Solution Manual for Olds’ Maternal-Newborn Nursing & Women’s Health Across the Life

Solution Manual for Olds’ Maternal-Newborn

Nursing & Women’s Health Across the Lifespan,
11th Edition, Michele C. Davidson, Marcia London,
Patricia Ladewig,

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Davidson/London/Ladewig, Olds’ Maternal–Newborn Nursing and Women’s Health Across the Lifespan 11th Ed.
Instructor’s Resource Manual

Chapter 10 Reproductive Genetics

Genetic Disorders………………….…………….……………………………………………………. 2

Modes of Inheritance…………….…………….……………………………………………………. 3

Prenatal Diagnostic Tests…………….…………….……………………………………………… 5

Genetic Evaluation…………….…………….……………………………………………………….. 8

Focus Your Study............................................................................................. 9

Activities.......................................................................................................... 9

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Davidson/London/Ladewig, Olds’ Maternal–Newborn Nursing and Women’s Health Across the Lifespan 11th Ed.
Instructor’s Resource Manual

I. Genetic Disorders
A. Desired outcome of pregnancy → birth of healthy, perfect baby
1. Grief, fear, anger → baby born with defect, genetic disease
2. Many questions → nurse to anticipate questions, concerns, direct to appropriate resources,
support family

B. Chromosomes and Chromosomal Analysis

1. All hereditary material → carried on strands of DNA
2. Chromosomes carry genes → smallest unit of inheritance
3. Somatic cells → 46 chromosomes → diploid
4. Sperm and egg → 23 chromosomes, haploid
a) 22 pairs → autosomes (non-sex chromosomes)
b) 1 pair → sex chromosome
(1) See Figure 10–1: Normal female karyotype and Figure 10–2: Normal male karyotype,
p. 192
(2) See Figure 10–5 A. Karyotype of a male who has trisomy 18. B. Infant girl with
trisomy 18, pp. 192, 193
5. Karyotype → pictorial analysis of individual’s chromosomes
a) Chromosomal abnormalities → autosomes, or sex chromosomes
(1) Small alterations can cause problems
6. Abnormalities of chromosome number
a) See Table 10–1: Chromosomal Syndromes, p. 194
b) Most commonly seen as trisomies, monosomies, mosaicism
(1) Nondisjunction
(a) In either sperm or egg → abnormal chromosome makeup in all cells
(b) After fertilization → cells with two or more different chromosome makeup
c) Trisomies → product of union of normal gamete with gamete that contains extra
chromosome
(1) 47 chromosomes → trisomic
(2) Down syndrome most common
(a) Distinctive clinical features
(b) See Figure 10–4: A boy with Down syndrome, p. 193
(3) Trisomy 18, trisomy 13
(a) Prognosis poor → 70% die within first 3 months of life
d) Monosomies → normal gamete unites with gamete missing a chromosome
(1) Monosomy generally incompatible with life
e) Mosaicism → after fertilization → two different cell lines, each having different
chromosomal number
f) Most common with Down syndrome

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Davidson/London/Ladewig, Olds’ Maternal–Newborn Nursing and Women’s Health Across the Lifespan 11th Ed.
Instructor’s Resource Manual

7. Abnormalities of chromosome structure

a) Involve parts of chromosomes → translocations, deletions, duplications
(1) Most Down syndrome children have trisomy 21 → some have abnormal
rearrangement of chromosomal material → translocation
b) Translocation → transfer of segment of one chromosome to another chromosome
(1) Nonhomologous → reciprocal translocation relatively common
(2) Balanced → no deletion or duplication of material
(a) Individual may not have health concern → offspring may have unbalanced
translocation
(3) Unbalanced → chromosome material deleted or duplicated
(a) Pregnancy loss, congenital anomalies, intellectual disability, other health
concerns
(4) Robertsonian translocations → individual has 45 chromosomes
(a) See Figure 10–8: Diagram of various types of offspring …, p. 195
c) Duplication or deletions
(1) Structural abnormality
(2) Any portion of chromosome may be lost or added resulting in some adverse effect
8. Abnormalities of the sex chromosome
a) Early embryonic stage → females: one of two normal X chromosomes becomes inactive
(1) Forms dark-staining area known as the Barr body
(2) Female has one, male has no Barr bodies → he has only one X chromosome
b) Common abnormalities
(1) Turner syndrome in females → 45, X with no Barr bodies present
(2) Klinefelter syndrome in males → 47, XXY, with one Barr body present

