Genetics

The neonate experiences respiratory distress immediately after birth and is intubated after receiving bag-mask ventilation. The nurse notes copious oral secretions and is unable to pass a nasogastric tube or an orogastric tube. Upon assessment, the nurse notes the child has small eyes, malformed ears, and a micropenis. Which of the following genetic disorders does this neonate most likely have?

The nurse learns that a patient is suspected to have a lysosomal storage disease. The nurse prepares to assist with testing for which disease(s)? Select all that apply.

The nurse is providing genetic counselling to a couple of Ashkenazi Jewish descent, who wish to have a child. For which of the following conditions would the child be at an increased risk?

A 28-year-old female who is 12-weeks pregnant is concerned about her baby having a neural tube defect. Which of the following prenatal tests does the nurse anticipate?

The nurse is reviewing the results of a chromosomal microarray. The results are significant for a chromosomal abnormality in which a single amino acid has been altered. Which of the following terms should the nurse use to describe this abnormality?

The nurse is assigned to care for an infant diagnosed with Down syndrome. The nurse understands that this chromosomal abnormality was most likely caused by which of the following events?

A neonate is born at full term to a mother who did not receive prenatal care. The neonate required moderate resuscitation at birth. Upon assessment, the nurse notes poor muscle tone, a protruding tongue, low nasal bridge, and low-set ears. A loud continuous “machine-like” heart murmur is heard. The patient requires 85% FiO2 to maintain an oxygen saturation above 90%. Which of the following tests is the next best diagnostic step in the management of this patient?

The nurse is educating some prospective parents about Down syndrome. Which of the following characteristics is associated with the highest risk for Down syndrome?

The nurse is assessing an infant and notes epicanthal folds, a low nasal bridge, low-set ears, simian palmar creases, and a protruding tongue. Which of the following results does the nurse most likely expect from the patient’s chromosomal microarray?

A female neonate is born at full term to a mother with late prenatal care. Upon assessment, the nurse notes swelling of the neonate’s feet, a webbed neck, and widely-spaced nipples. Upper extremity pulses are bounding, but lower extremity pulses are barely felt. The nurse anticipates which karyotype result for this neonate?

A 15-year-old patient has been diagnosed with non-mosaic Turner syndrome. The nurse prepares to educate the patient on which medication?

The nurse is assigned to the care of an adolescent patient. On physical assessment, the patient has less than expected muscle tone, slight gynecomastia, and microorchidism. The patient’s karyotype is 47,XXY. Which of the following syndromes does this patient have?

During prenatal testing, a fetus is found to have a 47,XXY karyotype. Which of the following statements by the nurse is most accurate?

The nurse is assisting with prenatal testing in a patient who is 15 weeks pregnant. Amniocentesis reveals the fetus to have fragile X syndrome. Which of the following statements by the nurse to the patient is most accurate?

An 18-year-old male patient presents to the clinic. On physical assessment, the nurse notes the patient is exceptionally tall, has a soft, high-pitched voice, female-like breasts, and minimal male secondary sex characteristics. Additionally, the patient is found to have mild-moderate mental impairment. The nurse anticipates genetic testing will be positive for which of the following conditions?

The nurse is assigned to care for a neonate who is born with a chromosomal abnormality. The nurse is reviewing the cytogenetic location of the chromosomal defect for this patient. The results state the patient has a deletion at 14q21. Which of the following is the correct interpretation of this result?

The nurse is assisting with genetic counseling for a couple in which the mother has a rare autosomal dominant condition, and the father does not have the condition. Which of the following statements by the nurse is most accurate?

The nurse is assisting with genetic counseling for a couple who wishes to have a child. Both individuals have an autosomal dominant condition for which both are heterozygous. With each pregnancy, what is the chance the child will be unaffected by the condition?

The nurse is caring for a child who has been diagnosed with cystic fibrosis, which the nurse knows is an autosomal recessive condition. What are the most likely genotypes of this patient’s healthy parents? C is the healthy allele and c is the disease allele.

The nurse is assisting with genetic counseling for a couple with a history of hemophilia A in their families. Which of the following statements by the nurse is true regarding X-linked diseases like hemophilia A?

The nurse is educating the parents of a child diagnosed with maple syrup urine disease. The nurse asks the parent, “Which nutrient should you avoid giving your child?” Which of the following responses by the parents indicates a need for further teaching?

A child with maple syrup urine disease presents to the emergency department with vomiting, diarrhea, lethargy and seizures for the past two days. Which of the following treatments should be started first for this patient?

