Noninvasive Prenatal Testing Essay

Did you know that close to 6,000 babies are born with Down syndrome every year in the United States? The most common type of chromosomal condition is Down syndrome and there are a few different types of this condition, along with, several different traits that are displayed with this condition. I have always been interested in the topic of Down syndrome and thought it was a great idea to study more about it for my speech. First, I will tell you about what Down syndrome is and who discovered it. Second, I will talk to you about some symptoms and characteristics of this chromosome disorder. Third, I will discuss the 3 different types of this condition, and lastly, how they diagnose Down syndrome prenatally.

As a child, Down syndrome was a part of my everyday life. I was watched after every day for the first ten years of my life by a women who was also looking after her sister who had Down syndrome. To me it was nothing unusual. It wasn’t until about eighth grade that I realized that to other people it wasn’t normal, it had a negative connotation. Growing up around a person who has Down syndrome made me see things differently than others. Once I realized not everyone else’s perspectives were the same as mine I became really aware of how others treated and reacted to people with Down syndrome. Its years later and I came across a story told by a women named Bethany Van Delft about Down syndrome.

They believe that pregnant women should be offer screening for Down syndrome no matter their age. Before women who were over the age of 35 were suggested to get a Down syndrome screening done. However, now they are suggesting that any woman who is currently pregnant should be offered the chance to have a screening done. The goal of this test is to provide women with the best high quality detection rates with just a few false positive results. As the director of this organization and having a child of my own that has Down syndrome this topic could be difficult to approach in the aspect of seeing the reason why people would want to know whether their child has down syndrome or not. The two main reasons for wanting to know if a child has Down syndrome in the early stage of pregnancy is to consider terminating the pregnancy or so that they have time to make living arrangement to accommodate to child’s special needs. In this case I do agree that women should be offer the opportunity to know if their child might have Down syndrome to prepare themselves physically and emotionally. This would allow them to have time to prepare a good life for this child and accommodate to their special needs. However, women should not use this screening as an opportunity to terminate pregnancies just because the child has Down syndrome. I know that

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.”

Down syndrome occurs in people who were born with three, rather than two, copies of the 21st chromosome. This extra genetic material is what brings about the effects of Down’s syndrome. It is often characterized by an impairment of cognitive (process of thought) ability. Most people with Down syndrome have lower than average, mild to moderate, cognitive ability and this cannot be predicted at birth. A smaller number fall into the severe impairment range. Physically, people with Down’s syndrome are smaller in stature, have less muscle tone, and have noticeably different facial features. The number of these births occurs approximately in one out of every one thousand (ndss.org). As of 2007, the number of people in the United States with Down syndrome stood at about 350,000. These numbers will shrink because now (most) potential parents can know the condition of the fetus early. This information is included to let the reader relate to the struggles that some with Down syndrome goes through.

Procedures such as amniocentesis and chorionic villus sampling (CVS) represent the standard diagnostic methods used by clinicians to screen fetuses for abnormalities or genetic disease such as Down syndrome. In amniocentesis, a needle is inserted into the amniotic sac of the mother and a small sample of amniotic fluid is obtained. Fetal tissue is contained within the amniotic fluid and is subsequently analyzed genetically and cytogenetically for abnormalities. In the case of CVS, a sample of placental tissue is obtained through the mother’s cervix for downstream genetic analysis as in the case of amniocentesis (CDC,

However, it doesn’t mean that people are not going to have disabled babies even though they have gone through testing prior to birth. In many cases, advanced techniques fail to tell if the baby will have psychological problems which can only be discovered after birth. Moreover, this doesn’t mean that parents or future parents cannot have kids for fear of having a disabled child. For example, in the article called “Deaf Culture and Cochlear Implants” by Boinne Poitra’s Tucker says that culturists of deaf society advocate that is mandatory to have a genetic test to see if the child is going to be born deaf as they believe is the best for him. However, if a potential parent is deaf or there is genetic factor that put in the predicament of having a disable child, they can have the test done before conceiving to know how the child is going to be or to choose other ways of making a family. Another approach for parents about having a child with Down syndrome is to abort that fetus. For example, there are tests to detect if a child has Down syndrome early in the pregnancy. Now, it is my argument that why bring to this world a human being that will suffer in many areas including socially, cognitively, and biologically. Moreover, in the reading “The Infant Does Case” there was a case in which a woman has a Down syndrome baby with major

Thousands of babies are born a day in the United States. One out every 691 babies born has Down syndrome, a disorder caused by an extra copy of the chromosome twenty one. In short, this syndrome shortens the person’s life span, and causes assorted severity of mental retardation. Those carrying this extra chromosome have flattened noses, rounder faces, are petite in size, and are much more prone to additional unhealthy disturbances or effects on substantial systems in the body.

