Pathophysiology ch 6
Terms in this set (71)
The nurse teaches the patient that ultrasonography will be used during prenatal testing to identify what type of abnormalities?
Skeletal and structural
Explanation: Ultrasonography is the primary method for assessing fetal size and screen for structural abnormalities that include the heart, skeleton, face, diaphragm, and gastrointestinal tract. Cytogenic studies and chromosomal analysis require amniocentesis, chorionic villus sampling, or umbilical cord blood. ?-Fetoprotein (AFP) requires a maternal blood sample that is analyzed for serum markers associated with neural tube defects.
Which of the following practitioners is most likely to be of immediate assistance in the first 24 hours following delivery of an infant with a cleft lip?
Explanation: Infants with a cleft lip typically have difficulty with feeding, and the assistance of a lactation consultant may be of help in establishing feeding patterns. Oxygenation is not a typical problem, while activities of daily living and assistive devices are not relevant considerations. While social work is often of assistance when a child is born with a congenital condition, a cleft lip has fewer implications than most other inherited disorders.
The most critical time for teratogenic influence in embryonic development is which one of the following?
From day 15 to day 60 after conception
Explanation: The embryo's development is most easily disturbed during the period when differentiation and development of the organs are taking place. This time interval, which is often referred to as the period of organogenesis, extends from day 15 to day 60 after conception.
The nurse is studying genetic disorders. She learns that an allele is which of the following?
One of two members of a gene pair, for a particular trait, in a chromosome pair
Explanation: The two members of a gene pair, one inherited from the mother and the other from the father, are called alleles. The presence of more than two chromosomes to a set is called polysomy. The physical trait associated with a particular gene is the phenotype.
Which of the following is true about recessive gene inheritance?
A carrier is a non-affected person with a single copy of a recessive gene
Explanation: Autosomal recessive disorders are manifested only when both members of the gene pair are affected. So, a carrier is a non-affected person with a single copy of a recessive gene. Dominant genes have greater expression than recessive ones. Because of the presence of a normal X gene, female heterozygotes rarely experience the effects of a defective gene, whereas all males who receive the gene are typically affected. Variability of gene expression is called variable expressivity.
The nurse is studying numeric disorders involving autosomes. Which of the following terms refers to having an abnormal number of chromosomes?
Explanation: Having an abnormal number of chromosomes is referred to as aneuploidy. When a person inherits a dominant mutant gene, but fails to express it, the trait is described as having reduced penetrance. In mitochondrial gene disorders, some cells receive a mixture of normal and mutant DNA, known as heteroplasmy. Occasionally, mitotic errors in early development give rise to two or more cell lines characterized by distinctive karotypes, a condition referred to as mosaicism.
When the mother of an adolescent with Turner syndrome asks the nurse why the physician is prescribing estrogen therapy, the nurse tells the mother which of the following?
To promote secondary sex characteristics
Explanation: Estrogen therapy is initiated in adolescents to girls with Turner syndrome to promote the development of secondary sex characteristics.
The nurse explains to prospective parents that AA or aa in a punnett square represent two alleles of a given pair are the same or
Explanation: When two alleles of a given pair are the same as in AA or aa, they are considered homozygotes.
A child has been diagnosed with NF-1. The nurse should assess the child for which clinical manifestations? Select all that apply.
Attention deficit disorder
Explanation: Children with NF-1 are also susceptible to neurologic complications. There is an increased incidence of learning disabilities, attention deficit disorders, and abnormalities of speech. Complex partial and generalized tonic-clonic seizures are a frequent complication. NF-1 is also associated with increased incidence of other neurogenic tumors, including meningiomas, optic gliomas, and pheochromocytomas.
A nurse confers with the attending physician about a client with encephalopathy that has been attributed to mitochondrial gene mutation. Why do mutations of the mitochondria affect the brain?
Mitochondrial mutations affect the ability of tissues to synthesize ATP, and tissues with high demands malfunction without enough ATP.
Explanation: Tissues that have a high demand for the energy provided by ATP malfunction very quickly when ATP cannot be produced fast enough. This includes the brain, the muscular system, the auditory system, and the retina. Mitochondria cannot be silenced by the cell. Mitochondrial proteins and mutations can affect the cell where they reside but not the entire organ.
A mother who has one mutant allele on the X chromosome and one normal allele asks the nurse what the percentage is of passing it on to a daughter to be a carrier. The best response would be:
Explanation: The common pattern of inheritance is one in which an unaffected mother carries one normal and one mutant allele on the X chromosome. This means that she has a 50% chance of transmitting the defective gene to her sons, and her daughters have a 50% change of being carrier of the mutant gene.
Select the woman who is most at risk of having a child with Down syndrome.
Select the woman who is most at risk of having a child with Down syndrome.
Explanation: The risk of having a child with Down syndrome increases with maternal age. It begins to rise sharply at about age 30, reaching 1 in 25 births at 45 years of age.
The genetic counselor is explaining structural changes in chromosomes that result from breakage and rearrangement of chromosome parts. The pattern that occurs when there are simultaneous breaks in two chromosomes, from different pairs, with exchange of chromosome parts is which of the following?
Explanation: Translocation occurs when there are simultaneous breaks in two chromosomes, from different pairs, with exchange of chromosome parts. Isochromosome formation occurs when the centromere, or central portion, of the chromosome, separates horizontally instead of vertically. Ring formation results when deletion is followed by uniting of the chromatids to form a ring. Inversion requires two breaks on a single chromosome with inversion to the opposite side of the centromere or with the fragment inverting but remaining on the same arm.
The criteria for fetal alcohol syndrome diagnosis require the documented presence of all of the following except which one?
An absence of all or part of the X chromosome
Explanation: An absence of all or part of the X chromosome is seen in Turner syndrome. The other options are criteria for fetal alcohol syndrome diagnosis.
Which of the following diseases is caused by a genetic defect of chloride transport?
Explanation: Cystic fibrosis is a single-gene inheritance disorder of membrane transport of chloride ions in exocrine glands causing lung and pancreatic disease. The other options are also single-gene inheritance disorders but do not involve chloride transport.
Marfan syndrome, which is a connective tissue disorder, affects several organ systems. The most life-threatening aspects of the disorder are caused by defects in which of the following systems?
Explanation: Marfan syndrome affects several organ systems, including the cardiovascular, skeletal and ocular systems. The most life-threatening aspects of the disorder are the cardiovascular defects, which include mitral valve prolapse, progressive dilation of the aortic valve ring and weakness of the aorta and other arteries.
The tissue that is damaged in Huntington chorea is which of the following?
Explanation: Huntington chorea is a neurodegenerative disorder. It does not involve the other types of tissue.
The nurse is preparing to administer a pregnant patient's medication when it is noted that the patient is prescribed tetracycline for an infection. The nurse should do which of the following?
Contact the physician
Explanation: The nurse should contact the physician and request a different antibiotic as tetracylcine is a known teratogenic agent.
Teratogenic substances cause abnormalities during embryonic and fetal development. These substances have been divided into three classes. These classes are called what?
Radiation, drugs and chemical substances, and infectious agents
Explanation: Teratogenic agents have been divided into three groups: radiation, drugs and chemical substances, and infectious agents. The period of organogenesis, the third trimester, and the second trimester are not teratogenic substances. They are time periods during the pregnancy. Teratogenic substances are not classified as outside, inside, or internal. Although drugs and chemical substances are a class of teratogenic agents, smoking is included in that class as a teratogenic agent. It is not a class unto itself. Bacteria and virus are considered infectious agents and are therefore teratogenic agents.
A couple who are pregnant with their first child have made an appointment with a clinical geneticist to discuss prenatal screening. The man states that they "just want to make sure that there is nothing wrong with our baby." How could the clinician best respond to this statement?
"Testing the umbilical blood and performing amniocentesis can give us some information but not a guarantee."
