The Importance Of Prenatal Screening

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.”

If they still choose to have prenatal testing done and received a positive result, they would need to make a choice. One of those choices could be to terminate the pregnancy. Another one is to be as prepared as possible and get ready to have a baby with medical issues. If there was going to be a problem, “parents can use the information they receive from the testing to prepare for the possibility that their child may have special needs” (healthguidance.org). Although these results can help the parents make informed decisions, there is the possibility of false positives. Parents will assume the worst case scenario and the baby could be born perfectly healthy. Another mindset of many parents, especially those who are religious, believe they are only given what they can handle and would rather not know of any issues in advance since they do not approve of abortions anyway.

Indiana’s newborn screening program, codified at Indiana Code Chapter 16-41-17, requires hospitals to take a blood sample from every infant born under their care. It is a public health measure meant to check the newborns for certain diseases or conditions. Blood is collected in five circles on a newborn screen card, otherwise known as a dried blood spot (“DBS”) sample, and then given to a lab to test. The Genomics and Newborn Screening Program of the Indiana State Department of Health (“ISDH”) perform the tests—they punch small holes out of the DBS sample, often not using all five circles. There are no explicit directions on what to do with the remaining DBS cards, but from 1991 to June 2013 retained and

Transition: So what should we say about the positives and negatives of Pre-Implantation Genetic Diagnosis?

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

Imagine you are a young woman who is just realizing that she is pregnant. You don’t want to carry a baby that you know you can’t care for, and because you come from a very religious family, you are unable to get an abortion. The topic of abortion is often split into two sides, pro-choice and pro-life. Although some people are against abortion because they believe that all life is important, people should not be pressured into not getting one because it is the mother’s own choice, getting one is already emotional for the mother, and they might not be able to care for the baby after it is born.

This paper reflects upon the reasons that prenatal diagnosis and selective abortion have become so much more popular and well-known within the recent years. It discusses reasons for the tests’ increasing popularity like: the disruption to families caused by the birth of a child with a disability, the potential quality of life of the unborn child, and the financial implications of screening and testing. Another main point that is touched upon is, the attitudes of able-bodied people towards disabilities and the desire for perfection. The author considers that maybe because of the influence of the “cultural turn”, the community of able-bodied people are experiencing an influx in the theme of ableism.

Technology have improved so much in couple of years. Different ways like prenatal screening and preimplantation have developed with it. This have caused abortions and mutations of gene leading to children born with down syndromes for example. Many people have gone to seek prenatal screening because of fear of having children who are disabled, which have lead them to increase in rates of number in fetus’s termination. Due to the issues on abortion, prenatal screening has become a very controversial problem in the society, leading to both legal and bioethical problems caused by technology advancement. This technology advancement has led to many objections being considered as critiques that are leading to prenatal screening.

However, if a disease has not been detected during the pregnancy, if something went wrong during the delivery, or if economical, social, or psychological circumstances change such that taking care of the offspring becomes an unbearable burden on someone, then people should be given the chance of not being forced to do something they cannot afford.” (Mohler)

Newborn genome screening is an issue that will becoming increasingly important in the coming decades. It has the potential to bring about many early diagnoses which could have a large impact on healthcare. This will only occur though if states can uniformly adopt a standard set of tests to be screened for. Equally important is the subject of uniformed consent. When we apply these variables to the 6 steps process we can fully compare the benefits and risks. This gives insight into taking the most appropriate actions in the future.

The moment a woman finds out that she is pregnant, her life choices not only affect herself, but it also affects the child she will bear. What the woman must come to grasp with is that a human being is going to be growing inside of her womb and she must now raise questions as to how she will mother this child once he or she is born. With the first inclination of pregnancy, women tend to display two possible reactions when first receiving their results: great joy or fear . Many women who desire a child are more inclined to show excitement when their pregnancy test shows positive. For the other

Screening was discovered in the 20th Century. Screening was used to discover medications. It was effective for many people including children. The point of screening is to identify diseases and hopefully a cure. In 1954 the United States Commission of Chronic Illness defined screening as “the possible identification of unrecognized disease or weakness by the application of tests, examination or procedures that can be applied rapidly. Screening sorts out those that have diseases to those that don’t but still have minor issues possibly dealing with depression. Although screening is not to be diagnostic and referred to a physician; it is still beneficial for those that suffer from related symptoms. 1944 A little before screening became well known.

There’s an estimated 353,000 babies born each day all around the world, every baby that’s born is impacted in the womb by its mother’s lifestyle choices. Many people are familiar with the saying “healthy mom, healthy baby.” Most women that are expecting, are warned that drinking alcohol, smoking and even eating unpasteurized cheeses can have serious consequences for the growth and development of their unborn children. The most common result of an unhealthy pregnancy is premature birth, any baby born before 37 weeks is considered premature. An estimated 15 million babies are born premature every year which is more than 1 in 10 babies. Regrettably, premature birth complications are the leading cause of death among children under the age of 5 years old. A mother’s

The periodical Introduced non-invasive prenatal testing (NIPT), this new technique allows diagnosing potential genetic defect at an early stage of fetus's development. The problems with misdiagnosis using NIPT, forces abortion, reduce or terminate research on treatment for genetic diseases arose as the result. The population diverts view on the positive and negative side of

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.