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DNA paternity testing uses DNA profiles to determine whether an individual is the
biological Biology is the scientific study of life and living organisms. It is a broad natural science that encompasses a wide range of fields and unifying principles that explain the structure, function, growth, origin, evolution, and distribution of ...
parent of another individual. Paternity testing can be essential when the rights and duties of the father are in issue, and a child's
paternity Paternity may refer to: *Father, the male parent of a (human) child *Paternity (law), fatherhood as a matter of law * ''Paternity'' (film), a 1981 comedy film starring Burt Reynolds * "Paternity" (''House''), a 2004 episode of the television seri ...
is in doubt. Tests can also determine the likelihood of someone being a biological grandparent. Though genetic testing is the most reliable standard, older methods also exist, including ABO blood group typing, analysis of various other
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
s and
enzyme An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
s, or using
human leukocyte antigen The human leukocyte antigen (HLA) system is a complex of genes on chromosome 6 in humans that encode cell-surface proteins responsible for regulation of the immune system. The HLA system is also known as the human version of the major histo ...
antigen In immunology, an antigen (Ag) is a molecule, moiety, foreign particulate matter, or an allergen, such as pollen, that can bind to a specific antibody or T-cell receptor. The presence of antigens in the body may trigger an immune response. ...
s. The current paternity testing techniques are
polymerase chain reaction The polymerase chain reaction (PCR) is a method widely used to make millions to billions of copies of a specific DNA sample rapidly, allowing scientists to amplify a very small sample of DNA (or a part of it) sufficiently to enable detailed st ...
(PCR) and
restriction fragment length polymorphism In molecular biology, restriction fragment length polymorphism (RFLP) is a technique that exploits variations in homologous DNA sequences, known as polymorphisms, populations, or species or to pinpoint the locations of genes within a sequence. T ...
(RFLP). Paternity testing can now also be performed while the woman is still pregnant from a blood draw. DNA testing is currently the most advanced and accurate technology to determine parentage. In a DNA paternity test, the result (called the 'probability of parentage) is 0% when the alleged parent is not biologically related to the child, and the probability of parentage is typically 99.99% when the alleged parent is biologically related to the child. However, while almost all individuals have a single and distinct set of genes, rare individuals, known as " chimeras", have at least two different sets of genes. This can lead to complications during DNA analysis, such as false negative results if their reproductive tissue has a different genetic makeup from the tissue sampled for the test.


Paternity or maternity testing for child or adult

The DNA test is conducted by collecting buccal (cheek) cells found on the inside of a person's cheek using a buccal or cheek swab. These swabs have handles made of wood or plastic with a cotton synthetic tip. The collector rubs the inside of a person's cheek to collect as many buccal cells as possible, which are then sent to a laboratory for testing. Samples from both the alleged father or mother and the child are required for the test.


Prenatal paternity testing for unborn child


Invasive prenatal paternity testing

It is possible to determine who the biological father of the fetus is while the woman is still pregnant through a procedure known as
chorionic villus sampling Chorionic villus sampling (CVS), sometimes called "chorionic ''villous'' sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis done to determine chromosomal or genetic disorders in the fetus. It en ...
or
amniocentesis 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 ...
. Chorionic villus sampling retrieves placental tissue, which can be done either through the cervix (transcervical) or the abdominal wall (transabdominal). Amniocentesis involves collecting amniotic fluid by inserting a needle through the pregnant mother's abdominal wall. Both procedures are highly accurate because they obtain samples directly from the fetus. However, there is a small risk of miscarriage associated with them, which could result in the loss of the pregnancy. Both CVS and amniocentesis require the pregnant woman to consult a maternal-fetal medicine specialist who will perform the procedure.


Non-invasive prenatal paternity testing

Recent advances in
genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
have led to the ability to identify the biological father while the woman is still pregnant. A small quantity of cell-free fetal DNA ( cffDNA) is present in the mother's blood during pregnancy. This allows for accurate paternity testing during pregnancy from a blood draw without any risk of miscarriage. Research indicates that cffDNA can first be detected as early as seven weeks into the pregnancy, and its quantity increases as the pregnancy continues.


