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 What Is Reproductive Genetic Testing?
by www.DNApolicy.org
Reproductive genetic testing refers to those genetic tests and
procedures that are used to provide prospective parents with
information about their chances of having a child with a specific
genetic disorder or characteristic in a current or future pregnancy.
Reproductive genetic testing includes:
- (1) carrier testing, which is done to determine whether an individual carries one copy of an altered gene for a particular recessive condition;
- (2) prenatal genetic testing, in which fetal cells obtained through procedures such as amniocentesis and chorionic villus sampling (CVS) are genetically tested; and
- (3) preimplantation genetic diagnosis (PGD), in which embryos produced through in vitro fertilization are genetically tested to select which embryos to transfer to a womans uterus.
Genetic Testing (Genetic profile, Genetic Profiling) is the laboratory analysis of DNA, RNA or chromosomes. Reproductive genetic testing can also involve analysis of proteins or metabolites that are the products of genes. Reproductive genetic testing is done to predict risk of disease, screen newborns for disease, identify carriers of genetic disease, establish prenatal or clinical diagnoses or prognoses and direct clinical care. Reproductive genetic testing can be done using many different biological samples, including blood, amniotic fluid (from which fetal cells are obtained) or individual embryonic cells.
Carrier testing is reproductive genetic testing to determine whether an individual carries one copy of an altered gene for a particular recessive condition. Carrier testing is done because of a family history of a genetic disorder or because of racial or ethnic background. Examples of autosomal recessive disorders that are more frequent in certain populations for which carrier testing can be done include cystic fibrosis in Whites, sickle cell disease in Blacks, thalassemia in Asians and individuals of Mediterranean descent, and Tay Sachs disease, Canavan disease and familial dysautonomia in Ashkenazi Jews. In autosomal recessive disorders, a person must have two copies of the mutation to be affected. Individuals who carry one copy of the alteration are carriers and typically show no signs of the disease. When both parents are carriers, there is a one in four, or 25 percent, risk for each child to inherit the mutation from both parents
and be affected.
Preimplantation genetic diagnosis (PGD) is reproductive genetic testing that is done on embryos produced through in vitro fertilization. Most commonly, one or two cells are removed from the embryo and tested for the presence of a particular trait or condition. The test results are used to inform the selection of embryos for transfer to a woman’s uterus. For example, parents may want to select only embryos that do not have a particular genetic mutation or that have a particular genetic characteristic, such as sex. Preimplantation genetic diagnosis has been used for patients carrying chromosomal rearrangements and those at risk of transmitting a single gene disorder to their off spring. Reproductive genetic testing has also been used to detect chromosomal abnormalities in embryos from women of advanced maternal age undergoing fertility treatment.
Prenatal genetic testing (or prenatal genetic diagnosis) is reproductive genetic testing of fetal cells obtained through procedures such as amniocentesis and chorionic villus sampling (CVS). Test results may be used to help parents prepare for the birth of an aff ected child or make a decision about terminating the pregnancy.
Prenatal screening is reproductive genetic testing which involves those tests and procedures used to assess fetal risk for an abnormality, including genetic disorders. This type of reproductive genetic testing does not provide a definitive diagnosis of a genetic abnormality.
In Vitro Fertilization (IVF) is a reproductive genetic testing process in which eggs are retrieved from a woman’s ovaries and fertilized with sperm in the laboratory, and the resulting embryos are grown in culture and then transferred into a woman’s uterus. Embryos that are not transferred may be discarded, frozen and stored for future use, donated to other couples or used for research.
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