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Chapter 12 Special Reproductive Concerns: Infertility and Genetics Resource Library Prentice Hall Nursing Medialink DVD-ROM Audio Glossary NCLEX Review Activity: Ovulation Video: Through the Eyes of a Nurse—The First Trimester Companion Website Additional NCLEX Review Case Study: Infertility Care Plan Activity: Infertile Couple Applications: Infertility Testing; In Vitro Fertilization CriticalThinking Learning Objective 1 Identify the components of fertility. Concepts for Lecture 1. The components of fertility that are essential for the female partner include: favorable cervical mucous, clear passage between the cervix and the fallopian tubes, patent fallopian tubes with normal motility, ovulation and the release of the ova, no obstruction between the ovary and the fallopian tube, favorable endometrial environment for implantation, and adequate reproductive hormones. 2. The components of fertility that are essential for the male partner include: normal semen analysis, unobstructed genital tract, normal genital tract secretions, and ejaculated spermatozoa deposited at the cervix. Learning Objective 2 Describe the elements of the preliminary investigation of infertility. Concepts for Lecture 1. Both partners will undergo a thorough history and physical examination as well as several tests to identify cause of infertility. The woman’s ovulatory function and the structure and function of the cervix, uterus, fallopian tubes, and ovaries will be assessed. In the male, a semen analysis for sperm quality, quantity, and motility is the most important assessment. Learning Objective 3 Summarize the indications for the tests and associated treatments, including assisted reproductive technologies, that are done in an infertility work-up. Concepts for Lecture 1. If a woman has ovulatory problems, the diagnostic tests that are most appropriate would be BBT, hormonal assessments (including FSH, LH, progesterone, TSH, and androgen levels), an endometrial biopsy to assess endometrial receptivity, and a transvaginal ultrasound to monitor follicles. Pharmacologic treatment to induce or improve ovulation and donor oocytes would be instituted. If the woman has cervical problems, the diagnostic test that is most appropriate is cervical mucous analysis. This problem would best be treated by therapeutic insemination (THI), in vitro fertilization (IVF) and gamete intrafallopian transfer (GIFT). The woman with problems involving the uterine structures or tubal patency would benefit most from assessment techniques including hysterosalpingography, hysteroscopy, and laparoscopy. The most appropriate treatments may include in vitro fertilization, gamete intrafallopian transfer, donor oocytes, and in vitro fertilization using a gestational carrier. If infertility is related to a semen problem, analysis of the quality and quantity of the semen would be most appropriate, and treatment may include therapeutic insemination, in vitro fertilization, gamete intrafallopian transfer, and micromanipulation techniques. Learning Objective 4 Summarize the physiologic and psychologic effects of infertility. Concepts for Lecture 1. Infertility often taxes a couple’s financial, physical, and emotional resources. Their marriage may be stressed and their relationship affected by the intrusiveness of the testing. They may experience guilt, frustration, anger, or shame. They may experience loss of control, feelings of reduced competency and defectiveness, loss of status and ambiguity as a couple, a sense of social stigma, stress on the marital and sexual relationship, and a strained relationship with healthcare providers. Learning Objective 5 Describe the nurse’s roles as counselor, educator, and advocate during infertility evaluation and treatment. Concepts for Lecture 1. The nurse’s role in caring for couples with infertility is that of a counselor, educator, and advocate. The nurse counsels the couple about treatment options and provides education about the treatment. Additionally, the nurse counsels them to help give them control and negotiate the treatment process. Learning Objective 6 Discuss the indications for preconceptual genetic counseling and prenatal testing. Concepts for Lecture 1. Indications for preconceptual genetic counseling and prenatal testing may include: women age 35 or over, couples with a chromosomal abnormality, a family history of known or suspected Mendelian genetic disorders, couples with a previous child with a chromosomal abnormality, couples in which either partner or a previous child is affected by (or in which both partners are carriers for) a diagnosable metabolic disorder, a family history of birth defects and/or mental retardation, ethnic groups at increased risk for specific disorders, couples with a history of two or more first trimester spontaneous abortions, women with an abnormal MSAFP, and women with a teratogenic risk secondary to an exposure or maternal health condition. Learning Objective 7 Identify the characteristics of autosomal dominant, autosomal recessive, and X-linked (sexlinked) recessive disorders. Concepts for Lecture 1. Multiple generations are affected by autosomal dominant disorders, with affected individuals having a 50% chance of passing on the abnormal gene to each of their children. Males and females are equally affected, and fathers can pass on the abnormal gene to their sons. 2. An individual may have an autosomal recessive disorder passed to them through clinically normal parents who are carriers of the gene. Each carrier has a 25% chance of passing on the abnormal gene to a child. There is a 25% chance with each pregnancy that there will be an affected child. There is a 50% chance that an unaffected child will be a carrier. Males and females are equally affected. Males cannot pass on the abnormal gene in an X-linked recessive disorder because it is carried on the X chromosome. A carrier mother has a 50% chance of passing the abnormal gene to each of her sons who will become affected. She also has a 50% chance of passing the abnormal gene to each of her daughters who will become affected. Affected fathers will pass on the gene to all of their daughters. Learning Objective 8 Compare prenatal and postnatal diagnostic procedures used to determine the presence of genetic disorders. Concepts for Lecture 1. Prenatal diagnostic procedures that may be done to assess the fetus for genetic disorders include: ultrasound at 18 to 20 weeks, amniocentesis, chorionic villus sampling (CVS), and maternal serum AFP (MSAFP). Postnatal diagnostic procedures include: a detailed family history, a thorough physical examination including dermatoglyphic analysis, and laboratory analysis (including chromosome analysis, enzyme assay for inborn errors of metabolism, DNA studies, and antibody titers for infectious teratogens). Learning Objective 9 Explore the emotional impact on a couple undergoing genetic testing or coping with the birth of a baby with a genetic disorder, and explain the nurse’s role in supporting the family undergoing genetic counseling. Concepts for Lecture 1. The emotional impact on a couple undergoing genetic testing involves their decision to have the child affected with a genetic disorder or to abort. If abortion is not an option, couples may not choose to have genetic testing; however, other couples may choose to have the testing in order to prepare themselves for the birth of a child with special needs. The nurse should prepare the family for genetic counseling and act as a resource person and an advocate for the family.