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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 ]
First trimester [68] Less invasive Maternal serum screening Including β-hCG, PAPP-A, alpha fetoprotein, inhibin-A. First or second trimester More invasive Chorionic villus sampling: Involves getting a sample of the chorionic villus and testing it. This can be done earlier than amniocentesis, but may have a higher risk of miscarriage, estimated ...
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 ...
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 ...
Spina bifida can usually be detected during the second trimester of pregnancy by fetal ultrasound. [59] Increased levels of maternal serum alpha-fetoprotein (MSAFP) should be followed up by two tests – an ultrasound of the fetal spine and amniocentesis of the mother's amniotic fluid (to test for alpha-fetoprotein and acetylcholinesterase).
In adults a normal amount of AFP is 0-40nng/mL and high levels of this can indicate diseases, cancer, and fetal defects. In pregnant people AFP levels rise at 14 weeks until 32 weeks, and range between 10 and 150 ng/mL in the middle of gestation. This is why AFP can be used alongside other tests as a tumor marker protein in adults. [12]
As an example, Alpha-fetoprotein (AFP) testing is used to screen for a neural tube defect (NTD) during the second trimester of pregnancy. If the median AFP result at 16 weeks of gestation is 30 ng/mL and a pregnant woman's AFP result at that same gestational age is 60 ng/mL, then her MoM is equal to 60/30 = 2.0.
Studies from 2000 to 2006 estimated the procedure-related pregnancy loss at 0.6-0.86%. [34] [35] The most recent systematic review of the literature and updated meta-analysis on the risk of pregnancy loss following amniocentesis was published in 2019. This study cites the amniocentesis-related pregnancy loss to be 0.30% (95% CI, 0.11–0.49%). [36]