Gender Identification and Classification of Drosophila melanogaster Flies Using Machine Learning Techniques.

Drosophila melanogaster is an important genetic model organism used extensively in medical and biological studies. About 61% of known human genes have a recognizable match with the genetic code of Drosophila flies, and 50% of fly protein sequences have mammalian analogues. Recently, several investigations have been conducted in Drosophila to study the functions of specific genes exist in the central nervous system, heart, liver, and kidney. The outcomes of the research in Drosophila are also used as a unique tool to study human-related diseases. This article presents a novel automated system to classify the gender of Drosophila flies obtained through microscopic images (ventral view). The proposed system takes an image as input and converts it into grayscale illustration to extract the texture features from the image. Then, machine learning (ML) classifiers such as support vector machines (SVM), Naive Bayes (NB), and K-nearest neighbour (KNN) are used to classify the Drosophila as male or female. The proposed model is evaluated using the real microscopic image dataset, and the results show that the accuracy of the KNN is 90%, which is higher than the accuracy of the SVM classifier.

Fetal Sex Results of Noninvasive Prenatal Testing and Differences With Ultrasonography.

OBJECTIVE: To assess the causes of reported discordance between noninvasive prenatal testing (NIPT) and ultrasound or other clinical information. METHODS: In this retrospective, observational study, all cases in which single-nucleotide polymorphism (SNP)-based NIPT reported normal sex chromosomes and the laboratory was notified by the patient or health care provider of discordance between NIPT and observed or expected fetal sex from clinical information were reviewed. When discordances were unresolved after internal and external laboratory clerical data review or repeat ultrasound imaging, additional clinical records, genetic testing results and pregnancy outcomes were reviewed. RESULTS: Of the 1,301,117 eligible NIPT cases, fetal sex discordances were reported in 91 (0.007%; 1:14,300; 95% CI 1:11,600-1:17,800); partial or complete outcome information was available for 83 of 91 cases. In 30 of 83 (36%) cases, karyotyping was performed, and sufficient clinical information was provided to establish the diagnosis of disorders of sexual development. The disorders of sexual development were classified into three categories: 46,XY disorders of sexual development (n=19), 46,XX disorders of sexual development (n=4), and sex chromosome disorders of sexual development (n=7). In 28 of 83 (34%) cases, the cause of the apparent discrepancy was attributable to human error, predominantly phlebotomy labeling or ultrasound misassignment. In 25 of 83 cases, a diagnosis was not possible; the outcome reported was either abnormal (18/83, 22%) or no abnormalities were reported (7/83, 8%). When normal sex chromosomes were predicted by SNP-based NIPT and clinical information was discordant, disorders of sexual development were common. Internal laboratory clerical data review and re-imaging confirmed the NIPT fetal sex reports in 34% cases, providing reassurance that no further evaluation was necessary. CONCLUSION: Identification of apparent fetal sex discordances with NIPT results, and reporting this suspicion to the laboratory, provides an opportunity for further evaluation to identify the cause of apparent discordances and the involvement of a multi-disciplinary team, as necessary to prepare for postnatal care. We propose a protocol for evaluation of these cases. FUNDING SOURCE: This study was funded by Natera, Inc.

Worldwide tendency and focused research in forensic anthropology: A bibliometric analysis of decade (2008-2017).

PURPOSE: The objective of this study was to illustrate the global research productivity and tendency of forensic anthropology in recent ten years (2008-2017) by bibliometric analysis. METHODS: "Forensic anthropology" was used as the Medical Subject Headings term and topic in PubMed and Web of Science Core Collection. RESULTS: As 5130 articles retrieved, two independent investigators evaluated all of them respectively. After restricting the published year, excluding duplicated and irrelevant articles, 1663 articles were available. The total of 219 countries and regions contributed to this research and the United States was the most productive country. There were 201 peer-reviewed journals including all of articles and two of them were identified as core journals according to Bradford's law. Eight of the top 10 productive authors were from developed countries. The top 10 cited articles were published by authors from developed countries with half in the United States. Sex estimation and age estimation were the most popular topics. CONCLUSIONS: With the basic and recognized methodology administered in this study, it provided a relative broad view to evaluate the scientific research capacity of forensic anthropology and reveal the worldwide tendency in this field.

