Prenatal Genetic Testing Essay

1260 words - 6 pages

The human body contains approximately one hundred thousand genes whose malformations cause over four thousand known genetic disorders (“Genetic Engineering”). Genetic disorders or mutations that are not inherited can occur due to environmental factors that include radiation, toxins, or drugs. Genetic material is contained in chromosomes, therefore genetic disorders “are caused by defects in the number of chromosomes, in their structure, or in the genes on the chromosome” (Kalumuck). Prenatal genetic testing uses diagnostic and screening tools such as ultrasonography, amniocentesis, alpha fetoprotein assays, and chorionic villus sampling to detect genetic abnormalities before the birth of ...view middle of the document...

Chorionic villus sampling, also known as CVS, is a diagnostic test that finds an actual genetic malformation and confirms or refutes an abnormality discovered by a genetic screening test. This diagnostic test first became available to expectant mothers in the early 1980s (Norwitz and Levy). Chorionic villus sampling can be done at ten to twelve weeks into gestation. “A needle through the abdomen or cervix harvests cells from the placenta,” and these cells are then viewed through a microscope by a physician who will make a diagnosis based on the appearance of the fetal DNA (Begley).
Like chorionic villus sampling, amniocentesis is a diagnostic test to confirm or refute the presence of a genetic abnormality. Amniocentesis was first available to expectant mothers in the early 1970s, and can be completed at fifteen to eighteen weeks into gestation (Norwitz and Levy, Begley). In amniocentesis, a doctor uses a 3-inch needle to remove a sample of amniotic fluid that surrounds the fetus and views the fetal DNA cells from amniotic fluid under a microscope to determine if an abnormality is present (Begley). Amniocentesis has a slight risk of inducing a miscarriage, but that risk is approximately less than one percent (Weaver).
Recent advancements in technology allow cells harvested by chorionic villus sampling and amniocentesis to be tested by a chromosomal microarray. “Microarrays use computer chips to detect sections of DNA that are either depleted or repeated in unusual ways” (Szabo). Chromosomal microarrays are five times more sensitive than testing in which cells are viewed under a microscope by a physician, likely leading to more accurate results (Szabo, Marchione). Genetic material harvested by amniocentesis and chorionic villus sampling could only be tested for an individual chromosomal abnormality or genetic mutation when the tests were first available. Today the two diagnostic tests have the capacity to find multiple different gene mutations or fetal characteristics at the same time, which is very helpful because some genetic disorders are caused by multiple gene mutations working together (Farrell).
There are also many options for noninvasive prenatal genetic screening tests. Noninvasive tests are commonly used to diagnose aneuploidy, the abnormalities caused by extra or missing chromosomes. There are two types of noninvasive screening tests that use a sample of the gestational mother’s blood. One type of uses maternal serum and the other uses cell-free fetal DNA. The triple screen, quadruple screen, as well as first trimester aneuploidy screening are examples of noninvasive maternal serum alpha-fetoprotein screenings. CfDNA screening detects abnormalities through cell-free fetal DNA (Farrell).

Sources Consulted
Barlow-Stewart, Kristine, Michael Buckley, Leslie Burnett, Bronwyn Butler, Gayathri
Parasivam, Mona Saleh, and Ron Trent. Australia. Centre for Genetics Education.
DNA GENETIC TESTING—screening for genetic...

Find Another Essay On Prenatal Genetic Testing

The Pros and Cons of Prenatal Screening

1335 words - 5 pages and genetic test and aim to determine if the pregnancy is at a higher risk for a particular birth defect. The earliest prenatal test is the blood testing. It is used to determine the blood type and Rh factor of a mother and the fetus. This is to prevent the complication caused by antigen-antibody reaction of Rh group of the mother and the fetus which may lead to haemolytic anemia. Besides that, blood test is also able to detect some of the blood

prenatal dna sequencing Essay

2417 words - 10 pages “Today some patients have their genomes sequenced to shed light on genetic diseases or illnesses like cancer, but one day people will not wait until they are sick, for they will already know the data at birth, says Arthur Beaudet. In this day in time scientist are testing out procedures in which parents will be able to alter their child’s genes. This means parents will have the will to create their child in a way they see fit. Although, this is

What is Eugenics?

