Prenatal Genetic Testing Essay

Child is a gift from God. Every parent hopes for a healthy child. However, abnormalities in the fetus growth becoming common nowadays. These may be due to physical, radiation and chemical factors. These factors will cause deformities such as genetic mutation which causes mental retardation, abnormal body buildup and other conditions which bring a lot of troubles in the future to the child themselves and their parents. Modern technologies and innovations in the medical field had developed a method to detect the abnormality before delivery and prevent this future tragedy to happen. This method is known as prenatal screening. There are several advantages and disadvantages of prenatal screening.

Many medical advances are being made today in the area of genetics. One of the most talked about is prenatal genetic testing. The purpose of prenatal genetic testing is to obtain information on a baby's health before they are born. This new technology will definitely improve the quality of human life. Diseases will be diminished and through new advances some diseases might even be eliminated. Children will be at less risk to have major health problems in their lives adding positively to their life experience. Prenatal genetic testing will also affects society as a whole.

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

Genetic testing has brought about many changes in the way many couples look at conceiving and raising families. Through genetic testing you are able to screen for the increased chance that a fetus may have one of many congenital disorders, or even identify gene changes that are responsible for a disease that has already been diagnosed (Genetic Testing, March 2015). Unfortunately genetic testing is not always exact, in some cases giving parents false negatives or false positive results. Even if the results are accurate, there is the burden of knowledge once you know the results indicate a genetic abnormality such as Down’s syndrome. While caring for a 2 year old male patient with developmental delays and anotia, I learned that genetic testing had been started but never completed on the child. Genetic testing could help to identify genetic disorders that led to the child’s developmental delays and possible future disorders that may develop. The ethical dilemma I will be discussing to the ANA Ethical dilemma of the impact of informed consent of genetic testing on children for adult onset diseases and disorders.

Shadowing Dr Anderson allowed me to encounter the day to day problems faced by a physician. I've learned about genetic disorders and their symptoms, but I got to see how diagnosis is rarely that clear cut. Most of the patients presented with developmental delay, a symptom common to many genetic disorder. Variable expressivity and penetrance further complicates differential diagnosis. Genetic testing is required for confirmation, yet almost never covered by insurance. Out of pocket costs can be too expensive for many families to afford. Without a confirmed diagnosis, it's difficult for families to get the needed support from insurance and the government. Dr Anderson tried to avoid going through insurance by enrolling her patients in clinical

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.

Modern medicine now relies more and more on genetic science, so the demand for health care professionals who can assess and communicate these health issues is significantly increasing. This is because public awareness is growing in conjunction with scientific advances in reproductive technologies. Health care consumers now want genetics specialists who can provide highly accurate and advanced consultations regarding their unique genetic conditions. Most genetic counselors work with couples or single mothers who

The purpose of the document is to explain the benefits of prenatal genetic counselling, procedures and tests used to find genetic abnormalities, and what to do with the information received through genetic counseling.

All women should be offered genetic testing during child-bearing years. It may be done before pregnancy or during pregnancy.

Between the 15th and 18th weeks of pregnancy, a woman can have an amniocentesis to test for the Tay-Sachs gene. In this test, a needle is inserted into the mother's belly to draw a sample of the amniotic fluid that surrounds the fetus.

I primarily chose this topic because initially had no idea about genetic counselling, in fact, I did not even know that there was such a thing. The field of genetic counselling is quickly expanding especially in this new found era of genomic medicine. Genetic counselling is very pivotal in clinical health care, education as well as for providing emotional support for individuals and families that are facing the uphill tasks of dealing with genetic and inherited diseases. Genetic counsellors help by providing services to patients as well as to the families of patients who are at risks of inherited diseases. They assist in genetic testing, counselling diagnosing as well as giving information on how to prevent and manage diseases. Furthermore, they also offer ethical guidance so as to help patients stay informed about health care as well as reproductive decisions. This research paper provides a review of genetic counselling and the role it plays in at the front lines of genetic health, the impact it has on medical research, patient care as well as in education.

There are three ways that a mother can be tested during pregnancy to see if their child will have Down syndrome. One is amniocentesis, which is the removal and analysis of a small sample of fetal cells from the amniotic fluid. Amniocentesis can not be done until the 14-18th week of pregnancy and with this process there is a lower risk of miscarriage than with the other two processes. Another process is chorionic villus sampling (CVS), which is the extraction of a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy. The tissue is then tested for the presence of extra material from chromosome 21. Chorionic villus sampling has a 1-2% chance of the mother having a miscarriage. The last process is percutaneous umbilical blood sampling (PUBS), which is the most accurate method used to confirm the results of CVS or amniocentesis. During PUBS the tissue is tested for the presence of extra material from chromosome 21. PUBS cannot be done until the 18-22nd week and it carries a high risk of the mother having a miscarriage.

It can also be used to test for Tay-Sachs Disease, Fragile-X Mental Retardation, Cystic Fibrosis, Down Syndrome and Spinal Muscular Atrophy. In the past couples who wanted to have childr en, and were carriers of inherited diseases, worried about the possibility of their children inheriting the disease. Parents will no longer have this worry. In 1989, an English couple became the first to use PGD [Grady,1995]. It was used because they were at risk of passing along a form of severe mental retardation. Because it only affected sons, PGD was used to ensure that the couple had a daughter.

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.