Diagnostic sensitivity of ultrasound, radiography and computed tomography for gender determination in four species of lizards.

Gender determination is frequently requested by reptile breeders, especially for species with poor or absent sexual dimorphism. The aims of the current study were to describe techniques and diagnostic sensitivities of ultrasound, radiography, and computed tomography for gender determination (identification of hemipenes) in four species of lizards. Nineteen lizards of known sex, belonging to four different species (Pogona vitticeps, Uromastyx aegyptia, Tiliqua scincoides, Gerrhosaurus major) were prospectively enrolled. With informed owner consent, ultrasound, noncontrast CT, contrast radiography, and contrast CT (with contrast medium administered into the cloaca) were performed in conscious animals. Imaging studies were reviewed by three different operators, each unaware of the gender of the animals and of the results of the other techniques. The lizard was classified as a male when hemipenes were identified. Nineteen lizards were included in the study, 10 females and nine males. The hemipenes were seen on ultrasound in only two male lizards, and appeared as oval hypoechoic structures. Radiographically, hemipenes filled with contrast medium appeared as spindle-shaped opacities. Noncontrast CT identified hemipenes in only two lizards, and these appeared as spindle-shaped kinked structures with hyperattenuating content consistent with smegma. Hemipenes were correctly identified in all nine males using contrast CT (accuracy of 100%). Accuracy of contrast radiography was excellent (94.7%). Accuracy of ultrasound and of noncontrast CT was poor (64.3% and 63.1%, respectively). Findings from the current study supported the use of contrast CT or contrast radiography for gender determination in lizards.

Impact of prenatal technologies on the sex ratio in India: an overview.

The fact that techniques of prenatal diagnosis are used in India and China to selectively eliminate females is widely known. It has been extensively reported in the international media and in scientific publications since the 1990s. The publication of the Census of India 2011 shows that the ratio of girls to boys below the age of 6 years continues to decline at an alarming rate. Following that publication, this topic has again received international attention. The aim of this article is to better inform the human genetics community of the magnitude of this practice and its consequences in India.In this overview, we examine the impact of prenatal technology on the sex ratio in India. We present facts and figures from the Census of India and other publications that show that the practice is wide spread throughout India, in urban and rural areas, among the rich and the poor, and among the educated and the illiterate. We also briefly discuss the possible causes, consequences, and solutions.

Policing the boundaries of sex: a critical examination of gender verification and the Caster Semenya controversy.

On August 19, 2009, Caster Semenya, South African track star, won a gold medal in the women's 800-meter event. According to media reports, on the same day, the International Association of Athletics Federations (IAAF) ordered Semenya to undergo gender verification testing. This article critically assesses the main concepts and claims that undergird international sport organizations' policies regarding "gender verification" or "sex testing." We examine the ways in which these policies operate through several highly contested assumptions, including that (a) sex exists as a binary; (b) sport is a level playing field for competitors; and (c) some intersex athletes have an unfair advantage over women who are not intersex and, as such, they should be banned from competition to ensure that sport is a level playing field. To conclude, we make three recommendations that are consistent with the attainment of sex and gender justice in sport, which include acknowledging that myriad physical advantages are accepted in sport, recognizing that sport as a level playing field is a myth, and eliminating sex testing in sport.

Diagnóstico genético prenatal no invasivo de factor Rh y sexo fetal a través del análisis de ADN fetal libre en plasma materno / Non invasive prenatal genetic diagnosis of fetal RhD and sex through the analysis of free fetal DNA in maternal plasma