C. Modes of Inheritance
1. Two major categories: Mendelian (single-gene) inheritance and non-Mendelian
(multifactorial) inheritance
a) Phenotype → responsible for observable expression of traits → single gene trait
b) Genotype → pattern of genes on chromosomes
c) One of genes for trait from mother, one from father
d) Two identical → homozygous for trait
e) Two different alleles → heterozygous
2. Autosomal dominant inheritance
a) Disease trait is heterozygous, individual inherits disorder
(1) May be familial
(2) De novo mutation
b) Family pedigree may show multiple generations
c) Affected individuals have 50% chance of passing abnormal gene
d) Males and females equally affected
e) Autosomal dominant inherited disorders have varying degrees of presentation
(1) May be difficult to diagnose

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Davidson/London/Ladewig, Olds’ Maternal–Newborn Nursing and Women’s Health Across the Lifespan 11th Ed.
Instructor’s Resource Manual

(a) Penetrance → individual with genetic trait fails to express features of disorder →
reduced penetrance
(b) Expressivity → severity of expression of phenotype
(c) Pleiotropic → single abnormal gene produces diverse phenotypic effects
f) See Figure 10–9: Autosomal dominant pedigree, p. 196
3. Autosomal recessive inheritance
a) Individual must have two abnormal genes to be affected
(1) Carrier → individual is heterozygous for abnormal gene, clinically normal
(2) Two carriers mate → pass on abnormal gene
(a) Affected individual can have clinically normal parents → both carriers
(b) 25% chance abnormal gene passed to any offspring
(c) Each pregnancy 25% chance resulting in affected child
(d) Child or two carrier parents clinically normal → two-thirds chance child is carrier
(e) Both males and females equally affected
(f) Increased history of consanguineous matings
b) Common disorders
(1) Cystic fibrosis
(2) Phenylketonuria (PKU)
(3) Galactosemia
(4) Sickle cell disease
(5) Tay-Sachs disease
(a) See Figure 10–10: Autosomal recessive pedigree, p. 196
4. X-linked recessive inheritance
a) Sex-linked disorders → abnormal gene carried on X chromosome
(1) Manifested in male who carries abnormal gene on his only X chromosome →
hemizygous
(2) Two thirds of the time → mother carrier
(3) Most carrier females do not have symptoms
b) Characteristics
(1) No male–male transmission
(2) 50% chance that carrier mother will pass abnormal gene to each of her sons →
affected
(3) 50% chance that carrier mother will pass normal gene to each of her sons →
unaffected
(4) 50% chance that carrier mother will pass abnormal gene to each of her daughters →
become carriers
(5) Father affected cannot pass disorder to sons → all daughters become carriers
c) Common disorders
(1) Hemophilia
(2) Duchenne muscular dystrophy
(3) Some forms of color blindness

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Davidson/London/Ladewig, Olds’ Maternal–Newborn Nursing and Women’s Health Across the Lifespan 11th Ed.
Instructor’s Resource Manual

5. X-linked dominant inheritance

a) Rare
(1) Most common → vitamin D–resistant rickets
b) Pattern similar to X-linked recessive inheritance except heterozygous females can also be
affected
(1) No male-to-male transmission
c) Some so severe → lethal in utero or newborn period in hemizygous males
(1) Rett syndrome
(2) Severe form of otopalataldigital
6. Trinucleotide repeat disorders
a) Anticipation → trinucleotide repeats during meiosis → gene passed from generation to
generation with a larger and larger number of triplet repeats
b) Associated with phenotypic expression condition
c) Diseases
(1) Huntington disease
(2) Myotonic dystrophy
(3) Fragile X syndrome
7. Multifactorial inheritance
a) Many common malformations → do not follow clear pattern of Mendelian inheritance
(1) Interaction of many genes
(2) Cleft palate
(3) Heart defect
(4) Spina bifida
(5) Dislocated hips
(6) Clubfoot
(7) Pyloric stenosis
b) Characteristics
(1) Malformations may range from mild to severe
(2) Often a sex bias
(a) Pyloric stenosis more common in males, cleft palate more common in females
(b) Greater number of genes present if less commonly affected sex shows condition
(3) Increased risk among closest relatives, multiple family members affected
c) Careful family history
(1) Other disorders within multifactorial inheritance group
(a) Diabetes
(b) Hypertension
(c) Some heart diseases
(d) Mental illness

