Pros And Cons Of Prenatal Testing

Many people have a negative outlook on prenatal genetic testing but that is because they are not educated on the goals

Here is a real life story of a woman who has been greatly affected by genetic testing and has seen both the good and the bad of genetic testing. This is a story that was posted in an article called “6 Moms Share Their Real Prenatal Testing Stories” on the website “What to Expect” from Courtney from Lake Stevens, Washington about how genetic testing has affected her life. So for Courtney, a few weeks after her 13 week ultrasound and her quad screen her doctors told her she had a positive screen for Down syndrome. So at 17 weeks she had to go back in for another ultrasound and genetic counseling which according to kids health.org is counseling that allows a genetic counselor to evaluate the results of a genetic test with the parents and helps the parents understand and reach decisions on what to do next. Her ultrasound looked great but still had a positive screen for Down syndrome. So she was was recommended for either an amnio or verifi test. Courtney then went to genetic counseling and choose to have the verifi test done over the amnio. A week later her results came back negative for Down syndrome and confirmed the baby was a girl. Courtney said “I am glad we opted to get the verifi test done especially after the stress of getting a positive screening before. I like how that if the NIPT did turn out positive for Down syndrome, I could have prepared ahead of time for the care of a special needs child would require, rather than feeling completely caught off-guard at birth.”

In Improvements in Prenatal Genetic Testing Raise Ethnic Issues, R. J. Crayton produced an article about prenatal testing and whether or not parents should be allowed to have these tests done. First the situation of a high risk baby who will have a disability or defect after birth, so the parents decide to abort the child is being viewed as an inequality to the disabled community. Secondly, certain adoptions are put on hold since the biological parents chose to not carry the unborn child through the entire pregnancy, however, the surrogate mother wants to carry the child through the entire term. Lastly, research shows that the results can be a false positive, so unintentionally the parents decide not to keep the unknown, but healthy baby.

Prenatal genetic testing is not intrinsically different from other medical exams or tests. The results are varied degrees of accuracy which limit the prognosis, but make it possible for parents to prepare for the birth of a potentially disabled child or to avoid the possible defects and abort the fetus (Denier, 2010). This prenatal genetic diagnosis (PGD) is routine in the United States although the patient must consent or use autonomy to refuse testing.

The first way that prenatal testing can be done is through something called a prenatal diagnostic test. "In general, it is the diagnostic procedures, such as amniocentesis and chorionic villus sampling, that people think of when they hear the term prenatal testing," (Press 1). Amniocentesis is when doctors take a sample of the fluid that surrounds the baby in the uterus to determine certain genetic disorders or chromosomal abnormalities. Chorionic villus sampling is when doctors take cells from projections on the placenta to also discover any genetic disorders or chromosomal abnormalities. These processes are considered "invasive" because they are putting objects that could potentially hurt the baby into the protective area surrounding the baby. These ways of prenatal testing come with a very negative feeling because they could possibly injure the baby, and the word invasive is attached to a very negative connotation. However, these options can find more abnormalities and diseases than non-invasive prenatal testing. "NIPT accurately diagnoses Down's syndrome, Edward's syndrome, Patau syndrome, Turner's syndrome, and numerical chromosome aberration and cannot detect other chromosomal anomalies," (Ryu & Kim 1). Even though this is true, NIPT is still a very beneficial option to the mother and unborn child. NIPT usually uses a DNA sample to determine chromosomal abnormalities that could lead to things such as Down's syndrome. The procedure is done by the doctors taking a sample of the mother's blood to determine what types of diseases and disabilities the baby will have. Many people like this type of prenatal testing because it is not detrimental to the baby, or mother's health. "Studies investigating the acceptability of NIPT suggest that pregnant women find it preferable because the standard screening is associated with more uncertain results and

Prenatal testing is used to help understand the health and state of an unborn child concerning any birth defects or any other health concerns to help families prepare for the child before it is born. Many physicians and families use prenatal testing in order to help determine whether or not a mother will want to continue with a pregnancy if there is “fetal impairment (that) is detected” (1650). This would then allow for the mother to make a selective abortion. While some information is helpful concerning the health state of the unborn child, there needs to be a distinction between acute injury and chronic disability. However, Asch reiterates that the terms “such as ‘heath,’ ‘normality,’ and ‘disability,’ are not clear” terms and that they vary

