Ch. 10 Case Study: Hospital Tests Babies Al and Victoria are in their early 30s
ID: 89456 • Letter: C
Question
Ch. 10 Case Study: Hospital Tests Babies Al and Victoria are in their early 30s and had been married for 5 years when their first child was born. Victoria’s pregnancy was perfectly normal, and she had continued working until one week before the baby’s birth. She had never felt better. At birth, Al and Victoria’s son appeared perfectly normal. A few days after they took the baby home, the doctor called to say that the baby needed more tests. He asked that both parents come to them office visit because he wanted to talk to them. In his office the doctor said that a blood test done in the hospital showed that their child had a genetic disorder called phenylketonuria (PKU). If their child was not treated using a special diet, he would become mentally retarded. Al and Victoria had never heard of PKU and this news upset them. They immediately called around to family members and found that only a few relatives on either side of the family had ever heard of PKU, and none knew of any family member with the disorder. Al and Victoria wondered how a genetic disease that no one in their family had could suddenly appear in their child. They made an appointment for another visit with the doctor, and in the meantime began reading about PKU. 1. Why was Al and Victoria’s baby tested for PKU in the first place? 2. Neither Al nor Victoria’s family has a history of PKU. Should Al and Victoria’s baby have been tested at all? Explain. 3. Should Al and Victoria have the right to refuse this testing for their child? Why or why not? 4. PKU is a treatable genetic disorder. Affected children must follow a strict diet that prevents many of the condition’s symptoms. Does this information change your opinion about testing the baby? 5. Testing newborn for PKU is done in every US state; some states offer more extensive testing for newborns. Al and Victoria live in one of these states. Should they have been notified of the testing? Why or why not?
Explanation / Answer
1) Phenylketonuria testing is a part of routine newborn screening. Newborn screening is a state public health service that will reach to all newborn babies born in United States. Newborn screening ensures that all babies are screened for certain serious conditions like inborn errors of metabolism at birth. So, Al and Victoria's baby was tested for PKU.
2) Even if there is no positive family history, all newborn babies are subjected to entire newborn screening tests which include the test for PKU. It ensures that the effective treatment is started before some of the harmful effects can happen to the newborn.
3) Newborn screening procedures are determined by each states public health department. Hospital will screen every baby regardless of whether the parent asks for it. All states require screening to be performed on every newborns. Some of the states will allow parents to refuse newborn screening for religious purposes. But this decision should be taken after consulting a health professional because newborn screening is designed to protect the health of the baby.
4) PKU is an inborn error of metabolism due to disorders in phenylalanine metabolism. PKU if unattended will lead to mental disorders, behavioral problems and inellectual impairment. If phenylalanine is restricted in the food, the newborn will not have these problems. This information will certainly change the opinion of many parents to go for testing the baby for PKU.
5) Newborn screening procedures are determined by each states public health department. It is a normal hospital procedure to do newborn screening regardless of wheather parents ask for it and wheather they have medical insurance or not. Newborn scrreening is included in standard medical procedure which the parents will sign upon arrival for the birth of their newborn. Some of the states will allow parents to refuse newborn screening for religious purposes. But this decision should be taken after consulting a health professional because newborn screening is designed to protect the health of the baby.