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Prenatal genetic testing can identify various chromosomal abnormalities, autosomal conditions, various birth defects, and some fetal blood disorders. Chromosomal abnormalities are when the chromosomes differ in either structure or number when compared to a typical reference genome.
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 ]
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.
The triple test, also called triple screen, the Kettering test or the Bart's test, is an investigation performed during pregnancy in the second trimester to classify a patient as either high-risk or low-risk for chromosomal abnormalities (and neural tube defects). The term "multiple-marker screening test" is sometimes used instead.
Advances in genetic testing have led to the ability to identify the biological father while the woman is still pregnant. There is a small amount of fetal DNA present in the mother's blood during pregnancy. This allows for accurate fetal DNA paternity testing during pregnancy from a blood draw with no risk of miscarriage.
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 ...
It was found that PZD led to a significantly higher rate of pregnancy (40.7% vs 15.4%), ongoing pregnancy (35.6% vs 11.5%), and implantation (18.1% vs 5.7%) than ZD. This suggests that using the mechanical method of PZD in blastomere biopsies for preimplantation genetic diagnosis may be more proficient than using the chemical method of ZD.
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.