Explanation: Prenatal screening provides a useful but incomplete picture of fetal health; umbilical sampling and amniocentesis are common methods of screening. Fetal-tissue biopsy is a rarely used screening method, and a couple need not belong to a high-risk group to benefit from prenatal screening. Abnormalities do not usually necessitate termination.
Select the screening procedure performed on newborns to decrease the risk of intellectual disability and compromised neurological development.
Serum phenylalanine test
Explanation: Newborn infants are routinely screened within 12 hours of birth for abnormal levels of serum phenylalanine to detect high levels that could cause irreversible intellectual disability. The other procedures that may be performed after birth would not be used as a screening tool for intellectual disability.
After studying genetic disorders, the pathophysiology student knows that which of the following is true?
Genotype determines phenotype
Explanation: The genetic compostion of a person is called a genotype, whereas the phenotype is the observable expression of a genotype. Diabetes mellitus is caused by a multifactorial inheritance disorder and sickle cell anemia by a single gene defect. Many diseases caused by a single-gene defect have been identified.
Which of the following medications are teratogenic agents? Select all that apply.
Explanation: Vitamin A and its derivatives (the retinoids) have been targeted for concern because of their teratogenic potential. Concern over the teratogenic effects of vitamin A derivatives arose with the introduction of the acne drug isotretinoin (Accutane). Tetracycline can interfere with the mineralization phase of tooth development. Methotrexate is also a teratogenic medication. Aspirin and metoprolol are not teratogenic.
The nurse is providing education to the parent of a male diagnosed with Marfan syndrome. The nurse knows that her teaching has been effective when the parent states which of the following?
"His participation in sports may need to be limited."
Explanation: Marfan syndrome affects several organ systems, including the eyes, cardiovascular and skeletal systems. The risks associated with participation in sports depend on which organ system is involved. There is no cure for Marfan syndrome and the most life-threatening aspects of the disorder are the cardiovascular defects.
While examining a patient, the practitioner notices large, flat, cutaneous pigmentations. They are a uniform light brown with sharply demarcated edges. He uses a Wood lamp to better detect the lighter spots. The practitioner knows that the pigmentations may be a component of which disorder?
Von Recklinghausen disease
Explanation: A second major component of type 1 neurofibromatosis, or von Recklinghausen disease, is the presence of large, flat cutaneous pigmentations known as cafe' au lait spots. A Wood lamp, which uses ultraviolet light, can be used to detect lighter spots. The other options are chromosomal disorders and do not exhibit these pigmentations.
The provider receives fetal karotype results on one of his patients. The karotype describes an absence of all or part of the X chromosome. Which condition does the fetus exhibit?
With increasing age, there is a greater chance of a woman having been exposed to damaging environmental agents such as drugs, chemicals, and radiation. These factors may act on the aging oocyte to cause what in a fetus?
Explanation: The risk of having a child with Down syndrome increases with maternal age—it is 1 in 1250 at 25 years of age, 1 in 400 at 35 years, and 1 in 100 at 45 years of age. The reason for the correlation between maternal age and nondisjunction is unknown, but is thought to reflect some aspect of aging of the oocyte. Although males continue to produce sperm throughout their reproductive life, females are born with all the oocytes they ever will have. These oocytes may change as a result of the aging process. With increasing age, there is a greater chance of a woman having been exposed to damaging environmental agents such as drugs, chemicals, and radiation. There is no correlation with maternal age and the other syndromes.
A client goes to radiology for a series of x-rays. As the lead apron is placed over the client, he asks why it is needed. The client should be told that the vest is to protect:
against chromosomal breakage.
Explanation: X-rays have been shown to cause chromosomal breakage and lead to rearrangement and mutation; they do not directly affect the cytoplasm. Proteins and lipids may be altered by X-rays, but they are quickly degraded and removed and therefore have no effect.
A nurse practitioner (NP) is assessing a client who wishes to become pregnant. What assessment finding represents the most significant risk for Down syndrome?
The client is 43 years old and has been pregnant 4 times.