DNA profiling

The
DNA Deoxyribonucleic acid (; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of al ...
of an individual is identical in all somatic (non reproductive) cells. During
sexual reproduction Sexual reproduction is a type of reproduction that involves a complex life cycle in which a gamete ( haploid reproductive cells, such as a sperm or egg cell) with a single set of chromosomes combines with another gamete to produce a zygote tha ...
, the DNA from both parents combines to create a unique genetic makeup in a new cell. As a result, an individual's genetic material is derived equally from each parent. This genetic material is referred to as the nuclear
genome A genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as ...
because it is located in the nucleus of a cell. Autosomal DNA testing allows for a comparison between the child's DNA, the mother's DNA, and the alleged father's DNA. By examining the genetic contribution from the mother, researchers can determine possible genotypes for the actual father. Specific sequences are examined to see if they were copied verbatim from one individual's genome; if so, then the genetic material of one individual could have been derived from that of the other (i.e. one is the parent of the other). If the alleged father cannot be excluded as the true father, then statistical analysis can be performed to assess how likely it is that the alleged father is the true father compared to a random man. In addition to nuclear DNA,
mitochondria A mitochondrion () is an organelle found in the cells of most eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is us ...
contain their own genetic material known as
mitochondrial DNA Mitochondrial DNA (mtDNA and mDNA) is the DNA located in the mitochondrion, mitochondria organelles in a eukaryotic cell that converts chemical energy from food into adenosine triphosphate (ATP). Mitochondrial DNA is a small portion of the D ...
. This mitochondrial DNA is inherited solely from the mother and is passed down without any mixing. As a result, establishing a relationship through the comparison of the mitochondrial genome is generally easier than doing so with the nuclear genome. However, testing the mitochondrial DNA can only confirm whether two individuals share a maternal ancestry; it cannot be used to determine paternity. Therefore, its application is somewhat limited. In testing the paternity of a male child, the
Y chromosome The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. Along with the X chromosome, it is part of the XY sex-determination system, in which the Y is the sex-determining chromosome because the presence of the ...
can be used for comparison, as it is inherited directly from father to son. Like mitochondrial DNA, the Y chromosome is passed down through the paternal line. This means that the two brothers share the same Y chromosome from their father. Therefore, if one brother is the alleged father, his biological brother could also be the father based solely on Y chromosomal data. This holds true for any male relative related to the suspected father along the paternal line. For this reason, autosomal DNA testing would provide a more accurate method for determining paternity. In the US, the
AABB AABB (Association for the Advancement of Blood & Biotherapies) is an international, not-for-profit organization representing individuals and institutions involved in the field of transfusion medicine and biotherapies. The association works coll ...
has established regulations for DNA paternity and family relationship testing, although AABB accreditation is not mandatory. DNA test results can be considered legally admissible if the collection and processing adhere to a proper chain of custody. Similarly, in Canada, the SCC has regulations on DNA paternity and relationship testing, while accreditation is recommended, it is not required. The Paternity Testing Commission of the
International Society for Forensic Genetics The International Society for Forensic Genetics – ISFG is an international non-profit scientific society founded in 1968. The main goal of the society is to advance the field of forensic genetics, also termed DNA profiling, through disseminatio ...
is responsible for creating biostatistical recommendations by the
ISO/IEC 17025 ISO/ IEC 17025 General requirements for the competence of testing and calibration laboratories is the main standard used by testing and calibration laboratories. In most countries, ISO/IEC 17025 is the standard for which most labs must hold accr ...
standards. Biostatistical evaluations of paternity should be based on the likelihood ratio principle, resulting in the
Paternity Index In paternity testing, Paternity Index (PI) is a calculated value generated for a single genetic marker or locus (chromosomal location or site of DNA sequence of interest) and is associated with the statistical strength or weight of that locus in f ...
(PI). These recommendations offer guidance on the concepts of genetic hypotheses, calculation concerns necessary for producing valid PIs, as well as addressing specific issues related to
population genetics Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as Adaptation (biology), adaptation, s ...
.


History

Parental testing has evolved significantly since the 1920s. The earliest method was blood typing, relying on the inheritance of blood types discovered in 1901. In blood typing, the
blood type A blood type (also known as a blood group) is based on the presence and absence of antibody, antibodies and Heredity, inherited antigenic substances on the surface of red blood cells (RBCs). These antigens may be proteins, carbohydrates, glycop ...
s, of the child and the alleged parents are compared to assess the possibility of a parental linkage. For instance, two type O parents can only have type O children, while type B parents can have type B or O offspring. However, this method was limited, excluding about 30% of potential parents based solely on blood type. In the 1930s,
serological Serology is the scientific study of serum and other body fluids. In practice, the term usually refers to the diagnostic identification of antibodies in the serum. Such antibodies are typically formed in response to an infection (against a given mi ...
testing improved the process by examining proteins in the blood, with an exclusion rate of around 40%. The 1960s brought Human Leukocyte Antigen ( HLA) typing, which compared genetic markers in white blood cells, achieving about 80% accuracy but struggling to differentiate between close relatives. The 1970s saw advancements with the discovery of
restriction enzyme A restriction enzyme, restriction endonuclease, REase, ENase or'' restrictase '' is an enzyme that cleaves DNA into fragments at or near specific recognition sites within molecules known as restriction sites. Restriction enzymes are one class o ...
, leading to Restriction Fragment Length Polymorphism (
RFLP In molecular biology, restriction fragment length polymorphism (RFLP) is a technique that exploits variations in homologous DNA sequences, known as polymorphisms, populations, or species or to pinpoint the locations of genes within a sequence. T ...
) testing in the 1980s, which offered high accuracy. By the 1990s, Polymerase Chain Reaction ( PCR) became the standard, providing faster, simpler, and more accurate results with exclusion rates of 99.99% or higher, revolutionizing parental testing in both legal and familial matters.


