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A blood test done near the end of the first trimester of pregnancy to screen for common chromosomal defects. This test screens for blood levels of both free beta-human chorionic gonadotrophin (beta-hCG) and pregnancy-associated plasma protein A (PAPP-A) and can detect trisomies of chromosomes 21 (Down's syndrome), chromosome 18 (Edward's syndrome), and chromosome 13 (Patau's syndrome).
Pruebas
A karyotype test is a type of genetic testing . It looks at the size, shape, and number of chromosomes in a sample of cells from your body. Chromosomes are tiny "packages" in your cells that contain your genes . Genes carry information, called DNA , that controls what you look like and how your body works.
Pruebas
Prenatal cell-free DNA (cfDNA) screening is a blood test given during pregnancy . During pregnancy, some of the fetus's DNA circulates in the mother's bloodstream. A cfDNA screening checks this DNA to find out if the baby is more likely to have certain conditions caused by an abnormal number of chromosomes , such as Down syndrome .
Pruebas
A BCR-ABL1 genetic test uses a sample of blood or bone marrow to look for an abnormal gene called BCR-ABL1. This abnormal gene is found in certain types of blood cancer , such as chronic myeloid leukemia (CML).
Pruebas
A PTEN genetic test uses a sample of your blood or other body tissue to look for changes in a gene called PTEN . Changes in your genes are also called gene variants or mutations.
