OB Chapter 10
A pregnant woman undergoing amniocentesis asks her nurse why the baby needs this fluid. What would be an accurate response from the nurse?
"Amniotic fluid cushions your baby to prevent injury." Rational: The amniotic fluid, kept inside the amnion, cushions the fetus against injury, regulates temperature, and allows the fetus to move freely inside it, which allows normal musculoskeletal development of the fetus. The woman's blood supplies food to—and carries wastes away from—the fetus. The placenta supplies the developing organism with food and oxygen; then the umbilical cord connects the fetal blood vessels contained in the villi of the placenta with those found within the fetal body.
When educating parents on recessive genetic disease statistics, the nurse understands that which statement by the parents indicates an accurate understanding of genetic inheritance?
"Each child will have a 25% chance of developing the disease." Rational: The statistics of inheritance are reset with each pregnancy; therefore, each pregnancy has the same statistical probability of displaying the genetic disease.
A 45-year-old man has just been diagnosed with Huntington disease. He and his spouse are concerned about their four children. Based on the knowledge of patterns of inheritance, how will the nurse respond?
"Each of your children will have a 50% chance of inheriting the disease." Rational: Huntington disease is an autosomal dominant disorder. A single gene in the heterozygous state is capable of producing the phenotype. In these cases, the abnormal or mutant gene overshadows the normal gene and the individual will demonstrate signs and symptoms of the disorder. The affected person usually has one affected parent. The defect occurs on the autosome not on the X chromosome; therefore, autosomal dominant inherited conditions affect female and male family members equally and follow a vertical pattern of inheritance in families. A person who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome pair. Each of that person's offspring has a 50% chance of inheriting the gene mutation for the condition and a 50% chance of inheriting the normal version of the gene.
A client at a preconception screening appointment indicates to the nurse that she is a carrier of muscular dystrophy, an X-linked recessive trait. Her partner does not have the trait. Which statement made by the client indicates an understanding of the implications?
"Each time I have a child, there is a 25% chance a female child will be a carrier." Rational: X-linked recessive inheritance affects more males than females. There is no male-to-male transmission but any man who is affected with an X-linked recessive disorder will have carrier daughters. If a woman is a carrier, there is a 25% chance she will have an "affected son," a 25% chance that her daughter will be a "carrier," a 25% chance that she will have an "unaffected" son, and a 25% chance her daughter will be a "noncarrier."
A nurse is assessing a client, and the client asks, "I just saw my neighbor leave the office. I know she was coming in for genetic testing on the baby. Is it bad?" What is the most appropriate response by the nurse?
"Health care of all individuals is a private matter." Rational: The nurse should remind the client that HIPAA laws prohibit the nurse from providing that information about another individual, and that genetic testing is held in the strictest confidence; the client should not pressure her neighbor into revealing the results of the testing.
A Catholic nurse who works in a genetics clinic is counseling a couple who has just been told that their baby has a genetic disorder. The couple states that they would like to terminate the pregnancy. What is the most appropriate response by the nurse?
"Here is a list of resources for you to contact." Rational: The nurse should provide the couple with information on all of their options and not impose his or her own opinions or values onto the decision.
A couple has just learned that their son will be born with Down syndrome. The nurse shows a lack of understanding when making which statement?
"I will alert your entire family about this so you don't have to." Rational: It is necessary to maintain confidentiality at all times, which prevents health care providers from alerting family members about any inherited characteristic unless the family member has given consent for the information to be revealed.
A young couple who underwent preconceptual genetic testing is at high risk for having a child with Down syndrome and have decided not to have children. Which response by the nurse is most appropriate?
"If you would like to discuss this further, here is the contact information for the genetic counseling center." Rational: Even if a couple decides not to have more children, the nurse should be certain they know genetic counseling is available for them should their decision change. It is not appropriate for the nurse to discuss adoption or surrogacy at this time. The couple needs time to process this information first. The nurse should avoid using terms such as "always" as the couple may have barriers that would prevent them from being able to adopt. The nurse should not state the client should approach family or friends for surrogacy at this time. If the couple would request information, the nurse would list all potential possibilities for surrogacy and not place emphasis/pressure on a certain group. Being referred for a second opinion is providing the couple with false hope. If the couple would request a referral, it would not be denied.
A nurse is conducting a presentation for a group of nurses at the prenatal clinic on basic genetic information. After teaching the group about genetics, the nurse determines that the teaching was effective based on which statement by the group?
