Implications for Genetic Counseling and Improved Patient Care - Essay Example

Ucard Number: of Assignment: Summative Assessment of Antenatal Screening Number of Words: 2997 Unit Antenatal Screening and Genetic UnitCohort: Submission Date: Assessment of Antenatal Screening: Implications for Genetic Counseling and Improved Patient Care Introduction The elucidation of DNA structure (Watson and Crick, 1953), the central dogma of molecular biology (Kornberg and Baker, 2005), and the human genome sequence (Collins et al, 2003) provided the major boost for advances in the fields of genetics, genomics and molecular biology. The benefits to the human race are seen mostly in the medical field where the identification of important gene sequences have led to a plethora of genetic tests that are meant to detect the presence and understand the pathology of disease, its mechanisms, prevention and cure. Coupled to these are the development of rapid diagnostic tools in molecular biology like the polymerase chain reaction, microarray technology and DNA sequencing facilities (Berg et al, 2002; Mathews andVan Holde, 1996). In obstetrics, many antenatal tests are offered at different gestational periods (British Columbia Reproductive Care Program, 2003). Options for genetic testing are given to the mother once she presents as pregnant following the guidelines set by the country’s National Health Service (Department of Health, 2007). Issues that surround antenatal genetic screening are those that pertain to the safety of the fetus and the mother due to the sampling procedures, the implications for the termination of the pregnancy if the tests come out with a prediction or detection of serious genetic illness, the provision for an informed choice to the mother and/or father, and the roles that the medical practitioner play during the antenatal period (Rothenberg and Thomson, 1994; Kent, 2005). The aim of this paper is to present basic antenatal screening procedures, the difficulties and genetic counseling associated with the decision-making process towards pregnancy termination, the roles that health care personnel play during this period, and antenatal care of the mother who decides on the fate of her unborn child. Antenatal genetic screening: procedures and outcomes Each person is different from all others because of his distinct DNA. This DNA codes for his genes, and these genes are translated to the proteins or enzymes that are involved in basic metabolic processes of life (Mathews and Van Holde, 1996; Alberts et al,2002). When there is a defect in the genetic code, an erroneous protein is produced and the metabolic process where this protein participates in is affected resulting in disease. There are many causes of genetic defects because of the several essential processes leading to the correct translation of the protein code (Kornberg and Baker, 2005). Single errors or mutations in copying a piece of DNA can lead a change in a single nucleotide with devastating results, as in the case of sickle cell anemia (Epstein, 1997) and Gaucher disease (Genes and Disease, 2008). Transfers in chromosomal segments lead to diseases like Burkitt’s lymphoma (Alberts et al, 2002). Thus, genetic issues cannot be ignored because they can have serious implications for future pregnancies especially if a woman is a carrier for a deadly genetic disease (Shapira and Dolan, 2006). Due to the fact that the DNA of the mother and the father contribute equally to the DNA of their children (Kornberg and Baker, 2005), this genetic combination could result in genetic diseases in the child that can either be observed at childbirth or slowly revealed as the child matures into an adult. Thus, antenatal screening starts with the mother, and if necessary the father, especially if his family has a history for serious genetic disease. Antenatal screening involves routine tests and genetic tests that are given from the first to the third trimester of pregnancy. The routine tests are for blood group, hepatitis, human immunodeficiency virus and other disorders of the mother that can be detected using blood, urine and tissue samples (British Columbia Reproductive Care Program, 2003), ultrasound scans (Abbott, 2008), and nuchal translucency (to measure the thickness of the back of the fetus’s head in order to calculate a risk factor for certain diseases) (Wald et al, 2003). Fetal screening tests during the first trimester are used to categorize the women into high, low or intermediate risks groups (Benn et al, 2005). High risk women are offered early diagnosis, low risk women do not undergo second trimester testing, and intermediate risk women are offered second trimester testing. The most common genetic test conducted is for Trisomy 21, an abnormality in chromosome 21 which results in Down’s syndrome (Wald et al, 2003). Other DNA-based diagnoses of inherited conditions are for cystic fibrosis, muscular dystrophy, hemophilia, and hemoglobinopathies (Cohen et al, 1993). In 2006, sickle cell screening was initiated for English women who were found to be at risk based on their medical history and blood tests (Kmietowicz, 2006). The potential and presence of chromosomal abnormalities and inherited genetic defects in the fetus carried by women over 35 years old can be detected through genetic screening by taking samples of fetal cells through chorionic villi sampling (CVS) or amniocentesis (Centers for Disease Control and Prevention, 1995). CVS is recommended earlier at 10-12 weeks gestational age while amniocentesis is offered from the 15th -20th week of pregnancy (British Columbia Reproductive Care Program, 2003). CVS utilizes either a needle or catheter to take samples of placental tissue that are derived from the fertilized egg. Amniocentesis involves taking samples of the fluid surrounding the fetus, which contains cells that are shed from the fetal skin, gastrointestinal tract and bladder (Centers for Disease Control and Prevention, 1995). Samples from both procedures can be used for the same genetic tests. However, both procedures carry risks of miscarriage. A review of studies conclude that CVS procedure-related miscarriages vary widely depending on the center where the CVS was performed, the adjusted miscarriage rate averaging 0.5-1% (Centers for Disease Control and Prevention, 1995). The same report also cites cases of limb deficiencies in infants whose mothers have undergone CVS, and uterine infections due to the procedure. The effective timing of the antenatal tests had