A father and mother are carriers of phenylketonuria (PKU). Their 2-year-old daughter has PKU. The cou- ple tells the nurse that they are planning to have a second baby. Because their daughter has PKU, they are sure that their next baby won’t be affected. What response by the nurse is most accurate?

“You are both carriers, so each baby has a 25% chance of being affected.”

The nurse is providing genetic counseling for an expectant couple who already have a child with trisomy

18. The nurse should:

Discuss options with the couple, including amniocentesis to determine whether the fetus is affected.

The nurse is assessing the knowledge of new parents with a child born with maple syrup urine disease (MSUD). This is an autosomal recessive inherited disorder, which means that:

Both genes of a pair must be abnormal for the disorder to be expressed.

In presenting to obstetric nurses interested in genetics, the genetic nurse identifies the primary risk(s) as- sociated with genetic testing as:

Denial of insurance benefits.

A man’s wife is pregnant for the third time. One child was born with cystic fibrosis, and the other child is healthy. The man wonders what the chance is that this child will have cystic fibrosis. This type of testing is known as:

Recurrence risk.

A key finding from the Human Genome Project is:

Approximately 20,000 genes make up the genome.

You are a maternal-newborn nurse caring for a mother who just delivered a baby born with Down syn- drome. What nursing diagnosis would be the most essential in caring for the mother of this infant?

Interrupted family processes

A couple has been counseled for genetic anomalies. They ask you, “What is karyotyping?” Your best re- sponse is:

“Karyotyping will provide information about the gender of the baby and the number and structure of the chromosomes.”

In practical terms regarding genetic health care, nurses should be aware that:

The most important of all nursing functions is providing emotional support to the family during counseling.

With regard to prenatal genetic testing, nurses should be aware that:

Maternal serum screening can determine whether a pregnant woman is at risk of carrying a fetus with Down syndrome.

With regard to the estimation and interpretation of the recurrence of risks for genetic disorders, nurses should be aware that:

The risk factor remains the same no matter how many affected children are already in the family.

The nurse must be cognizant that an individual’s genetic makeup is known as his or her:

Genotype.

With regard to chromosome abnormalities, nurses should be aware that: