Chapter 10

Genetics-related health care is basic to the holistic practice of nursing. What should nursing practice in genetics include? providing advice on termination of pregnancy discouraging females to conceive after the age of 40 years identifying genetic markers gathering relevant family and medical history information

gathering relevant family and medical history information -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 at 15 weeks' gestation who works at a daycare center thinks she may have just been exposed to rubella at work. The client asks how this may affect her fetus. What is the bestresponse the nurse can give? "By the end of the eighth week all of the organ systems and major structures are present, so exposure to any teratogen can lead to birth defects. More assessments are needed." "We will have to see what gestational age your baby was at exposure." "We will need to perform some additional tests." "Your health care provider will let you know if there are any problems with your baby."

"By the end of the eighth week all of the organ systems and major structures are present, so exposure to any teratogen can lead to birth defects. More assessments are needed." -All organ systems are complete at 8 weeks gestation. During this time of organogenesis the growing structure is most vulnerable to invasion by teratogens.

The school nurse is presenting a lecture to adolescents to teach them how conception occurs. Which statement by the nurse would accurately describe this process? "At the time of conception, the ovum determines the sex of the baby." "Human life begins with the union of two cells: the zygote and the sperm." "Conception usually occurs when the ovum is in the outer third of the fallopian tube." "The ovum carries the Y chromosome, and the sperm carries an X or Y chromosome."

"Conception usually occurs when the ovum is in the outer third of the fallopian tube." -Conception usually occurs when the ovum is in the outer third of the fallopian tube (oviduct). Human life (conception) begins with the union of two cells: the ovum (female) and the sperm(male). At the time of conception, the sperm determines the sex. An ovum carries only one type of chromosome to determine sex: the X chromosome. A male sperm cell may carry either an X or Y sex chromosome. If a sperm cell carrying a Y chromosome fertilizes the ovum, a boy (XY) will result; if the sperm cell carries an X chromosome, the result will be a girl (XX).

Which question would be most important for a nurse to ask a G2P1 client who has a child with sickle cell anemia? "Have you done well to control your stress?" "Do you know the sex of your baby?" "Did you and your partner get genetic testing?" "When was your last exacerbation?"

"Did you and your partner get genetic testing?" -The nurse should assess whether the client has had genetic testing completed. If not, the client should be referred for testing.

A client of African descent at 12 weeks' gestation states concern about her fetus having a genetic disorder. Which statement by the nurse is most appropriate? "You will be tested soon to see if anything is wrong with your baby." "Do you want to terminate the pregnancy if a genetic disorder is found?" "Your health care provider can discuss this concern with you." "Does anyone in your or your partner's families have a genetic disorder?"

"Does anyone in your or your partner's families have a genetic disorder?" -Assessing family history is important to help identify individuals and couples who could benefit from genetic testing for carrier identification. Although the client will have the option to be tested, the nurse would discuss the client's current concern and not dismiss it. The nurse would not state "to see if anything is wrong" because finding an indication of a disorder does not mean something is "wrong" with the fetus. The nurse would not initially discuss termination, nor dismiss the client to the health care provider to discuss.

A pregnant client is scheduled to undergo chorionic villus sampling (CVS) to rule out any birth defects. Ideally, when should this testing be completed? 7 to 9 weeks' gestation 5 to 6 weeks' gestation 10 to 12 weeks' gestation 4 to 5 weeks' gestation

10 to 12 weeks' gestation -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.

A pregnant client who is planning to have genetic testing asks the nurse when she should schedule her amniocentesis. What should the nurse tell the client? 30 weeks 10 weeks 16 weeks 24 weeks

16 weeks -The nurse should tell the client that an amniocentesis is typically scheduled between 15 and 18 weeks' gestation.

A woman is to undergo quad screening testing. The nurse would anticipate that this test would be done at which time? 12 weeks' gestation 20 weeks' gestation 16 weeks' gestation 24 weeks' gestation

16 weeks' gestation -Typically, a triple or quad screening test would be done between 15 and 18 weeks' gestation.

A nurse is counseling a couple who have a 5-year-old daughter with Down syndrome. The nurse recognizes that their daughter's genome is represented by which chromosome combination? 46XX 46XX5p- 47XY21+ 47XX21+

47XX21+ -In Down syndrome, the person has an extra chromosome 21, so this is abbreviated as 47XX21+ (for a female) or 47XY21+ (for a male). 46XX is a normal genome for a female. The abbreviation 46XX5p- is the abbreviation for a female with 46 total chromosomes but with the short arm of chromosome 5 missing (Cri-du-chat syndrome).

While in utero, a fetus swallows many substances that are deposited in the fetal intestinal system as meconium. What problem can arise from this occurrence? Abdominal distension occurs and infection can set in. The fetus can become constipated following birth. If the fetus becomes stressed, the meconium is released into the amniotic fluid, placing the fetus at risk for pneumonia. Meconium-stained fluids cause an increased risk of jaundice.

