Genetic Assessment

A 42-year-old woman, who is 16 weeks pregnant with her third child, was told by her health care provider that her blood test for birth defects was abnormal and further testing would be required. The woman asks the nurse to elaborate on what possible procedures she may be scheduled to undergo. Which response by the nurse is appropriate? --"A detailed ultrasound to look for birth defects may be recommended." --"A procedure that tests the cells in the amniotic fluid for genetic disorders may be recommended." --"A procedure that monitors the size of the fetus over specific periods of time may be recommended." --"A procedure that obtains blood from the fetal umbilical cord to test for genetic disorders may be recommended." --"A procedure that obtains tissue sample by inserting a needle through your abdomen guided by an ultrasound may be recommended."

--"A detailed ultrasound to look for birth defects may be recommended." A detailed ultrasound may detect abnormalities in fetal development associated with genetic disorders. It is a way to diagnose fetal abnormalities during the prenatal period. --"A procedure that tests the cells in the amniotic fluid for genetic disorders may be recommended." An amniocentesis allows for fetal cell analysis which may demonstrate the presence of a genetic disorder and is a way to diagnose fetal abnormalities during the prenatal period. --"A procedure that obtains blood from the fetal umbilical cord to test for genetic disorders may be recommended." Percutaneous umbilical blood sampling may be used to analyze fetal cells for genetic disorders. It is a way to diagnose fetal abnormalities during the prenatal period. --"A procedure that obtains tissue sample by inserting a needle through your abdomen guided by an ultrasound may be recommended." Chorionic villus sampling (CVS) is a procedure used to diagnose fetal abnormalities during the prenatal period by obtaining a small sample of chorionic villus (tissue from the placenta) and can be done through the cervix (transcervical) or abdomen (transabdominal). Inserting a needle through the abdomen while guided by an ultrasound describes the transabdominal method.

A nurse recently began working in an office that provides genetic counseling services to couples. The nurse is overwhelmed with all of the information she must know. The nurse asks a co-worker about the most important information parents want to learn. Which response by the nurse's peer is appropriate? --"Most parents want to know what caused the genetic abnormality to happen." --"Most parents want to know the details about the prenatal screening test they will need." --"Most parents want to know the possibility of a birth defect when they don't have this characteristic." --"Most parents want to know whether they will need to have an abortion due to the genetic abnormality."

--"Most parents want to know the possibility of a birth defect when they don't have this characteristic." Most parents frequently ask about the possibility of a birth defect. when they don't possess this characteristic defect. In response, the nurse should inform the parents that autosomal recessive disorders are carried by parents who themselves are unaffected.

The nurse is caring for a 36-year-old pregnant woman at 16 weeks whose health care provider recommended genetic counseling due to her advanced maternal age. The patient states, "I just don't know what to do; what if there is something wrong?" Which response by the nurse is appropriate? --"You want to know if something is wrong, so go to genetic counseling." --"You need to talk with your health care provider again regarding genetic counseling." --"The tests are often inconclusive or provide unexpected results, so it isn't worth doing it." --"Your concern is valid. Genetic counseling could raise issues that are hard to talk about or deal with."

--"Your concern is valid. Genetic counseling could raise issues that are hard to talk about or deal with." Genetic counseling can raise issues that are uncomfortable and can lead to family conflict. The nurse can help the parents weigh the issues surrounding seeking genetic counseling.

A nurse reviews the family history of a patient that is positive for multiple birth defects, Trisomy 13, 18, and 21 and Fragile X syndrome. The patient states that she desires to become pregnant within the next 2 months and inquires about the preconception screening process. Which actions should the nurse take? --Ask patient to bring pictures of family members. --Tell patient that she will likely undergo blood testing. --Obtain history about the family's ethnic background. --Inform patient about the importance of physical exam. Provide a list of support groups that patient can attend.

--Ask patient to bring pictures of family members. Preconception screening includes examination of family photographs for subtle or obvious birth defects. --Tell patient that she will likely undergo blood testing. Preconception screening includes chromosome and DNA analysis. A blood sample is used to complete the analysis. --Obtain history about the family's ethnic background. Knowledge of the patient's ethnic background is important as some ethnic groups have higher incidence of some genetic disorders. --Inform patient about the importance of physical exam. Preconception screening includes a physical examination to look for obvious or subtle signs of birth defects.

A 45-year-old newly pregnant woman has Type 1 diabetes, hypertension, and gastroesophageal reflux disease (GERD). On initial prenatal visit, the antepartum nurse offers genetic counseling services which the patient refuses. Which action is priority for the nurse to take? --Educate the patient as to why genetic testing is indicated. --Recognize patient's refusal and proceed with physical assessment. --Initiate the referral for genetic counseling regardless of the patient's response. --Tell the patient that there are too many risk factors not to initiate genetic counseling and restate the question.

--Educate the patient as to why genetic testing is indicated. This is the priority action because providing information as to why genetic testing is indicated may change the patient's perception of genetic counseling. The patient has many risk factors associated with birth defects and intelligence disorders. Genetic counseling would benefit the patient and fetus.