been studied. Tests results from the first trimester were very similar to results in the second trimester (Wald et al, 2003). Contingent screening during the first trimester is recommended for prenatal screening for pregnancies that are suspected to be affected by Down’s syndrome (Gekas et al, 2009). Amniocentesis for women younger than 35 years is deemed not cost effective, and aside from leading to miscarriages brought about by the amniocentesis procedure. Undergoing prenatal testing is still subject to the woman’s consent, and countries have variable ways to present this choice to women especially in screening for Down’s syndrome (Hall et al, 2007). Some countries like China, give only negative about Down syndrome, which gives the woman no other choice but to undergo screening lest she is carrying a defective fetus. The United Kingdom gave the most information and was the least negative about Down’s syndrome. Variability in giving information could be attributed to cultural differences among countries studied. Other factors like the financial status of the family can also affect the decision to go ahead with the screening (Kazanjian, 2005). Counseling after results of antenatal screening show fetal anomaly Care for the pregnant woman starts as soon as she has booked an appointment with the clinic, and continues until after the delivery. Genetic counseling are made available for mothers or couples once they are offered the option of antenatal screening, and when the results have been released and the patient needs to be informed. In the case of abnormality in the fetus, counseling is necessary when they have to make a choice between continuing and terminating the pregnancy (Marteau et al, 1994). Most medical practitioners are involved in counseling, although the manner and degree in which counsel is given would depend on how much knowledge the practitioner has on the process of antenatal screening, the interpretation of its results, an understanding of disease progression, care for a diseased infant, and information on other factors necessary for the mother to make a choice. It is important to distill the large amount of information into the basics and the most essential, which can provide the parents with enough information to make the correct choice for them. Effective and sensitive communication skills are necessary in imparting to the couple or the mother the results of the antenatal screening that point to a fetal abnormality (Chitty et al, 1996). It is important that medical practitioners do not allow their personal feelings to show and influence the decision that parents make (Marteau et al, 1994). This is a tough requirement for midwives who have been caring for the mother and delivering babies through time (Abbott, 2008). For the midwife, it is therefore necessary for them to clearly understand how genes contribute to disease. Genetic counseling has expanded with the increase in the application of genetics in the field of medicine (Ciarleglio et al, 2003). Despite the influences that different sectors of government, religion and civil society hope to impose on the necessity of genetic testing to prevent births of genetically defective infants, the right of the parents or mother to be informed, or not to be informed of the child’s genetic make-up is still the founding principle of genetic counseling. There are two types of counseling in pregnancy, for parents who have concerns about the potential risks of pregnancy, and parents dealing with a negative fetal diagnosis. Fear of a risk of a fetal anomaly is the biggest fear of a parent, which can be overwhelming. To help a parent cope, issues surrounding the fear have to be admitted, explored and acknowledged during counseling. Several steps are recommended to help parents come to terms with the diagnosis (Ciarleglio et al, 2003). The counselor should assess the parents’ understanding of the diagnosis, and if the parents have means of coping with the situation. The counselor should also discuss the diagnosis, implications of having a sick child, treatments available in order determine how to manage the pregnancy. Further testing is also recommended, so is further consultation with other medical practitioners. Information on the low penetrance, treatable diseases can help a patient decide on continuing with a pregnancy. An example is Gaucher disease, which results from a deficiency in the enzyme glucocerebrosidase, that is involved in the breakdown of a certain fat called glucocerebroside (Alberts et al, 2002). Enzyme replacement therapy became available in 1991, which can stop Gaucher disease, the most frequent autosomal recessive disorder among Ashkenazi Jews. Genetic counseling for 82 couples in Israel before genetic testing for this condition was regarded as insufficient, however, counseling improved after results of the tests came out (Zuckerman et al, 2008). The genetic counseling was interpreted as directive towards a prenatal diagnosis but against termination of fetuses that were found positive for the disease. However, there were some mothers who terminated their pregnancies, with half regretting the decision later on (Zuckerman et al, 2008). Women who choose to terminate the pregnancy after an antenatal diagnosis may be given counseling by several health professionals, who may differ in their approach to counseling and view of fetal abnormality. A study showed that the differences in approach were very evident for Down’s syndrome, where genetic nurses were the most objective in their counseling followed by geneticists and obstetricians (Marteau et al, 1994). Abortion, whether necessary or not, affects most mothers, and midwives know this too well (Harman, 2008). Thus, there is a real need for the health practitioner to balance their professional and private values especially in the area of prenatal screening. A variety of ways are employed by the practitioners to manage the interface between their professional and private moral values (Farsides and Willliams, 2004). The practitioners fall into either the “facilitator” or “tolerator” group. Facilitators are comfortable with the prevailing belief existing within their units, while the separation between professional and private values was a struggle in the tolerator group, who try to directly influence the service offered. However, the commitment to non-directiveness silences the debate between professionals, which could result in homogeneous moral views and a lack of critical analyzing abilities among