Amniocentesis is a very common procedure conducted today to determine either the sex of the fetus or to diagnose any abnormalities. It is usually conducted during the second trimester of pregnancy, when a needle is inserted to the amniotic sac and approximately 1 ml of the fluid is obtained. This is repeated about 20 times and the fluid obtained is analyzed to determine the blood type, and genetic make up which can provide vital information. Therefore, amniocentesis can help parents find out about the health of their baby, and if it has any chromosomal defects, neural tube disorders or others such problems. However, this procedure also carries the risk of the injection contaminating the amniotic sac, which can in turn lead to miscarriage as the fetus cannot survive in the changes in the fluid. Also, this procedure does not prevent these disorders, but just helps in the diagnosis and emotional preparation of the patients.
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, is very common nowadays with the rise of advanced medical technology. Prenatal diagnosis came into use after doctors were able to attain a little bit more information than just 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 have drawbacks, as they might promote risks and side affects to. 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).
Prenatal diagnosing is carried out by women who are at the age of 35 or even higher during the time of delivery or pregnancy, as a matter of fact. These women choose prenatal diagnosing because, as told by their gynecologist, or a doctor who specializes in treating diseases of the female reproductive organs, they have a higher risk of giving birth to infants with some kind of chromosomal defects or who are more likely to be born with genetic diseases. This risk is due to the aging of a woman's ovum, which increases with the age of the woman. Therefore, prenatal diagnosis, where available, is offered to those who prefer to know the outcome of their babies' health before they are born.
A very common procedure that many mothers to be and physicians attempt to try and consider, is the process of amniocentesis. This process became very essential in the obstetrics practice here in the United States and is still growing. It is a process of inserting a needle into a mother's womb to collect some fluid to check for chromosomal abnormalities. 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. Chairman of the Department of Obstetrics and Gynecology University of Pennsylvania, Dr. Michael T. Mennuti says "when a woman has this test, and then miscarries, it usually cannot be determined if this was due to the test or if this was one of the pregnancies that would have miscarried without the test having been performed."
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 they can be more knowledgeable about the history of their hereditary diseases, if any. Other times, women were aware of the birth defects and simply did not want go alone with the process, due to medical reasons or anonymous reasons (Burke and Kolker, 69). Dr. Mennuti of University of Pennsylvania thinks many women are concerned about the process of the amniocentesis and that the needle may injure the fetus. Although this argument can be true, many people do believe the medical professionals will carry out any procedure successfully and will do very little to hurt any unborn fetus, or any patients as a matter of fact.
Amniocentesis is traditionally done during the midtrimester of the pregnancy. According to Shulman and Elias (1993), the increase in 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 the ideal time to carry out an amniocentesis if proposed by the doctor and agreed by the mother. Second trimester is usually fourteen to twenty weeks of gestation. To precede 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. This information is crucial in proceeding with amniocentesis because valid details and essentials, that include clear visuals, 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 one hundred percent safe test, although can be thought of similarly.
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. Figure 2 shows the insertion of the needle and ultrasonography during the process of amniocentesis. Figure 3 shows the different parts of a woman's uterus, including the fetus, in addition to the illustration of the needle used in amniocentesis. 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. Lidocaine is a type of anesthesia that can be used for any major procedure or minor procedures, such as giving a cortisone shot to an arthritis patient or injecting a patient to get fluid out of their body, such as seen in the process of amniocentesis. Patients are given the choice of getting anesthesia, although health professionals will agree that choosing anesthesia can come in great help, as it eases the pain.
The way the 22 or 20 gauge needle is inserted is called transabdominally and meanwhile, ultrasonography is utilized 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 sound, although it might not always mean the needle has successfully entered the amniotic cavity, especially when the process is done before 14 weeks of gestation. A syringe is attached to the needle that is inserted into the cavity and about a milliliter of amniotic fluid is aspirated.
Amniocentesis that is done in late 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 were not inserted properly or entry to the amniotic cavity did not occur. These observations are again made by analyzing the effects of the ultrasound. 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, the thin layer surrounding 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
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 must have enough amniotic fluid. When fluid is aspirated from the first sac, a 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).
Aftermath Of Amniocentesis
After completion of the amniocentesis, patients are told to restrict themselves from any strenuous activities. According to Virginia Commonwealth Univeristy Health System, some women can feel cramping either during or after the process of amniocentesis. In some cases, women who are expecting twins may need multiple sampling of liquid from each sac from the twins. This is done to test and study each baby. Both doctors and patients or mothers, in this case, have to keep in mind that depending upon the position of the baby, in addition to the placenta, the amount of fluid, and the mother's health and anatomy, amniocentesis cannot be performed.
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 stage 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. 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 also 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 miscarriage 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 defects include the limb deficiencies. Limb deficiencies were seen among infants whose mothers underwent prenatal diagnosing, such as amniocentesis. These deficiencies can either be anatomic or pathogenic. Some limb deficiencies were shown at the distal or lower part of the body, absence of parts of one or more fingers and/or toes, absence or hypoplasia of the tongue or lower jaw. The latter occurs rarely, 1 per 200,000 births, according to CDC, Center for Disease Control.
Other complications are dealt on the social aspect. Any form of prenatal diagnosing can intrigue curiosity towards what kind of health state their infants will be born under. 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 (Burke and Kolker).
Conclusion
Prenatal diagnosing, in any form does not guarantee the curing of any fetus of possible genetic defects or hereditary disorders. More so, it does cause havoc, in which it creates injuries or casualties various ways. These casualties are guaranteed and are assured by doctors to the patients. In contrast, having an amniocentesis done does not assure the patients of having disorder-free infants; rather, the process just acknowledges them of the technology that is used to detect these genetic disorders the fetus might have and prepares the patient or the mother and relatives and friends for what to be expected. 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 does not even cure majority of the genetic disorders that are successfully diagnosed. Those at that situation should really give it a second thought to see if they want to suffer through what might be a short lasting, yet a crucial pain, or just go through the process of prenatal testing and have their wishes come true, knowing what their infants will be born with. Only, the latter can bring tension, stress, and much more emotional factors only to those who are weak at bearing long term mental pain. Hopefully, it will be a better outlook for others who are willing to go ahead and be much more intellectual about medicine technology and the rather amazing discoveries it can contribute to life.
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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.
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