Prenatal Diagnostic Testing

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.

Christine Le, an accountant living in Flushing, New York, gave birth to a healthy baby “Nathan” on January 29th, 2010. She found out that she was pregnant with her first child when her period was late. She had the routine prenatal care starting at 12 weeks and delivered at 40 weeks in a hospital with the present of her husband, Robert, and the in-laws. To insure her baby was healthy, Christine underwent several prenatal diagnostic methods like amniocentesis to examine for genetic defects. Another method was ultrasound; its purpose is to assess fetal age, multiple pregnancies, size and shape of the fetus. Christine underwent numerous lab tests to ensure that there are no complications (Berk, pg.43). Lab tests like a complete blood count that screens

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.

The discovery of free fetal DNA circulating in maternal blood during pregnancy revolutionized noninvasive prenatal diagnosis. Advancements in prenatal diagnosis in the past decade have enabled clinicians to accurately diagnose genetic abnormalities in the fetus earlier and without risk of miscarriage as is associated with amniocentesis and chorionic villus sampling. Sequencing and analysis of the fetal genome has not only improved prenatal diagnosis of chromosomal aneuploidies, but also subchromosomal aberrations and monogenic disorders. This lends parents earlier and more specific information that may guide their decisions during pregnancy to benefit

Also, using an ultrasound is a great way to make sure that everything is okay with the mother during the pregnancy. The doctor can also see if there is more than one fetus and the gender of the fetus to prepare the parents for what they will need to be gathering for the future.

Some of the diagnostic test Jennifer may expect would be a maternal blood test, amniocentesis, and a chorionic villus sampling test. These tests can tell her whether her baby has birth defects of the brain and spine (maternal blood test), also to see if the baby has chromosomal birth defects such as, Down syndrome, muscular dystrophy, and cystic fibrosis (amniocentesis test), and CVS test, which tests for the same birth defects as amniocentesis, the results just come back quicker, but do not give enough information, therefore an amnio test is recommended as well. The risks associated with these diagnostics can result in a miscarriage.

With relatively new technology, doctors are able to detect many things about a baby while it is still in the womb, including conditions resulting in mentally retarded infant. Ideally, this should be a rather pointless endeavor, with the only real benefit being

The right of every human to a standard of living that ensures health and wellbeing independently of race, religion, geographic location, social status, and political views , is often viewed as a way of guaranteeing individual dignity and development (United Nations).

Soon after birth, all babies born in the United States will check for a specific disease. This is called newborn screening. All infants look healthy because they can see from just a baby emergency and screening. Finding these conditions soon after birth can prevent severe problems such as brain damage, organ damage and even death. For example, if the baby's body is capable of handling phenylalanine, make a test (PKU) for phenylketonuria. Phenylalanine is a result of brain damage found in some of the many protein-rich foods and sweeteners can be built on the blood and tissues of a baby with PKU. PKU and baby are put in a special case to avoid the diet initially. Babies are tested for hypothyroidism means that the body does not make enough thyroid hormone. Hypothyroidism baby can take hormonal drugs to prevent a slowdown in growth and brain damage that can occur if not treated hypothyroidism. Also, baby with sickle cell disease are at

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

Karen and Roger have decided to start a family. Again. It has been nearly six years since their first and only child, Katie, was born, and just over two years since she died. In her four years of life, Katie was plagued with the fatal Tay-sachs disease. Because the enzyme needed to rid her brain of fatty materials was absent at birth, she lost her sight when she was only eighteen months old. Her ability to operate the left side of her body was gone several months later.

an amniocentesis. For some women, this is an option, for others, this is a must due to previous

Doctors can tell by doing fetal ultrasounding, certain blood studies, amniocentesis, which is a test done during pregnancy to look for problems in the developing child, and chorionic villus samplings. If a positive result comes back from the screening doesn’t necessarily mean that a child will have

Since the 1970s electronic fetal monitoring has grown to be the single most prevalent obstetrical intervention, used in over 85 percent of hospital births as of 2010 (ACOG Practice Bulletin 132). Electronic fetal monitoring is intended to detect abnormalities in

Currently, there are four prenatal diagnosis techniques used. The first, and safest method, is an ultrasound. It is noninvasive and can assess and evaluate gestational age, fetal position, growth, development, and any structural birth defects. When performed by highly skilled operators, abnormalities can be detected with as high as 90% accuracy (IOM 1994).