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Reproductive Diseases and Disorders

Abstract

This exemplar focuses on analyzing reproductive diseases and disorders and on determining the benefits of using assisted reproductive technology like in vitro fertilization (IVF) and preimplantation genetic screening or diagnosis (PGS/PGD). The particular case that is discussed in this exemplar is associated with a reproductive disorder known as recurrent miscarriage or recurrent early pregnancy loss. The purpose of this exemplar is to present the disease history and pathophysiology, to focus on the personal experience of the patients, to describe the treatment approaches, to analyze collaborative interventions, and to associate the disease development with the relevant concepts in the sphere of reproduction. The statements and conclusions regarding the disease process and treatment modalities will be supported with the evidence from recent studies and research in the field.

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Introduction

This exemplar focuses on analyzing reproductive diseases and disorders and on determining the benefits of using assisted reproductive technology like in vitro fertilization (IVF) and preimplantation genetic screening or diagnosis (PGS/PGD). The particular case that is discussed in this exemplar is associated with a reproductive disorder known as recurrent miscarriage or recurrent early pregnancy loss. The purpose of this exemplar is to present the disease history and pathophysiology, to focus on the personal experience of the patients, to describe the treatment approaches, to analyze collaborative interventions, and to associate the disease development with the relevant concepts in the sphere of reproduction. The statements and conclusions regarding the disease process and treatment modalities will be supported with the evidence from recent studies and research in the field.

Recurrent Miscarriage: Definition and Treatment

A recurrent miscarriage is a reproductive disorder or condition that is characterized by two and more miscarriages or pregnancy losses. A recurrent miscarriage means that a woman has problems with gestation, but she cannot be discussed as having infertility in most cases (American Society for Reproductive Medicine, 2012, p. 1104). The causes of two and more recurrent miscarriages can be age, environment, genetic factors, endocrine factors, and physiological conditions among others (Park, Lee, Jeong, Rho, & Song, 2015).

Clinical Situation

Background and description

A couple of Caucasians came to consult the Fertility Center specialists regarding the problems with the reproduction system. A 37-year-old woman and a 45-year-old man informed professionals that their two previous attempts to conceive resulted in early pregnancy losses. The first miscarriage was observed after 10 weeks of gestation, and the second miscarriage was after 5 weeks of gestation. The latter miscarriage was 7 months ago, and now the couple was ready to try conceiving again. The conversation with the couple revealed the fact that they were ready not only to conduct all the necessary testing and examination in order to find the causes of the problem but also to use such a reproductive technology as IVF to avoid and predict further miscarriages.

A couple was hospitalized for further extensive examination and testing, and the physicians and gynecologists chose to postpone deciding on the use of the IVF till all the tests results were received. I worked to support the couple psychologically and assisted physicians in collecting the data for further examination and testing. I also analyzed the medical history of patients. It was decided to conduct fertility investigations along with complex blood tests. This complex approach is discussed as a necessary measure to determine the cause of the reproductive disorder (Tan, Yin, Zhang, Jiang, & Tan, 2014, p. 30). I assisted in conducting antenatal screening tests, complex blood tests, hemoglobin tests, and tests on hepatitis B and C. The results of these tests were normal for both males and females. The other group of tests was conducted to determine the possible cause of the pregnancy loss problem. The evidence shows that the typical causes of recurrent miscarriages are environmental and genetic factors, physical diseases, autoimmune diseases, endocrine diseases, and anatomical conditions (Fiorentino, Bono, Biricik, & Nuccitelli, 2014, p. 2802). Therefore, to examine the anatomical factors and determine possible physical diseases, ultrasound testing was conducted additionally. No signs of abnormalities were observed. The next stage included the anti-cardiolipin test, protein S and C tests, glucose and insulin tests, and chromosome (karyotype) tests (DeKrom, Arens, & Coonen, 2015, p. 484). It was found that the woman had a translocation chromosomal condition. The woman was diagnosed to have the translocation typical for pairs of chromosomes in her karyotype. The tests conducted for the man did not reveal any results that could be associated with the miscarriages.

After the detailed examination of the medical history, I have found that in spite of following a healthy lifestyle and absence of severe medical conditions, both the male and the female had distant relatives with different chromosome problems that could be associated with the revealed chromosome problem in the woman (American Society for Reproductive Medicine, 2012). Therefore, specialists in using reproductive technologies and geneticists decided to use the IVF technology for conceiving. They also decided to conduct further genetics tests like PGS/PGD before the IVF procedure. The PGD procedure was selected because it is helpful to predict the clinical outcomes of using the IVF procedure, and it is one of the most widely used approaches for testing embryos (Alijotas-Reig & Garrido-Gimenez, 2013; Brown & Harper, 2012, p. 111). The overall procedure including the IVF, the PGD, and the transferal of the embryo to the woman’s body was completed during 30 days. I assisted the female patient during different stages of the procedure, and the first positive results were observed on day 32 when the tests revealed that the woman was pregnant.

