveal that it is a systematic process which helps them simplify their speech by forming unmarked structures (Oller, 1974). The position of the epenthetic segment as well as its quality are also examined. We observe that an epenthetic consonant is inserted at the left or right edge of the word in order for an unmarked CV syllable to emerge. In a few cases with cluster simplification, a consonant is inserted to the syllable that does not contain the cluster in order to maintain in number all the segments of the adult’s form. Further, the epenthetic segment, which arises in one of the two edges of the word, constitutes a full copy of a consonant located at the other edge. This interaction seems to support the view that edgemost syllables are psycholinguistically prominent positions (e.g., Pater, 1997, Smith, 2002) and children tend to pay more attention to them (Slobin, 1973). For the analysis of children’s tokens, Optimality Theory is adopted (Prince & Smolensky, 1993) and how this model can account for all the properties presented in consonant epenthesis is explained.

Effective Use of Likert Scales in Visualization Evaluations: A Systematic Review

AbstractLikert scales are often used in visualization evaluations to produce quantitative estimates of subjective attributes, such as ease of use or aesthetic appeal. However, the methods used to collect, analyze, and visualize data collected with Likert scales are inconsistent among evaluations in visualization papers. In this paper, we examine the use of Likert scales as a tool for measuring subjective response in a systematic review of 134 visualization evaluations published between 2009 and 2019. We find that papers with both objective and subjective measures do not hold the same reporting and analysis standards for both aspects of their evaluation, producing less rigorous work for the subjective qualities measured by Likert scales. Additionally, we demonstrate that many papers are inconsistent in their interpretations of Likert data as discrete or continuous and may even sacrifice statistical power by applying nonparametric tests unnecessarily. Finally, we identify instances where key details about Likert item construction with the potential to bias participant responses are omitted from evaluation methodology reporting, inhibiting the feasibility and reliability of future replication studies. We summarize recommendations from other fields for best practices with Likert data in visualization evaluations, based on the results of our survey. A full copy of this paper and all supplementary material are available at https://osf.io/exbz8/.

Cell models for Down syndrome-Alzheimer's disease research.

Down syndrome (DS) is the most common chromosomal abnormality and leads to intellectual disability, increased risk of cardiac defects, and an altered immune response. Individuals with DS have an extra full or partial copy of chromosome 21 (trisomy 21) and are more likely to develop early-onset Alzheimer’s disease (AD) than the general population. Changes in expression of human chromosome 21 (Hsa21)-encoded genes, such as amyloid precursor protein (APP), play an important role in the pathogenesis of AD in DS (DS-AD). However, the mechanisms of DS-AD remain poorly understood. To date, several mouse models with an extra copy of genes syntenic to Hsa21 have been developed to characterise DS-AD-related phenotypes. Nonetheless, due to genetic and physiological differences between mouse and human, mouse models cannot faithfully recapitulate all features of DS-AD. Cells differentiated from human-induced pluripotent stem cells (iPSCs), isolated from individuals with genetic diseases, can be used to model disease-related cellular and molecular pathologies, including DS. In this review, we will discuss the limitations of mouse models of DS and how these can be addressed using recent advancements in modelling DS using human iPSCs and iPSC-mouse chimeras, and potential applications of iPSCs in preclinical studies for DS-AD.

Photosensitive Accessibility for Interactive Data Visualizations.

Accessibility guidelines place restrictions on the use of animations and interactivity on webpages to lessen the likelihood of webpages inadvertently producing sequences with flashes, patterns, or color changes that may trigger seizures for individuals with photosensitive epilepsy. Online data visualizations often incorporate elements of animation and interactivity to create a narrative, engage users, or encourage exploration. These design guidelines have been empirically validated by perceptual studies in visualization literature, but the impact of animation and interaction in visualizations on users with photosensitivity, who may experience seizures in response to certain visual stimuli, has not been considered. We systematically gathered and tested 1,132 interactive and animated visualizations for seizure-inducing risk using established methods and found that currently available methods for determining photosensitive risk are not reliable when evaluating interactive visualizations, as risk scores varied significantly based on the individual interacting with the visualization. To address this issue, we introduce a theoretical model defining the degree of control visualization designers have over three determinants of photosensitive risk in potentially seizure-inducing sequences: the size, frequency, and color of flashing content. Using an analysis of 375 visualizations hosted on bl.ocks.org, we created a theoretical model of photosensitive risk in visualizations by arranging the photosensitive risk determinants according to the degree of control visualization authors have over whether content exceeds photosensitive accessibility thresholds. We then use this model to propose a new method of testing for photosensitive risk that focuses on elements of visualizations that are subject to greater authorial control - and are therefore more robust to variations in the individual user - producing more reliable risk assessments than existing methods when applied to interactive visualizations. A full copy of this paper and all study materials are available at https://osf.io/8kzmg/.

Sulpicius Severus’s Construction of his 84-year Paschal Table

The structure and termini of the 84-year Paschal table with a 14-year saltus followed by the early mediaeval churches of Britain and Ireland remained a matter of conjecture until 1985, when Daibhi O Croinin identified a full copy of the table in MS Padua, Biblioteca Antoniana, I.27. This paper undertakes a detailed analysis of the Padua table and demonstrates that its achievement of Anatolius’ Paschal termini of luna 14-20 between 26 March and 23 April resulted from Sulpicius Severus’ skilful exploitation of the synchronism between his 14-year saltus and the 28-year solar cycle.

Exchange on dynamic encounter networks allows plant mitochondria to collect complete sets of mitochondrial DNA products despite their incomplete genomes

Mitochondria in plant cells usually contain less than a full copy of the mitochondrial DNA (mtDNA) genome. Here, we asked whether mitochondrial dynamics may allow individual mitochondria to 'collect' a full set of mtDNA-encoded gene products over time, by facilitating exchange between individuals akin to trade on a social network. We characterise the collective dynamics of mitochondria in Arabidopsis hypocotyl cells using a recent approach combining single-cell time-lapse microscopy, video analysis and network science. We use a quantitative model to predict the capacity for sharing genetic information and gene products through the networks of encounters between mitochondria. We find that biological encounter networks support the emergence of gene product sets over time more readily than a range of other possible network structures. Using results from combinatorics, we identify the network statistics that determine this propensity, and discuss how features of mitochondrial dynamics observed in biology facilitate the collection of mtDNA-encoded gene products.

SASLedger: A Secured, Accelerated Scalable Storage Solution for Distributed Ledger Systems

Blockchain technology provides a “tamper-proof distributed ledger” for its users. Typically, to ensure the integrity and immutability of the transaction data, each node in a blockchain network retains a full copy of the ledger; however, this characteristic imposes an increasing storage burden upon each node with the accumulation of data. In this paper, an off-chain solution is introduced to relieve the storage burden of blockchain nodes while ensuring the integrity of the off-chain data. In our solution, an off-chain remote DB server stores the fully replicated data while the nodes only store the commitments of the data to verify whether the off-chain data are tampered with. To minimize the influence on performance, the nodes will store data locally at first and transfer it to the remote DB server when otherwise idle. Our solution also supports accessing all historical data for newly joined nodes through a snapshot mechanism. The solution is implemented based on the Hyperledger Fabric (HLF). Experiments show that our solution reduces the block data for blockchain nodes by 93.3% compared to the original HLF and that our advanced solution enhances the TPS by 9.6% compared to our primary solution.