Introducción. El análisis de ADN fetal libre en plasma materno permite estudiar material genético del feto sin realizar procedimientos invasivos sobre el embarazo. Objetivo. Evaluar la factibilidad y desempeño diagnóstico de la determinación del genotipo RhD y del sexo fetal a través del análisis molecularde ADN fetal libre en plasma de embarazadas mediante reactivos de uso general en biología molecular. Material y métodos. Se extrajeron 109 muestras de sangre de embarazadas. Se amplificó por PCR en tiempo real una porción del gen RhD para el diagnóstico de Rh fetal en mujeres Rh-negativas y una región del cromosoma Y para la determinación del sexo fetal. Ambos datos se compararon con los resultados neonatales. Resultados. Respecto de las 109 muestras, 26 embarazos están en curso, 4 tuvieron abortos espontáneos y en 3 se perdió el seguimiento. De las 76 restantes con resultado neonatal, en 65 mujeres Rh-negativas se efectuó el análisis del gen RhD para la determinación del Rh fetal y en 66 muestras se realizó la determinación del sexo fetal. Quince muestras fueron no concluyentes y se excluyeron del análisis. El valor predictivo para RhD-positivo y RhD-negativo fue 85 por ciento y 90%, respectivamente, mientras que la predicción de sexo masculino fue 94,3 por ciento y la del femenino 95 por ciento. Conclusiones. La determinación no invasiva del RhD y sexo fetal en plasma materno mediante reactivos de uso general en biología molecular fue factible en la mayoría de los casos, con un desempeño diagnóstico similar al descripto en la bibliografía.(AU)

Introduction. The analysis of free fetal DNA in maternal plasma allows the assessment of fetal genetic material avoiding the necessity of invasive procedures during pregnancy. Objective. To evaluate the feasibility and the diagnostic performance of fetal sex and fetal RhD detection through the analysis of free fetal DNA in maternal plasma using standard reagents in molecular biology. Material and methods. A hundred and nine blood samples of pregnant women were obtained obtained. Amplification by real time PCR a sequence from the RhD gene in Rh negative patients and a Y-chromosome sequence, for the diagnosis of fetal Rh and sex respectively, were performed. Results were compared with neonatal outcomes. Results. From the 109 samples, 26 are still ongoing, 4 ended in spontaneous abortions and in 3 were lost to follow up. From the remaining 76 samples with neonatal result, the determination of fetal Rh from the RhD gene was performed in 65 Rh negative women, whereas in 66 samples the fetal sex analysis was evaluated. Overall, 15 samples had not conclusive results and were excluded from the study. The predictive values for RhD positive and negative were 85 percent and 90 percent, respectively, while the prediction for male sex was 94.3 percent and for female sex 95 percent. Conclusion. The non invasive determination of fetal RhD and sex in maternal plasma using standard reagents in molecular biology was feasible in the majority of the samples, with a diagnostic performance similar to the reported in the literature.(AU)

Does sex of children matter? Implications for fertility in Pakistan.

Preference for children of either sex is considered a constraint on fertility decline as it induces many couples to keep adding on surviving children in the hope of having a desired sex composition of children. However, preferences for children of a particular sex may differ in relation to demographic and socioeconomic characteristics of women, traditional values and cultural practices, such as propagating a family name, providing economic advantages, and obtaining a medium of social and economic security in times of illness, unemployment and old age. Utilizing the Pakistan Integrated Household Survey (2001-02), this paper aims at investigating the existence of sex preference and examines sex preference differentials by different attributes of women in Pakistan. The results reveal that there is a desire to have another child in the presence of all children of one sex, either sons or daughters. The desire to have a son with only or mostly daughters, however, is stronger than the desire to have a daughter with only or mostly sons. This behaviour will retard fertility decline unless there is a shift in the desire to have children of both sexes in Pakistan.

Are dental indexes useful in sex assessment?

This study describes sexual dimorphism in dental indexes derived from the permanent dentition. Three dental indices--'crown area,' 'crown module' and 'crown index'--were calculated from the buccolingual (BL) and mesiodistal (MD) measurements of 123 permanent dentitions (58 females and 65 males) belonging to young Nepalese adults (age-range 19-28 years). Sex differences in the dental indexes were assessed using univariate and multivariate statistics and compared to that of linear measurements reported previously on the same sample. Univariate sex dimorphism exhibited by crown area and crown module was similar to that of linear measurements whereas crown index displayed marked variation. The unusual results shown by the latter is explained as the result of it not being a representation of tooth size per se; rather, crown index is an expression of the difference between BL and MD dimensions and may be better suited as an indicator of tooth 'shape'. Stepwise discriminant analyses undertaken for the indices gave moderate to high accuracy rates in sexing (69.8-81.1%). However, this is lower to the classification accuracy reported for linear measurements. Therefore, it is concluded that dental indexes have no added utility in forensic sex assessment.