Pathophysiology Process

The female reported that she had two miscarriages observed during the first trimester of the pregnancy. The first pregnancy resulted in a complete miscarriage with intense vaginal bleeding after 10 weeks of gestation. The woman stated that she suffered from dysmenorrhea after the first miscarriage. The second conception was observed in 5 months after the first miscarriage. However, the second miscarriage was confirmed by doctors after 5 weeks of gestation. During the conversation with the female patient, I have found that doctors noted the complete miscarriage associated with the vaginal bleeding in the second case as well as in the first one. The conclusions were made based on the results of ultrasonography. Referring to the pathophysiology, changes in the placentation process were also observed, but specific uterine abnormalities that could cause miscarriages were not found.

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Researchers state that, in more than 50% of cases associated with the miscarriage during the first trimester of pregnancy, the main cause is the chromosome condition (Alijotas-Reig & Garrido-Gimenez, 2013; DeJong, Kaandorp, Goddijn, & Middeldorp, 2014). In both cases, the death of the embryo was observed during the first trimester of the pregnancy. In such cases, physicians usually perform cytogenetic testing and further analysis in order to find out the cause of the recurrent early pregnancy losses (Suzumori & Sugiura-Ogasawara, 2010; Tan et al., 2014). The cytogenetic testing conducted in the described case indicated the translocation as the chromosomal condition that could cause recurrent miscarriages.

Signs and Symptoms

The typical signs and symptoms of recurrent early pregnancy loss are different types of miscarriages (complete, incomplete, or threatened ones) that can be observed two and more times (American Society for Reproductive Medicine, 2012; DeKrom et al., 2015, p. 485). Miscarriages are usually associated with vaginal bleeding, the expulsion of the conception products, and the pain of different characters (Alijotas-Reig & Garrido-Gimenez, 2013, p. 447). The woman said that the vaginal bleeding was unexpected, and the lower abdominal pain was also observed. The woman was hospitalized in both cases, and the actual expulsion of the conception products was associated with the intense bleeding. Doctors performed the ultrasonography testing in order to conclude that the miscarriages were complete in both cases. In spite of the fact that the menstrual cycle of the woman was regular, she complained of dysmenorrhea. However, the actual causes of dysmenorrheal were not determined.

Treatment Modalities

The cytogenetic testing revealed that the female had the chromosomal translocation condition typical for the pairs of chromosomes, and this condition was the main cause of the recurrent miscarriages (American Society for Reproductive Medicine, 2012). The translocation type of the chromosomal disorder was determined in contrast to such types as inversion and mosaicism (Dahdouh, Balayla, Audibert, Wilson, & Audibert, 2015, p. 452). The other important factor was the age of the male and female in the couple because the age over 30 years is discussed as contributing to the increases in risks of miscarriages (Zheng, Jin, Liu, Liu, & Wang, 2015). Such possible causes as uterine abnormalities, infections, thrombophilias, and immunological disorders were excluded by doctors. The professionals referred to the indicated cause while determining the treatment modalities for the concrete case. Specialists of the Fertility Center chose to focus on the main and supportive treatments in order to achieve higher results.

The specific supportive treatment for the couple was proposed during the first consultations after the discussion of the problem of recurrent miscarriages and before conducting the genetic tests. It was proposed to modify the lifestyle, to improve the feeding patterns, to focus on regular physical activities in order to reduce the BMI, to give up smoking and alcohol consumption, and to take progesterone (Lo, Rai, & Hameed, 2012, p. 168). In spite of the fact that these modalities could not influence the main cause of the reproductive disorder, these activities can be discussed as helping to improve the general health status of the male and female planning a child. Therefore, these activities were considered as part of nursing interventions, and I focused on providing the consultation regarding the lifestyle and evaluating the health state of the partners.

