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Chapter 10 and 51
Fetal Development and Genetics
Care of a child with a Genetic Disorder
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Key Terms !llele
"lastocyst
#uctus $enosus #uctus arteriosus
%mryonic 'tage
(ertili)ation
(etal stage
(oramen *$ale
+ene
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Key Terms
,norn errors o- .etaolism
+enotype .utation
Phenotype
Placenta
Preembryonic Stage
Homozygous
Heterozygous
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Key Terms
osaicism
onosomies orula
!risomies
!risomy "# !urner$s Syndrome
Fragile %
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Stages of Fetal Development
/reemryonic stage -ertili)ation through 2n week
(ertili)ation clea$age morula
"lastocyst an tropholast 4"o5 10617
,mplantation
%mryonic stage en o- 2n week through 8th week
"asic structures o- ma9or oy organs an maine5ternal -eatures 4:ale 10617
(etal stage en o- the 8th week until irth 4:ale 10617
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Embryonic Layers
%ctoerm -orms the central ner$ous system; specialsenses; skin an glans
.esoerm -orms skeletal; urinary; circulatory; anreproucti$e organs
%noerm -orms respiratory system; li$er; pancreas; an
igesti$e system
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Fnctions of the !lacenta
'er$ing as the inter-ace etween the mother an -etus
.aking hormones to control the physiology o- the mother /rotecting the -etus -rom immune attack y the mother
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"ormones !rodced by the !lacenta
hCG
Human placental lactogen &hP'( or humanchoronic somatomammotropin &hCS(
)strogen
Progesterone
*ela+in
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#mbilical Cord
Formed from the amnion
'ifeline from the mother to the growing embryo Contains one large vein and two small arteries
,harton$s -elly surrounds the vein and arteries toprevent compression
.t term/ the average umbilical cord is "" inches longand about # inch wide
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$ole of %mniotic Flid
Helps maintain a constant oy temperature -or the -etus
/ermits symmetric growth an e$elopment Cushions the -etus -rom trauma
!llows the umilical cor to e relati$ely -ree o-compression
/romotes -etal mo$ement to enhance musculoskeletale$elopment
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Fetal Circlation
0lood from the placenta to and through the fetusand then bac1 to placenta &see Figure #234(
!hree shunts during fetal life5
6 Ductus venosus5 connects the umbilical vein tothe inferior vena cava
6 Ductus arteriosus5 connects the main pulmonary
artery to the aorta
6 Foramen ovale5 anatomic opening between theright and left atrium
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Fetal Circlation
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&nheritance +enes ini$iual units o- hereity o- all traits
*rgani)e into long segments o- eo5yrionucleic aci4#=!7 that occupies a speci-ic location on a chromosome
#etermination o- a particular characteristicin an organism physical an mental characteristics o-humans
! chromosome long; continuous stran o- #=! carryinggenetic in-ormation
Karyotype pictorial analysis o- numer; -orm; an si)e o-chromosomes
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Karyotype
Pictorial analysis of number/ form/ and size of anindividual$s chromosomes
Commonly uses white blood cells and fetal cells inamniotic fluid
Chromosomes are numbered from largest to
smallest/ # to ""/ with se+ chromosomes designatedby % and 7
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Karyotype
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!atterns of &nheritance
.enelian or .onogenic #isorers
!utosomal #ominant ,nheritance
!utosomal ?linke ,nheritance
>?linke ?linke #ominant ,nheritance
.ulti-actorial #isorers
=ontraitional ,nheritance
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%tosomal Dominant &nheritance
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%tosomal Dominant 'enetic Disorders
8eurofibromatosis
Huntington disease
.chondroplasia
Polycystic 1idney disease
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%tosomal $ecessive &nheritance
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%tosomal $ecessive 'enetic Disorders
Cystic fibrosis
Phenyl1etonuria
!ay9Sachs
Sic1le cell disease
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()lin*ed $ecessive &nheritance
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()Lin*ed $ecessive 'enetic Disorders
Hemophilia
Color blindness
Duchenne muscular dystrophy
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()lin*ed Dominant &nheritance
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Fragile ( Syndrome
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+ehavioral !roblems %ssociated ,ithFragile ( Syndrome
.ttention deficits
Hand flapping and biting
Hyperactivity
Shyness and social isolation
'ow self9esteem
Gaze aversion
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-ltifactorial 'enetic Disorders
Cleft lip and cleft palate
Spina bifida
Pyloric stenosis
Clubfoot
Congenital hip dysplasia
Cardiac defects
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Cleft lip and Cleft palate
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Clbfoot
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!yloric stenosis
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Congenital hip dysplasia
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.estion