the staff (Farsides and Willliams, 2004). Members of ethic committees have been surveyed to assess their attitudes to several conditions that are subjected to antenatal screening (Reynolds, 2003). Almost all were in favor of screening for the treatment (and not termination) of conditions that are life threatening. It was considered unethical to screen for conditions that indicate a slight increase in premature deaths, or cosmetic features. In the case of Down’s syndrome, describing it as serious increased acceptance of screening, compared to describing the clinical features alone. However, when confirmatory tests are described to increase the rate of spontaneous abortion, most considered screening as unethical even for conditions that were described as serious (Reynolds, 2003). Thus the views of ethicists are affected with the description of the condition or the procedure. In the discussion on the choice for prenatal screening, and termination or non-termination, no mention of the unborn fetus and how it affects the options presented, and choices made by the parents. For different entities and individuals, there are different representations of the fetus (Williams et al, 2001). Most healthcare practitioners consider the fetus is a new person, albeit without rights, since its fate depends entirely on the choices that the parents make. Fetuses also are regarded as commodities, where they have the potential to become babies if the parents so decide. Moreover, in case of sickness in the family, a fetus is considered and tested for its potential to donate tissues or blood, and if the potential is absent, then the option to terminate becomes very real. Different perceptions are also present at the embryo stage, where medical staff regard three-day old embryos as just a ball of cells and have no qualms about their disposal, while others view the embryos as forms of life already (Ehrich et al, 2007). The complexity in the differing views of the fetus underscores the need for sensitivity in practitioners that will allow them to respond to women’s perceptions. Innovations in reproductive medicine could actually shift traditional perceptions to entirely different ones. Antenatal care for the women with fetuses diagnosed with genetic diseases Antenatal care focuses on four perspectives. According to Abbott (2008), the first perspective is on the physiological aspect, which aims to recognize abnormalities and the provision of management and treatment options. Second is the psychological perspective, which should give support for the transition stage into pregnancy, emotional support and empowerment of the women to make their own choices. The sociological perspective of care is important as the parents prepare for parenthood. The economic perspective of care deals with the benefits and entitlements that the woman can avail of while pregnant and after giving birth. In all four perspectives, the midwife provides the support and acts as a partner of the woman in assessing maternal and fetal health, providing emotional support and information to allow for make informed decisions (Abbott, 2008). Nevertheless, obstetric care was found to be significantly inadequate for women whose pregnancies have been diagnosed to have fetal abnormalities (Chitty et al, 1996). In most cases, the staff was not aware of the negative outcomes of antenatal tests of these women, and tended to mix them with others who have normal pregnancies. This is mentally difficult for the women who have chosen to either terminate their pregnancies or deliver the genetically defective baby. Thus, they suffered from having to answer questions on the health of their pregnancies from unsuspecting individuals. The study also showed that parents who are prepared for the outcome of the pregnancy found it easier to come to terms with the genetic condition of their unborn child (Chitty et al, 1996). Special antenatal arrangements benefitted the women; in these cases, special mention of the compassion and sensitivity of the midwifery staff was noted. The midwives were appreciated for constantly communicating and giving consideration to the feelings of the patients (Abbott, 2008). There was quality communication among the healthcare professionals, and the couple and staff. Sensitivity to the feelings of the couple was shown during the antenatal period up to up to delivery of the baby. Some babies die after birth, and couples resented the practice of bringing the baby immediately to special care. Considering that there is so little hope, the mother would like to spend some time with the baby. For mothers who continued the pregnancy despite the diagnosis of a diseased child, the act reduced the feelings of guilt, remorse and doubt (Chitty et al, 1996). Chitty and co-workers (1996) also gave important recommendations for consideration for antenatal care of a mother carrying a baby with genetic defect. According to them, initial distress can be minimized when parents are personally given the news of the test outcome in a private setting. Secondly, special antenatal care should be provided, possibly by trained antenatal midwives who can also act as counselors. Whenever necessary, antenatal parents should be separated from postnatal mothers who have healthy babies. Moreover, the researchers also emphasized the importance of training programs on genetic counseling and antenatal care for all concerned medical practitioners. Conclusion Expanded reproductive genetic testing from the 1990s onwards has given a new perspective to child-bearing. These new tests open up areas in informed choice and genetic counseling as more and more diseases are detected in the developing fetus. The ethical debate of even considering genetic testing is ongoing, much more on the area of pregnancy termination if a genetic abnormality is diagnosed. At the center of all these controversy are the mother, the unborn child and the medical practitioners whose main concerns are to take care of the mother and child in the best way possible. The healthcare specialists also have to act as counselors, but the way in which the counseling is given must be objective and non-directive. Many issues surround antenatal genetic testing, but more than anything else, it is the mother who must always be the major consideration. 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Zuckerman, S. et al (2008). Attitudes of couples identified through screening as carriers of Gaucher disease type 1. Clinical Genetics, 74(6), 566-70. Read More