Explanation: Age is among the most significant risk factors for the development of Down syndrome. Previous pregnancies, abortions, smoking and occupational hazards are not noted to be major risk factors in the etiology of Down syndrome.
A young man has been diagnosed with Huntington disease following several months of progressive muscle weakness. The man has two young children: one boy and one girl. The nurse should teach the man that:
each child has 50% chance of developing Huntington disease.
Explanation: In a single-gene autosomal dominant disease such as Huntington, the affected parent has a 50% chance of transmitting the disorder to each offspring. Sex-linked differences do not exist.
Which term is used to describe the process when a child receives two members of a gene pair, one inherited from the mother and the other from the father?
Explanation: Two members of a gene pair, one inherited from the mother and the other from the father, are called alleles. The genes on each chromosome are arranged in pairs and in strict order, with each gene occupying a specific location or locus. Genotype is the genetic makeup, as distinguished from the physical appearance, of an organism or a group of organisms. Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product.
A sonogram on a woman in the first trimester of her pregnancy shows abnormal fetal findings. The nurse prepares to provide the woman with information concerning which diagnosticis procedure?
Explanation: The amniocentesis is useful in women with elevated risk on first trimester screen or quad screen; abnormal fetal findings on sonogram; or in parents who are carriers or with a strong family history of an inherited disease. Chorionic villus sampling is an invasive diagnostic procedure that obtains tissue that can be used for fetal chromosome studies, DNA analysis and biochemical studies. Percutaneous umbilical cord blood sampling (PUBS) is used for prenatal diagnosis of hemoglobinopathies, coagulation disorders, metabolic and cytogenetic disorders, and immunodeficiencies. Biochemical analyses can be used to detect abnormal levels of AFP and abnormal biochemical products in the maternal blood and in specimens of amniotic fluid and fetal blood.
A physician is working with a 30 year old male client with Down syndrome who has been admitted to hospital with a diagnosis of acute leukemia. Which of the following physical assessment finding would the physician be more likely to find in an examination of this client than other clients without Down syndrome?
Congenital heart defects
Explanation: Congenital heart defects are associated with Down syndrome. Hepatomegaly, visual disturbances, and diabetes are not associated.
The nurse knows that her orientee needs to study more when the orientee tells her that which of the following is a congenital defect that arises through multifactorial inheritance?
Cafe au lait spots
Explanation: Congenital disorders that are thought to arise through multifactorial inheritance include cleft lip or palate, clubfoot, congenital dislocation of the hip, congenital heart disease, pyloric stenosis, and urinary tract malformations (hypospadias). Cafe au lait spots are seen in neurofibromatosis type 1, which is a single-gene autosomal dominant disorder.
The nurse teaches the pregnant radiation technologist that excessive levels of radiation have been shown to cause which of the following? Select all that apply.
Explanation: Heavy doses of ionizing radiation are teratogenic and mutagenic and have the capacity to effect inheritable changes in genetic material. Specifically, excessive levels of radiation have been shown to cause microcephaly, skeletal malformations, and intellectual disability. The other options are single-gene inheritance disorders.
After attending a preconception workshop, a young woman asks the educator to explain neural tube defects (NTD). Which of the following are examples of neural tube defects?
Explanation: Folic acid deficiency has been implicated in the development of neural tube defects (e.g. anencephaly, spina bifida, encephalocele). Cleft palate and heart defects are not associated with neural tube defects.
Hearing impairment, blindness and adverse neurodevelopment in newborns can be prevented by vaccination against which of the following?
Explanation: Although the introduction of the rubella vaccine has virtually eliminated the congenital rubella syndrome in most developed countries, it remains endemic in many developing countries, where it is the major preventable cause of hearing impairment, blindness and adverse neurodevelopmental outcome. The other options are infectious agents implicated in fetal anomalies, but do not have vaccines.
An adolescent presents at the clinic with reports of pedunculated lesions projecting from the skin on the trunk area. The nurse knows that this is a sign of what?
