Determination of sex is a process by which scientists and medical professionals determine the biological sex of a person or other animal using genetics and biological sexual traits. It is not to be confused with sex assignment which is a more recent colloquial term that allows for the use of non-sexual or non-genetic traits to define a person's sex.
Primary sex determination is the determination of the gonads. In mammals, including humans, primary sex determination is strictly chromosomal and is not usually influenced by the environment. [1] Hence, the gonads are usually indicative of the biological sex. This direct correlation allows scientists and medical professionals the option to determine biological sex using gonads. When the purpose is to distinguish male vs. female in animals, this is sexing.
Genetic sequencing is a second way for a scientist to determine biological sex in both humans and animals (distinct from sexing). It became widely available and popular at the turn of the century. [2] Genetic sequencing also allows for the determination of rare genetic events when the y chromosome is incomplete and a male animal has female gonads. [3]
Prenatal sex determination is prenatal testing for discerning the sex of a person or other animal before birth. Techniques include:
Currently, the determination of sex by physicians at the time of birth is used in medicine for health care purposes and the standard of care in medicine is biological sex. [4] However this has become controversial and could change in the future. [5]
In writing, the term "Determination of sex" peaked in usage around 1910. [6] [7] The term "sex determination" increased in usage after 1900. [8] In the 1960 and early 70's the term "sex assignment" came into prominent use as a colloquially word for "determination of sex" and "sex determination". "Sex assignment" did not occur in writing prior to the 1960's. It is used ~100 times less frequently than "determination of sex". See figure. [9]
Sex is the biological trait that determines whether a sexually reproducing organism produces male or female gametes. During sexual reproduction, a male and a female gamete fuse to form a zygote, which develops into an offspring that inherits traits from each parent. By convention, organisms that produce smaller, more mobile gametes are called male, while organisms that produce larger, non-mobile gametes are called female. An organism that produces both types of gamete is hermaphrodite.
A sex organ, also known as a reproductive organ, is a part of an organism that is involved in sexual reproduction. Sex organs constitute the primary sex characteristics of an organism. Sex organs are responsible for producing and transporting gametes, as well as facilitating fertilization and supporting the development and birth of offspring. Sex organs are found in many species of animals and plants, with their features varying depending on the species.
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation.
Sexual differentiation is the process of development of the sex differences between males and females from an undifferentiated zygote. Sex determination is often distinct from sex differentiation; sex determination is the designation for the development stage towards either male or female, while sex differentiation is the pathway towards the development of the phenotype.
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
Virilization or masculinization is the biological development of adult male characteristics in young males or females. Most of the changes of virilization are produced by androgens.
Sex assignment is the discernment of an infant's sex, typically made at birth based on an examination of the baby's external genitalia by a healthcare provider such as a midwife, nurse, or physician. In the vast majority of cases (99.95%), sex is assigned unambiguously at birth. However, in about 1 in 2000 births, the baby's genitalia may not clearly indicate male or female, necessitating additional diagnostic steps, and deferring sex assignment.
Sex selection is the attempt to control the sex of the offspring to achieve a desired sex. It can be accomplished in several ways, both pre- and post-implantation of an embryo, as well as at childbirth. It has been marketed under the title family balancing.
Sex determination may refer to:
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics.
Sexual differentiation in humans is the process of development of sex differences in humans. It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. Sexual differentiation includes development of different genitalia and the internal genital tracts and body hair plays a role in sex identification.
The development of fishes is unique in some specific aspects compared to the development of other animals.
Sexual orientation is an enduring pattern of romantic or sexual attraction to persons of the opposite sex or gender, the same sex or gender, or to both sexes or more than one gender, or none of the aforementioned at all. The ultimate causes and mechanisms of sexual orientation development in humans remain unclear and many theories are speculative and controversial. However, advances in neuroscience explain and illustrate characteristics linked to sexual orientation. Studies have explored structural neural-correlates, functional and/or cognitive relationships, and developmental theories relating to sexual orientation in humans.
Prenatal sex discernment is the prenatal testing for discerning the sex of a fetus before birth.
Natera, Inc. is a clinical genetic testing company based in Austin, Texas that specializes in non-invasive, cell-free DNA (cfDNA) testing technology, with a focus on women’s health, cancer, and organ health. Natera’s proprietary technology combines novel molecular biology techniques with a suite of bioinformatics software that allows detection down to a single molecule in a tube of blood. Natera operates CAP-accredited laboratories certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, California and Austin, Texas.
Sex reversal is a biological process whereby the pathway directed towards the already determined-sex fate is flipped towards the opposite sex, creating a discordance between the primary sex fate and the sex phenotype expressed. The process of sex reversal occurs during embryonic development or before gonad differentiation. In GSD species, sex reversal means that the sexual phenotype is discordant with the genetic/chromosomal sex. In TSD species, sex reversal means that the temperature/conditions that usually trigger the differentiation towards one sexual phenotype are producing the opposite sexual phenotype.
Cell-free fetal DNA (cffDNA) is fetal DNA that circulates freely in the maternal blood. Maternal blood is sampled by venipuncture. Analysis of cffDNA is a method of non-invasive prenatal diagnosis frequently ordered for pregnant women of advanced maternal age. Two hours after delivery, cffDNA is no longer detectable in maternal blood.
Dennis Lo Yuk-ming is a Hong Kong molecular biologist, best known for his contributions to the development of non-invasive prenatal testing.
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. Mosaic loss of the Y chromosome in previously non-mosaic men grows increasingly common with age.
Noninvasive prenatal testing (NIPT) is a method used to determine the risk for the fetus being born with certain chromosomal abnormalities, such as trisomy 21, trisomy 18 and trisomy 13. This testing analyzes small DNA fragments that circulate in the blood of a pregnant woman. Unlike most DNA found in the nucleus of a cell, these fragments are not found within the cells, instead they are free-floating, and so are called cell free fetal DNA (cffDNA). These fragments usually contain less than 200 DNA building blocks and arise when cells die, and their contents, including DNA, are released into the bloodstream. cffDNA derives from placental cells and is usually identical to fetal DNA. Analysis of cffDNA from placenta provides the opportunity for early detection of certain chromosomal abnormalities without harming the fetus.
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