Legal evidence

A DNA parentage test that adheres to a strict
chain of custody Chain of custody (CoC), in legal contexts, is the chronological documentation or paper trail that records the sequence of custody, control, transfer, analysis, and disposition of materials, including physical or electronic evidence. Of particul ...
can produce legally admissible results used for various purposes, including child support, inheritance, social welfare benefits, immigration, and adoption. To meet the chain-of-custody legal requirements, all tested individuals must be properly identified, and their specimens must be collected by an independent third-party who is not related to any of the tested parties and has no interest in the test's outcome. The quantum of evidence needed is
clear and convincing evidence In a legal dispute, one party has the burden of proof to show that they are correct, while the other party has no such burden and is presumed to be correct. The burden of proof requires a party to produce evidence to establish the truth of facts ...
, meaning that it is more substantial than in an ordinary civil case but less than the “beyond a reasonable doubt” standard needed for a criminal conviction. In recent years, immigration authorities in multiple countries- including the United States, United Kingdom, Canada, Australia, France, and others, may accept DNA parentage test results from immigration petitioners and beneficiaries in a family-based immigration case when primary documents that prove biological relationships are missing or inadequate. In the U.S., it is the responsibility of immigration applicants to arrange and cover the cost of DNA testing. U.S. immigration authorities mandate that any DNA test performed must be conducted by a laboratory accredited by the
AABB AABB (Association for the Advancement of Blood & Biotherapies) is an international, not-for-profit organization representing individuals and institutions involved in the field of transfusion medicine and biotherapies. The association works coll ...
(formerly the American Association of Blood Banks). Similarly, in Canada, the laboratory must be certified by the
Standards Council of Canada The Standards Council of Canada (SCC) () is a Canadians, Canadian Crown corporations of Canada#List of federal Crown corporations, crown corporation with the mandate to promote voluntary standardization in Canada. The SCC is responsible for: * ...
. Although paternity tests are more prevalent than maternity tests, there are situations where the biological mother of the child is uncertain. Examples include cases in which an adopted child seeks to reunite with their biological mother, potential hospital mix-ups, and
in vitro fertilization In vitro fertilisation (IVF) is a process of fertilisation in which an egg is combined with sperm in vitro ("in glass"). The process involves monitoring and stimulating the ovulatory process, then removing an ovum or ova (egg or eggs) from ...
scenarios where an unrelated embryo may have been implanted in the mother. Other factors, such as new laws regarding reproductive technologies involving donated eggs and sperm or surrogate mothers, can also complicate the determination of legal motherhood. For instance, in Canada, the federal ''Human Assisted Reproduction Act'' allows for the use of hired surrogate mothers, meaning that the legal mother may be the egg donor rather than the woman who gave birth. Similar laws exist in the United Kingdom and Australia. In Brazil in 2019, two male identical twins were ordered to both pay maintenance for a child fathered by one of them because the father could not be identified with DNA.


Legal issues


Australia

Peace-of-mind parentage tests are readily available online. However, for a parentage test (whether paternity or maternity) to be admissible in legal matters—such as changing a birth certificate, proceeding with Family Law Court cases, applying for visas or citizenship, or making child support claims—it must comply with the Family Law Regulations 1984 (Cth). Additionally, the laboratory that processes the samples must be accredited by the National Association of Testing Authorities (NATA).


Canada

Personal paternity-testing kits are available for use. In Canada, the Standards Council regulates paternity testing, ensuring that laboratories are ISO 17025 approved. Only a limited number of laboratories possess this approval, making it advisable to have tests conducted at these accredited facilities. Additionally, courts can order paternity tests during divorce proceedings.