D. Prenatal Diagnostic Tests

1. Parent–child, family-planning counseling → responsibility of nurses
a) Counseling before prenatal screening, diagnostic testing

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Davidson/London/Ladewig, Olds’ Maternal–Newborn Nursing and Women’s Health Across the Lifespan 11th Ed.
Instructor’s Resource Manual

(1) Include conditions detectable

(2) Diagnostic test available if screen positive
(3) Risk to mother and pregnancy of test
(4) Accuracy of test
(5) Limitations of test
b) Should be available to all women regardless of maternal age
c) Women counseled on difference between screening and invasive diagnostic testing
2. Genetic ultrasound
a) Visualize
(1) Fetal head for abnormalities
(2) Craniospinal defects
(3) Gastrointestinal malformations
(4) Renal malformations
(5) Skeletal malformations
b) Best done at 16 to 20 weeks
c) Nuchal translucency measurement at 10 and 13 weeks → chromosomal abnormalities
3. Maternal serum screening
a) Specific hormones, proteins → risk for Down syndrome, trisomy 18, open spina bifida
b) Nuchal translucency measurement → often added in first trimester
4. Noninvasive prenatal testing (NIPT) through cell-free fetal DNA
a) Measuring circulating cell-free DNA in maternal serum
b) Not meant to replace diagnostic testing such as CVS or amniocentesis
c) Recommended for women of advanced age and women with abnormal fetal ultrasound
findings
5. Genetic amniocentesis
a) Risks
(1) Infection
(2) Miscarriage
(3) < 0.1 to 0.3%
b) Indications
(1) Maternal age 35 or older
(2) Previous child born with a chromosomal abnormality
(3) Parent carrying a chromosomal abnormality (balanced translocation)
(4) Mother carrying an X-linked disease
(5) Both parents carrying an autosomal recessive disease
(6) Family history of neural tube defects
(7) Fetus with major or minor abnormalities on ultrasound
(8) Women with positive serum screening results, including NIPT
c) See Figure 10–12: A. Genetic amniocentesis for prenatal diagnosis …, p. 199
6. Percutaneous umbilical cord sampling and chorionic villus sampling (CVS)
a) Percutaneous umbilical cord sampling (PUBS)

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Davidson/London/Ladewig, Olds’ Maternal–Newborn Nursing and Women’s Health Across the Lifespan 11th Ed.
Instructor’s Resource Manual