Explanation: In more than 90% of persons with neurofibromatosis-1, cutaneous and subcutaneous neurofibromas develop in late childhood or adolescence. The cutaneous neurofibromas, which vary in number from a few to many hundreds, manifest as soft, pedunculated lesions that project from the skin. Marfan syndrome affects several organ systems, including the ocular system (eyes), the cardiovascular system (heart and blood vessels), and the skeletal system (bones and joints). Down syndrome is a congenital condition characterized by varying degrees of intellectual disability and multiple defects. Klinefelter syndrome is a condition that occurs in men who have an extra X chromosome in most of their cells. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility.
Although multifactorial traits cannot be predicted with the same degree of accuracy as the mendelian single-gene mutations, which characteristic patterns exist in this disorder? (Select all that apply.)
Involvement of a single organ or tissue derived from the same embryonic developmental field.
The risk of recurrence in future pregnancies is for the same or a similar defect.
The risk increases with increasing incidence of the defect among relatives.
Explanation: First, multifactorial congenital malformations tend to involve a single organ or tissue derived from the same embryonic developmental field. Second, the risk of recurrence in future pregnancies is for the same or a similar defect. This means that parents of a child with a cleft palate defect have an increased risk of having another child with a cleft palate, but not with spina bifida. Third, the increased risk (compared with the general population) among first-degree relatives of the affected person is 2% to 7%, and among second-degree relatives, it is approximately half that amount. The risk increases with increasing incidence of the defect among relatives. Disorders of multifactorial inheritance can be expressed during fetal life and be present at birth, or they may be expressed later in life.
A pregnant woman's ultrasound reveals intrauterine growth retardation (IUGR) and a TORCH agent is thought to be the cause. Which nursing action is appropriate?
Determine whether the client has been immunized against rubella.
Explanation: TORCH stands for toxoplasmosis, other, rubella (i.e., German measles), cytomegalovirus, and herpes. Hepatitis, tetanus, and cholera are not included among lists of TORCH agents.
What should the nurse teach the patient about an autosomal dominant disorder?
It has varied gene penetration and expression.
Explanation: Autosomal dominant disorders are characterized by variable gene penetrance (degree to which the trait is displayed) and expression (differences in how the trait is displayed). Aneuploidy is not a single-gene disorder and does not follow the Mendelian pattern of inheritance. Deficiencies of enzyme synthesis are common in autosomal recessive disorders. X-linked inheritance can be dominant or recessive but it is not autosomal.
A clinician who works on a cardiac care unit of a hospital is providing care for a number of clients. Which client most likely has a genetic disorder arising from inheritance of a single gene?
A tall, thin, myopic, 28-year old woman with mitral valve prolapse
Explanation: This patient exhibits several classic signs of Marfan's syndrome, an autosomal dominant genetic disorder of connective tissue. The other patients show signs of heart disease most likely caused by multiple factors.
As part of her prenatal care, a pregnant woman and her partner are being taught by a community health nurse. Which of the following points about the teratogenic effects of different substances should the nurse include in his teaching?
"Your developing baby is most vulnerable during the first two months of your pregnancy."
Explanation: The period between days 15 and 60 is the most susceptible time during development. Vitamin A, not D, poses a particular risk, and only two to three percent of anomalies are attributable to drug and environmental factors. It is not necessary to categorically avoid medication, but rather to use caution and heed FDA guidelines.
Which of the following conditions follows a Mendelian pattern of recessive inheritance?
Explanation: Tay-Sachs disease is an autosomal recessive disorder of Mendelian or single-gene inheritance. Coronary artery disease is a multifactorial inheritance disorder. Down syndrome is a numeric disorder involving autosomes. Marfan syndrome follows Mendelian inheritance but is autosomal dominant.
Fortification of foods with folic acid has resulted in a significant reduction in the incidence of which of the following?
Neural tube defects
Explanation: Folic acid deficiency has been implicated in the development of neural tube defects. Huntington disease is an autosomal dominant disorder. Turner syndrome is a chromosomal disorder. Cleft lip and palates are multifactorial inheritance disorders.