China

In
China China, officially the People's Republic of China (PRC), is a country in East Asia. With population of China, a population exceeding 1.4 billion, it is the list of countries by population (United Nations), second-most populous country after ...
, paternity testing is legally available for fathers who suspect that a child may not be theirs. Chinese law also mandates a paternity test for any child born outside the
one-child policy The one-child policy ( zh, c=一孩政策, p=yī hái zhèngcè) was a population planning initiative in China implemented between 1979 and 2015 to curb the country's population growth by restricting many families to a single child. The progr ...
in order for the child to be eligible for a ''
Hukou ''Hukou'' ( zh, c=户口, l=household individual) is a system of household registration used in the People's Republic of China. The system itself is more properly called ''huji'' ( zh, c=户籍, l=household origin), and has origins in Histo ...
'', which is a family registration record. Additionally, family ties established by adoption can only be confirmed through a paternity test. Each year, a significant number of Chinese citizens seek paternity testing, leading to the emergence of many unlicensed and illegal testing centers being set up.


France

DNA paternity testing is conducted only at the discretion of a judge during judicial proceedings aimed at either establishing or contesting paternity, or for the purposes of obtaining or denying child support. Non-consensual private DNA paternity testing is illegal, even if carried out through laboratories in other countries. Violation of this law is punishable by up to one year in prison and a fine of €15,000. The French Council of State has described the purpose of this law as upholding the "French regime of filiation" and preserving "the peace of families".


Germany

Under the Gene Diagnostics Act of 2009, secret paternity testing is prohibited. Any paternity test must be conducted by a licensed physician or an expert with a university degree in science and specialized education in parentage testing. Additionally, the laboratory performing the genetic testing must be accredited according to
ISO/IEC 17025 ISO/ IEC 17025 General requirements for the competence of testing and calibration laboratories is the main standard used by testing and calibration laboratories. In most countries, ISO/IEC 17025 is the standard for which most labs must hold accr ...
. Full informed consent from both parents is required for testing. Prenatal paternity testing is also prohibited, except in cases of sexual abuse and rape. If genetic testing is performed without the other parent's consent, the offender may face a fine of €5,000. Furthermore, due to an amendment to civil la
section 1598a
in 2005, a man who contests paternity no longer automatically loses his legal rights and obligations regarding the child.


Israel

A paternity test that holds legal standing must be ordered by a family court. Although parents can access "peace of mind" parental tests from overseas laboratories, family courts are not obliged to accept these tests as evidence. Additionally, it is illegal to collect genetic material for a paternity test from a minor over 16 years of age without the minor's consent. Family courts have the authority to order paternity tests even against the father's wishes in cases involving divorce, child support, and other matters like determining heirs or settling population registry questions. A man who wishes to prove that he is not the father of a child registered as his is entitled to a paternity test, regardless of the mother and guardian's objections. Paternity tests are not conducted if there is a belief that it could lead to the mother's death. Until 2007, such tests were also not ordered when there was a possibility that the child of a married woman could have been fathered by a man other than her husband, which would designate the child as a ''
mamzer In the Hebrew Bible and Jewish religious law, a ''mamzer'' (, , "estranged person"; plural ''mamzerim'') is a person who is born as the result of certain forbidden relationships or incest (as it is defined by the Bible), or the descendant of s ...
'' under Jewish law.


Philippines

DNA paternity testing for personal knowledge is legal, and home test kits can be obtained by mail from representatives of AABB- and ISO-certified laboratories. However, DNA paternity testing intended for official purposes, such as child support (sustento) and inheritance disputes, must adhere to the Rule on DNA Evidence A.M. No. 06-11-5-SC, which was issued by the Philippine Supreme Court on October 15, 2007. In some cases, courts may order these tests when proof of paternity is needed.


Spain

In
Spain Spain, or the Kingdom of Spain, is a country in Southern Europe, Southern and Western Europe with territories in North Africa. Featuring the Punta de Tarifa, southernmost point of continental Europe, it is the largest country in Southern Eur ...
, peace-of-mind paternity tests are a "big business," partly due to the French ban on paternity testing, with many genetic testing companies being based in Spain.