The main treatment scenario proposed after the analysis of the genetic test results was associated with the IVF procedure and the PGD procedure. The first step in the IVF procedure was the use of the FSH (follicle-stimulating hormone) (Park, Lee, Jeong, Rho, & Song, 2015, p. 64). This stimulation was important in combination with the progesterone use. As a result, positive conditions for egg development were created. When the eggs had developed, they were retrieved for further PGD in order to detect whether embryos had specific translocations associated with the pairs of chromosomes (Yang, Chang, Chen, & Ma, 2015). The abnormalities associated with aneuploidy were detected with the help of the PGD, and they were observed in 6 embryos out of 8 tested embryos. Two embryos were transferred to the female’s body. The supportive treatment was modified to provide the woman with a lot of rest and comfort. The combination of the IVF procedure with the PGD procedure can be discussed as an effective treatment modality in cases when the cause of recurrent miscarriages is the chromosomal abnormality that needs to be detected additionally, before the embryo is transferred back to the female’s body (American Society for Reproductive Medicine, 2012, p. 1105; Yang, Lin, Zhang, Fong, & Li, 2015). The procedure outcomes were the positive pregnancy test results 32 days after starting the treatment procedure.

Pharmacological Treatment Modalities

The pharmacological treatment of early pregnancy losses depends on the cause of the problem if it was identified. The most commonly used medicines for the treatment of recurrent miscarriages are the low doses of aspirin, prescribed doses of heparin, the low doses of the follicle-stimulating hormone (FSH) for additional stimulation, and the prescribed doses of progesterone (DeJong et al., 2014; Garrido-Gimenez & Alijotas-Reig, 2015). In the reported case, pharmacological therapy was selected as the supportive one. The physician provided arguments for his choice of the medicines for the supportive treatment referring to the evidence-based research (DeJong et al., 2014; Yang et al., 2015). It was noted that low doses of aspirin and prescribed doses of heparin can contribute to the quick recovery of the female organism after the recurrent miscarriages, but they could not help in overcoming the actual cause of the reproductive disorder (DeJong et al., 2014). When a female organism was prepared for the IVF procedure, it was important to stimulate the reproductive processes with the help of low doses of the follicle-stimulating hormone and progesterone. It was found that low doses of these substances are important to balance the concentration of hormones that influence the reproduction in females (Park et al., 2015).

Analysis of Collaborative Interventions

The independent nursing interventions associated with the described disease are the provision of care to the patients, psychological assistance, the direct analysis of the medical history, and indirect counseling (American Society for Reproductive Medicine, 2012; Garrido-Gimenez & Alijotas-Reig, 2015). However, it is also important to focus on the collaborative interventions oriented to diagnosing and treating the couple. The actions that were performed in collaboration with physicians, gynecologists, and geneticists included the performance of the IVF procedure and the PGD procedure. I was responsible for the collection of the data necessary for the analysis, for the provision of the necessary assistance to the patients, for the assistance during the IVF and PGD procedures. I was also ordered to collect, fix, and store the results received when the procedure was completed (Garrido-Gimenez & Alijotas-Reig, 2015). During the 30-day period, I was responsible for providing the care for the female patient to guarantee that the woman could rest in the comfortable environments, and there were no negative environmental conditions that could affect the treatment harmfully (American Society for Reproductive Medicine, 2012; Dahdouh et al., 2015). Collaborating with the physician, I was also responsible for providing the medication for the female patient. Thus, the nursing management of women suffering from recurrent miscarriages is characterized by the focus on psychological and physical comfort.

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The results of the procedures were analyzed by the collaborating team, and the progress of the female patient was evaluated with a focus on the presence or absence of pregnancy. When it was stated that the treatment had preliminary positive results, I was ordered by the physician to continue collecting the data regarding the physical and psychological state of the female patient and regarding the changes in the hormone levels. In cooperation with the laboratory workers, we conducted the progesterone level testing each week during the first months of the patient’s pregnancy. The results of the tests and associated analyses were evaluated in collaboration with the physician and the gynecologist. These measures were necessary to guarantee the positive outcomes of the procedure (Fiorentino et al., 2014; Giddens, 2013).

Concepts Associated with the Disease Process and Population Specific Prevalence

Recurrent miscarriages are discussed among the most typical reproductive disorders that have various causes, including age (30 years and over 30 years), uterine abnormalities, environmental conditions, chromosomal or genetic disorders, infectious diseases, and physical conditions among others (Garrido-Gimenez & Alijotas-Reig, 2015, p. 151). It is also important to note that recurrent miscarriages can be the signs of immunological diseases, autoimmune responses, and symptoms of tissue incompatibility (American Society for Reproductive Medicine, 2012; Giddens, 2013). As a result, before concluding regarding the diagnosis and the cause of the observed miscarriages, it is important to focus on the medical history of the couple and on the presence of chromosomal disorders in relatives (Giddens, 2013). The patients’ experience associated with several miscarriages can also result in stress and psychological misbalance that can cause physical health and the outcomes of further conception attempts.