Discovering you are pregnant with a child is supposed to be one of the best days of your life, but finding out your baby has the one extra 21st chromosome could change everything. Author and national correspondent for the New York Times, Amy Harmon, fights for children and families affected by the disease in her article, “Prenatal Test Puts Down Syndrome in Hard Focus.” Harmon recognizes in her article that raising a child with this disease is not easy. She provides evidence of this by including quotes and personal stories from parents and family members whose loved ones are affected by it. She illustrates a genuine passion for the growing number of parents that are “Convinced that more couples would chose to continue the pregnancies if they better appreciated what it meant to raise a child with Down syndrome”(Harmon). To better put it in perspective, an estimated 90% of women chose to have an abortion if they are given a positive diagnosis for Down syndrome.

Mrs. Gomez Nieto created the organization to help families like her own learn more about Down syndrome and advocate for their children (Gomez-Nieto). Since its founding

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

The research design was appropriate and the results were reproducible between different studies. The validity indicated that direct comparison between each test was difficult because they had different cut-points to define pregnancies as high or low risk for Down’s syndrome. If all of the studies had the same cut-point, it would have made a direct comparison easier (Alldred, et al., 2013). There were different laboratories used to run different assays on different machines and methods. This may influence raw results and subsequent risk calculations (Alldred, et al., 2013). Very few papers made direct comparisons between tests, this was difficult to detect real differences that may exist between tests (Alldred, et al., 2013). This publication is current as of December 17, 2013.The article was able to answer my PICO question and met the stated requirements. The source included specific details about the sensitivity and specificity of the lab test. The author, S. Kate Alldred, she is affiliated with the Department of Women’s and Children’s Health at the University of Liverpool School of Medicine, in Liverpool, UK. She has authored other publications including “Frist and second trimester serum tests with and without first trimester ultrasound tests for Down’s syndrome screening”, “Second trimester serum tests of Down’s Syndrome screening”, and “Urine tests for

When such a condition is detected, or highly suspected, what then? According to Farrell et al., (2014) physicians are most concerned with the ethical issue of pregnancy termination. In the case of Down Syndrome, this is with good cause. A systemic review by Natoli, Ackerman, McDermott and Edwards (2012) found a weighted mean termination rate following a prenatal diagnosis of Down syndrome was 67%, with a range of 61% - 93%. The evidence they presented suggested that termination rates varied according to maternal age, race, and gestational age. (These variances alone open another ethical can of worms). But one can see, after only brief examination of this one genetic screen, why physicians, and society in general, should be concerned. There is no concensus regarding whether or not pregnancy termination is ethical in and of itself, let alone when one decides to terminate due to knowledge of specific genetic markers or

Those with Down syndrome often experience physical issues such as poor muscle tone and poor immune function (Carmeli, Kessel, Merrick, & Bar-Chad, 2014). Individuals who are born with Down syndrome often need extensive help making adult decisions throughout their lives, but the severity of cases varies heavily within individuals that have Down syndrome. Down syndrome has some clear physical features, but it also has a number of features that affect the individual; for instance, individuals with Down syndrome are more likely to experience problems with congenital heart disease (Glasson, Dye, & Bittles,

The next technique routinely performed for prenatal diagnosis is amniocentesis. A long needle is inserted into the mother’s uterus to withdraw a sample of amniotic fluid containing cells shed by the fetus. The cells are cultured and analyzed for chromosome abnormalities. Despite the lengthy time in obtaining results because the cells need to be cultured, this method has become widely accepted as a safe and accurate way to determine genetic disorders.