United Kingdom

In the
United Kingdom The United Kingdom of Great Britain and Northern Ireland, commonly known as the United Kingdom (UK) or Britain, is a country in Northwestern Europe, off the coast of European mainland, the continental mainland. It comprises England, Scotlan ...
, there were previously no restrictions on paternity tests until the '' Human Tissue Act 2004'' came into effect in September 2006. Section 45 of this Act states that it is an offense to possess any human bodily material without appropriate consent if the intent is to analyze its DNA. Legally recognized fathers are allowed access to paternity-testing services under these new regulations, provided that the DNA being tested is their own. Courts may sometimes order tests when proof of paternity is necessary. In the UK, the
Ministry of Justice A justice ministry, ministry of justice, or department of justice, is a ministry or other government agency in charge of the administration of justice. The ministry or department is often headed by a minister of justice (minister for justice in a ...
accredits organizations that are authorized to conduct these tests. The
Department of Health A health department or health ministry is a part of government which focuses on issues related to the general health of the citizenry. Subnational entities, such as states, counties and cities, often also operate a health department of their o ...
produced a voluntary code of practice on genetic paternity testing in 2001, which is currently under review. Responsibility for this code has been transferred to the Human Tissue Authority. In the 2018 case o
Anderson V Spencer
the Court of Appeal allowed DNA samples obtained from a deceased person to be used for paternity testing for the first time.


United States

In the
United States The United States of America (USA), also known as the United States (U.S.) or America, is a country primarily located in North America. It is a federal republic of 50 U.S. state, states and a federal capital district, Washington, D.C. The 48 ...
, paternity testing is entirely legal, and fathers may test their children without the consent or knowledge of the mother. Paternity testing take-home kits are readily available for purchase, though their results are not admissible in court and are for personal knowledge only. Only a court-ordered paternity test may be used as evidence in court proceedings. If parental testing is being submitted for legal purposes, including immigration, testing must be ordered through a lab that has
AABB AABB (Association for the Advancement of Blood & Biotherapies) is an international, not-for-profit organization representing individuals and institutions involved in the field of transfusion medicine and biotherapies. The association works coll ...
accreditation for relationship DNA testing. The legal implications of a parentage result test vary by state and according to whether the putative parents are unmarried or married. If a parentage test does not meet forensic standards for the state in question, a court-ordered test may be required for the results of the test to be admissible for legal purposes. For unmarried parents, if a parent is currently receiving child support or custody, but DNA testing later proves that the man is not the father, support automatically stops. However, in many states, this testing must be performed during a narrow window of time if a voluntary acknowledgment of parentage form has already been signed by the putative father; otherwise, the results of the test may be disregarded by law, and in many cases, a man may be required to pay child support, though the child is biologically unrelated. In a few states, if the mother is receiving the support, then that alleged father has the right to file a lawsuit to get back any money that he lost from paying support. As of 2011, in most states, unwed parents confronted with a voluntary acknowledgment of parentage form are informed of the possibility and right to request a DNA paternity test. If testing is refused by the mother, the father may not be required to sign the
birth certificate A birth certificate is a vital record that documents the Childbirth, birth of a person. The term "birth certificate" can refer to either the original document certifying the circumstances of the birth or to a certified copy of or representation ...
or the voluntary acknowledgement of parentage form for the child. For wedded putative parents, the husband of the mother is presumed to be the father of the child. But, in most states, this presumption can be overturned by the application of a forensic paternity test; in many states, the time for overturning this presumption may be limited to the first few years of the child's life.


Reverse paternity testing

Reverse paternity determination is the ability to establish the biological father when the father of that person is not available. The test uses the STR
alleles An allele is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule. Alleles can differ at a single position through single nucleotide polymorphisms (SNP), but they can also have insertions and deletions ...
in the mother and her child, other children and brothers of the alleged father, and the deduction of the genetic constitution of the father by the basis of genetic laws, all to create a rough amalgamation. This can compare the father's DNA when a direct sample of the father's DNA is unavailable. An episode of '' Solved'' shows this test being used to know if a blood sample matches the victim of a kidnapping.


See also

*
Paternity fraud Paternity fraud is one form of misattributed paternity or paternal discrepancy. Specifically, paternity fraud is the intentional misidentification of a child's biological father. Paternity fraud is distinct from other, unintentional misattribut ...
* Mosaicism and chimerism, rare genetic conditions that can result in false negative results on DNA-based tests *
Non-paternity event In genetics, a non-paternity event (also known as misattributed paternity, not parent expected, or NPE) occurs when an individual's presumed father is not in fact their biological father. This is a type of misattributed parentage experience (MPE) ...
* '' Lauren Lake's Paternity Court'', a television series that debuted in fall 2013 Genetic: *
Heritability Heritability is a statistic used in the fields of Animal husbandry, breeding and genetics that estimates the degree of ''variation'' in a phenotypic trait in a population that is due to genetic variation between individuals in that population. T ...
* List of Mendelian traits in humans


References

* *


External links


UK paternity testing regulations
per the Human Tissue Authority {{DEFAULTSORT:Parental Testing Applied genetics DNA Family law Fathers' rights Forensic genetics Genetics techniques Parenting Testing