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reproductive health genetic disorders nursing study guide

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This document is a study guide for a nursing course on reproductive and sexual health. It covers topics like the definition and theories related to procreation, risk factors for genetic disorders, and common tests for genetic abnormalities. The guide also emphasizes the utilization of the nursing process in preventing genetic alteration and providing care for clients before and during conception.

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STUDY GUIDE SEPTEMBER SUBJECT: NCM103 CARE OF MOTHER,CHILD,ADOLESCENT (WELL CLIENT) TOPICS: REPRODUCTIVE AND SEXUAL HEALTH (PART 1) A.Concept of Unitive and Procreative Health. 1.Definition and theories related to procreation. 2....

STUDY GUIDE SEPTEMBER SUBJECT: NCM103 CARE OF MOTHER,CHILD,ADOLESCENT (WELL CLIENT) TOPICS: REPRODUCTIVE AND SEXUAL HEALTH (PART 1) A.Concept of Unitive and Procreative Health. 1.Definition and theories related to procreation. 2.Risk factors that will lead to genetic disorders. 3.Common test for determination of genetic abnormalities. 4.Utilization of the nursing process in the prevention of genetic alteration and the care of client’s seeking services before and during conception. COURSE:/YEAR BS NURSING-2ND YEAR WEEK:WEEK 2 SCHOOL YEAR 1st SEMESTER/SY2O24-2025 1.OBJECTIVES Understand the basic concepts of reproductive health, including the anatomy and physiology of the reproductive system. Recognize the importance of reproductive health throughout the lifespan. Identify the stages of sexual development from childhood through adulthood. Understand the various methods of contraception and their role in family planning. Explore common reproductive health issues, including menstrual menstrual disorders, fertility challenges, and menopause. Learn how to effectively educate patient’s about reproductive and sexual health. Understand the importance of culturally sensitive communication in discussing reproductive and sexual health. Explore the nurse’s role in advocating for patient’s reproductive and sexual health rights. Understand the legal and ethical issues related to reproductive and sexual health, including patient rights, confidentially, and informed consent. Learn how to conduct a comprehensive reproductive and sexual health assessment. Develop skills in providing care and support for individuals with reproductive and sexual health concerns. The concept of unitive and procreative health. UNITIVE HEALTH- refers to the aspect of human sexuality that fosters intimacy ,love and a deep bond between partners. It emphasizes the relational and emotional connection that is integral to a healthy, committed relationship. In the context of marriage, the unitive aspect underscores the importance of mutual respect, emotional support, and the deepening of the marital bond. This is considered essential for the well-being of both partners, contributing to their psychological and emotional health. PROCREATIVE HEALTH- relates to the aspect of human sexuality that is open to the possibility of creating new life. It encompasses the physical, emotional, and moral dimensions of reproduction. The procreative aspect emphasizes the role of sexuality in the transmission of life and the importance of responsible parenthood. It also includes considerations of reproductive health, fertility, and the ethical issues surrounding conception and birth. Definition and theories related to procreation: Definition-Procreation refers to the act of reproducing or bringing forth offspring. It involves a complex interplay of biological processes, including fertilization, gestation and childbirth. THEORIES RELATED TO PROCREATION: 1.BIOLOGICAL THEORIES: Focus on the physiological aspects of reproduction ,such as genetics, hormonal regulation, and the reproductive system’s anatomy and function. Discuss how natural selection and evolutionary processes influence reproductive behavior. 2.PSYCHOSOCIAL THEORIES: Examine how psychological and social factors influence reproductive choices and behaviors. Theories like Erikson’s psychological stages emphasize the role of identity and intimacy in reproductive decision making. Bandura’s social learning theory suggest that behavior is learned through observation and imitation, which can apply to reproductive behaviors and attitudes toward parenthood. 