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Requires a maternal blood draw. Based on DNA of fetal origin circulating in the maternal blood. Testing can potentially identify fetal aneuploidy [54] (available in the United States, beginning 2011) and gender of a fetus as early as six weeks into a pregnancy. Fetal DNA ranges from about 2–10% of the total DNA in maternal blood.
An example of an algorithm for determining the indication for prenatal genetic testing for trisomy 21 (Down syndrome), wherein the genetic blood test (in center) is performed by detecting cffDNA in a blood sample from the mother. [60] Trisomy 21. Fetal trisomy of chromosome 21 is the cause of Down's syndrome.
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 ]
[10] Fetal lung development can be tested by sampling the amount of surfactant in the amniotic fluid obtained via amniocentesis. [9] Several tests are available, including the lecithin-sphingomyelin ratio ("L/S ratio"), the presence of phosphatidylglycerol (PG), and the surfactant/albumin (S/A) ratio. [9]
Once the DNA was isolated it was used for preimplantation genetic testing. The results showed that when both methods (blastocyst fluid and embryo spent media) were used in combination, they showed a cordance rate for the whole chromosome copy of 87.5% when compared to the trophectoderm, 96.4% when compared to the whole blastocyst (gold standard).
There is a slight risk of miscarriage with this test, about 1:400. Another method of prenatal testing is chorionic villus sampling (CVS). Chorionic villi are projections from the placenta that carry the same genetic makeup as the baby. During this method of prenatal testing, a sample of chorionic villi is removed from the placenta to be tested.
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