Prenatal Genetic Tests: Benefits And Risks

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.”

Prenatal testing includes screening and diagnostic testing that can provide valuable information to parents about the baby’s health. “Women are routinely offered a variety of genetic screening tests during their first three months of pregnancy to evaluate the risk for genetic disorders in their unborn baby” (livescience.com). I believe prenatal testing and counseling should not be mandatory and that each person needs to make their own decision based on their specific circumstances. Many prenatal tests are noninvasive and only require blood or urine and can test for HIV, anemia, diabetes, hepatitis B and preeclampsia. An ultrasound can also be used to detect some abnormalities with the baby. Doctors may strongly recommend that women who

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

The overall problem of prenatal screenings is the understanding of what they are and how they may be perceived by others (Deans, Clarke & Newson, 2015, p.19). Ethical issues tend to arise when people are either misinformed or not informed

The element of excitement when procreating offspring ceases with the development of Genetic Engineering. Parents will no longer wonder if their child will have grandma’s curly brown mane or Uncle Todd’s piercing gray gaze. The scientific breakthrough in technology of Pre-Implantation Genetic Diagnosis (PGD), originally created to screen diseases in embryos, has now become tantamount to an online shopping cart for determining cosmetic traits. To the parents who wish to decide what their children look like, you may be headed in the direction of becoming Adolf Hitler Lite. Using reproductive technologies to determine cosmetic features borders on scientifically useless and irresponsible, as it is basically a guise to revive eugenics.

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

Prenatal testing can help woman identify any unknown health problems that can endanger their unborn child that may or may not be treatable. There are four main processes, non-invasive and invasive, that will be evaluated being ultrasound, amniocentesis, Chorionic Villus Sample and cordocentesis. Prenatal testing is used to detect changes in the foetus’s genes or chromosomes. They distinguish chromosomal abnormalities, monogenetic diseases caused by single gene mutations and polygenetic diseases that are caused by mutations in several genes. Reasons for a karyotype analysis or invasive prenatal testing are maternal age as the probability of chromosomal abnormalities increase with maternal age, if an existing child of the couple’s has a chromosomal

“Breakthroughs in Prenatal Screenings” delivers helpful evidence in the history of how far the science of prenatal testing has come by the statistics

There’s over 13,000 people in Australia that have down syndrome in our modern day. The quality of life for people that have down syndrome can be drastically improved by meeting special health care needs. People with Down Syndrome can achieve their optimal quality of life through parental care and government support, medical guidance and community support systems like inclusive education at all levels. Genetic testing is a medical test that identifies changes in chromosomes and genes. In this article I will be telling you why genetic screening is very important if you are wanting to know if your child has down syndrome. Over this article I will also mention genetic counselling, genetic counselling is a communication process which helps families,

Genetic Engineering is manipulation of DNA to produce new organisms, either by inserting or deleting certain genes. Disease has a genetic component it is either inherited or contracted from the body’s response to viruses. Human genetic engineering goes through a process called Preimplantation Genetic Selection or PGS. Some examples of disorders or diseases that can be tested are Down Syndrome, Huntington’s disease, HIV, some forms of genetic blindness, sickle cell anemia, and Hemophilia. Many parents want to find out if they’re babies will be born with diseases, when they find out many want ways to prevent their children form getting that disease. Many follow up with different doctors to find out how to go through the process. Now there are

The ability to predict disease and one’s health status by means of genetic testing has raised ethical and legal issues and risks in medicine, public health and social policy. Ethical issues are common in all branches of medicine but “human genetics poses particular challenges and risks because genetic identity or information affect not only an individual, but also affect family members, close relatives, extended family and as well as the society in general” (Turnpenny and Ellard 2012. p. 361). There have been a lot of discussions about the availability of genetic information in terms of confidentiality, privacy, the moral acceptability of disclosure and the right not to know. For example genetic information of future people also can be obtained and stored. Question aroused that how privacy can deal with this. Everyone involved in clinical genetics will be facing complex and challenging ethical situations which can result in difficult problems that cause depression. The examples of ethical issue or risks are discrimination by insurers, employers, schools and colleagues, stigmatization, psychological distress and harm, use of unproven medical therapies or use of proven but unnecessary medical therapies, misinterpretation and misuse of the genetic test and testing errors. There are cases of people being treated unfairly because of their genotype as a result of the genetic test result has leaked to third parties such as employers and health insurers. Therefore, four legal and

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.

To check for fetal abnormalities, emotional preparation is required by the expectant parents. This is performed by the family physician and a genetic counsellor. Genetic counselling is an information session between you and your partner and a genetic counselor or group of counselors. A genetic counselor will not make a decision for you. He or she will provide information on tests you might take and what the results of those tests may indicate (2). It is of paramount importance for new parents to be aware of the choices available. Having a prenatal test is a decision for you and your family. It is helpful to discuss these choices with your family doctor or genetic counsellor and sort out any detected arising issues early. Detection of fetal abnormalities provides an assessment of the risk of carrying a fetus with