While focusing on the aspect of the disease prevalence, it is important to state that in the United States, approximately 5% of couples report infertility because of recurrent miscarriages during the first trimester of pregnancy (DeJong et al., 2014, p. 8; Garrido-Gimenez & Alijotas-Reig, 2015, p. 151). Moreover, it is important to pay attention to the fact that the prevalence of chromosome conditions causing pregnancy loss is more than 3.5% in couples where the cases of recurrent miscarriages were observed (American Society for Reproductive Medicine, 2012; Yang et al., 2015, p. 30). Therefore, the disease process is associated with a range of factors that can be determined or not by physicians during the testing procedures. In this context, much attention should be paid to blood testing, hormone testing, and to cytogenetic analysis along with ultrasound testing in order to find the cause of the reproductive disorder and exclude the factors that are not connected with the case.

Conclusion

It is rather difficult to diagnose reproductive disorders effectively with a focus on their causes and pathophysiology processes. Therefore, the collaborating specialists from the field of nursing care, gynecology, obstetrics, and genetics were invited to work with the couple that reported two recurrent miscarriages and desired to use the IVF procedure for the conception. The results of the genetic tests demonstrated that the woman had a chromosomal disorder that could affect the success of previous pregnancies. As a consequence, the couple was proposed such treatment modality as the IVF procedure combined with the PGD procedure in order to prevent the development of the determined chromosomal disorder in the embryo. It is important to note that the choice of the PGD procedure was rather effective because possibilities for failure and risks were significantly reduced. The disorder was addressed with the effect of selected assisted reproductive technology, and the couple received an opportunity to become parents.

References

Alijotas-Reig, J., & Garrido-Gimenez, C. (2013). Current concepts and new trends in the diagnosis and management of recurrent miscarriage. Obstetrical & Gynecological Survey, 68(6), 445-466.

American Society for Reproductive Medicine. (2012). Evaluation and treatment of recurrent pregnancy loss: A committee opinion. Fertility and Sterility, 98(5), 1103-1110.

Brown, R., & Harper, J. (2012). The clinical benefit and safety of current and future assisted reproductive technology. Reproductive BioMedicine, 25(1), 108-117.

Dahdouh, E., Balayla, J., Audibert, E., Wilson, R., & Audibert, F. (2015). Technical update: Preimplantation genetic diagnosis and screening. Journal of Obstetrics and Gynecology, 37(5), 451-463.

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DeJong, P., Kaandorp, S., Goddijn, M., & Middeldorp, S. (2014). Aspirin and/or heparin for women with unexplained recurrent miscarriage with or without inherited thrombophilia. The Cochrane Database of Systematic Reviews, 4(1), 7-16.

DeKrom, G., Arens, Y., & Coonen, E. (2015). Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD. Human Reproduction, 30(2), 484-489.

Fiorentino, F., Bono, S., Biricik, A., & Nuccitelli, A. (2014). Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles. Human Reproduction, 29(12), 2802-2813.

Garrido-Gimenez, C., & Alijotas-Reig, J. (2015). Recurrent miscarriage: Causes, evaluation and management. Postgraduate Medical Journal, 91(1073), 151-162.

Giddens, J. F. (2013). Concepts for nursing practice. St. Louis, MO: Elsevier.

Lo, W., Rai, R., & Hameed, A. (2012). The effect of body mass index on the outcome of pregnancy in women with recurrent miscarriage. Journal of Family and Community Medicine, 19(3), 167-171.

Park, H., Lee, M., Jeong, H., Rho, Y., & Song, S. (2015). Efficacy of corifollitropin alfa followed by recombinant follicle-stimulating hormone in a gonadotropin-releasing hormone antagonist protocol for Korean women undergoing assisted reproduction. Clinical and Experimental Reproductive Medicine, 42(2), 62-66.

Suzumori, N., & Sugiura-Ogasawara, M. (2010). Genetic factors as a cause of miscarriage. Current Medicinal Chemistry, 17(29), 3431-3437.

Tan, Y., Yin, X., Zhang, S., Jiang, H., & Tan, K. (2014). Clinical outcome of preimplantation genetic diagnosis and screening using next-generation sequencing. Gigascience, 3(1), 30-38.

Yang, Y., Chang, S., Chen, H., & Ma, G. (2015). Preimplantation genetic screening of blastocysts by multiplex qPCR followed by fresh embryo transfer: validation and verification. Molecular Cytogenetics, 8(1), 49-56.

Yang, Z., Lin, J., Zhang, J., Fong, W., & Li, P. (2015). Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening: A pilot study. BMC Medical Genomics, 8(1), 30-41.

Zheng, H., Jin, H., Liu, L., Liu, J., & Wang, W. (2015). Application of next-generation sequencing for 24-chromosome aneuploidy screening of human preimplantation embryos. Molecular Cytogenetics, 8(1), 38-45.

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