The nurse in the genetics clinic is working with families ...

[strangeaffliction]

The nurse in the genetics clinic is working with families undergoing testing for genetic disease. If the initial testing is positive, more extensive testing is required to confirm:
 
  1. Pre-implantation genetic diagnosis.
 
  2. Prenatal diagnostic testing.
 
  3. Newborn screening.
 
  4. Carrier screening.

Question 2

When a parent reports multiple male miscarriages, the nurse should confer with the health care provider about a possible genetics referral for which type of conditions?
 
  1. Anticipation autosomal dominant conditions
  2. X-linked recessive conditions
  3. X-linked dominant conditions
  4. Autosomal recessive conditions

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Answer to Question 1

3, newborn screening.

Rationale:

1. Results from pre-implantation genetic diagnosis, prenatal diagnostic testing, and carrier screening have higher levels of specificity and sensitivity.
2. Results from pre-implantation genetic diagnosis, prenatal diagnostic testing, and carrier screening have higher levels of specificity and sensitivity.
3. Newborn screening for phenylketonuria, or sickle-cell or maple syrup urine disease, when positive, must be confirmed with more extensive testing.
4. Results from pre-implantation genetic diagnosis, prenatal diagnostic testing, and carrier screening have higher levels of specificity and sensitivity.

Answer to Question 2

2
Rationale 1: There is a variation of classic Mendelian inheritance called anticipation autosomal dominant in which the mother is only mildly affected but the child has a congenital form.
Rationale 2: Multiple male miscarriages can be a sign of X-linked recessive conditions that can be severe and can result in high mortality rates.
Rationale 3: X-linked recessive conditions are passed on only by the mother, and each individual has a 50 chance to receive the gene, making females carriers and males expressers of disease.
Rationale 4: Autosomal recessive conditions are very rare, since an individual must carry the altered gene on both of the paired chromosomes for disease to be caused; even when both parents are carriers, the chance for the disease to be expressed is only 25.
Global Rationale: