ENGL 302 N04

AMRIN CHOWDHURY

English 302 N04

Research Paper

Prenatal Testing

Introduction

Diagnosis of abnormalities in unborn babies has become an integral aspect of physicians of obstetrics and gynecology. Whether it is determining the sex of the fetus or detecting any genetic effects due to chromosomal mutations, prenatal diagnosing or genetic testing, as it can be called, is seemingly very popular nowadays with the rise of advanced technology that promises a better future for everyone. Prenatal diagnosis evolved ever since doctors were able to attain a little bit more information than the basic family history of their patients. Today, the vast number of tools and devices, in association with better technology only allows more extreme understanding of prenatal diagnosis and how to accomplish them. Nevertheless, certain procedures for prenatal testing, with new and embellished techniques, can also intrigue drawbacks to patients and promote risks and side affects. In addition, it can cause a build up in financial matters and risk prospective mothers emotionally, and more likely cause damages to the fetus or the mothers that can just as well be fatal. These problems can then lead to the questioning of terminating a pregnancy and eventually raises more questions about prenatal testing (Goodman and Nightingale, xi).

A very common procedure that many mothers to be and physicians attempt to try and consider, respectively, is the process of amniocentesis. This process became very essential in the obstetrics practice here in the United States and is growing It is a process of inserting a needle into a mother's womb to collect some fluid for chromosomal abnormality. Detailed explanation will be provided during the latter of this discussion. Amniocentesis is done to detect a number of genetic diseases a fetus may carry and one can only imagine how these diseases can be prevented. They are not all prevented. Most of them are not, although very few can be treated under careful laboratory works in the microscopic level to counteract the specific abnormality. In addition, amniocentesis can only diagnose by testing with the amniotic fluid sample and this sample provides only some genetic diseases. Taking into consideration of the many diseases passed on hereditarily or genetically, a fetus can not succumb to all those with only an amniocentesis. True, the procedure has value and can answer certain question but does not guarantee what we might call a normal child. In essence, since amniocentesis does not prevent any possibly diagnosed diseases in the unborn baby but can cause mishaps such as miscarriage, infection in the prospective mother, and emotional stress, the procedure should not be formed.

Amniocentesis

Amniocentesis has been a very common procedure for prenatal testing for the past twenty years. Studies with amniocentesis started in 1982, when only 2 percent of pregnant women were getting it done. Pregnant women over the age of 35 were using it (Burke and Kolker, 68). Surveys showed that more women were getting it done and were told to consider it because the birth defects history of their family would be known. Other times, women were aware of the birth defects and simply did not want the process to undertake (Burke and Kolker, 69).

It is traditionally done during the midtrimester of the pregnancy. According to Shulman and Elias (1993), the increase for prenatal testing has led physicians to carry out amniocentesis during the first and second trimester (260). Second trimester amniocentesis to detect any chromosomal abnormalities in a fetus became more standard as the procedure became more popular.

Procedure and Steps

Second trimester is usually fourteen to twenty weeks of gestation and it is when amniocentesis is performed. To proceed the process, an ultrasound, a medical imaging technique that is used to visualize muscle tones and other internal organs, is performed. This process will allow physicians to evaluate the location of the fetus, the position and state of the fetus, determine the quantity of the amniotic fluid, and confirm the gestational period. Figure 1 shows an example of an ultrasonogram of an amniocentesis. These information are crucial in proceeding with amniocentesis because valid details and essentials are needed to work throughout the whole process to determine accurate abnormalities, if any. In addition, to the ultrasonography, a session of counseling is needed. This is when all indications of benefits, advantages, disadvantages, risks and benefits are mentioned to the patients in their native language. This second step is important in which it acknowledges patients with useful information about what they will undergo, since it is not a hundred percent safe test, although can be thought of similarly.

a sonogram

Figure 1

Following these two steps, the actual medical procedure for amniocentesis takes place by selecting or determining a careful location to insert the needle into the amniotic sac. This insertion site is cleansed with an iodine solution and is wiped off with sterile wipes. Some obstetricians, physicians involved with this procedure and any other concerning fetal care and maternity, utilize anesthesia such as lidocaine, although it can be unnecessary but is done for diminishing the pain.

The way the 22 or 20 gauge needle is insert is called transabdominally and meanwhile, ultrasonography is provided for careful insertion and to observe for any internal damage that can occur during the very seconds of needle insertion. Entry into the amniotic sac can be felt with a popping kind of minute sound, although it might not always mean the needle has successfully entered the amniotic cavity, especially when the process is done before 14 weeks. Once the needle is inserted into the cavity, a syringe is attached and about a milliliter of amniotic fluid is aspirated. Amniocentesis that is done in second trimester between 14 and 20 weeks involves the collection of 20 to 30 milliliters of amniotic fluid. If fluid does not get aspirated, that usually means the needles was not inserted properly or entry to the amniotic cavity did not occur. Also, with amniocentesis performed before 14 weeks, aspiration failure can be very common because the amnion, the sac containing the amniotic fluid or the inner layer of the amniotic sac, has not been fused with the chorion, what surrounds the embryo and outer layer of the amniotic sac, so early in the pregnancy. Failure to aspire the liquid can also result from tissue blockage from the needle tip and surrounding membranes. The aspirated fluid must be discarded to prevent any contamination of the specimen by maternal cells.

