29 Jan b. Heart murmurs

Case Study 60 Down Syndrome

1. What information is provided by G3P2-0-2?

2. Are Apgar scored within normal limits?

3. Which of the following explanations below is accurate and appropriate?

a. Episodes of morning sickness can create a disturbance in maternal metabolism that may interfere with embryonic development

b. Drugs used to treat morning sickness can cause a variety of birth defects.

c. These physical characteristics are highly suggestive of some type of chromosomal abnormality.

d. The phenotypic aberrations are pathognomonic (i.e., diagnostic) for Down syndrome.

4. Although many chromosome abnormalities occur due to abnormal cell division in the sperm or egg, they can also occasionally be inherited. The genetic basis for this baby’s anomalies can usually be determined by:

a. analyzing the chromosomes in the baby’s cells

b. analyzing the chromosomes in the mother’s cells

c. analyzing the chromosomes in the father’s cells

d. quantifying the number and severity of the baby’s physical abnormalities

5. The cause of this infant’s physical characteristics is most likely the result of:

a. non-disjunction during meiosis I in the mother

b. non-disjunction during meiosis II in the mother

c. non-disjunction of the xygote sometime during embryogenesis

d. an inherited translocation involving chromosome 21 from the mother

6. The parents struggle to understand what happened to their baby. “We don’t smoke, drink, or take drugs, so why did this happen?” the mother asks. Which of the following represents the most accurate explanation?

a. Down Syndrome is a genetically inherited disorder that is caused when both parents are carriers of a mutated gene.

b. Down Syndrome is a genetically inherited disorder that may be caused when only one parent is a carrier of a mutated gene.

c. The risk for Down Syndrome increases when the mother is older than age 35 and the egg is fertilized by multiple sperm.

d. The risk for Down Syndrome increases when the mother is older than age 35 and the chromosomes in her eggs fail to separate properly during cell division.

7. During the first 36 hours after birth, nurses in the neonatal unit carefully watch the baby for irritability and abdominal distention. They note that she has passed no stool since birth. Which of the following has to be considered?

a. This is a common manifestation among most newborns and should not cause concern.

b. Down Syndrome babies occasionally have a serious gastrointestinal blockage that requires surgery.

c. The baby may be showing signs of a gastrointestinal allergy to her mother’s breast milk.

8. Having just learned that their daughter has Trisomy 21 and is not a mosaic, the parents are concerned about the possibility of severe mental retardation. Which of the following statements is most accurate?

a. Most children with Down Syndrome are only minimally retarded and should be able to live a completely normal life.

b. Most children with Down Syndrome are severely retarded and institutionalization is usually the best treatment option.

c. Every child with Down syndrome has some degree of mental retardation, but with early intervention affected individuals can live a long and relatively normal life.

9. Upon examination of the new infant, the pediatrician detects a heart murmur: Which of the following is the most accurate and appropriate statement?

a. Heart murmurs are common to many infants and usually resolve within one month after birth.

b. Heart murmurs are benign and not a cause for concern.

c. A heart murmur in a child with Down syndrome may be a sign of a heart defect. However, further testing is necessary before a heart defect can be diagnosed.

d. A heart murmur in a child with Down syndrome is diagnostic for a heart defect and surgery should be performed as soon as possible to prevent the onset of heart failure and pneumonia.

10. Conduct a literature search to determine the most common type of heart defect in children with Down syndrome.

11. Does the child have any abnormal laboratory blood test results and, if so, what condition might explain these findings?

12. Identify fifteen distinct clinical signs from the patient’s physical examination that are consistent with a diagnosis of Down syndrome