"My genome is my genetic blueprint." Rational: An individual's genome represents his or her genetic blueprint, which determines genotype (the gene pairs inherited from parents) and phenotype (observed outward characteristics of an individual). A primary goal of human genome project (HGP) is to translate the findings into new strategies for the prevention, diagnosis, and treatment of genetic diseases and disorders.
A pregnant woman asks the nurse about medications taken during pregnancy and if they cross the placental barrier. What response by the nurse is appropriate?
"Some medications cross the placental barrier, so be sure to discuss medications with your provider." Rational: Some medications cross the placental barrier, so the nurse will encourage the woman to talk more specifically with her provider. The nurse would be in error to state that all or none cross the placental barrier. Regardless of the route, some medications cross the barrier and are unsafe during pregnancy. The first trimester is the most dangerous time to take a medication that crosses the placental barrier.
A couple has just been notified that their unborn child carries a genetic disorder. The couple expresses concern that the insurance company will not cover the costs associated with the medical bills for the child. What is the most appropriate response by the nurse?
"There are laws in place that prohibit that from happening."
A pregnant client asks the nurse if the fetus can be tested for Down syndrome. Which statement by the nurse is most appropriate?
"Yes, a chromosomal analysis can be done to assess for Down syndrome." Rational: Chromosomal analysis is part of the genetic testing for Down syndrome. The nurse would state this for the client to directly answer the client's question. A DNA analysis may be used in the detection of genetic diseases. The nurse should not avoid answering the client's question. While features of Down syndrome may be seen on ultrasound, the client asked if testing could be completed and the nurse should address this question.
A couple has come in for genetic testing. The nurse is explaining the different types of numerical abnormalities that may occur within the chromosome pairs. The nurse determines that additional explanation is necessary when the couple identifies which trisomy as common?
10 Rational: The most common trisomies include trisomy 21 (Down syndrome), trisomy 18, and trisomy 13.
A pregnant client is scheduled to undergo chorionic villus sampling (CVS) to rule out any birth defects. Ideally, when should this testing be completed?
10 to 12 weeks' gestation Rational: Chorionic villus sampling (CVS) is typically performed between 10 to 12 weeks' gestation. Sometimes it may be offered up to 14 weeks. The test is not conducted before 10 weeks' gestation.
The nurse is caring for a client at the prenatal clinic. The client reports that she has felt some fluttering sensations in her lower abdomen and she noticed that her waistline is now totally gone. Additionally, she shows the nurse her nipples and the areola are much darker. Based upon this assessment, in which month of pregnancy is this client?
4th month Rational: Based upon the presenting findings, the mother is in her 4th month of pregnancy. This is when quickening occurs—the beginning of feeling fetal movement. Also, the mother now has lost her waistline and the breast areola has begun to darken.
The nurse cares for multiple clients planning to have children. Which client will the nurse identify as priority for needing a referral for prenatal genetic testing?
A male client with family history of sickle cell disease Rational: The nurse would refer the male client with a family history of a sickle cell disease, a genetic disorder, for prenatal genetic testing. Women older than 35 years of age and men older than 45 years of age should be referred. However, age is not priority over a known family history. Women with diabetes need not necessarily be referred for genetic testing.
A nurse is caring for a client who has just been told that her unborn baby carries a genetic disorder associated with significant health related issues. The client asks, "Should I kill the baby?" What is the most appropriate nursing diagnosis for this client?
Decisional conflict related to continuation of pregnancy Rational: The client is unsure as to whether to continue the pregnancy or terminate it as evidenced by the question she asked the nurse.
A woman at 15 weeks' gestation asks the nurse what the fetus currently looks like at this stage of the pregnancy. Which response by the nurse would be most accurate?
Fingernails are present. Rational: Vernix caseosa, a white, greasy film, covers the fetus at weeks 17 through 20. The fetus reaches a length of approximately 15 in (38 cm) by weeks 25 to 28. Fingernails and toenails are present by approximately week 13 through 16. Rhythmic breathing movements occur between weeks 29 through 32.
Fetal circulation differs from the circulatory path of the newborn infant. In utero the fetus has a hole connecting the right and left atria of the heart. This allows oxygenated blood to quickly pass to the major organs of the body. What is this hole called?
Foramen ovale Rational: The foramen ovale is a hole that connects the right and left atria so the majority of oxygenated blood can quickly pass into the left side of the fetal heart, go to the brain, and move to the rest of the fetal body.
A nurse overhears a colleague tell a client that based on the genetic testing results she should terminate the pregnancy. Which action is most appropriate for the nurse to take?
Immediately stop the nurse. Rational: The nurse should interrupt the nurse and remind him or her that it is important not to impose personal values onto the client.
