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Genetic Screening vs

Genetic Diagnostic Testing


Screening tests show the chance that a developing fetus
has a certain genetic condition.

Screenings may be noninvasive (ultrasound, blood work) where the


fetus is not directly exposed to any risks

Diagnostic tests will show if the developing fetus has a


certain genetic abnormality or condition

Testing is invasive, (inserting needles to aspirate samples) where


there is increased risk of miscarriage . (WebMD 2014)

Why Performed A Genetic Test?


To screen and diagnose any existing problems that
may affect the mother's or baby's health
Identify and address problems as they arise
Assess the risk of a baby having a chromosomal or
genetic abnormality (labtestsonline.org 2014)

Who should receive Genetic


Testing?

Women age 35 and older (Advanced Maternal Age)


Abnormal results from prenatal screening tests, (ultrasound
and blood work)
Exposure during pregnancy; such as medications or
infections
Family history of a genetic condition
Previous experience of multiple miscarriages
Experiencing infertility
Known carriers of a genetic condition (John Hopkins 2015)

Different Types of Genetic Screening/Testing


Purpose

Genetic tests
for inherited
diseases

Test
Name

Why
performed

When
performed

Who
performed
on

Genetic
testing for
inherited
disease

Check carrier status


for certain genetic
diseases to
determine risk of
having a baby with
disease

Pre-conception
or first
trimester

Mother and
father (blood
sample)

Genetic
testing for
hemoglobin
disorders

Check carrier status


for certain
hemoglobin
disorders to
determine risk of
having a baby with
disease

Pre-conception
or during
pregnancy

Mother and
father
(blood sample)

Cystic
fibrosis

Check carrier status


for CF

Pre-conception
or first

Mother and
father

Genetic Screening - Fetal Risk


Purpose

Test Name

Why performed

When
performed

Who
performed
on

Detection
of fetal
risks

First
trimester
Down
Syndrome
Screen

Assess risk of carrying a


fetus with certain
chromosomal abnormalities,
such as Down Syndrome

Usually between
10 weeks, 4
days and 13
weeks, 6 days of
pregnancy

Mother (blood
sample plus
ultrasound)

Triple
marker or
Quad
Marker
Screen
(MSAFP)

Assess risk of carrying a


fetus with certain
chromosomal abnormalities
and open neural tube
defects

Between 15 and
20 weeks of
pregnancy

Mother (blood
sample)

Cell-free
fetal DNA

Assess risk of carrying a


fetus with certain
chromosomal abnormalities;
currently recommended for
women at high risk of

During or after
the 10th week of
pregnancy

Mother (blood
sample)
(labstestsonli
ne.org 2014)

Genetic Testing - Fetal Abnormalities


Purpose

Detection
of fetal
abnormali
ties

Test Name

Why performed

When performed

Who
performed
on

Chorionic
Villus
Sampling
(CVS)

Detect chromosomal
disorders in the fetus

Between weeks 10
and 12 of
pregnancy, if
recommended

Mother (cells
from the
placenta)

Amniocentes
is

Detect certain birth


defects and
chromosomal
abnormalities

Between 15 and 20
weeks of pregnancy,
if recommended

Mother
(amniotic
fluid)

Percutaneou
s Umbilical
Blood
Sampling
(PUBS) aka
Cordocentesi
s

Detect chromosome
abnormalities, blood
disorders, and certain
infections

Between weeks 18
and 22 of
pregnancy, if
recommended

Mother/fetus
(fetal blood
sample
obtained from
vein in the
umbilical
cord)
(labstestsonli

Chorionic Villus Sampling

(Mayo Clinic 201

Chorionic Villus Sampling


s
villu
c
i
n
io
chor
e
h
T

What to
expect
from a
CVS Test?

cate
o
l
e
t is s u

ined &
a
t
b
o
s
i
tissue
alities
V
m
r
C
o
f
n
o
b
Sample for genetic a
ted
evalua be performed through
Can
sabdominal
n
a
tr
r
o
l
a
ic
rv
transce
method
Method of access is determined by
fetal position
Fetus may
be located
in posterio
r,
anterior or
fundal pos
ition
An ul
traso
und i
s
proce used to gu
dure
ide

Clinical Significance of
Chorionic Villus Sampling
Chromosomal defects such as:
Down syndrome, trisomy 13, trisomy 18
Sex chromosome abnormalities like Turner syndrome and
Klinefelter syndrome;
Genetic disorders such as Tay-Sachs disease, hemophilia,
sickle cell disease or cystic fibrosis.
The sex of the baby if you might have a gender-related
genetic disorder such as hemophilia, which a mother only
passes to her male children.
Unlike amniocentesis, CVS cannot detect neural tube
defects such as spina bifida. The test can also not check
the development of the baby's lungs. (Women & Infants
2014)

Nursing Considerations
for a Chorionic Villus
Sampling
Administer RhoGAM if the woman is Rh negative as
thematernal circulationmay be exposed to fetal
blood
Promote fluids and instruct the patient to refrain
from voiding- a full bladder helps the provider
access
A small amount of bleeding is common after the
transcervical procedure but monitor for excessive
bleeding
Genetic counseling is recommended prior to the
CVS (Hecher et. Al 1994)

Amniocentesis

(Mayo Clinic
2010)

