Professional Documents
Culture Documents
Genetic tests
for inherited
diseases
Test
Name
Why
performed
When
performed
Who
performed
on
Genetic
testing for
inherited
disease
Pre-conception
or first
trimester
Mother and
father (blood
sample)
Genetic
testing for
hemoglobin
disorders
Pre-conception
or during
pregnancy
Mother and
father
(blood sample)
Cystic
fibrosis
Pre-conception
or first
Mother and
father
Test Name
Why performed
When
performed
Who
performed
on
Detection
of fetal
risks
First
trimester
Down
Syndrome
Screen
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)
Between 15 and
20 weeks of
pregnancy
Mother (blood
sample)
Cell-free
fetal DNA
During or after
the 10th week of
pregnancy
Mother (blood
sample)
(labstestsonli
ne.org 2014)
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
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
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
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
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
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:
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
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
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