While there are several aspects which a couple needs to think about upon receiving information of the test results, one basic principle surrounds the entire decision. What will we do with our fetus? One of the most common options for

Breakthroughs in genetics have allowed parents to test their babies DNA in the womb for potential genetic diseases and disorders. The test is done by isolating the babies’ genetic material that is coursing through their mothers veins through a blood test on the mother. After the genetic material is found it is put under multiple diagnostics to determine if the baby has any of a wide variety of conditions such as Down’s syndrome, Tay-Sachs and cystic fibrosis. This Prenatal Genetic Screening can also tell many different traits on the developing baby such as its gender. Many believe that this procedure to be unethical but genetic screening can do more good than harm.

Once these tests have been performed, there is no guarantee that the results are absolutely written in stone. It is possible to terminate perfectly healthy embryos and unknowingly implant those with the dreaded disease. Also, doctors are unable to predict the true extent of the disease. An embryo diagnosed as positive may develop into a child with less severe symptoms and still be able to lead a somewhat normal and productive life.

If a mother chooses to have tests done, she has many different routes such as an amniocentesis, blood work, or chorionic villus sampling. All of these tests are done to provide more information on the growing fetus. In Marilynn Marchione’s (2014) article, “Prenatal Genetic Testing Helps Pregnant Women Detect Birth Defects”, she interviews Dr. Ronald Wapner, a productive genetics chief at Columbia University Medical Center in New York. Dr. Wapner explains that with the use of prenatal genetic testing, doctors are able to give countless amounts of expecting mothers information about what can cause disabilities such as down syndrome, or severe autism. Doctors can also explain what the prognosis is, and what special care a child may need. He also goes into detail about how many mothers who are 35 years and older are at high risk of having a child with a disability. Wapner believes it is needed to have the tests done for their safety and safety of the fetus. Having tests done will better prepare doctors and expecting mothers to what is happening in the womb. Yes, many expecting mothers are offered screenings with an ultrasound, or a blood test that can detect some common abnormal cell counts, such as down syndrome, but these can not be relied upon alone. Visual chromosome exams for example, will show doctors and parents a majority of potential diseases a child may have. Some prefer it, and some do not. It does not give a definite answer, but it will help parents and doctors look out for symptoms and signs of the diseases. Without warning, or knowledge, a parent may not know what is wrong. With these tests, parents can learn to be more aware, and increase their knowledge of

Genetic screenings for newborns are mandated genetic tests that are performed on all babies after birth. Genetic screenings are used to determine the potential for illness, disease, or conditions that could be passed on, by one or both parents. The test performed can be found on the website http://www.wadsworth.org/newborn-screening/screened-disorders, but include a list of over forty current mandatory genetic screenings. Genetic screening is done to protect newborns from conditions, diseases, or illnesses, that otherwise appear normal and may not be visible at birth, but through the mandatory screenings, abnormalities to genetic disorders can be detected, so risks can be reduce, decision, interventions and treatments can be made, that might

Presumably clinicians miss out on these tests because they do not wish to recommend a termination to someone who has tried so hard to become pregnant and has had so much difficulty. However, when these tests are advisable but are not performed, and a child is born with a serious birth defect as a result, the parents may be able to make a medical negligence claim against the practitioner who failed to properly check the health of the baby before it was born.

Lillie SE, Tarini BA, Janz NK, Zikmund-fisher BJ. Framing optional genetic testing in the context of mandatory newborn screening tests. BMC Med Inform Decis Mak. 2015;15:50.

In recent years, fetal gene sequencing has been a controversial topic of debate for various reasons. This sequencing gives parents their unborn child’s full genetic complex during pregnancy. Meaning, parents will know in advance the physical traits, any possible disease development, or other complications. Patient care for future generations can be more accurate and efficient with the use of the scanning. There are conflicts between parents on the beliefs over this type of testing. Due to the immorality of obsessive parental influence, fetal scanning should only be used for medical illness prediction.

Jackie and Michael are expecting their first baby. Jackie is 32 years old and is in good health. She is 15 weeks pregnant and wants to do everything possible to ensure a healthy baby. Even though they do not have risk factors within their families, she and Michael decide to have an amniocentesis.