(1) Blood obtained from umbilical cord during pregnancy

(2) More rapid chromosome diagnosis
(3) Transfusion for Rh alloimmunization or hydrops fetalis
(4) Risk of pregnancy complication higher then CVS
b) Chorionic villus sampling (CVS)
(1) Obtains chorionic villi tissue either transabdominally or transcervically
(2) Diagnostic capability similar to amniocenteses
(3) Advantage → information available at 10 to 12 weeks’ gestation
c) Risks
(1) Infection
(2) Pregnancy loss
(3) Estimated 1%
7. Nursing Management for the Woman with Possible Risk Factors for Genetic Disorders
a) See Key Facts to Remember: Couples Who May Benefit from Preconceptual or Prenatal
Genetic Counseling, p. 201
(1) Women age 35 or older at time of birth
(2) Couples with a balanced translocation
(3) Family history of known or suspected single-gene disorder
(4) Couples with a previous pregnancy or child with chromosomal abnormality
(5) Couples in which either partner or a previous child is affected with or in which both
partners are carriers for a diagnosable metabolic disorder
(6) Family history of birth defects and/or intellectual disability
(7) Ethnic groups at increased risk for specific disorders
(8) Couples with a history of three or more first trimester spontaneous abortions
(9) Women with an abnormal maternal serum screening test
(10) Women with a teratogenic risk secondary to an exposure or maternal health
condition
b) Counseling precedes any procedure for prenatal diagnosis
c) Couple may decide to interrupt pregnancy
d) Can give parents opportunity to prepare for a child with special needs
e) Every pregnancy 3% to 5% risk of infant with birth defect
8. Newborn screening
a) Hearing loss, congenital heart disease, hemoglobinopathies, certain endocrine diseases,
and other inherited genetic diseases
b) State-level program
9. Postnatal diagnosis
a) Genetic disorders often discussed in newborn period
(1) Anomalies, does not progress → genetic evaluation
b) Incorporate:
(1) Complete and detailed histories → determine if problem prenatal, postnatal, familial
in origin
(2) Thorough physical and dysmorphology examination by trained clinical geneticist

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Davidson/London/Ladewig, Olds’ Maternal–Newborn Nursing and Women’s Health Across the Lifespan 11th Ed.
Instructor’s Resource Manual

(3) Laboratory analysis → includes chromosome analysis, enzyme assay for inborn
errors of metabolism, DNA studies, antibody titers for infectious teratogens
c) Human Genome Project → implications for identification, management of inherited
diseases
(1) Ethical considerations

E. Genetic Evaluation
1. Communication →
a) Helps family, individual → understand, adapt to implications of genetic contributions to
disease
2. Referral advised for
a) Congenital abnormalities, including intellectual disability
b) Familial disorders
c) Known inherited diseases
d) Metabolic disorders
e) Chromosomal abnormalities
3. Process
a) Form for family pedigree
(1) See Figure 10–13: Screening pedigree, p. 201
b) Initial session
(1) Counselor gathers additional information
(a) Affected child’s growth and development
(b) Family’s understanding of problem
(c) Ethnic background
(i) See Developing Cultural Competence: Genetic Screening Recommendations
for Various Ethnic Groups, p. 203
(2) Child given physical examination
(3) Other family members may be examined
(4) Laboratory studies, if any, done at this time
c) Follow-up counseling
(1) After data examined and analyzed
(2) Parents given all information available
(3) Discuss course of action appropriate for the family
(4) See Key Facts to Remember: Nursing Responsibilities in Genetic Evaluation and
Counseling, p. 204
(a) Identify families at risk for genetic problems
(b) Determine how the genetic problem is perceived and what information is desired
before proceeding
(c) Assist families in acquiring information about the specific problem
(d) Act as liaison between family and genetic counselor
(e) Assist the family in understanding dealing with information received
(f) Provide information on support groups

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Solution Manual for Olds’ Maternal-Newborn Nursing &#038; Women’s Health Across the Life

Davidson/London/Ladewig, Olds’ Maternal–Newborn Nursing and Women’s Health Across the Lifespan 11th Ed.
Instructor’s Resource Manual

(g) Aid families in coping with this crisis

(h) Provide information about known genetic factors
(i) Ensure continuity of nursing care to the family
4. Nursing Management for the Family Undergoing Genetic Evaluation
a) Key role in preventing recurrence
b) Inform parents genetic counseling is available
c) Answer additional questions
d) Attend counseling sessions
e) Act as liaison between family and genetic counselor

II. Focus Your Study

III. Activities
1. Individual
Have students prepare a screening pedigree for a patient. Instruct students to include two
preceding generations.
2. Small Group
Divide the class into small groups of three to five students. Have each group prepare a patient
teaching plan for one of the following:
a. Following basal body temperature (BBT)
b. Hysterosalpingography
c. Therapeutic insemination
d. Transvaginal ultrasound
e. Amniocentesis
f. Maternal serum alpha-fetoprotein
g. In vitro fertilization
3. Large Group
Invite a nurse from a fertility clinic or a genetic counselor to talk to the students about specific
nursing care of their patients.

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