A 32-year-old African American male presents with sudden onset severe jaundice and fatigue. A detailed history revealed a recent dietary change of eating fava beans for the first time. The nurse anticipates genetic testing will reveal which of the following conditions?

A young adult patient with phenylketonuria who is taking tyrosine supplements complains of severe headaches. Which of the following responses by the nurse is most appropriate?

A neonate’s newborn screen has tested positive for phenylketonuria. While diagnostic testing is performed, the nurse educates the parents to avoid foods high in which nutrient?

The 40-year-old patient has been diagnosed with early-onset Familial Alzheimer disease (FAD) and asks the nurse how likely it is that her children will have the disorder. Which response by the nurse is appropriate?

Which hospitalized patient requires continuous cardiac monitoring?

At delivery, the neonate is noted to have diffuse purple lesions over the entire body and is taken to the neonatal intensive care unit for further assessment and management. The nurse notes the toes have turned black; pedal pulses are palpable. The nurse anticipates testing will reveal a deficiency in which substance?

The neonate is diagnosed with purpura fulminans. Which order does the nurse anticipate first?

The nurse caring for the child with beta-thalassemia is most concerned about which comorbidity?

The healthcare team is answering questions for a 24-year-old black woman scheduled for a thyroidectomy. She states her mother had the same procedure and has a huge scar that is bigger than the original incision. The nurse understands the mother experienced which type of wound derangement?

Rett syndrome is associated with which condition?

Which patients are at risk for restrictive pulmonary disease? Select all that apply.

The nurse is performing an assessment on the patient with long, thin limbs and fingers who presents for a yearly check-up in no acute distress. The patient is extremely thin and has pectus excavatum. For which assessment finding is the nurse most vigilant in this patient?

The parents of an 18-month-old with cystic fibrosis (CF) are in the office for a well-child visit and ask the nurse about immunization against influenza. Which response from the nurse is correct?

Which statement is true regarding an autosomal recessive disorder?

The nurse is helping to recruit patients for a study about the effectiveness of a new delivery system for somatropin. The nurse filters the records for patients with which conditions? Select all that apply.

The patient with short stature associated with Noonan syndrome is being considered for somatropin injections. The nurse ensures which test is performed before therapy is started? 

The nurse reviews the patient’s chart and notes a positive sickle-turbidity test. Which statement does the nurse make to the patient’s parents?  

The nurse questions which orders for the 12-year-old patient in sickle cell crisis? Select all that apply.

The nurse is caring for a 12-year-old male patient with hemophilia A. Which statement is most likely true? 

The 4-year-old patient with a history of sickle cell disease is brought to the emergency room complaining of severe chest pain and cough. Upon assessment, the nurse notes a respiratory rate of 32, a temperature of 39.1°C, and a heart rate of 128 bpm. Which test results does the nurse anticipate? Select all that apply.

The newborn male child experienced hemorrhage from a circumcision site at 2 days old. Coagulation studies revealed normal prothrombin time and a prolonged activated partial thromboplastin time (aPTT). The von Willebrand factor is found to be 0.5%. Which individuals need to undergo genetic testing?   

The 18-year-old patient in sickle cell crisis has received multiple blood transfusions. During the shift assessment, the nurse notes the patient’s heart rate is 132 bpm, blood pressure is 102/58 mmHg, and the sclera are yellow. Which lab result would be surprising for this patient?  

The nurse is providing discharge education to the parents of the 7-day-old neonate who required a blood transfusion due to blood loss following circumcision. Which instruction is most important?  

The 18-year-old female patient reports menorrhagia, easy bruising, and epistaxis. Her family history is notable for maternal hypertension, a brother with hemophilia A, and a father who died of stroke at age 48. Which question is most important to ask the patient?   

The 3-week-old neonate of the mother who desires to formula feed is noted to have musty urine and excessive vomiting. Which initial intervention is most appropriate?  

The 18-day-old neonate has musty-smelling urine and vomits with almost every feeding. The patient, who was born after an uncomplicated pregnancy and delivery, had a normal newborn screening that was drawn in the hospital after birth. Which action by the nurse is most appropriate?   

The nurse is providing health promotion teaching for the 22-year-old patient with phenylketonuria. Which food, if selected by the patient, prompts the nurse to intervene?  

The nurse notes the 4-day-old infant develops circumoral cyanosis while breastfeeding. Once the seal is broken and the neonate begins to cry, the cyanosis resolves and the child becomes pink. There are no nasal secretions and the neonate’s vitals are normal. Which action by the nurse is most helpful?