A newborn has been diagnosed with phenylketonuria (PKU). The nurse teaches the mother about a special diet to restrict phenylalanine intake. When does this diet need to be initiated?
7-10 days of age
Explanation: Dietary treatment of PKU must be started early in neonatal life to prevent brain damage. Infants with elevated phenylalanine levels should begin treatment by 7-10 days of age.
A nurse notes that a patient with neurofibromatosis has eight 2-cm-diameter, flat, cutaneous, light brown spots over the trunk area. The nurse documents these as being which of the following?
Cafe au lait spots
Explanation: The nurse should document the light brown flat cutaneous spots as being cafe au lait spots.
The mother of a child with Turner syndrome asks the nurse what the physician meant when the disease was explained as monosomy of the X chromosome. The nurse explains the syndrome as having which of the following characteristics?
"There is one X chromosome."
Explanation: The nurse should explain that there is one X chromosome instead of the normal two X chromosomes (one from each parent).
Which assessment finding would help support the diagnosis of fetal alcohol syndrome (FAS) in a newborn?
Head circumference below the 10th percentile
Explanation: A head circumference and weight below the 10th percentile are two of the necessary criteria for the diagnosis of FAS. FAS possesses a characteristic set of facial features that includes a thin vermilion border (upper lip), and an elongated, flattened midface and philtrum (i.e., the groove in the middle of the upper lip). Blindness is not necessarily considered a hallmark characteristic of FAS.
Which statements are true concerning percutaneous umbilical cord blood sampling (PUBS)? Select all that apply.
It is an invasive procedure.
It requires ultrasonographic guidance.
It's results are available in 48-72 hours.
It can assist in the diagnosis of fetal coagulation disorders.
Explanation: Percutaneous umbilical cord blood sampling (PUBS) is an invasive diagnostic procedure that is performed under ultrasonographic guidance. It is used for prenatal diagnosis of hemoglobinopathies, coagulation disorders, metabolic and cytogenetic disorders, and immunodeficiencies. Results from cytogenetic studies usually are available within 48 to 72 hours. Because the procedure carries a greater risk of pregnancy loss compared to amniocentesis, it usually is reserved for situations in which rapid cytogenetic analysis is needed.
Genetic testing has revealed that a male infant has been born with an extra X chromosome. What are the most likely implications of this finding for the child?
Is likely to have no manifestations of this chromosomal abnormality
Explanation: An extra X chromosome is associated with Klinefelter syndrome, but a majority of XXY males do not exhibit visible effects of this chromosomal abnormality. For this reason, it has been suggested that the term Klinefelter syndrome be replaced with 47,XXY male.
While taking their daily walk, the nurse is asked by a neighbor what centric fusion (robertsonian) translocation means. They tell you that a family member has been diagnosed with this and is now afraid to have children. Given this diagnosis, what may be potential risks for their offspring?
If chromosome 21 is involved, there is a high risk for producing a child with Down syndrome.
Explanation: In centric fusion or robertsonian translocation, the break occurs near the centromere affecting the short arm in one chromosome (13and 14, or 14 and 21 most commonly). The short fragment is usually lost during subsequent divisions. In this case, the person has only 45 chromosomes, but the amount of genetic material lost is small. Difficulty arises during meiosis. The chief clinical significance arises when the translocation carriers involve chromosome 21 which may produce a child with Down syndrome.
Mendelian inheritance characteristics are most closely associated with which one of the following?
Explanation: Marfan syndrome is an autosomal dominant disorder caused by a mutant allele at a single gene locus and follows Mendelian patterns of inheritance. Congenital heart disease and diabetes mellitus are multifactorial inheritance disorders. Turner syndrome is a chromosomal disorder.
The provider is counseling his patient who has just been diagnosed with adult polycystic kidney disease, an autosomal dominant disorder. Which statement regarding the transmission of genetic disease is accurate?
Healthy or unaffected children are not carriers of the defective gene.