Amniocentesis

What to
expect from a
Amniocentesi
s Test

eek
w
20
to

15
n
e
e
tw ation
e
d b gest
, (in
e
n
w
rm
t do
s
i
rf o
a
e
w
)
P
rom l gown
f
s
res ospita
Und
h
th an
i
w
d
e
ns
i s cl e a c
n
e
m
pti
Abdo
antise

Performed under Ultrasound Guidance


Steril
en
cavity eedle is in
se r t e
throu
remo
d
gh m
ving
atern into uteri
a sm a
n
al ab
l l am
dome e
ount
n
of am
fuid
niotic

Clinical Significance of
Amniocentesis
An amniocentesis may be used for genetic and
chromosome testing in the second trimester of
pregnancy in the presence of one or more of these
conditions:
Family history or previous child with a genetic disease
or chromosomal or metabolic disorder
Risk of open neural tube defects (ONTDs), such as
Spina Bifida
Maternal age over 35 years by the pregnancy due date
Abnormal maternal screening tests, such as maternal
serum alpha fetoprotein level (MSAFP)
Risk of a sex-linked genetic disease (Women &

Infants 2014)

Nursing Considerations
for a Amniocentesis
Informed consent
Have clients empty bladder before amniocentesis
Baseline vital signs and FHR, then check every 15
minutes
Position supine with abdominal scrub
Encourage bed-rest and avoidance of strenuous
activities
Instruct client to report any side effects, chills,
fever, fluid leakage, decreased fetal movement
and uterine contractions (Women & Infants 2014)

PUBS

(Mayo Clinic 201

Percutaneous Umbilical Blood


eks
e
Sampling
w
24
e
for n
e
b
(PUBS)
io
n
ed
tat
n, (i

w
orm ges
f
t do
r
s
i
e
a
P
m w own)
o
r
f
g
ress ospital
d
n
th an
U
i
h
w
d
e
ns
is clea
n
e
m
ptic
Abdo
antise

What to
expect from a
PUBS Test

Performed under Ultrasound


Guidance
The u
lt
need
lethro rasound g
ui
u
walls
to the gh the ab des the th
dome
in
um b i
inser
n
l
i
a
c
n
a
t
d
l
cor
ute
retrie ed into t
he um d. The ne rine
ve a s
e
b
mall
samp ilical cord dle is
le of
to
fetal
blood
.

Clinical Significance of
Percutaneous Umbilical Blood
Sampling
PUBS detects chromosome abnormalities (i.e. Down
Syndromeand blood disorders (i.e. fetal hemolytic
disease.)
PUBS may be performed to help diagnose any
of the following concerns:

Malformations of the fetus


Fetal infection (i.e. toxoplasmosis or rubella)
Fetal platelet count in the mother
Fetal anemia
Isoimmunization

This test is different from amniocentesis in that it


does not allowtesting for neural tube defects.
(Americanpregnancy.org 2014)

Nursing Considerations
for a Percutaneous Umbilical
Blood Sampling
Informed consent
Have clients empty bladder before cordocentesis
Baseline vital signs and FHR, then check every
15 minutes
Position supine with abdominal scrub
Encourage bed-rest and avoidance of strenuous
activities
Instruct client to report any side effects, fever,
blood loss from puncture site or leakage,
decreased fetal movement, drop in FHR, PROM
(Americanpregnancy.org 2014)

References

American Pregnancy Association (July 2015) Cordocentesis: Percutaneous


Umbilical Blood Sampling (PUBS) Retrieved from:
http://americanpregnancy.org/prenatal-testing/cordocentesis/ Accessed on:
November 8, 2015

Davidson, Michele, London, Marcia, Ladewig, Patricia (2016) Olds MaternalNewborn Nursing & Womens Health Across the Lifespan Pearson Education, Inc.

Kee, Joyce LeFever (2014) Laboratory and Diagnostic Tests with Nursing
Implications Ninth Edition, Pearson Education, Inc. Upper Saddle River, New
Jersey 07458 pg. 528 531 cordocentesis, 457 458 amniocentesis, 486 487
chorionic villi biopsy (CVB)

Lab Tests Online Organization (December 2014) Pregnancy & Prenatal Testing
Retrieved from: https://labtestsonline.org/understanding/wellness/pregnancy /
Accessed on: November 3, 2015

WebMD (March, 2014) Genetics-Prenatal Screening Retrieved from:


http://www.webmd.com/a-to-z-guides/genetics-prenatal-screening-and-testing
Accessed on: November 2, 2015

John Hopkins Hospital (2015) Genetic Counseling: Prenatal Diagnosis and


Treatment Center Retrieved from:
http://www.hopkinsmedicine.org/gynecology_obstetrics/specialty_areas/maternal
_fetal_medicine/services/genetic_counseling_prenatal_diagnosis_treatment_cent
er.html Accessed on: November 1, 2015

Women & Infants (2014) Chorionic Villus Sampling Retrieved from:


http://www.womenandinfants.org/pdc/chorionic-villus-sampling.cfm Accessed on:
November 8, 2015

Hecher, K., Campbell, S., Doyle, P., Harrington, K., & Nicolaides, (1994) K.
Assessment of fetal compromise by doppler ultrasound investigation of the fetal
circulation. Circulation. 91, 129-138. Retrieved from:
http://circ.ahajournals.org/content/91/1/129.full Accessed on November 8, 2015