If the fetus becomes stressed, the meconium is released into the amniotic fluid, placing the fetus at risk for pneumonia. -Infants develop meconium in their intestines; if they are stressed or hypoxic, the anal sphincter relaxes and meconium is passed into the amniotic fluid. This poses a danger to the fetus since they breathe in this fluid and swallow it. The meconium lines the lungs and respiratory passages, making it difficult for the infant to breathe once it is born.

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? Call the client later and apologize. Contact the health care provider. Tell the unlicensed assistive personnel Immediately stop the nurse.

Immediately stop the nurse. -The nurse should interrupt the nurse and remind him or her that it is important not to impose personal values onto the client.

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? Klinefelter syndrome Turner syndrome Patau syndrome Edwards syndrome

Turner syndrome -The nurse should identify these findings as being consistent with Turner Syndrome, which is a gonadal dysgenesis or only having one functional X chromosome.

The nurse prepares a couple to have a karyotype performed. What describes a karyotype? a visual presentation of the chromosome pattern of an individual the gene carried on the X or Y chromosome the dominant gene that will exert influence over a correspondingly located recessive gene a blood test that will reveal an individual's homozygous tendencies

a visual presentation of the chromosome pattern of an individual -A karyotype is a photograph of a person's chromosomes aligned in order.

Cystic fibrosis is an example of which type of inheritance? X-linked recessive autosomal recessive multifactorial autosomal dominant

autosomal recessive -Cystic fibrosis is an autosomal recessive inherited condition. Huntington disease would be an example of an autosomal dominant inherited condition. Hemophilia is an X-linked recessive inherited condition. Cleft lip is a multifactorial inherited condition.

A group of nursing students are preparing a presentation for a health fair illustrating the structures found during a pregnancy. Which structures should the students point out form a protective barrier around the developing fetus? chorion and endoderm amnion and mesoderm chorion and amnion ectoderm and amnion

chorion and amnion -The chorion and amnion are the two fetal membranes. The ectoderm, mesoderm, and endoderm are layers in the developing blastocyst.

A nursing student is explaining to a newly pregnant woman what happens during each stage of fetal development. At which stage does the nurse inform the woman that the lungs are fully shaped? end of 8 weeks end of 4 weeks end of 16 weeks end of 12 weeks

end of 16 weeks -At the end of 16 weeks, the lungs are fully shaped, fetus swallows amniotic fluid, skeletal structure is identifiable, downy lanugo hair is present on the body, and sex can be determined using ultrasound.

A nurse is providing prenatal care to a pregnant woman. Understanding a major component of this care, the nurse would conduct a risk assessment for: infant nutritional needs. family dynamics. genetic conditions and disorders. cultural differences.

genetic conditions and disorders. -Nurses at all levels should be participating in risk assessment for genetic conditions and disorders, explaining genetic risk and genetic testing, and supporting informed health decisions and opportunities for early intervention.

The nurse is creating an educational pamphlet for pregnant mothers. Which is the bestdescription of fetal development for the nurse to emphasize? length, weight, sex age in weeks and systems developed sex and systems developed gestational age, length, weight, and systems developed

gestational age, length, weight, and systems developed -Client education is a major component of maternal-child nursing. During pregnancy, nurses provide anticipatory guidance to prepare the woman and her significant other for the changes each month brings. Clients most often want to know gestational age in weeks, length, weight, and systems developed; the client is then able to visualize what the fetus looks like.

The nursing instructor is teaching a class on the structures vital to the development of the fetus. The instructor determines the class is successful when the class correctly chooses which facts concerning amniotic fluid? production stops in the 8th month amniotic fluid is 90% water helps the fetus regulate body temperature produced by fetal brain

helps the fetus regulate body temperature -Amniotic fluid is formed by the fetal membranes, the amnion and chorion, on a constant basis until birth. It is 98% to 99% water, with the remaining 1% to 2% composed of electrolytes, creatinine, urea, glucose, hormones, fetal cells, lanugo, and vernix. It serves four main functions: physical protection, temperature regulation, provision of unrestricted movement, and symmetrical growth. The fetus is unable to regulate its own body temperature so the amniotic fluid provides this function.

A nurse is interviewing the family members of a pregnant client to obtain a genetic history. While asking questions, which information would be most important? avoidance of questions on race or ethnic background if couples are related to each other or have blood ties socioeconomic status of the family members specific physical characteristics of family members

if couples are related to each other or have blood ties -While obtaining the genetic history of the client, the nurse should find out if the members of the couple are related to each other or have blood ties, as this increases the risk of many genetic disorders. The socioeconomic status or the physical characteristics of family members do not have any significant bearing on the risk of genetic disorders. The nurse should ask questions about race or ethnic background because some races are more susceptible to certain disorders than others.