A client presents to the hospital experiencing a spontaneous abortion (miscarriage) at 8 weeks' gestation, which is the third spontaneous abortion (miscarriage) in 2 years. The health care provider offers to send the products of conception for genetic testing. The client expresses not understanding the reason for this action. How does the nurse explain?
Many spontaneous abortions (miscarriages) occur due to chromosomal disorders and this testing may determine if this is the cause. Rational: Many spontaneous abortions (miscarriages) occur due to chromosomal disorders, and genetic testing may be completed to find out if this was the cause of this spontaneous abortion (miscarriage). The testing will not determine hormone levels, and the client may need further testing to determine the cause of recurrent spontaneous abortions (miscarriages). If the client declines testing the decision will be respected, but the client should be provided with information to make an informed decision first. The nurse should not assume how the client will feel or respond to learning if there were or were not genetic abnormalities.
Amniotic fluid is produced throughout the pregnancy by the fetal membranes. Amniotic fluid has four major functions. What is one of these functions?
Physical protection
A nurse is present when a health care provider tells a couple that the results of their genetic testing came back normal. Later, the nurse notes that the completed genetic report identifies the couple positive for a genetic disorder. What is the most appropriate action by the nurse?
Report it to the nursing supervisor. Rational: The nurse has an obligation to report unethical behavior and should report the discrepancy to the nursing supervisor.
A pregnant client and her husband have had a session with a genetic specialist. What is the role of the nurse after the client has seen a specialist?
Review what has been discussed with the specialist. Rational: After the client has seen the specialist, the nurse should review what the specialist has discussed with the family and clarify any doubts the couple may have. The nurse should never make the decision for the client but rather should present all the relevant information and aid the couple in making an informed decision. There is no need for the nurse to refer the client to another specialist or for further diagnostic and screening tests unless instructed to do so by the specialist.
A pregnant woman of Jewish descent comes to the clinic for counseling and tells the nurse that she is worried her baby may be born with a genetic disorder. Which disease does the nurse identify to be a risk for this client's baby based on the family's ancestry?
Tay-Sachs disease Rational: Sickle cell anemia occurs most often in African Americans. Tay-Sachs disease occurs most often in people of Jewish ancestry. Beta-thalassemia is a blood dyscrasia that occurs frequently in families of Greek or Italian heritage. Down syndrome is not attributed to Jewish ancestry.
The health care provider has prescribed a karyotype for a newborn. The mother questions the type of information that will be provided by the test. What information should be included in the nurse's response?
The karyotype will assess the baby's chromosomal makeup. Rational: The pictorial analysis of the number, form, and size of an individual's chromosomes is referred to as a karyotype. This analysis commonly uses white blood cells and fetal cells in amniotic fluid. The chromosomes are numbered from the largest to the smallest, 1 to 22, and the sex chromosomes are designated by the letter X or the letter Y. The severity and related complications of a disorder are not determined by the karyotype. Condition management is not determined by the karyotype.
A nurse is caring for a couple during a prenatal clinic visit. Which assessment finding would lead the nurse to suggest genetic counseling for the couple?
The mother just turned 39 years of age. Rational: Genetic counseling is indicated for any woman older than 35 years of age and any man older than 55 years of age. This is directly related to the association between advanced parental age and the occurrence of Down syndrome. The mother's family history would be significant if there were indications of inherited diseases, congenital anomalies, or other such disorders. The father's age would not be a concern at 48 years old. The family may benefit from family counseling to assure the blended family is healthy, but genetic counseling cannot help with that issue.
The nurse prepares a couple to have a karyotype performed. What describes a karyotype?
a visual presentation of the chromosome pattern of an individual
A client is offered preconception genetic testing but reports being worried about the results preventing access to health insurance in the future. How does the nurse respond?
There are laws that prevent discrimination related to genetic information for health insurance. Rational: The Genetic Information Nondiscrimination Act prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future.
A nurse is caring for a 37-year-old pregnant client who is expecting twin boys. The client smoked prior to conception but has stopped during the pregnancy. A relative of the client has Klinefelter syndrome, and the client wants to find out more about the disorder. Which information will the nurse provide to the client during genetic counseling?
There is a greater risk of Klinefelter syndrome due to the client's age. Rational: The risk of trisomies such as Klinefelter syndrome increases with the age of the mother at the time of pregnancy. Klinefelter syndrome occurs only in males. Having twins does not increase the risk of Klinefelter syndrome for the babies, nor does the client's previous smoking habit have any bearing on the risk for Klinefelter syndrome.
A nurse assesses that a 15-year-old female client has not developed secondary sexual characteristics, is short in stature, and has a webbed neck. The nurse identifies this as being most likely related to which diagnosis?
