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Alpha-fetoprotein (AFP, α-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or alpha fetal protein) is a protein [5] [6] that in humans is encoded by the AFP gene. [ 7 ] [ 8 ] The AFP gene is located on the q arm of chromosome 4 (4q13.3). [ 9 ]
Elevated alpha-fetoprotein refers to a state where alpha-fetoprotein levels are outside of the reference range. There are two categories of AFP tests: tests performed on serum (blood plasma), and tests performed on amniotic fluid. Tests performed on serum are further categorized by the reason for performing the test: maternal serum, adult tumor ...
It is a tetramer protein with 2 alpha and 2 gamma subunits. This is different from adult hemoglobin because it has 2 alpha and 2 beta subunits. Fetal hemoglobin is coded by a gene on chromosome 11. The gamma subunit on fetal hemoglobin contains a neutral and nonpolar amino acid at position 136, unlike the beta subunit of adult hemoglobin.
Some abnormalities detected by ultrasound can be addressed by medical treatment in utero or by perinatal care, though indications of other abnormalities can lead to a decision regarding abortion. Perhaps the most common such test uses a measurement of the nuchal translucency thickness ("NT-test", or " Nuchal Scan ").
Amniocentesis is an invasive diagnostic test that can be done during the second trimester of pregnancy for individuals that are looking to identify or are at higher risk of passing chromosomal and/or neural tube abnormalities. The procedure is typically done via needle, in combination with ultrasound for guidance, to obtain a sample of the ...
The procedure-related risk of fetomaternal hemorrhage attributable to amniocentesis is 2.6%. [1] Amniotic fluid cell culture after amniocentesis has a failure rate of 0.1%. [2] Later gestational ages at the time of the procedure and amniotic fluid samples contaminated with blood increase the risk of amniocyte culture failure. [2]
The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...
The hCG test can be used to screen for uterus cancer, or a molar pregnancy, which is when there is abnormal placental growth in the uterus. [9] The hCG test can also be done after a miscarriage to ensure that a molar pregnancy is not present. In men, the hCG test can be used to screen for the presence of testicular cancer. [9]