The nurse is preparing a pregnant client with severe hypertension for an emergent amniocentesis for possible early delivery of the fetus. The nurse will explain to the client that the health care provider is evaluating which parameter? fetal renal output maternal blood makeup fetal alimentary output level of fetal surfactants

level of fetal surfactants -Amniocentesis is done to check the lung surfactant ratio of the fetus, which will determine if the lungs are matured enough for delivery. Amniocentesis can be used to determine fetal renal and alimentary output, but these factors are not critical to birth. Maternal blood work will reveal information about the mother and not the lung maturity of the fetus.

The placenta is the site where antibodies in the mother's blood pass into the fetal circulation. These antibodies give passive immunity to the fetus for several common childhood diseases. There are some infections for which the mother does not provide antibodies to the fetus. What infection is the fetus not protected from? rubeola diphtheria smallpox rubella

rubella -The fetus does not receive immunity to rubella, cytomegalovirus (CMV), varicella, or measles. If the woman encounters these pathogens during her pregnancy, fetal infection may ensue.

Which genetic condition is caused by a small gene mutation that affects protein structure, producing hemoglobin S? hemophilia Marfan syndrome Tay-Sachs disease sickle cell anemia

sickle cell anemia -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 cystic fibrosis hemophilia color blindness

spina bifida -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 the physical assessment the developmental assessment the psychosocial assessment

the family history -The family history is considered the first genetic test. It is expected that all nurses will know how to use this genetic tool.

The nurse is providing prenatal care to a young couple who is pregnant with their first child. In what period of development would the nurse explain to the couple that most congenital defects would occur? the period of the fetus the period of the embryo the period of the zygote all periods are equally vulnerable

the period of the embryo -During the period of the embryo, which lasts until the eighth week after conception, the embryo is in what is called the critical phase of human development. During these weeks, all the organs and structures of the human are formed and are most susceptible to damage.

Implantation generally occurs at which place on the uterus? directly over the cervical os the lower anterior surface directly over an opening to a fallopian tube the upper posterior surface

the upper posterior surface -Implantation occurs most commonly on the upper posterior surface of the uterus. This position allows the fetus to deliver before the placenta.

A fertilized ovum is known as which structure? fetus chorion zygote embryo

zygote -A fertilized ovum is known as a zygote and is the beginning of potential individual human development. The developing human organism is known as an embryo from the time it implants on the uterine wall until the eighth week after inception and as a fetus from the beginning of the ninth week after fertilization through birth. The chorion is the outermost cell layer that surrounds the embryo and fluid cavity.

The nursing instructor is preparing a class presentation covering the various hormones and their functions during pregnancy. The instructor determines the class is successful when the class correctly matches which function with hCG? continues progesterone production by corpus luteum provides rich blood supply to decidua maintains nutrient-rich decidua sustains life of placenta

continues progesterone production by corpus luteum -The corpus luteum is responsible for producing progesterone until this function is assumed by the placenta. hCG is a fail-safe mechanism to prolong the life of the corpus luteum and ensure progesterone production. Estrogen is responsible for providing a rich blood supply to the decidua. Progesterone helps maintain a nutrient-rich decidua.

The nursing instructor is preparing a class presentation covering the various hormones and their functions during pregnancy. The instructor determines the class is successful when the class correctly matches which function with hCG? provides rich blood supply to decidua maintains nutrient-rich decidua sustains life of placenta continues progesterone production by corpus luteum

continues progesterone production by corpus luteum -The corpus luteum is responsible for producing progesterone until this function is assumed by the placenta. hCG is a fail-safe mechanism to prolong the life of the corpus luteum and ensure progesterone production. Estrogen is responsible for providing a rich blood supply to the decidua. Progesterone helps maintain a nutrient-rich decidua.

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? "Both genes of a pair must be abnormal for the disorder to occur in your children." "Your male children are more likely to be affected than your female children." "Each of your children will have a 50% chance of inheriting the disease." "This disorder is carried on the X chromosome so only your female children would be affected."

"Each of your children will have a 50% chance of inheriting the disease." -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." "Because this is an X-linked recessive trait, any male children will not be affected." "There are more affected females than males with this particular trait." "There is a good chance all my future children will be affected with this trait."

"Each time I have a child, there is a 25% chance a female child will be a carrier." -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 pregnant client is scheduled for a nuchal translucency scan. Which statement by the client demonstrates understanding of the nurse's teaching about this procedure? "If this scan is positive, we will need further testing to confirm a diagnosis." "The advantage of this scan is that it can be done before 8 weeks' pregnancy, so we will have results very early." "This scan will determine if our baby has any anomalies." "We can also determine the baby's biologic sex from this scan."

"If this scan is positive, we will need further testing to confirm a diagnosis." -Nuchal translucency scan is an ultrasound that measures fluid collection in the subcutaneous space between the skin and cervical spine of the fetus, done at 10 to 14 weeks' gestation. This test screens for fetal anomalies; abnormal fluid collection can be associated with genetic disorders (trisomies 13, 18, and 21), Turner syndrome, cardiac deformities, and/or physical anomalies. Further testing would be required to confirm a diagnosis. This scan does not determine the sex of the fetus.

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? "You always have the option to adopt a child if you are really wanting to become parents." "To still have a child of your own, you should consider asking a friend or family member to be a surrogate." "The health care provider can refer you for a second opinion if you are not happy with these results." "If you would like to discuss this further, here is the contact information for the genetic counseling center."

"If you would like to discuss this further, here is the contact information for the genetic counseling center." -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.

The nurse has completed an education program on genetic counseling. Which statement by a participant suggests a need for further education? "My husband is 45 years old; I guess we need to see a genetic counselor before we try to get pregnant." "I have had three miscarriages. I should see a genetic counselor before I try to get pregnant again." "I will not need genetic counseling based on my age since I am only 31." "My older child was born with Down syndrome so I need to see a genetic counselor before I get pregnant again."

"My husband is 45 years old; I guess we need to see a genetic counselor before we try to get pregnant." -Genetic counseling is suggested for maternal age greater than 35 years and paternal age greater than 50 years, not 45 years. It is also suggested for the following: a previous child, parents, or close relatives with an inherited disease, congenital anomalies, metabolic disorders, developmental disorders, chromosomal abnormalities, two or more pregnancy losses and for a child with developmental delay or intellectual impairment.

A 25-year-old woman who underwent genetic testing has learned that she is heterozygous dominant for Huntington disease. Her male partner, however, who also underwent the testing, is free from the trait. What statement by the woman would indicate an understanding of the risk of their child developing Huntington disease? "Each of our children has a 75% chance of developing Huntington disease." "Since my partner does not carry the trait and I do, there is a 50% chance that each of our children will either carry the trait or develop the disease." "Since one of us carries the trait and the other does not, there is a 25% chance each of our children will be a carrier of the trait." "Because I am heterozygous dominant and my partner is not, each of our children will not develop or be a carrier of the disease."

"Since my partner does not carry the trait and I do, there is a 50% chance that each of our children will either carry the trait or develop the disease." -Huntington disease is inherited in an autosomal dominant manner. This means that a person with the mutation in only one of the two copies of the gene will have the condition. This client is heterozygous dominant. Her male partner has no copies of the mutated gene. Thus, each of the couple's children has a 50% chance to have Huntington disease and a 50% chance to be a carrier of the disease.

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? "The insurance company may ask you to change policies once the baby is born." "There are laws in place that prohibit that from happening." "They will charge you a higher premium every month." "The insurance company may consider it a preexisting condition since you know."

"There are laws in place that prohibit that from happening." -The Genetic Information Nondiscrimination Act of 2008 prohibits insurance companies from denying coverage or charging higher premiums based solely on genetic predisposition.

When describing to parents at a genetic counseling session the probability of their newborn inheriting cystic fibrosis, the nurse would include which statement? Select all that apply. "There is a 50% chance of inheriting one normal gene and one abnormal gene." "Cystic fibrosis is an inherited disorder where two abnormal genes are needed." "Cystic fibrosis is a multifactorial inherited disorder mainly caused by the environment." "Cystic fibrosis is an X-linked inheritance when the male is a carrier." "Children of two carriers of the disorder have a 25% chance of inheriting two normal genes."

"There is a 50% chance of inheriting one normal gene and one abnormal gene." "Cystic fibrosis is an inherited disorder where two abnormal genes are needed." "Children of two carriers of the disorder have a 25% chance of inheriting two normal genes." -Autosomal recessive inherited disorders occur when two copies of the abnormal gene are necessary to demonstrate signs and symptoms of the disorder. Both parents of the affected person must be carriers of the gene. Offspring of two carriers of the abnormal gene have a 25% chance of inheriting two normal genes, a 50% chance of inheriting one normal gene and one abnormal gene (carrier), and a 25% chance of inheriting two abnormal genes. Common types of genetic disorders that follow the autosomal recessive inheritance pattern include cystic fibrosis. The X-link and multifactorial inheritance disorders do not correlate to cystic fibrosis.

The pregnant client at 6 weeks' gestation asks the nurse if an ultrasound will reveal the sex of the fetus yet. What is the best response by the nurse? "We will have to wait until the baby is 20 weeks' gestation to determine the sex of the baby." "We will have to wait until the baby is 16 weeks' gestation to determine what the sex is." "We will be able to determine the sex of the baby today with transvaginal ultrasound." "We will have to wait until the baby is 8 weeks' gestation to be able to determine what the sex is."

"We will have to wait until the baby is 16 weeks' gestation to determine what the sex is." -The sex of the baby can be determined by ultrasound at 16 weeks' gestation. An ultrasound at 6 and 8 weeks would be too early to determine the sex. An ultrasound at 20 weeks should confirm what was found at 16 weeks.

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." "You need to be sure you want to know this information before you think about being tested." "When you have ultrasounds done, they look for signs of Down syndrome." "Of course. The primary health care provider can prescribe a DNA analysis for this."

"Yes, a chromosomal analysis can be done to assess for Down syndrome." -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.

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 A female client diagnosed with diabetes mellitus A male client who is 45 years of age A female client who is 38 years of age

A male client with family history of sickle cell disease -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 client is undergoing genetic testing and counseling. What is the responsibility of the nurses during this process? Explain the results of the testing to the client. Share with the client the nurse's opinion when asked. Notify insurance companies of test results. Clarify values and goals for the couple.

Clarify values and goals for the couple. -Nurses can help clients clarify values and goals, assess understanding of information, protect clients' rights, and support a client's decisions. Notifying insurance companies of test results and giving the client a personal opinion, even when asked, is unethical on the part of the nurse. The nurse can ensure the client understands the results, but the nurse should not explain the results of the test to the client; this is the primary health care provider's role.

A nurse is caring for a pregnant client at 6 weeks' gestation whose previous child had trisomy 13 and died shortly after birth. The family expresses concern that this child will also be affected. How should the nurse advise this family? Ensure they are aware that, if this child is affected, they can terminate the pregnancy. Discuss options for genetic screening in this pregnancy to determine if the fetus is affected. Explain that there is only a 25% chance of this pregnancy being affected. Refer the family to grief counseling for support during this pregnancy.

Discuss options for genetic screening in this pregnancy to determine if the fetus is affected. -Genetic testing will be offered to this family to determine if this fetus is affected. Termination may be an option if the fetus is affected and termination is desired, but the family should initially be informed of screening/testing options. Trisomy 13 is a spontaneous, not a heritable, genetic anomaly that results from three copies of the 13th chromosome. Grief counseling may be provided if needed, but the nurse should first address the current pregnancy.

When counseling potential parents about genetic disorders, which statement would be appropriate? Environmental influences may affect multifactorial inheritance. Genetic disorders primarily follow Mendelian laws of inheritance. All genetic disorders involve a similar number of abnormal chromosomes. The absence of genetic disorders in both families eliminates the possibility of having a child with a genetic disorder.

Environmental influences may affect multifactorial inheritance. -It is difficult to predict with certainty the incidence of genetic disorders because in some disorders, more than one gene is involved and environmental insults may play a role (cleft palate, for example).

A pregnant client is diagnosed with hydramnios. The nurse explains that further testing will be done to determine if which conditions are present? Select all that apply. Anuria Esophageal atresia Anencephaly Fetal hypoxia Renal atresia

Esophageal atresia Anencephaly -Hydramnios or excessive amniotic fluid is found when the fetus has a condition such as esophageal atresia or anencephaly, which inhibit swallowing. Renal atresia or renal conditions that decrease urine production results in oligohydramnios. The volume of amniotic fluid protects the umbilical cord from pressure thus protecting the fetal oxygen supply.

At a prenatal checkup with a client at 7 weeks' gestation, the nurse would identify what as a normal finding? Quickening is detected by the mother. The fetus would have a startle reflex. Gender identity is determined with ultrasound. Fetal heart sounds are heard.

Fetal heart sounds are heard. -Although the heart is not fully developed, it begins to beat at week 5, and a regular rhythm and can be heard at week 7. Quickening is felt around week 13. Gender identity can be determined at weeks 9 to 12. The startle reflex can be seen around weeks 21 to 24.

A nursing instructor is explaining the stages of fetal development to a group of nursing students. The instructor determines the session is successful after the students correctly choose which time period as representing the pre-embryonic stage? From fertilization to the end of the second week after fertilization Approximately 9 weeks after fertilization to birth Approximately 2 weeks after fertilization to the end of the eighth week Approximately 6 weeks after fertilization to the end of 8 weeks

From fertilization to the end of the second week after fertilization -The pre-embryonic stage begins at fertilization and lasts through the end of the second week after fertilization. The embryonic stage begins approximately 2 weeks after fertilization and ends at the conclusion of the eighth week after fertilization. The fetal stage begins at 9 weeks after fertilization and ends at birth. There is no distinct stage recognized approximately 6 to 8 weeks after fertilization. This is part of the embryonic stage period.

A couple wants to start a family. They are concerned that their child will be at risk for cystic fibrosis because they each have a cousin with cystic fibrosis. They are seeing a nurse practitioner for preconceptual counseling. What would the nurse practitioner tell them about cystic fibrosis? It is an X-linked inherited disorder. It is an autosomal recessive disorder. It is passed by mitochondrial inheritance. It is an autosomal dominant disorder.

It is an autosomal recessive disorder. -Cystic fibrosis is autosomal recessive. Nurses also consider other issues when assessing the risk for genetic conditions in couples and families. For example, when obtaining a preconception or prenatal family history, the nurse asks if the prospective parents have common ancestors. This is important to know because people who are related have more genes in common than those who are unrelated, thus increasing their chance for having children with autosomal recessive inherited condition such as cystic fibrosis. Mitochondrial inheritance occurs with defects in energy conversion and affects the nervous system, kidney, muscle, and liver. X-linked inheritance, which has been inherited from a mutant allele of the mother, affects males. Autosomal dominant is an X-linked dominant genetic disease.

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? It will reassure you to find out if the baby had anomalies that were not compatible with life. This testing will help to determine if your hormone levels are causing the recurrent spontaneous abortions (miscarriages). Many spontaneous abortions (miscarriages) occur due to chromosomal disorders and this testing may determine if this is the cause. If you do not want to have this testing done, we will respect that decision.

Many spontaneous abortions (miscarriages) occur due to chromosomal disorders and this testing may determine if this is the cause. -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.

A client's older child has sickle-cell anemia, an autosomal recessive disorder. The client is now pregnant with a new partner and asks about the chances of this child having sickle-cell anemia. How does the nurse respond? Sickle-cell anemia is a recessive gene, so the child will be affected only if your new partner also carries this gene. You will need to check with your health care provider about this question. Because you are a sickle-cell gene carrier, the child has a 50% chance of being affected. Because this child is female, the child will not be affected by sickle-cell anemia.

Sickle-cell anemia is a recessive gene, so the child will be affected only if your new partner also carries this gene. -Autosomal recessive disorders, such as sickle-cell anemia, are inherited when both parents are carriers of the gene. They are not sex-linked. Because this pregnancy is with a new partner, inheritance of the disorder is only possible if the new partner is also a carrier of this gene.

When describing the characteristics of the amniotic fluid to a pregnant woman, the nurse would include which information? It is usually an acidic fluid. The amount gradually fluctuates during pregnancy. It limits fetal movement in utero. It is composed primarily of organic substances.

The amount gradually fluctuates during pregnancy. -Amniotic fluid is alkaline. Amniotic fluid is composed of 98% water and 2% organic matter. Amniotic fluid volume gradually fluctuates throughout pregnancy. Sufficient amounts promote fetal movement to enhance musculoskeletal development.

A baby is born with what the primary care provider believes is a diagnosis of trisomy 21. This means that the infant has three number 21 chromosomes. What factor describes this genetic change? The client will have a single X chromosome and infertility. The client has a nondisjunction occurring during meiosis. The mother also has genetic mutation of chromosome 21. During meiosis, a reduction of chromosomes resulted in 23.

The client has a nondisjunction occurring during meiosis. -During meiosis, a pair of chromosomes may fail to separate completely, creating a sperm or oocyte that contains either two copies or no copy of a particular chromosome. This sporadic event, called nondisjunction, can lead to trisomy. Down syndrome is an example of trisomy. The mother does not have a mutation of chromosome 21, which is indicated in the question. Also, trisomy does not produce a single X chromosome and infertility. Genes are packaged and arranged in a linear order within chromosomes, which are located in the cell nucleus. In humans, 46 chromosomes occur in pairs in all body cells except oocytes and sperm, which contain only 23 chromosomes.

What physiologic changes occur after birth when the cord is cut and clamped? The ductus ovale closes over the next 2 to 3 days. The infant takes its first breath and the lungs expand to increase blood oxygen levels. The oxygenated blood coming from the placenta is diverted around the liver through the ductus venosus. The placenta is immediately expelled.

The infant takes its first breath and the lungs expand to increase blood oxygen levels. -As the infant takes its first breath, the pulmonary resistance decreases and blood flow increases to the lungs, resulting in increased oxygenation of the infant's blood. The ductus venosus and the ductus arteriosus close, not the ductus ovale. The foramen ovale normally closes when the pressure gradient in the heart shift from higher pressure on the right side to higher pressure on the left side of the heart. The placenta is not immediately expelled once the infant takes its first breath.

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. This is the second marriage for the 48-year old father. The mother is from a larger family, including seven brothers and three sisters. The mother expresses concern about her stepchildren accepting the baby.

The mother just turned 39 years of age. -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 nursing instructor is illustrating the circulatory flow between the mother and fetus. The instructor determines the session is successful when the class correctly chooses which structure with which route? The one umbilical vein carries oxygen-rich blood to the fetus from the placenta. The one umbilical artery carries oxygen-rich blood to the fetus from the placenta. The two umbilical veins carry waste products from the fetus to the placenta. The two umbilical arteries carry waste products from the placenta to the fetus.

The one umbilical vein carries oxygen-rich blood to the fetus from the placenta. -There are two umbilical arteries and one umbilical vein. The arteries carry waste from the fetus to the placenta; the vein carries oxygenated blood to the fetus from the placenta.

How does fetal circulation differ from circulation after birth? The ductus arteriosus carries the majority of the blood circulating from the left atrium to the left ventricle directly to the aorta. The umbilical vein carries oxygenated blood, while deoxygenated blood is carried by the umbilical arteries. In utero, blood through the pulmonary artery is only 50% of the post-delivery blood flow. Fetal blood flow bypasses the right atrium and goes directly to the right ventricle.

The umbilical vein carries oxygenated blood, while deoxygenated blood is carried by the umbilical arteries. -The umbilical vein carries oxygenated blood from the placenta to the fetus and the deoxygenated blood is returned to the placenta by the two umbilical arteries, whereby in circulation after delivery, oxygenated blood is carried by arteries and deoxygenated blood is carried by veins. The blood flow through the pulmonary artery is approximately 10% of the post-delivery blood flow due to high pulmonary vascular resistance in utero. The ductus arteriosus carries blood from the pulmonary artery to the aorta, not the blood coming from the left ventricle.