Epidemiology and initial management of ambiguous genitalia at birth in Germany.

BACKGROUND: In this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management strategies. METHODS: We used the registry for rare diseases in pediatrics in Germany to ascertain cases and asked reporting institutions for information on phenotype, laboratory tests, imaging results, diagnosis, initial management and sex assignment. RESULTS: We identified 80 cases within a 2-year study period and calculated an incidence of 2 per 10,000 births with ambiguous genitalia per year in Germany. Prevalence was higher in infants from non-German family background. In more than 50% of all infants a definite diagnosis was lacking even at the age of 6 months. In those cases where the etiology was confirmed, the most common diagnosis was congenital adrenal hyperplasia, followed by androgen insensitivity syndrome and mixed gonadal dysgenesis. Associated malformations were very common, affecting 37.5% of all infants. Sex assignment was female in 46,XY infants with predominately female phenotype and all 46,XX infants. Early surgery was performed in many cases irrespective whether a definite diagnosis had been established or not. Integrated psychosocial care was the exception rather than the rule. CONCLUSIONS: Classification and management of ambiguous genitalia at birth remain a challenge for all professionals involved. National and international registries may help to provide a better understanding of the incidence and clinical course of such disorders.

Declining sex ratio: role of society, technology and government regulation in Faridabad district, Haryana.

BACKGROUND: A declining sex ratio at birth has been documented during censuses in India. The decline is especially more in the northern states of Haryana and Punjab. We attempted to assess the role of society (preference for a male child, awareness and acceptability of the practice of sex determination), technology (availability and affordability) and government regulation in the adverse ratio for girls in the Ballabgarh block of Haryana in northern India. METHODS: The population (about 80 000) in the Ballabgarh block has been under constant demographic surveillance for the past 30 years and the data are stored electronically. This was used to determine the sex ratio at birth in the area since 1990. The data on availability of ultrasound machines was collected from the district authorities, as registration of these machines was made mandatory under the Prenatal Diagnostic Techniques Act, 1994. We interviewed 160 mothers and grandmothers to determine the awareness and acceptability of sex determination methods and practices. RESULTS: The demographic data for the past 10 years showed a declining sex ratio-from 881 in 1990-91 to 833 in 2000-01. The data support the view that in the initial part of this period, ultrasound was used for sex determination of all-order births but subsequently was used more in higher-order births. Our interviews with the mothers and grandmothers of the area showed that the practice of sex determination is prevalent and the attitude of the society is ambivalent. The increased availability of ultrasound machines in the area in the past 10 years corresponded to the decline in sex ratio. When the government made the practice illegal, the sex ratio improved only to fall again as the law was not implemented. Later years saw a more stringent implementation of the law and the sex ratio improved again. CONCLUSION: There is a 'demand' for sex determination technology and, therefore, this would continue to be 'supplied'. At most the 'supply' can be regulated. Social engineering efforts need to be targeted at reducing the demand if the sex ratio is to be improved.

Sex determination by discriminant function analysis of the right tibia in the prehispanic population of the Canary Islands.

This study has been performed in order to define standards usable to determine the sex of prehispanic individuals from the Canary Islands from their skeletal remains. Osteometric information at the right tibia was obtained from 59 complete skeletons from Gran Canaria, housed in the Museo Canario (Las Palmas), 45 males and 14 females (this constitutes the totality of complete prehispanic skeletons known from Gran Canaria). The parameters measured were: tibial length, proximal and distal epiphyseal breadth, transverse and anteroposterior diameter, perimeter at the nutrition foramen levels and minimum shaft perimeter. These parameters were subjected to different SPSS discriminant function analysis, combining all of them, or only the proximal or distal ones, without tibial length, etc., in order to obtain functions usable even if only bone fragments are available. Transverse diameter, proximal epiphyseal breadth and minimum shaft perimeter showed the highest discriminant power. The functions obtained showed high average accuracies, ranging from 94.9 to 98.3%, with female accuracies of 100%. The functions obtained were further applied to a test prehispanic population (ten males and ten females) from El Hierro. Overall accuracies of the functions when applied to this population ranged from 65 to 94.7%, with female accuracies ranging 80% to 100%.