Explanation: Adult polycystic kidney disease is an autosomal dominant disorder. In this disorder, a single mutant allele from an affected parent is transmitted to an offspring regardless of sex. The affected parent has a 50 percent chance of transmitting the disorder to each offspring. The unaffected relative of the parent or unaffected siblings of the offspring do not transmit the disorder.
A nurse caring for a child with type 1 neurofibromatosis notes that the child has pigmented nodules of the iris. Which of the following is the nurse reporting?
Explanation: The nurse should report the pigmented nodules of the iris in a child with type 1 neurofibromatosis as Lisch nodules.
Which of the following is an appropriate intervention by a nurse working with the parents of an infant newly diagnosed with Tay-Sachs disease?
Encourage parents to verbalize fears and feelings.
Explanation: The nurse should encourage the parents to verbalize their feelings and fears related to the infant's diagnosis to promote psychosocial integrity. Tay-Sachs is not curable and the life expectancy of children diagnosed with it is 4-5 years. Teaching the efficacy of a low-protein diet, keeping the infant's head elevated after meals, and/or administering IV antibiotics will not impact the course of the disease
The nurse is assessing a prepubertal male with fragile X syndrome. Assessment findings would include:
Explanation: The most distinctive feature that is present in 90% of prepubertal males with fragile X syndrome is macroorchidism or large testes. Someone with fragile X syndrome typically has a long face with large mandible and large, everted ears. Cleft palate is not associated with fragile X syndrome.
A new older female client at a long term care facility has a diagnosis of type-1 neurofibromatosis. As part of the intake assessment protocol for the facility, the clinical educator is teaching the care staff about the diagnosis. Which of the following statements most accurately conveys an aspect of neurofibromatosis?
"Her diagnosis puts her at higher risk of developing a malignant neoplasm."
Explanation: NF-1 is associated with increased risk of malignant neoplasm. The lesions may be painful to the client and the disease is an autosomal dominant disorder. Photosensitivity is not noted as a complication of type-1 neurofibromatosis.
The nurse is evaluating teaching provided to a parent of a male newborn with a karotype of 47, XXY. Which statement indicates more teaching is needed?
"My child will have normal fertility when he matures."
Explanation: Males with an extra X chromosome have Klinefelter syndrome. Klinefelter syndrome is characterized by a tall stature, and most males have some degree of language impairment. Infertility is common in men with Klinefelter syndrome because of a decreased sperm count. Androgen therapy can be initiated if there is evidence of a testosterone deficit.
A nurse is providing dietary information to a mother of an infant with phenylketonuria. Which of the following foods should the nurse include as foods to avoid? Select all that apply.
Explanation: Infants with phenylketonuria ar treated with a diet that restricts phenylalanine intake, which is found in animal and vegetable proteins as well as aspartame. Foods to avoid include nuts, aspartame, milk, pasta, red meats, fish, chicken, and soybeans.
The health care provider is assessing a 6-month-old infant. The parents state that the child appeared normal at birth, and in the first few months, however, they have seen the following changes in their infant: progressive weakness, muscle flaccidity, and decreased attentiveness. The health care provider suspects:
Explanation: Infants with Tay-Sachs disease appear normal at birth but begin to manifest progressive weakness, muscle flaccidity, and decreased attentiveness at approximately 6 to 10 months of age. This is followed by rapid deterioration of motor and mental function, often with development of generalized seizures. Retinal involvement leads to visual impairment and eventual blindness. The disease is invariably fatal, and death usually occurs before 4 to 5 years of age.
A pregnant client is just completing her first trimester and has opted for a-fetoprotein (AFP) and human chorionic gonadotropin (hCG) testing. The nurse should identify what implication from this client's decision?
The client wishes to know about her fetus' risk of having a trisomy.
Explanation: AFP and hCG testing are most often performed to determine the risks of a trisomy. Multifactorial disorders are not revealed by this form of testing and the nurse should not presume that the client will choose to have an abortion if the results are positive. The use of AFP and hCG testing does not preclude the use of amniocentesis.