3.SOCIOCULTURAL THEORIES: Explore how cultural, societal, and familial norms and values shape reproductive behavior. Theories in this category include the role of gender roles, family expectations, and cultural beliefs in influencing decisions about when and how to procreate. 4. ENVIRONMENTAL AND PUBLIC HEALTH THEORIES: Address how environmental factors and public health policies impact reproductive health. Theories in this category might include the impact of access to healthcare ,education, and socioeconomic status on reproductive choices and outcomes. RISK FACTORS LEADING TO GENETIC DISORDERS: 1.ADVANCE PARENTAL AGE: MATERNAL AGE: Women over the age of 35 have a higher risk of having a child with chromosomal abnormalities, such as Down syndrome (trisomy 21) PATERNAL AGE: Men over the age of 40 may have an increased risk of passing on genetic mutations, leading to conditions such as autism or schizophrenia. 2.FAMILY HISTORY OF GENETIC DISORDERS: A family history of genetic conditions, such as cystic fibrosis, sickle cell anemia, or Huntington’s disease,increases the risk of these disorders being passed on to offspring. Consanguinity (marriage between close relatives) can also increase the risk of recessive genetic disorders. 3.ETHNIC BACKGROUND: Certain genetic disorders are more prevalent in specific ethnic groups. TAY-SACHS DISEASE-More common among Ashkenazi Jews. SICKLE CELL DISEASE-More prevalent among individuals of African,..Mediterranean, Middle Eastern, or Indian ancestry. THALASSEMIA- More common in people of Mediterranean, Middle Eastern, or Southeast Asian descent. 4.ENVIRONMENTAL FACTORS: Exposure to certain environmental agents during pregnancy ,such as radiation, chemicals, or drugs, can increase the risk of genetic mutations leading to disorders. For example, teratogens (substances that cause birth defect) can disrupt fetal development. 5.INFECTIONS DURING PREGNANCY: Infections such as rubella, cytomegalovirus, or toxoplasmosis during pregnancy can lead to congenital anomalies, some of which have genetic implications. 6. Maternal Health Conditions: Chronic health conditions in the mother, such as diabetes or obesity, can increase the risk of genetic and congenital disorders in the baby. Poorly controlled diabetes in the mother can lead to neural tube defects or heart defects. 7.LIFESTYLE FACTORS: Lifestyle choices, such as smoking, alcohol consumption, or drug use during pregnancy, can increase the risk of genetic and developmental disorders in the fetus. Nutritional dificiencies, such as a lack of folic acid can lead to neural tube defects like spina bipida. 8.USE OF ASSISTED REPRODUCTIVE TECHNOLOGY (ART) The use of ART, such as in vitro fertilization (IVF) may slightly increase the risk of certain genetic and chromosomal abnormalities. COMMON TESTS FOR DETERMINING GENETIC ABNORMALITIES: 1.AMNIOCENTESIS PROCEDURE: A small amount of amniotic fluid is extracted from the amniotic sac surrounding the fetus using a needle inserted through the mother’s abdomen. PURPOSE: The fluid contains fetal cells that can be analyzed for chromosomal abnormalities, such as Down syndrome (trisomy 21) and genetic conditions like cystic fibrosis or Tay-Sachs disease. Timing: Typically performed between 15 and 20 weeks of gestation. 2.CHORIONIC VILLUS SAMPLING (CVS) PROCEDURE: A sample of cells is taken from the chorionic villi,which arevtiny finger-like projections on the placenta. The sample is obtained either through the cervix or the abdomen. PURPOSE: CVS can detect chromosomal abnormalities and genetic disorders early in pregnancy. TIMING: Typically performed between 10 and 13 weeks of gestation. 4.NON- INVASIVE PRENATAL TESTING (NIPT): PROCEDURE: A blood sample is taken from the mother to analyze cell-free fetal DNA circulating in her bloodstream. PURPOSE:NIPT can screen for certain chromosomal abnormalities, such as trisomy 21 (Down syndrome) trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) TIMING: Can be performed as early as 10 weeks of gestation. 5.QUADRUPLE SCREEN (Quad Screen) PROCEDURE: A blood test that measures four specific substances in the mother’s blood, alpha-fetoprotein (AFP) human chorionic gonadotropin (hCG) estriol, and inhibin A. PURPOSE: The test assesses the risk of certain genetic disorders, such as Down syndrome, trisomy 18,and neural tube defects like spina bifida. TIMING: Typicallyperformed between 15 and 20 weeks of gestation. 