RALSA: the R analyzer for large-scale assessments

This paper presents the R Analyzer for Large-Scale Assessments (RALSA), a newly developed R package for analyzing data from studies using complex sampling and assessment designs. Such studies are, for example, the IEA’s Trends in International Mathematics and Science Study and the OECD’s Programme for International Student Assessment. The package covers all cycles from a broad range of studies. The paper presents the architecture of the package, the overall workflow and illustrates some basic analyses using it. The package is open-source and free of charge. Other software packages for analyzing large-scale assessment data exist, some of them are proprietary, others are open-source. However, RALSA is the first comprehensive R package, designed for the user experience and has some distinctive features. One innovation is that the package can convert SPSS data from large scale assessments into native R data sets. It can also do so for PISA data from cycles prior to 2015, where the data is provided in tab-delimited text files along with SPSS control syntax files. Another feature is the availability of a graphical user interface, which is also written in R and operates in any operating system where a full copy of R can be installed. The output from any analysis function is written into an MS Excel workbook with multiple sheets for the estimates, model statistics, analysis information and the calling syntax itself for reproducing the analysis in future. The flexible design of RALSA allows for the quick addition of new studies, analysis types and features to the existing ones.

Down syndrome detection using modified adaboost algorithm

In human body genetic codes are stored in the genes. All of our inherited traits are associated with these genes and are grouped as structures generally called chromosomes. In typical cases, each cell consists of 23 pairs of chromosomes, out of which each parent contributes half. But if a person has a partial or full copy of chromosome 21, the situation is called Down syndrome. It results in intellectual disability, reading impairment, developmental delay, and other medical abnormalities. There is no specific treatment for Down syndrome. Thus, early detection and screening of this disability are the best styles for down syndrome prevention. In this work, recognition of Down syndrome utilizes a set of facial expression images. Solid geometric descriptor is employed for extracting the facial features from the image set. An AdaBoost method is practiced to gather the required data sets and for the categorization. The extracted information is then assigned and used to instruct the Neural Network using Backpropagation algorithm. This work recorded that the presented model meets the requirement with 98.67% accuracy.

RETROSPECTIVE ANALYSIS OF RE-BIOPSIED MOSAIC BLASTOCYSTS, AS IT PERTAINS TO GENETIC COUNSELING PRACTICES

PGT-A specific genetic counseling is a challenge due to the ongoing nature of new information and how to actively incorporate this information into counseling protocol. Retrospective analysis of results from embryos that were biopsied twice was used to assess whether the individual mosaic chromosome is still relevant to the counseling discussion. From 2017-2020, ninety-four (n=94) blastocysts that were reported as having whole chromosome, low-level (31-50%) mosaicism were thawed, rebiopsied and tested using Veriseq PGS (VitroLife, Sweden). First and second biopsies were evaluated in terms of specific and total call concordance, including the assessment of reciprocal and full copy number changes. Of the ninety-four (n=94) rebiopsy samples tested, results were obtained on 98%. 57% (n=54) produced a PGT-normal rebiopsy result. The abnormal results involved the exact, partial or reciprocal abnormality at a rate of 10% (9/94), 9% (8/94) and 6% (6/94) respectively. In total, 24% (23/94) of the rebiopsy samples and 60% (23/38) of the abnormal rebiopsy samples produced results involving the specific chromosome from the original mosaic result. Results are summarized in Table 1.Tabled 1Specific Mosaic Call ConcordanceExact Match910%No Result22%Not a Match6973%Partial Match (Original Chromosome included)89%Reciprocal Match66%Exact + Partial + Reciprocal2324%Grand Total94Summary of Rebiopsy ResultsNo Result22%Normal (Euploid)5457%Abnormal (Aneuploid)2223%Mosaic1617%Abnormal + Mosaic3840%Grand Total94 Open table in a new tab Current mosaic embryo transfer practices follow published guidelines which prioritize embryo selection based on the level of mosaicism, followed by the specific chromosome involved. While this data does not address the specific level of mosaicism, it does confirm the relevance of the specific mosaic chromosome reported, and therefore the counseling that should include addressing the specific risks associated with the particular chromosome including the reciprocal abnormality.