Select the most important information to teach a pregnant client about lifestyle changes.
Avoid all alcohol until the baby is born.
Explanation: Unlike other teratogens, the harmful effects of alcohol are not restricted to the sensitive period of early gestation but extend throughout pregnancy. Because of the possible effect on the fetus, it recommended that women abstain from alcohol during pregnancy.
A 6 year old girl with a diagnosis of Marfan syndrome is being assessed at a community health clinic. Which of the following assessment would be the health care professional's lowest priority?
Tests of kidney function.
Explanation: The autosomal dominant disorder of Marfan syndrome is primarily manifested in the ocular, cardiovascular, and skeletal systems. These assessments would take priority over renal assessment.
The nurse working in a pediatric office is scheduled to assess a female adolescent diagnosed with neurofibromatosis (NF) Type 1. During this assessment, the nurse should be assessing the teenager for which clinical manifestations of NF-1? Select all that apply.
Complaints of having a hard time concentrating in school.
Explanation: NF-1children have many problems, often not apparent until puberty. They tend to have large tumors that cause facial disfigurement, skeletal deformities such as scoliosis, and neurologic complications like learning disabilities, attention deficit disorders, and speech abnormalities.
A male child was born with Klinefelter syndrome. As an adolescent, the nurse will assess which clinical manifestations of Klinefelter syndrome? Select all that apply.
Enlarged breast tissue.
Sparse facial and pubic hair.
Tall stature out of proportion.
Explanation: Klinefelter syndrome is characterized by breast enlargement, sparse facial and body hair, small testes, inability to produce sperm. At puberty, testes do not respond to stimulation from gonadotropins and undergo degeneration. This leads to a tall stature with abnormal body proportions. Although the intellect usually is normal, most 47,XXY males have some language impairment.
Which of the following is a cytogenetic disease?
The nurse assessing a patient with Klinefelter syndrome would evaluate which of the following as being expected findings? Select all that apply.
Explanation: The nurse assessing a patient with Klinefelter syndrome would evaluate the findings of gynecomastia and testicular atrophy as expected findings. However, excessive facial hair and decreased cognition would not be considered expected findings.
The embryo is most susceptible to adverse influences during the period from 15 to 60 days after conception. Which term is used to describe this period?
The period of organogenesis
Explanation: The embryo's development is most easily disturbed during the period when differentiation and development of the organs are taking place. This time interval, which is often referred to as the period of organogenesis, extends from day 15 to day 60 after conception. There are no periods of susceptibility, fetal anomalies, or hormonal imbalance.
Genetic counseling and prenatal screening are tools both for the parents of a child with a defect and for those couples who want a child but are at high risk for having a child with a genetic problem. What are the objectives of prenatal screening?
To detect fetal abnormalities and to provide parents with information needed to make an informed choice about having a child with an abnormality
Explanation: The purpose of prenatal screening and diagnosis is not just to detect fetal abnormalities. Rather, it has the following objectives: to provide parents with information needed to make an informed choice about having a child with an abnormality; to provide reassurance and reduce anxiety among high-risk groups; and to allow parents at risk for having a child with a specific defect, who might otherwise forgo having a child, to begin a pregnancy with the assurance that knowledge about the presence or absence of the disorder in the fetus can be confirmed by testing. It is not the object of genetic counseling and prenatal screening to provide information on where to terminate a pregnancy if that is what the parents choose to do. Prenatal screening cannot be used to rule out all possible fetal abnormalities. It is limited to determining whether the fetus has (or probably has) designated conditions indicated by late maternal age, family history, or well-defined risk factors.
The nurse is caring for a client who tried to become pregnant but suffered a spontaneous abortion (miscarriage) during her first trimester. What is the most likely etiology of the client's abortion?
The fetus had a chromosomal disorder.
Explanation: Chromosomal abnormalities are thought to cause around half of first-term abortions. For most women, this possibility is a much more likely cause of abortion than radiation or toxins. X-linked disorders are not thought to be a major cause of spontaneous abortion.
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