:s the following statement !rue or False;
ales are more commonly affected by %9lin1edrecessive disorders3
a3 !rue
b3 False
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%ns/er
a6 :rue
.ost >?linke isorers emonstrate a recessi$e pattern o-inheritance; an males are more commonly a--ecteecause a male has only one > chromosome an all thegenes on his > chromosome will e e5presse6
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Chromosomal %bnormalities !normalities o- Chromosome =umer
.onosomies trisomies
/olyploiy
!normalities o- Chromosome 'tructure
#eletions
,n$ersions
:ranslocations
'e5 Chromosome !normalities
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Types of Chromosomal %bnormalities
Structural abnormalities
6 Cri du chat syndrome6 Fragile % syndrome
Se+ chromosome abnormalities
6 !urner syndrome
6
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rsing $oles and $esponsibilities 0eginning the preconception counseling process and
referring for further genetic information
!a1ing a family history
Scheduling genetic testing
)+plaining the purposes/ ris1s=benefits of allscreening and diagnostic tests &see 'aboratory and
Diagnostic !ests #23#(
.nswering >uestions and addressing concerns
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rsing $oles and $esponsibilitiescont2d34
Discussing costs/ benefits/ and ris1s of using healthinsurance/ and potential ris1s of discrimination
*ecognizing ethical/ legal/ and social issues
Safeguarding privacy and confidentiality
onitoring emotional reactions after receivinginformation
Providing emotional support
*eferring to appropriate support groups
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Significant Findings in -edical "istory of aChild ,ith a 'enetic Disorder
aternal age older than ?@ years or paternal age older than @2
*epeated premature births/ breech delivery
Congenital hip dysplasia
.bnormalities found on ultrasound or in prenatal bloodscreening tests
.mniotic fluid abnormalities
ultiple births
)+posure to medications and 1nown teratogens
Decreased fetal movement
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Do/ns Syndrome
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Trisomy 1 Do/n Syndrome4
Cause
6 Presence of all or part of an e+tra "#st chromosome
Characteristics
6 Some degree of intellectual disability
6 Characteristic facial features
6 Ather health problems &e3g3/ cardiac defects/ visualand hearing impairment/ intestinal malformations/and an increased susceptibility to infections(
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Trisomy 1Do/n Syndrome4
D%5 Aften d+ prenatally with prenatal screening e+ams
a(.minocentisis
b(Chorionic Billi Sampling
c(!riple=>uadruple screen
:f not d+ prenatally common physical characteristics aid
in the d+ within the first few days of life 3 S)) 0A% @#3?
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Laboratory and Diagnostic Tests for Do/nSyndrome
)chocardiogram5 to detect cardiac defects
Bision and hearing screening5 to detect vision andhearing impairments
!hyroid hormone level5 to detect thyroid disease
Cervical radiographs5 to assess for atlantoa+ial instability
ltrasound5 to assess for gastrointestinal malformations
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Do/n Syndrome "ealth Care 'idelines
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.dapted from .merican .cademy of Pediatrics/http5==aappolicy3aappublications3org=cgi=content=full=pediatrics#2E="="
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Trner2s Syndrome
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!hysical Characteristics of TrnerSyndrome
,ebbed nec1
Short stature
'ow posterior hairline
,ide9spaced nipples
)dema of the hands and feet
.menorrhea
8o development of secondary se+ characteristics
Sterility
Perceptual and social s1ill difficulties
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rsing -anagement
Support Family
8eed to understand that short stature and infertilityare li1ely3
:ntellectual disability is unli1ely/ but some learningdisabilities may be present3
)mphasize that with medical supervision and support/ girlswith !urner syndrome may lead healthy satisfying lives3
!urner Syndrome Society of the nited States
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&nborn Errors of -etabolism and%ssociated 6dor
.dapted from *ezvani/ :3 &"22E(3 .n approach to inborn errors of metabolism3 :n *3 3
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&nborn Errors of -etabolism
!K#9 deficiency in a liver enzyme leading to the inability toprocess the essential amino acid phenylalanine properly3!he accumulation of this amino acid leads to brain damageunless P
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!K#
anagement 6 low pheylalanine diet which is found
mostly in protein containing foods such as meat andmil1& including breast mil1 and formula(
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'alactosemia
Deficiency in the liver enzyme needed to convertgalactose/ the brea1down product of lactose/ which is
commonly found in dairy products/ into glucose3Galactose accumulation leads to damage to vital organs3
:ncidence5 less than # in @2/222
Clinical manifestations5 8o symptoms at birth3 :f
undiagnosed/ 80 will have -aundice/ diarrhea andvomiting and will not gain weight3 :f untreated can leadto liver disease/ blindness/ severe intellectual disabilityand death3
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'alactosemia
anagement9 :ngestion of galactose can produce sepsisin the affected child therefore/ septic wor19up and