Intrication

Following this step, more ultrasonography is done to monitor the cardiac activity of the fetal to look for abnormal bleeding in the placenta, the umbilical cord, or from the fetus itself. Finally, to all negative and unsensitized patients, who are Rh negative, an Rh immune globulin is administered. Rh factor is a factor present in blood. When there are differences in the presence or absence of Rh factor between mother and fetus, it can result in an immune response being mounted from the mother against the fetus; thereby, possibly harming the unborn baby.

Since an amniotic sac consists of the two sacs, amnion and chorion, both sacs bust have enough amniotic fluid. When fluid is aspirated from the first sac, some sodium solution known as indigo carmine is injected before the withdrawal of the needle. Then a second amniocentesis is done where the second amniotic sac is evaded and this is successful when clear amniotic fluid is aspirated. With single pregnancies, the procedure-related risks can be greater than multiple gestations, although some experienced physicians can carry out the procedure with minimal risks (Elias and Shulman, 1993).

After completion of the amniocentesis, patients are told to restrict themselves from any strenuous activities.

Effects

Although amniocentesis can diagnose chromosomal disorders and open neural tube defects that can include spina bifida, for one, it does not and can not for the most part prevent the fetus from attaining these disorders or diseases. The procedure only prepares the prospective mother and related people emotionally and physically, at time, educating them with what to expect and what not to expect. According to VCU Health System, amniocentesis "confirms a tentative diagnosis of an abnormality found with other testing" or that a fetus does not have an abnormality which was thought of or was predicted and vice versa (VCU Health System, 2006). They also say amniocentesis help couples plan their family better with prior knowledge of their baby and what to be ready for if there are questions raised in the future.

University of Pennsylvania's Dr. Michael T. Mennuti, MD, chairman of the Department of Obstetrics and Gynecology also agrees but conveys strongly that there are risks and complications (Mennuti, 1997). Similarly, VCU Health System also shares this feeling, although to a point where they state that "The American College of Obstetricians and Gynecologists (ACOG) does not recommend early amniocentesis before 13 weeks" (VCU Health System, 2006). However, the risks are still involved regardless of when the procedure is done, whether during the commencement of the pregnancy or in the latter of the pregnancy.

Complications consist of the concerns of the women, who are afraid the needle might hurt their baby, which can occur frequently and infrequently depending on the setting of the amniocentesis and if the process was successful. The point is this complication did occur. Many might agree that such a complication can result in scarring and the scar can be removed cosmetically but the baby will also be born with a permanent scar and perhaps, with internal infection (Mennuti, 1997).

A miscarriage is one of the risks. Physicians will be curious as to whether or not the miscarriage happened because of the amniocentesis because it can be that the miscarriage occurred from some other factor or was meant to happen. Miscarriages often occur at gestations prior to 20 weeks. It can be defined as an accidental termination of a pregnancy because the fetus can not survive in its amniotic fluid due to internal damages or other factors leading to the damage of the amniotic fluid for the survival of the fetus.

In the same way, abortion can be interpreted for marriage when speaking of amniocentesis. Because of the minor side affects resulted from amniocentesis, a miscarriage can take place. If miscarriages do not take place, a mother can be told of such infections that might have spread to the internal organs due to aspiring out the liquid from the amniotic sac or even from the nature of entering the skin of the womb with a needle.

Other complications are dealt with emotions. Studies show that those who showed concerns for having an amniocentesis and those who went and attended counseling sessions did not feel positive about it. Prenatal testing counseling did not offer any helpful guidance and just dissuaded the patients more. This just goes to show that not much thought processing went into the subject topic and risks and side affects might have been missed. In conclusion, it is safe to say that choosing prenatal diagnosing for a fetus does not only cause harmful and physical damage to the fetus and the prospective mother but can also bring emotional distress.

I used EndNote.

References

Mennuti, Micheal T., "Amniocentesis" 1991. 1 Oct 2006. http://www.obgyn.upenn.edu/genetics/Amnio.html

United States. Center of Disease Control and Prevention. "Chorionic Villus Sampling and Amniocentesis: Recommendations for Prenatal Counseling." July 1995. 29 September 2006. http://wonder.cdc.gov/wonder/prevguid/m0038393/m0038393.asp.

"Prenatal diagnosis: the medical genetics perspective. Ethics and Public Policy Committee, Canadian College of Medical Geneticists." Canadian Medical Association Journal. 144(9): 1129-1132, May 1991.

Elias, S. and Shulman, L..P. "Amniocentesis and chorionic villus sampling." Western Journal of Medicine. 159(3): 260-268, Sep 1993.

Burkell, J. "What are they chances? Evaluating risk and benefit information in consumer health materials." Journal of the Medical Library Association. 92(2): 200-208, Apr 2004.Burke, B. Meredith and Aliza Kolker. (1994). Prenatal Testing: A Sociological Perspective. Connecticut: Bergin and Garvey.

Goodman, Melissa and Elena O. Nightingale, M.D. Before Birth: Prenatal Testing For Genetic Disease. Massachussetts: Harvard University Press.