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Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. 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. [1]
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]
This leads some parents to use amniocentesis and other forms of prenatal genetic testing (like chorionic villus sampling and preimplantation genetic diagnosis) to determine the sex of the child with the intent of terminating the pregnancy if the fetus is determined to have two X chromosomes. Sex-selective abortion is particularly common in ...
The difficulty of these tests and the risk of injury to the foetus, potentially resulting in miscarriage or congenital abnormalities (especially when done early during the pregnancy), make them quite rare during the first trimester. In the United States, CVS and amniocentesis are most commonly performed after the 11th and the 15th week of ...
Cell-free fetal DNA (cffDNA) is fetal DNA that circulates freely in the maternal blood. Maternal blood is sampled by venipuncture . Analysis of cffDNA is a method of non-invasive prenatal diagnosis frequently ordered for pregnant women of advanced age .
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).
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