New Born Screening Research Paper

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

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

The document examines the Newborn Screening: Genetic Diseases: Blood Samples Collected Bill No. 170, introduced by Assembly Member Mike Gatto on January 22, 2015. The law requires to amend Section 125000 of, and to add Sections 125003, 125004, and 125005 to, the Health and Safety Code, relating to newborn screening. According to the bill, the State Department of Public Health is required to establish a program for the genetic disease testing and follow up services for newborn children. All newborn children statewide are subject to a screening, unless it violates their parents’ or legal guardians’ religious beliefs and practices.

They were very grieved at the start when they saw this condition of the child. But they summoned up the courage and decided that they will not lose hope. They will bring him up like a normal child and they will not fear what the doctors has said to them about their child.

Newborn screening is methods that for harmful to certain other identified at birth or potentially fatal test all newborns for the disease. Most of these (often referred to as "congenital metabolic error") maintain healthy tissues and interfere with the body's use of energy producing nutrients are metabolic disorders. Screening can detect other disorders are problems with hormones or blood (Newborn Screening Tests,

In the eyes of new loving parents, babies are perfect in every way. Perhaps, mothers and fathers count fingers and toes of their new baby, carefully inspecting their child for any deformities. After finding all body parts in just the right place, and hearing the beautiful sound of the baby’s first cry, parents deem babies perfectly healthy in every way. But there could be something lying beneath the physical appearance that could be harmful to the new baby.

As shown above, we took the risk of not disclosing the genetic anomaly from our niece, not to be insensitive, rather prepare her mind and emotions from when the time comes that she has to attempt one on one with the screening test to find out her fate.

Technology has come so far in todays time that we can learn so much about our babies before they are even born. The tests can now even tell you if your child has or is in danger of any health problems, such as heart problems, mental disabilities, etc. If I was a mother or expecting mother I would want to be aware of any problems with my child. If the doctors are aware of the problem, then they can go ahead and fix it before it becomes worse. I was born a health baby or so we though. I never had any problems growing up until a couple of months after my sixteenth birthday. I went to the doctor for a normal case of strep throat and the doctor told me that I had a heart murmur that I should get checked out. I went to see a cardiologist

Remarkably one the most evidential successes of the last 51 years was the onset of the Newborn Screening process. According to the CDC, The Center for Disease Control, over “twelve thousand newborns per year are diagnosed with one of the twenty nine core conditions that are detected through newborn screening. This means that almost 1 out of every three hundred newborns screened is eventually diagnosed.” These screenings test for amino acid disorders, endocrine disorders, fatty acid and hemoglobin disorders as well as the newly added congenital heart disease disorders. “Newborn Screening helps to prevent certain treatable conditions. Babies with certain conditions need treatment in early infancy to prevent severe ill health. Newborn screening

If the results are positive for a genetic fetal anomaly, it will most likely be a devastating blow to the expecting parents so healthcare workers should take extra care to be empathetic. Parents will probably have many questions such as how did this happen? What are the chances of survival? Will the child live in pain? Are there any cures? Etc. The healthcare worker should attempt to answer these questions calmly and should provide the most accurate, unbiased, and comprehensive information that is possible about the anomaly. In addition, the healthcare worker should have already researched what support and services are available so the healthcare worker may provide the parents with as many resources as possible to assist them with future care,

I chose to answer the question, about how I would counsel a patient asking, “Why do I need this blood test”, while making sure I provide anticipatory guidance. Anticipatory guidance, is a nursing intervention, where a nurse explains to a patient, in this case the mother, about developmental and situational crisis to anticipate. As a nurse providing anticipatory guidance, I would describe everything that the patient should expect from this screening; no surprises. I would then describe the screening test, Maternal Serum Alpha-Fetoprotein, is to look for neural tube defects which can cause a spectrum of problems; such as death. I would then educate the patient that this blood test is the only way to see if the patient’s baby is at risk; family

Through this diagnostic phase the family was faced with the unknowing and the constant wonderment of why their son was not completing his milestones. Also, I believe Emily, the mom, felt a sense of guilt for not knowing that standard prenatal screening she was given was

Brody, Jane E. "Breakthroughs in Prenatal Screens." New York Times. 08 Oct. 2013: p. D.5. SIRS Issues Researcher. Web. 02 Feb. 2014. This article explains the unique development in prenatal screenings. Down syndrome, a chromosomal abnormality disease, occurs in about one in every 700 births in the U.S. At 10 weeks of pregnancy a mother’s blood contains about 10 to 12 percent of the DNA that belongs to the fetus. With the use of a new screening test the blood can be tested in order to see if the fetus will acquire Down syndrome. This test is far more accurate and less invasive than any other tests on the market. If the test comes back positive the woman will then decide is she would like to undergo an amniocentesis or a chronic villus sampling (C.V.S.). In pre-modern times royal families often tried to have intermarriage between relatives. This would allow for a pure blood line which was most often seen in Western Europe. As a result there were many deformities and birth defects with the infants born. Due to the lack of technology, these diseases could not be foreseen.

The doctor advises the possible results that might come out of this diagnosis. The patient and her husband are trusting this doctor to respect their decision. Beneficence influences the doctor to act in the best interest of the patient's welfare and it is methodically connected to non-maleficence, the obligation to do no harm (Clinical Ethics p.43). If the patient decides to end her pregnancy the doctor has to respect their decision causing non-maleficence to the fetus. Autonomy and Non-maleficence come in conflict with abortion in this case. It is the patient's legal right, with no justification required to terminate her pregnancy. Regardless if something is or is not wrong with the fetus, it needs to be done. It is in the patient’s best interest to get the diagnosis started right away. A normal fetus will not have abnormalities in a prenatal diagnosis. There is no say the fetus is normal when testing has not been done. However, the parents will have an abortion if the fetus carries two copies of the gene, or the fetus carries no copies of the

Many young people aspire to get a companion in the near future, settle down and raise a healthy family. This happens successfully when couples are themselves healthy. However, this desire is sometimes ruined when couples who have already settled realize that one of them had a hereditary disease that was diagnosed earlier before the couple got married. The couples therefore end up having sick children. To counter or minimize the chances of raising sick children, some countries have gone ahead to pass legislation and make it compulsory for couples to undergo premarital checkup and screening before they settle down so as to get relevant counseling on their health and determine whether they can continue with their relationship.