The physician has ordered chromosomal analysis for a newborn ...

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The physician has ordered chromosomal analysis for a newborn baby. Which test does the nurse realize will most likely be performed with this baby?
 
  1. karyotype
  2. newborn screen
  3. carrier testing
  4. preimplantation genetic diagnosis

Question 2

From genetic testing, a patient learns that a specific medication can help a developing disease process. What does the nurse understand that genetic testing provided for the patient?
 
  1. biological marker
  2. phenotype
  3. genotype
  4. translocation

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Answer to Question 1

Correct Answer: 1

The karyotype provides an analysis of the number and structure of the chromosomes. Newborn screening is performed shortly after birth. It seeks to identify inborn errors of metabolism. Carrier testing is completed on asymptomatic individuals who may be carriers of one copy of a gene alteration that can be transmitted to future children in an autosomal recessive or X-linked pattern of inheritance. Preimplantation genetic testing involves the detection of disease causing gene alterations in human embryos just after in vitro fertilization and before implantation in the uterus.

Answer to Question 2

Correct Answer: 1

Biological markers are easily tracked, stable segments of DNA. Information gained from biological markers will provide information on how subtle differences in humans impact their response to drugs and the environment; thus making medical treatment and pharmacologic management more individualized. The observable, outward expression of an individual's entire physical, biochemical, and physiologic makeup, as determined by their genotype and environmental factors, is referred to as phenotype. The specific sequence of nucleotides is referred to as the individual's genotype. Translocation occurs when a segment of a chromosome transfers or moves and attaches itself to another chromosome.