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The ACOG recommends genetic screening before pregnancy to all pregnant women planning to have a family. [61] After comprehensive counseling and discussion that acknowledges residual risks, it is important to respect the patients' right of choosing whether or not to pursue any component of genetic testing. [citation needed]
Preimplantation genetic testing tests IVF embryos before pregnancy and Preimplantation genetic screening screens non-IVF embryos for aneuploidy. Aneuploidy is a chromosome mutation in which the number of chromosomes is abnormal and differs from the usual 46 chromosomes. [4]
A meta-analysis published in 2011 found that such tests are reliable more than 98% of the time, as long as they are taken after the seventh week of pregnancy. [1] [2] Chorionic villus sampling (CVS) and amniocentesis are two rather invasive testing procedures. These may, in principle, be performed as early as the 8th and the 9th week of pregnancy.
That can mean testing the morning that your period is due or, if you want to make sure you don't use a test right before you get your period, you can give it a whole day to make sure you did, in ...
Cell-free fetal DNA (cffDNA) testing – a non-invasive (for the fetus) test. It is performed on a sample of venous blood from the mother, and can provide information about the fetus early in pregnancy. [12] As of 2015 it is the most sensitive and specific screening test for Down syndrome. [13]
It can also be used to determine the sex and paternity of a child while still in utero. The most common genetic condition tested for is Trisomy 21. The test can also detect disorders that affect the sex-linked chromosomes such as Turner's Syndrome, Triple X Syndrome, and Klinefelter Syndrome.
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