2285 words - 9 pages invasive procedure that is performed by inserting a needle or tube through the cervix to retrieve fetal cells from the placenta for genetic testing (3). The procedure usually costs around $1,500. It can be uncomfortable for the woman, and carries a 1% chance of miscarriage. Most women, however, decide to take the third course of action, which is prenatal genetic screening. This offers the mother a probability that the child will have a certain

Genetic Counseling

628 words - 3 pages Genetic CounselingIt really is incredible how many prenatal tests women can take to predict the health of their child. Couples can even foresee the possibility of passing on a genetic disorder to their child through genetic counseling. Genetic counseling can aid in reducing risks to newborn children and help families develop a plan if their child does have the risk of receiving a disease.Genetic counseling consists of blood or tissue tests from

Genetic Screening what are its uses, advantages, disadvantages and ethical issues

927 words - 4 pages testing"*Olson Jeff, etc"Genetic Screening"*Sagredo Boris" the social impact of genetic screening knowledge"*Harmon Amy"Prenatal test puts down syndrome in hard focus"The New York Times9th May 2007 pg1Freeman ScottBiological Science: Cell/GeneticsPrentice Hall2002Gonick, Larry and Wheelis, MarkThe Cartoon Guide to GeneticsHarper PerennialNew York, 2001Ridley MattGenome: The Autobiography of a Species in 23 Chapters (P.S.) (Paperback)Harper Perennial2006

Prenatal Genetic Tests: The Future of Procreation

2392 words - 10 pages engineering are viable options for the future of preventing genetic diseases in embryos because they are safe, ethical, and beneficial to advancing society. There are three different types of preimplantation genetic testing, including prenatal testing, predictive testing and preimplantation genetic diagnosis. Prenatal testing is defined as testing a baby’s genes for any mutations that may result in a genetic disease while it is in the embryonic

Genetic Testing

2353 words - 9 pages a family and are concerned about the possibility of passing on a genetic trait to their offspring. This last type of screening can look at the parent's genotype or look at the genotype of the fetus or newborn. This type of screening can also look for a specific disorder or can be done as a general test for common disorders as in prenatal testing or more commonly newborn screening. Genetic tests use techniques to examine genes or markers near the

Genetic Testing and Newborn Screening

1104 words - 4 pages or family history of medical diseases. The carrier testing gives parents their percent risk of a having a child with a medical genetic disorder. Prenatal testing gives insight on the fetus’s genes or chromosomes, so that the parents can make a choice weather or not to give birth to a child or any children at all. This test is used to help parents see the defects of their child before birth, there have been many couples that decided not to have

Different Categories of Genetic Testing

1196 words - 5 pages the cells are then extracted from the embryo and tested for any deformities or abnormalities in its genetic makeup. This type of testing is usually done after it is determined that the parents are carriers for a genetic disease. Only normal genes are implanted into the mother. Other common techniques for genetic testing include newborn screening, diagnostic testing, predictive testing, presymptomatic testing, and prenatal testing. The issue

The Benefits of Genetic Testing

1593 words - 6 pages . Before birth, prenatal testing is used to detect mutations in a fetus. This test is done when during pregnancy there is an increased risk that the baby will have a genetic or chromosomal disorder. Going back to the very beginning of a pregnancy a tests can be done, called preimplantation testing. This test is also called preimplantation genetic diagnosis (PGD), and is a specialized technique that can reduce the risk of having a child with a

Biotechnology and Genetic Testing

1701 words - 7 pages Genetic testing is becoming more and more common as advancements in biotechnology are being made. The term “genetic testing” refers to the use of a test that looks for changes in a person’s genes or structure of certain proteins (National Human Genome Research Institute [NHGRI], 2014). Genes are decoded and each letter of the DNA sequence can be determined. There are many uses for this type of testing, including, but not limited to, diagnosis of

Similar Essays

Genetic Choices Prenatal Genetic Testing Essay

1726 words - 7 pages Genetic Choices: Prenatal genetic Testing Technology not a days has progressed tremendously in the last few decades. When women got pregnant, there were not as many tests done back then than there are now. Expecting mothers now can see 3D/4D images of their unborn child and get genetic tests done to see if their child will have anything wrong with them. There are tests done now to see if a child will have down syndrome or tay-sachs, which

The Chosen One: Prenatal Genetic Testing

2126 words - 9 pages comes to doing prenatal genetic testing on their new family member. But what about having prenatal genetic tests done on an unborn child who never asked to see what could potentially happen in their lives? What about the parents who want that “perfect child” and knows genetic testing and in vitro fertilization is the only way to have them? Or what about the couple who doesn’t want their child to have a deadly disease that runs in their family

Noninvasive Prenatal Genetic Testing Using Maternal Serum

2534 words - 10 pages , Norwitz and Levy). The number of noninvasive prenatal genetic tests available continues to grow as science advances. Commercial noninvasive prenatal testing is done in the United States by multiple companies, including the Sequenom Center for Molecular Medicine and Verinata Health, which both use targeted sequencing of cfDNA to look at areas of interest, such as chromosomes “13, 18, 21, X and Y” (Norwitz and Levy). Some other brands of

The Negative Effects Of Prenatal Testing

2526 words - 10 pages Prenatal tests show the possibility of a child having a genetic disorder, such as Down Syndrome which leads many parents to choose abortion. When it comes to prenatal testing there are many different testing options. Screening tests for example, which are the first tests that are done on the fetus. During the first ten to thirteen weeks of a pregnancy, a woman can get a first trimester screening done. This is an ultrasound and