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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. [2] These may be anatomic and physiologic problems with the health of the zygote , embryo , or fetus , either before gestation even starts (as in preimplantation ...
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 ]
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 .
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Transabdominal chorionic villus sampling is an alternative to amniocentesis if genetic diagnostic testing is to be performed in the first trimester between ten and 15 weeks' gestation. [3] It is important to note that prenatal genetic testing cannot identify all possible fetal genetic abnormalities or their outcomes. [5]
Disease testing: A complement to specific gene testing for monogenic disorders, which can be very useful for genetic diseases with sex linkage, such as, for example, X-linked diseases. In such cases, it may be much easier to exclude the possibility of disease in the child by prenatal sex discernment than to test for any specific sign of the ...
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