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Genetic testing is the analysis of human genes, proteins, and certain metabolites, in order to detect inherited disease-related propensities. These tests can predict the risk of disease in adults, as well as establish prenatal and infant prognoses. [1] The benefits can be substantial, but so can the risks.
The goal of prenatal genetic testing is to identify pregnancies at high risk of abnormalities, allowing for early intervention, termination or appropriate management and preparation measures. [35] Prenatal genetic testing can be subdivided into two categories: screening and diagnostic testing.
PUBS provides a means of rapid chromosome analysis and is useful when information cannot be obtained through amniocentesis, chorionic villus sampling, or ultrasound (or if the results of these tests were inconclusive); this test carries a significant risk of complication and is typically reserved for pregnancies determined to be at high risk ...
Prenatal genetic testing is done to screen for genetic conditions known as fetal aneuploidy, such as Down syndrome, in which a fetus has one or more extra chromosomes or the absence of one or more ...
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Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. [23] Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent .
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. [ 1 ] [ 2 ] [ 3 ] This testing analyzes small DNA fragments that circulate in the blood of a pregnant woman. [ 4 ]
Disease testing: Whether the sex of the fetus is male or female allows the determination of the risk of a particular X-linked recessive genetic disorder in a particular pregnancy, especially where the mother is a genetic carrier of the disorder. [41] Preparation, for any sex-dependent aspects of parenting. [citation needed]