antibiotics may be necessary in a child if galactosein-ection has occurred3
)limination of galactose and lactose from the diet is theonly treatment3 !herefore/ mil1 and dairy products will beeliminated for life3
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.estion
!he nurse is assessing a child for a genetic disorder andnotes that a musty odor emanates from the child3 ,hat
disorder would the nurse suspect;a3 phenyl1etonuria
b3 maple syrup urine disease
c3 tyrosinemia
d3 trimethylaminuria
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%ns/er
a3 phenyl1etonuria3 . musty odor emanating from thechild is associated with phenyl1etonuria3
*ationale5 . maple syrup odor is associated with maplesyrup urine disease/ a cabbage9li1e odor is associatedwith tyrosinemia/ and a rotting fish smell is associatedwith trimethylaminuria3
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$evie/
.fter teaching a group of students about fertilization/ theinstructor determines that the teaching was successful
when the group identifies which as the usual site offertilization;
a3 Fundus of the uterus
b3 )ndometrium of the uterus
c3 Distal portion of fallopian tube
d3 Follicular tissue of the ovary
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$evie/
!he correct response to this >uestion is C/ because scientistshave determined that conception=fertilization occurs in theupper portion of the fallopian tube3 . is an incorrect response
because this is where implantation ta1es place afterfertilization has occurred3 0 is an incorrect response becausethis describes the inner lining of the uterus/ whereimplantation ta1es place not where fertilization of the ovumand sperm occur3 D is an incorrect response because the spermdoes not travel outside the fallopian tube to the ovary/ butrather meets the ovum for purposes of fertilization in thefallopian tube
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$evie/
. client comes to the clinic for pregnancy testing3 !henurse e+plains that the test detects the presence of
which hormone; a3 hP'
b3 hCG
c3 FSH
d3 !SH
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$evie/
09 hCG
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$evie/
!he nurse is counseling a couple/ one of whom is affectedby an autosomal dominant disorder3 !hey e+press
concerns about the ris1 of transmitting the disorder3 ,hatis the best response by the nurse regarding the ris1 thattheir baby may have for the disease;
a3 K7ou have a one in four &"@L( chance3M
b3 K!he ris1 is #"3@L/ or a one in eight chance3M c3 K!he chance is #22L3M
d3 K7our ris1 is @2L/ or a one in two chance3M
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$evie/
!he correct response is D3 .utosomal dominantinheritance occurs when a single gene in the
heterozygous state is capable of producing thephenotype3 !he affected person generally has an affectedparent and an affected person generally has a @2Lchance of passing the abnormal gene to each of his orher children
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$evie/
. nurse is wor1ing in a women$s health clinic3 Geneticcounseling would be most appropriate for the womanwho5
a3 ust had her first miscarriage at #2 wee1s
b3 :s ?2 years old and planning to conceive
c3 Has a history that reveals a close relative with Down
syndrome
d3 :s #I wee1s pregnant with a normal triple screenresult
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$evie/
!he correct response is C3 !he family history plays acritical role in identifying genetic disorders3 . history of aprevious child/ parents or close relative with an inheriteddisease/ congenital abnormalities/ metabolic disorders/developmental disorders or choromosomal abnormalitiescan indicate an increased ris1 of genetic disorders/therefore referral to genetic counseling is appropriate3
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$evie/
. child born with a single transverse palmar crease/ ashort nec1 with e+cessive s1in at the nape/ a depressednasal bridge/ and cardiac defects is most li1ely to havewhich autosomal abnormality;
a3 !risomy "#
b3 !risomy #I
c3 !risomy #
d3 !risomy #?
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$evie/
!he correct response is a. !hese are some of thecharacteristics of trisomy "# &Down syndrome(3 !risomy"# is also associated with some degree of mentalretardation and other health problems such as cardiacdefects/ visual and hearing impairment/ intestinalmalformations/ and an increased susceptibility toinfections3
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$evie/
!he nurse is caring for a child with !urner syndromeadmitted to the unit for treatment of a 1idney infection3,hat characteristics associated with this syndrome maythe nurse e+pect to find upon assessment;
a3 icrocephaly/ polydactyly
b3 'ow9set ears/ cleft lip
c3 Short stature/ webbed nec1
d3 Gynecomastia/ taller than average
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$evie/
!he correct response is c3 . child with !urner syndromepresents with characteristic features/ such as shortstature and a webbed nec13 .lso seen in children withthis syndrome are a low posterior hairline/ wide9spacednipples/ edema of the hands and feet/ amenorrhea/ nodevelopment of secondary se+ characteristics/ sterility/and perceptual and social s1ill difficulties3 Gynecomastiaand taller9than9average height are characteristics seen in
children with
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.estions7
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