A client is confused concerning her fertile period each month. The nurse would educate the client by providing which information? Since a sperm can only live 12 to 24 hours after ejaculation, fertility is limited to 1 day before to 1 day after ovulation. Fertilization can occur only if intercourse occurs on the day of ovulation. The window of opportunity for conception is from 3 days before to 2 days following ovulation. The female fertility period is from Day 12 to Day 21 of her menstrual cycle.

The window of opportunity for conception is from 3 days before to 2 days following ovulation. -Since sperm are viable for 24 to 72 hours after ejaculation and the ovum remains fertile for a maximum of 48 hours after ovulation, the window is from 3 days before to 2 days after ovulation.

A nurse is caring for a 32-year-old Jewish client who is pregnant with a female baby. The parents are not directly related by blood. The mother reports that her husband's cousin had an infant born with Tay-Sachs disease that died two years ago and she is concerned about her baby. Which information should the nurse need to give this client regarding her baby having the same disease? There is a risk to the baby based upon the Jewish background, so genetic testing would be recommended. There is no risk of Tay-Sachs disease because the parents are not related by blood. Tay-Sachs disease affects only male infants so there is no problem with her baby. The age of the client increases the susceptibility of the baby to Tay-Sachs disease.

There is a risk to the baby based upon the Jewish background, so genetic testing would be recommended. -Tay-Sachs disease affects both male and female babies. The age of the client does not significantly increase the risk of Tay-Sachs disease. Even though the client and her husband are not related by blood, their Jewish background/heritage places their baby at a greater risk. There is a chance that the offspring may have Tay-Sachs disease even if both parents don't have it because they could be carriers, so genetic testing would be advisable.

A woman with both heart disease and osteoarthritis has come to the genetics clinic for genetic screening. What would the nurse know about these two diseases? They are caused by a single gene. They are multifactorial. They do not have a genetic basis. They are a direct result of the client's lifestyle.

They are multifactorial. -Genomic or multifactorial influences involve interactions among several genes (gene-gene interactions) and between genes and the environment (gene-environment interactions), as well as the individual's lifestyle.

A female client desires preconception genetic counseling because the client has a brother with Duchenne muscular dystrophy, an X-linked recessive genetic disorder. How does the nurse bestexplain the genetics of this disorder to this client? Because only males are affected by this disorder, you may be offered assisted reproduction to ensure a female child. Passing on Duchenne muscular dystrophy is only a concern if your partner's family also has a history of this disease. This gene is usually carried by the mother, and there is a 50% chance that you are a carrier. The gene for Duchenne muscular dystrophy does not yet have a test available, so diagnosis is based on symptoms and family history.

This gene is usually carried by the mother, and there is a 50% chance that you are a carrier. -X-linked recessive inheritance involves a mutation in a gene on the X chromosome. This causes the disease to always be expressed in males (who are homozygous for the gene mutation because they have one X and one Y chromosome). Females with one copy of the mutated gene are carriers. This client's mother was most likely a carrier (though spontaneous mutations are also possible), and the client has a 50% chance of being a carrier of this gene mutation.

A mother has come to the clinic with her 13-year-old daughter to find out why she has not started her menses. After a thorough examination and history, genetic testing is prescribed to rule out which abnormality? Turner syndrome cri du chat syndrome Klinefelter's syndrome fragile X syndrome

Turner syndrome -Turner syndrome is a common abnormality of the sex chromosome in which a portion or all of the X chromosome is missing. Only about one third of the cases are diagnosed as newborns; the remaining two thirds are diagnosed in early adolescence when they experience primary amenorrhea. No cure exists for this syndrome. Hormone replacement therapy may be used to induce puberty.

A 40-year-old client is in her 10th week of pregnancy. So far, her pregnancy appears to be healthy, with no abnormal results from standard diagnostic tests. Because of her age, however, the nurse would anticipate that the client is a candidate for which diagnostic tests? Select all that apply. nuchal translucency screening cell-free DNA testing chorionic villus sampling amniocentesis maternal serum screening

chorionic villus sampling amniocentesis -Chorionic villus sampling (CVS), amniocentesis, and cell-free DNA testing are all techniques that may be offered to women who are older than 35 years of age, or to those whose triple/quadruple screen is abnormal, to further screen for genetic disorders. CVS is generally performed 10 to 13 weeks after the LMP. Women of all ages are offered routine sonogram screening (a nuchal translucency scan) and analysis of maternal serum levels of alpha-fetoprotein (MSAFP) by a quadruple screen early in pregnancy to evaluate for neural tube, abdominal wall, or chromosomal disorders in the fetus.