Turner syndrome Rational: The nurse should identify these findings as being consistent with Turner Syndrome, which is a gonadal dysgenesis or only having one functional X chromosome.
Which type of Mendelian inherited condition results in both genders being affected equally in a vertical pattern?
autosomal dominant inheritance Rational: An individual who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome of a pair. The pattern of inheritance in autosomal recessive inherited conditions is different from that of autosomal dominant inherited conditions in that it is more horizontal than vertical, with relatives of a single generation tending to have the condition. Chromosome X-linked conditions may be inherited in families in recessive or dominant patterns. In both patterns, the gene mutation is located on the X chromosome. All males inherit an X chromosome from their mother with no counterpart; hence, all males express the gene mutation. Neural tube defects, such as spina bifida and anencephaly, are examples of multifactorial genetic conditions. The majority of neural tube defects are caused by both genetic and environmental influences that combine during early embryonic development, leading to incomplete closure of the neural tube.
The nurse is caring for a child with Down syndrome (trisomy 21). This is an example of which type of inheritance?
chromosome nondisjunction Rational: Down syndrome occurs when an ovum or sperm cell does not divide evenly, permitting an extra 21st chromosome to cross to a new cell.
The nurse is performing a newborn examination. What assessment finding by the nurse may identify potential chromosomal anomalies?
ears set below the level of the eyes Rational: Low-set ears may be associated with trisomy 13 or trisomy 18 and is an abnormal finding. Acrocyanosis is a normal finding on newborn assessment in the first 24 hours and is not associated with chromosomal anomalies. Two creases on the palms is a normal finding; a single palmar crease may be associated with trisomy 21. Flexed muscle tone is a normal finding; decreased muscle tone may be associated with trisomy 21.
Genetics-related health care is basic to the holistic practice of nursing. What should nursing practice in genetics include?
gathering relevant family and medical history information Rational: The nurse's role in genetic counseling is to provide information, collect relevant data, offer support, and coordinate resources. The nurse should not provide advice on terminating a pregnancy, nor attempt to discourage women 40+ from trying to conceive. The nurse also does not identify genetic markers.
A woman is taking vaginal progesterone suppositories during her first trimester because her body does not produce enough of it naturally. She asks the nurse what function this hormone has in her pregnancy. What should the nurse explain is the primary function of progesterone?
maintains the endometrial lining of the uterus during pregnancy Rational: Progesterone is necessary to maintain the endometrial lining of the uterus during pregnancy. It is human chorionic gonadotropin (hCG) that acts to ensure the corpus luteum of the ovary continues to produce estrogen and progesterone. Estrogen contributes to mammary gland development, and human placental lactogen regulates maternal glucose, protein, and fat levels.
Which genetic condition is caused by a small gene mutation that affects protein structure, producing hemoglobin S?
sickle cell anemia Rational: Sickle cell anemia is an example of a genetic condition caused by a small gene mutation that affects protein structure, producing hemoglobin S. Marfan syndrome is an autosomal dominant inherited condition. Hemophilia is an X-linked recessive inherited condition. Tay-Sachs disease is an autosomal recessive inherited condition.
A nurse is conducting a presentation at a community health center about congenital malformations. The nurse describes that some common congenital malformations can occur and are recognized to be caused by multiple genetic and environmental factors. Which example would the nurse most likely cite?
spina bifida Rational: Spina bifida is a multifactorial inherited disorder thought to be due to multiple genetic and environmental factors. Cystic fibrosis is considered an autosomal recessive inherited disorder, while color blindness and hemophilia are considered X-linked inheritance disorders.
Nurses are expected to know how to use the first genetic test. What is it?
the family history Rational: The family history is considered the first genetic test. It is expected that all nurses will know how to use this genetic tool.
A 33-year-old pregnant client asks the nurse about testing for birth defects that are safe for both her and her fetus. Which test would the nurse state as being safe and noninvasive?
ultrasound Rational: The nurse would state that an ultrasound is a noninvasive test that is completely safe for both mother and child. Amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling are invasive tests that are associated with maternal and fetal risk.
During a clinical rotation at a prenatal clinic, a client asks a nurse what causes certain birth defects. The nurse replies that they can be caused by teratogens. What does the severity of the defects depend on? Select all that apply.
when during development the conceptus is exposed to the teratogen the particular teratogen to which the fetus is exposed Rational: A teratogen is a substance that causes birth defects. The severity of the defect depends on when during development the conceptus is exposed to the teratogen and the particular teratogenic agent to which the fetus is exposed.
