Trimester Screening

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.

These methods of genetic testing are accurate, as long as the genetic origin of the tested disease is known (Mahdieh & Rabbani, 2013), but their reliability is harmed by the fact that the results determine probability of diseases occurring (Holt, 2012). Even though a test accurately determines the presence of a given mutation, that mutation may only indicate a patient’s predisposition to developing symptoms. Since other genes or environmental factors may play a part in the tested disease, the results of testing aren’t entirely reliable for a conclusion of whether or not a patient will develop the disease.

Parents who suspect they might be at risk are strongly encouraged to be tested before pregnancy. Pregnant mothers can have their unborn babies tested for Hex A deficit that causes Tay Sachs. If these tests do not detect the Hex A gene, the baby has the Tay Sachs mutation. If the tests do detect the Hex A gene, then the baby is perfectly healthy. Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus sampling or CVS. In this procedure, a small sample of the placenta is drawn into a needle or small tube for analysis. Between 15-18 weeks of a pregnancy, an expecting mother could have an amniocentesis to test for the Hex A mutation. This test involves a needle that is inserted into the mother’s belly to draw a sample of amniotic fluid that surrounds the fetus. Children are usually tested for Tay Sachs after having hearing, sight, and movement problems. The disease can be identified by a doctor through blood tests and screening.

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

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.

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

New that year, the American College of Obstetricians and Gynecologists began to offer a safer screening procedure to pregnant women of all ages, considering most children with the disease were born to mothers under the age of 35. Now, new mothers are able to know if their child has the extra chromosome with a simple sonogram and two blood tests, which has proved to be accurate without putting the child in

“When families get a diagnosis prenatally, they use the words ‘shock’, ‘sadness’, ‘disbelief’”, says Sarah Cullen of the Massachusetts Down Syndrome Congress. “ You feel like like the rug is pulled out from under you. You feel very heavy. You feel very, very alone” (Szabo 1). When parents receive the results of their prenatal test, many do not know what to do. They can feel very overwhelmed, because their baby is unhealthy and there may be nothing that they can do about it. Often the doctor does not know what to do either, because there may not be a cure for the disease.This kind of news alone is agonizing for parents. Mothers should not have genetic testing done to see if their baby has diseases because it causes unnecessary anxiety for the parents, tests may not always be accurate, and it is unethical.

When people have a genetic test done, whether it is presymptomatic, prenatal, newborn, or carrier testing, professionals have the ability to access them. This becomes a main concern of those who get genetic tests done because they have the capability of being dropped by their employer or insurance The companies cannot discard a person because of their genetic predispositions, but they can find loopholes to get rid of them legally. Direct-to-Consumer tests, however, cannot be accessed by employers or insurance companies without consent. “Thanks to the Genetic Information Nondiscrimination Act (GINA) signed into law in 2008, consumers need not worry about the impacts on their health insurance policy and employee status as a result of pursuing DTC genetic testing” (Su 1). This way, a person can understand their genetic predisposition without the fear of being dropped by an insurance or an employer.“The initial criticism of DTC genetic testing highlighted harms from both advertising of tests and access to tests in the absence of a health care provider intermediary” (Javitt and Hudson 2), but Direct-to-consumer tests remove the fear of outside companies finding out about their susceptibilities to genetic diseases. Many people believe Direct-to-consumer tests can be inaccurate, but with the extensive knowledge of DNA, and what is not discovered, there will be mistakes whether it is done by a medical professional or not.

This must be done before digging into the problem of weight. According to the Mayo Clinic, the disease commonly called “Down Syndrome” exists because of extra genetic material on the 21st chromosome. They say it is the most common genetic mental disability and can cause a wide variety of intellectual disabilities and developmental delays (2014). Almost 95% of cases are present because of nondisjunction, or the chromosome failing to separate during cellular division (Murray 2010). Trisomy 21 can be detected prenatally by looking at the chromosome makeup of a fetus. At this point in the United States, the typical treatment is to offer a blood test to all pregnant women, something that was first seen in the 1970s (Roizen Paterson 2003). The combined serum test has a 69% detection rate for Trisomy 21 in women (Roizen Patterson 2003). Immediately after birth, newborns with down syndrome are tested for congenital heart failure, hearing loss, and ophthalmological problems. Other frequent problems include Atrioventricular septal defect, ventricular septal defect, isolated Secundum atrial septal defects, isolated patent ductus arteriosus, and isolated tetralogy of Fallot. Some of the heart diseases will not show up until later in life due to other complications (Roizen Patterson 2003). Down Syndrome is classified by a very specific

Pre-Natal testing is also available, where cells are taken from the amniotic fluid between 15 and 20

Dezateux and Rosendahl (2007) stipulate that the overall effectiveness, harm and benefits of the examination remain controversial. Furthermore the view of the UK National Screening Committee is that if the introduction of screening for developmental dysplasia of the hip were considered now it “would probably not be accepted.” However it is difficult to obtain clear evidence about the effectiveness of the examination of the new born as it is deemed unethical to conduct a randomised controlled trial in which are group of babies do not receive an examination (Townsend et al, 2004).

Researchers have demonstrated that fetal genetic material found in maternal blood can be used to screen for fetal aneuploidy. This allows a potentially safe and easy means for detecting chromosomal abnormalities during pregnancy by a simple blood draw. Although less invasive than chronic villus sampling or amniocentesis, non-invasive prenatal testing (NIPT) failure rate ranges from 1% to 8% and varies depending on the laboratory and the methodology used. Researchers are now focused on finding a new standardized test with significantly less false positive results to ensure expecting mothers obtain the correct information concerning the health of their

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.

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.