The nurse is caring for a child with Down syndrome (trisomy 21). This is an example of which type of inheritance? chromosome nondisjunction Mendelian dominant Mendelian recessive phase 2 atrophy

chromosome nondisjunction -Down syndrome occurs when an ovum or sperm cell does not divide evenly, permitting an extra 21st chromosome to cross to a new cell.

For which client is preimplantation genetic diagnosis (PGD) a viable option? client who had a miscarriage at 15 weeks' gestation client whose partner has cystic fibrosis client who is currently 32 years of age client in the second week of pregnancy

client whose partner has cystic fibrosis -Preimplantation genetic diagnosis (PGD) is a viable option when either parent is a carrier of a genetic disorder. It is also an option when the mother is of advanced maternal age or has a history of multiple miscarriages. PGD is not a viable option for pregnant clients.

A nurse working in the newborn nursery hears an innocent murmur on auscultation of a 24-hour-old infant's chest. The nurse recognizes this as most likely the result of which condition? attached umbilical cord stump dysfunctional foramen ovale congenital defect delayed fetal shunt closure

delayed fetal shunt closure -Functional closure of all fetal shunts usually occurs anywhere from the first hour to three to four weeks after birth. These delayed fetal shunt closures are usually not associated with a heart lesion. If they are still present at a later date, evaluation may be warranted.

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 flexed muscle tone presence of acrocyanosis two creases of the palms

ears set below the level of the eyes -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.

The nursing student is preparing a presentation that will illustrate the various stages of fetal development. The student will label which stage as the time when the various tissues of the growing embryo begin to assume specific functions? fetal embryonic post-embryonic pre-embryonic

embryonic -During the embryonic period, the cells multiply and tissues begin to assume specific functions, a process known as differentiation. This stage lasts from the end of the second week after fertilization until the end of the eighth week. The pre-embryonic stage begins with fertilization and lasts for 2 weeks. Cellular division and implantation occur during this stage of development. The fetal stage is from the beginning of the ninth week after fertilization and continues until birth. There is additional growth and maturation of the organs and body systems during this time. There is no post-embryonic stage.

During which stage of fetal development is exposure to teratogens most damaging? pre-embryonic stage embryonic stage fetal stage mitosis stage

embryonic stage -The most sensitive period of fetal development related to teratogens is during the embryonic period when the different body systems are developing. During the pre-embryonic stage, the fetal stage, and the mitosis stage, the risk of teratogenic exposure is not as influential on the fetus.

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? contributes to mammary gland development maintains the endometrial lining of the uterus during pregnancy ensures the corpus luteum of the ovary continues to produce estrogen regulates maternal glucose, protein, and fat levels

maintains the endometrial lining of the uterus during pregnancy -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.

An 18-year-old pregnant woman asks the nurse why she has to have a routine alpha-fetoprotein serum level drawn. The nurse explains that this: tests the ability of her heart to accommodate the pregnancy. may reveal chromosomal abnormalities. is a screening test for placental function. measures the fetal liver function.

may reveal chromosomal abnormalities. -An alpha-fetoprotein analysis is a cost-effective screening test to detect chromosomal and open-body-cavity disorders.

A client has just given birth to a healthy term newborn. Upon assessing the umbilical cord, the nurse identifies what finding(s) as normal? Select all that apply. one vein two arteries two ligaments one artery one ligament two veins

one vein two arteries -The normal umbilical cord contains one large vein and two small arteries. Approximately one out of every 200 cords has only two blood vessels: one artery and one vein. Although these pregnancies may be otherwise normal, this cord variation is associated with a higher rate of congenital abnormalities. The umbilical cord does not contain any ligaments.

A nursing student correctly identifies that a person's outward appearance or expression of genes is referred to as the: allele. genome. genotype. phenotype.

phenotype. -Phenotype refers to a person's outward appearance or the expression of genes. Alleles are two like genes. Genotype refers to his or her actual gene composition. Genome is the complete set of genes present in a person.

A nurse is discussing the importance of good nutrition to a young pregnant client. The nurse would point out that the growing fetus is getting nutrition from the mother via which structure? umbilical arteries amniotic fluid decidua placenta

placenta -The placenta is a flat, round structure which forms on the decidua and attaches to the fetus by the umbilical cord. The placenta is the organ responsible for supplying nutrients and oxygenated blood to the fetus. The amniotic fluid surrounds the fetus and provides protection, temperature regulation, allows movement, and symmetric growth. It collects urine and other waste products from the fetus. The decidua is the name given to the endometrium after the pregnancy starts. The umbilical arteries carry waste products away from the fetus to the placenta, where they are filtered out into the maternal body for proper disposal.

A nurse is providing care to a woman who has just found out that she is pregnant. The nurse is describing the events that have occurred and the structures that are forming. When describing the trophoblast to the client, the nurse would explain that this structure forms: morula. placenta. zygote. fetal membrane.

placenta. -The trophoblast forms the placenta and chorion. The blastocyst forms the embryo and amnion. The zygote is formed from the union of the sperm and ovum. The morula is a mass of 16 cells that develop as cleavage cell division continues after fertilization.