6.CARRIER SCREENING: PROCEDURE: Blood or saliva samples are analyzed to determine whether the parents are carriers of specific genetic mutations. PURPOSE:This test helps assess the risk of the parents passing on certain genetic disorders,such as cystic fibrosis,sickle cell anemia,or Tay-Sachs disease. TIMING: Can be performed before or during pregnancy. 7.PERCUTANEOUS UMBILICAL BLOOD SAMPLING (PUBS) or Cordocentesis: PROCEDURE: Blood is taken directly from the fetal umbilical cord. PURPOSE: This test is used to diagnose blood disorders,infections,and certain genetic diseases.It can also be used for fetal transfusions. TIMING: Typically performed after 18 weeks of gestation. The nursing process is emphasized as a systematic method for providing individualized and holistic care to clients. When it comes to preventing genetic alterations and caring for clients seeking services before and during conception, the nursing process is applied through the following steps. 1.ASSESSMENT: Gathering Health and Family History: The nurse collects comprehensive health histories, including any genetic disorders in the family, previous pregnancies, and any chronic conditions the client may have. Assessment includes identifying risk factors such as advanced maternal age, ethnic background, or a family history of genetic conditions. LIFESTYLE AND ENVIRONMENTAL FACTORS: The nurse assesses the client’s lifestyle. including diet, exercise substance use (alcohol tobacco, drugs) and exposure to environmental toxins that could affect genetic health. PSYCHOSOCIAL AND CULTURAL ASSESSMENT: Assessing the client’s understanding of genetic risks, cultural beliefs, and psychological readiness for pregnancy and parenthood. PHYSICAL ASSESSMENT: Conducting a physical examination and necessary diagnostic tests to identify any health issues that could influence pregnancy outcomes. 2.DIAGNOSIS: Identifying Nursing Diagnosis. The nurse formulates nursing diagnoses based on the assessment data. Examples include: Risk for altered family processes related to the potential for genetic disorders. Deficient knowledge related to the need for preconception care and genetic counselling. Anxiety related to the possibility of passing on a genetic disorder to offspring. 3.PLANNING: Developing a Care Plan: The nurse collaborates with the client to develop a plan that addresses, identified risks and promotes healthy behaviors. Planning may include setting goals for genetic counselling, lifestyle modifications, and prenatal care. Educating the client on the importance of early prenatal care and screening for genetic disorders. REFERRALS: Planning also involves referring the client to genetic counselling, reproductive endocrinologists, or other specialists as needed. 4.IMPLEMENTATION: Education and Counselling: Providing education on genetic testing options, the importance of folic acid supplementation, and healthy lifestyle choices. Offering counselling on the implications of genetic disorders and the options available for family planning. Supporting the client in making informed decisions about conception, including the use of assisted reproductive technologies if needed. HEALTH PROMOTION ACTIVITIES: Encouraging regular medical check-ups, maintaning a healthy diet, avoiding teratogens, and managing pre-existing health conditions. Administering vaccinations and ensuring the client is up to date on immunizations, such as rubella, which can prevent certain congenital infections. 5.EVALUATION: Assessing outcomes: The nurse evaluates the effectiveness of the interventions by monitoring the client’s adherence to the care plan and any changes in health status. Evaluating the client’s understanding of genetic risks and the decisions made regarding conception. REVISING THE CARE PLAN: Based on the outcomes, the nurse may revise the care plan to address any unmet goals or emerging needs. 1. Continuously providing support and re-assessment as the client progresses through preconception and pregnancy. APPLICATION IN PRECONCEPTION AND PRENATAL CARE: Preconception Care: Nurses play a crucial role in educating clients about the importance of genetic screening before conception. They also help clients manage health conditions and adopt healthy behaviours to reduce the risk of genetic alterations. PRENATAL CARE: During pregnancy, the nurse continues to monitor the client and the fetus for any signs of genetic disorders. This includes coordinating diagnostic tests, providing emotional support, and ensuring the client understands all available options. THANK YOU FOR LISTENING

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