A pregnant patient is crying and visibly upset when the nurse enters her room. The patient tells the nurse that she was just told her baby has Trisomy 18 and would die before or immediately after delivery. The patient tells the nurse she just doesn't know what to do. Which consideration would guide the nurse in responding to the patient? --The nurse considers that the patient needs more education on Trisomy 18. --The nurse considers that the patient may not desire to continue with the pregnancy. --The nurse considers that the diagnosis may be inaccurate and further testing should be performed. --The nurse is in the unique position to assist the patient in dealing with the emotional impact of a genetic disorder.

--The nurse is in the unique position to assist the patient in dealing with the emotional impact of a genetic disorder. As part of the genetic counseling team, the nurse helps family members deal with the emotional impact of a birth defect or syndrome. Recognizing this is a unique position to assist the patient allows the nurse to purposefully support the patient during this difficult time.

A patient came for genetic evaluation and was asked to provide information about family members with birth defects or chromosomal abnormalities. Which consideration should the nurse take as priority? --The nurse should consider that the significant family information will be used to identify patients who require specific prenatal screening tests. --The nurse should consider that the information about family members is used to identify patients who require referrals to community services. --The nurse should consider that pertinent physical and medical information about family members is used to identify patients who would benefit from genetic counseling. --The nurse should consider that the information about family members is used to identify patients who require specific education regarding identified birth defects or intellectual disorders.

--The nurse should consider that pertinent physical and medical information about family members is used to identify patients who would benefit from genetic counseling. Information about family members with birth defects or chromosomal abnormalities allows for identification of those who would benefit from genetic counseling.

A 2-month-old pediatric patient has been admitted to the hospital for the third time in 1 month because of complications related to a known congenital heart defect. The parents appear tired, and the nurse overhears them arguing about finances and who has sick time left. Which action is appropriate for the nurse to take? --The nurse should talk with the parents regarding their insurance coverage. --The nurse should ask the parents if they need assistance from the billing department. --The nurse should contact social services to provide appropriate support services. --The nurse should talk with the parents regarding the Family and Medical Leave Act.

--The nurse should contact social services to provide appropriate support services. Utilizing social services will put the parents in contact with the needed support services to help them financially and emotionally.

During the prenatal visit, the patient is informed that her fetus has Trisomy 13. The patient asks the nurse multiple questions regarding the genetic abnormality. Which actions by the nurse are appropriate? Select all that apply. --The nurse should discuss options for care of the infant. --The nurse should discuss the natural progression of the disorder. --The nurse should discuss immediate termination of the pregnancy. --The nurse should educate the patient about the disorder and its cause. --The nurse should provide information on support groups specific to the disorder.

--The nurse should discuss options for care of the infant. When a diagnosis is established, counseling should include information regarding the care of the affected person. --The nurse should discuss the natural progression of the disorder. When a diagnosis is established, counseling should include information regarding the natural progression of the disorder. --The nurse should educate the patient about the disorder and its cause. When a diagnosis is established, counseling should include information about the disorder and its cause.

A patient, who is undergoing genetic testing and counseling, tells the nurse she feels hopeless because the process has been so long and discouraging. She further confides to the nurse that she feels alone in this process. Which action should the nurse consider as priority? --The nurse should assess the patient's risk for self-harm. --The nurse should discuss support services available in the community. --The nurse should refer the patient to a psychotherapist in the community. --The nurse should remind the patient that the counseling process is long and drawn out.

--The nurse should discuss support services available in the community. Genetic counseling utilizes a multidisciplinary approach with patients. The nurse should identify support groups and grief counselors in the area to assist the patient with her feelings.

The intrapartum nurse is caring for a laboring patient whose fetus is diagnosed with Trisomy 13. The patient tells the nurse, "My baby isn't going to live for long after being born," and begins crying. Which action should the nurse consider doing next? --The nurse should sit with the patient, provide support, and actively listen. --The nurse should place a referral to social services to assist with needed services. --The nurse should provide a list of support groups related to Trisomy 13 to the patient. --The nurse should ask the patient if she would like to talk with her health care provider.

--The nurse should sit with the patient, provide support, and actively listen. Sitting with the patient and listening actively while she is talking demonstrates availability and genuine support.

During the initial prenatal appointment, a newly pregnant woman reports that her brother was born with Down syndrome. The woman is 32 years old and has experienced two miscarriages prior to this pregnancy. The woman asks the nurse if she should be concerned. What will the nurse consider after talking with this patient? --The nurse will consider the family history and discuss the maternal quad screening with the patient. --The nurse will consider the history of two miscarriages and discuss early sonography for a fetal heartbeat. --The nurse will consider that analysis of the entire family is necessary and genetic counseling should be discussed. --The nurse will consider the relative with Down syndrome and patient age and discuss needed prenatal screenings.

--The nurse will consider that analysis of the entire family is necessary and genetic counseling should be discussed. The patient history provides information that must be acted upon. With the history of Down syndrome and miscarriages, the patient needs to obtain genetic counseling. Without counseling, it is hard to answer the question posed by the patient.