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A group of nursing students is reviewing information about chromosomal abnormalities. The students demonstrate understanding of this information when they identify what as a common mechanism leading to an abnormal chromosome number? nondisjunction deletion duplication translocation

ANSWER 1 Nondisjunction refers to the failure of separation of the chromosome pair, leading to an abnormal chromosome number. Deletion occurs when a portion of the chromosome is missing, resulting in a loss of that portion, thereby making the chromosomal structure abnormal. Duplication occurs when a portion of the chromosome is duplicated and an extra chromosomal segment is present; thus, the structure is not normal. Translocation occurs when a portion of one chromosome is transferred to another, leading to an abnormal arrangement.

A pregnant client asks the nurse how the fetus breathes if it is floating in the amniotic fluid. The best explanation by the nurse is: the fetus receives oxygen through the umbilical vein. the fetus breathes by exchanging gases in the lungs. the fetus breathes by receiving blood from the maternal circulation. the fetus receives oxygen through the umbilical artery.

ANSWER 1 The fetal lungs are non-functional and are an organ of oxygenation during intrauterine life. There is no gas exchange occurring in the lungs. The fetus receives oxygenated blood through the umbilical vein. The umbilical artery removes carbon dioxide from the fetus. Oxygen from the maternal system diffuses across the placenta, but the maternal circulation is not responsible for fetal breathing.

A couple desires to undergo genetic testing for Huntington disease. The nurse recognizes that this is which type of genetic disorder? X-linked inherited disorder autosomal dominant inherited disorder autosomal recessive inherited disorder X-linked dominant inherited disorder

ANSWER 2 Autosomal dominant inherited disorders occur when a single gene in the heterozygous state is capable of producing the phenotype. Huntington's is a type of this genetic disorder.

A woman is to undergo quad screening testing. The nurse would anticipate that this test would be done at which time? 12 weeks' gestation 16 weeks' gestation 20 weeks' gestation 24 weeks' gestation

ANSWER 2 Typically, a triple or quad screening test would be done between 15 and 18 weeks' gestation.

The nurse is reviewing prenatal charts in the clinic and notes some clients report infections during their pregnancies. Which maternal infection(s) places the fetus at high risk for developmental abnormalities? Select all that apply. urinary tract infections rubella sinus infections varicella Zika virus

ANSWER 2-4-5 The Zika virus, varicella, and rubella are known as infectious teratogens. A urinary tract infection and a sinus infection would likely not alone cause fetal abnormalities.

A community health nurse is visiting a 16-year-old new mother. The nurse explains to the client and her mother the genetic screening that is required by the state's law. The client asks why it is important to have the testing done on the infant. What is the nurse's best response? "Genetic testing is a way to determine the rate of infectious disease." "It is important to test newborns for PKU, congenital hypothyroidism, and galactosemia." "PKU, congenital hypothyroidism, and galactosemia are conditions that could result in disability or death if untreated." "This testing is required and you will not be able to refuse it. It usually is free so there is no reason to refuse it."

ANSWER 3 The first aim is to improve management, that is, identify people with treatable genetic conditions that could prove dangerous to their health if left untreated. The other answers are incorrect because genetic testing does not determine the rate of infectious disease. The other answers do not adequately explain the rationale for newborn testing.

A female client has the Huntington's disease gene. She and her husband want to have a child but are apprehensive about possibly transmitting the disease to their newborn child. They have strong views against abortion (elective termination of pregnancy). They would also like to have their "own" child and would consider adopting only as a last resort. Which action would be most appropriate in this situation? undergoing prenatal diagnosis with prenatal choice of continuing pregnancy using donor gametes for conception of a child opting for a preimplantation genetic diagnosis chancing the conception and birth of a child

ANSWER 3 The most appropriate choice would be opting for a preimplantation genetic diagnosis (PGD). A PGD is a genetic evaluation of the embryo created through IVF which will reveal whether the Huntington's disease gene is present in the embryo. Undergoing prenatal diagnosis with prenatal choice of continuing pregnancy is not an option because the client and her husband are against abortion (elective termination of pregnancy). Chancing the conception and birth of a child involves the risk of passing the gene to the newborn child. Using donor gametes may reduce the risk, but it is against the client's preferences.

A woman at 15 weeks' gestation asks the nurse what the fetus currently looks like at this stage of the pregnancy. Which response by the nurse would be most accurate? The fetus is covered with a white, greasy film called vernix. The fetus is about 15 in (38 cm) in length. Fingernails are present. Rhythmic breathing movements are occurring.

ANSWER 3 Vernix caseosa, a white, greasy film, covers the fetus at weeks 17 through 20. The fetus reaches a length of approximately 15 in (38 cm) by weeks 25 to 28. Fingernails and toenails are present by approximately week 13 through 16. Rhythmic breathing movements occur between weeks 29

The nurse is preparing a pregnant client with severe hypertension for an emergent amniocentesis for possible early delivery of the fetus. The nurse will explain to the client that the health care provider is evaluating which parameter? fetal renal output fetal alimentary output maternal blood makeup level of fetal surfactants

ANSWER 4 Amniocentesis is done to check the lung surfactant ratio of the fetus, which will determine if the lungs are matured enough for delivery. Amniocentesis can be used to determine fetal renal and alimentary output, but these factors are not critical to birth. Maternal blood work will reveal information about the mother and not the lung maturity of the fetus.

A 47-year-old woman with osteoarthritis and hypertension is diagnosed with breast cancer. She tells the nurse that her mother also suffered from osteoarthritis and hypertension and she developed breast cancer at the age of 51 years. The nurse explains that this could be a result of: X-linked inheritance. autosomal recessive inheritance. autosomal dominant inheritance. multifactorial inheritance.

ANSWER 4 Many birth defects and common health conditions such as heart disease, high blood pressure, cancer, osteoarthritis, and diabetes occur as a result of interactions of multiple gene mutations and environmental influences. Thus, they are called multifactorial or complex conditions. The other answers are incorrect because X-linked conditions, autosomal recessive conditions, and autosomal dominant conditions are not caused by the interactions of multiple gene mutations and environmental influences.


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