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Genetic Counseling

Genetic Counseling. Christine Martin 10-15-13 7/8 B. Types of Tests.

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Genetic Counseling

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  1. Genetic Counseling Christine Martin 10-15-13 7/8 B

  2. Types of Tests • Alpha-fetoprotein screening (AFP) - a blood test that measures the level of alpha-fetoprotein in the mothers' blood during pregnancy. AFP is a protein normally produced by the fetal liver and is present in the fluid surrounding the fetus (amniotic fluid), and crosses the placenta into the mother's blood. • Abnormal levels of AFP may signal the following:  • open neural tube defects (ONTD) such as spina bifida • Down syndrome • other chromosomal abnormalities • defects in the abdominal wall of the fetus • twins - more than one fetus is making the protein • a miscalculated due date, as the levels vary throughout pregnancy

  3. Types of Tests (continued) • Amniocentesis • A procedure used to obtain a small sample of the amniotic fluid that surrounds the fetus to diagnose chromosomal disorders and open neural tube defects (ONTDs) such as spina bifida. There is a small risk of miscarriage associated with amniocentesis which must be balanced with the risk of an abnormality . An amniocentesis is generally offered to women between the 15th and 20th weeks of pregnancy who are at increased risk for chromosome abnormalities, such as women who are over age 35 years of age at delivery. • Chorionic villus sampling (CVS) • Chorionic villus sampling (CVS) is a prenatal test that involves taking a sample of some of the placental tissue. This tissue contains the same genetic material as the fetus and can be tested for chromosomal abnormalities and some other genetic problems. In comparison to amniocentesis, CVS does not provide information on neural tube defects such as spina bifida.

  4. Types of Tests (continued) • Pregnancy-associated plasma protein screening (PAPP-A) and Human Chorionic Gonadotropin (hCG) • Proteins produced by the placenta in early pregnancy. Abnormal levels are associated with an increased risk for chromosome abnormality.

  5. Moral or Ethical Issues • Discrimination by insurance companies • Decreased individual rights to privacy • Whether relatives of someone with a positive predictive genetic test should be notified of the results • Is it better to have a child grow up knowing they will die, or just find out later in life?

  6. Possible Questions • Does my risk for genetic problems increase because I’m in my forties? • Yes, but with monitoring you can still have a healthy pregnancy • Can you tell us about possible hereditary disorders that our child might have? • Yes, by looking at the parent’s genetics • Can we still learn about our child’s DNA without telling us too much? • Yes, you can tell us exactly what you want to know

  7. Recommendation • You should have the genetic testing done because you’re in you forties so there’s a higher chance of problems. You can be very specific with what information you receive so you don’t have to know “too much,” you can just know the risks.

  8. Citations • http://www.nlm.nih.gov/medlineplus/genetictesting.html • http://www.mayoclinic.com/health/genetic-testing/MY00370

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