OB Wk 4 Quiz (updated)

genetic testing can be ___________ or __________

invasive, noninvasive

chorionic villus sampling is an __________ test

invasive

CVS is an alternative to ________

amniocentesis

CVS involves ultrasound guided biopsy of the ___________

placenta or chorionic villi

the active trophoblastic tissue that becomes the placenta is the

chorion frondosum

CVS is performed early in pregnancy, during weeks ________

10-14

CVS results are available within ____ week

1

an ultrasound should be performed before CVS procedure to determine the relationship between the ________ and _______

uterus, cervix

risk of fetal loss with a CVS is about ___%

1

there is association with limb reduction defects when CVS procedure is performed before ____ weeks

8

amniocentesis was first used as a technique to relieve _________

polyhydramnios

amniocentesis was first used as a technique to predict ____________

Rh isoimmunization

amniocentesis was first used as a technique to document fetal ________ maturity

lung

results from amniocentesis test are available in _________ weeks

1-3

*longer than CVS*

if rapid results from an amniocentesis is desired, the _______ procedure can be performed

FISH

FISH procedure provides _______ information within 24 hours

limited

FISH procedure provides quick information for chromosomes ____________ only (4)

21, 13, 18, X&Y

______ women are at risk for having a chromosomal defect

all

risk for chromosomal defects _______ with age

increases

most common reason for an amniocentesis to be performed =

advanced maternal age

for genetic reasons, amniocentesis is performed between weeks ________

15-20

amniocentesis can be performed as early as _____ weeks

12

performing amniocentesis at 12 weeks may lead to the development of fetal _________ and _______ due to reduced amniotic fluid

scoliosis

clubfoot

when performing amniocentesis:

you should be ______ from fetus

away

when performing amniocentesis:

you should be ____ from central portion of placenta

away

when performing amniocentesis:

you should be ______ from the umbilical cord

away

when performing amniocentesis:

you should be _____ the maternal midline and avoid maternal uterine vessels

near

this should always be done after an amniocentesis is performed

obtain fetal HR

about ____ mL of amniotic fluid is aspirated during amniocentesis

20

technique for performing amniocentesis on multiple gestations is the same except _____ sac is entered

each

this can be injected into the first amniotic sac to show both sacs were sample in a multiple gestation amniocentesis

indigo carmine dye

if dye stained amniotic fluid is visible when attempting to puncture 2nd amniotic sac, this indicates the first sac was penetrated a _________ time

second

RhoGAM should be administered to all RH-negative mothers within _____ hours of amniocentesis procedure

72

cordocentesis is an invasive procedure where fetal _______ is obtained through aspiration of the umbilical cord

blood

cordocenesis results are processed within _______ days

2-3

the availability of ________ has decreased the need for cordocentesis to be performed

amniocentesis

cordocentesis procedures are now typically used for guidance for transfusions to treat fetal ____________

isoimmunization

the main protein in fetal serum =

AFP

AFP is produced early in gestation by the ___________

yolk sac

AFP is produced later in gestation by the fetal ___________

liver

AFP is found in the:

fetal ________

GI tract

liver

kidneys

spine

AFP is transported by fetal __________

urination

AFP can be measured in ___________ or from __________

maternal serum (MSAFP)

amniotic fluid (AFAFP)

AFP is considered abnormal when _________ or _________

elevated

low

neural tube defects are common reasons for ________ AFP

elevated

elevated AFP is associated with _____ spina bifida

open

elevated AFP is levels greater than _________

2.0-2.5 multiples of the median

maternal serum AFP ________ with gestational age

increases

maternal serum AFP levels peak at _______ weeks

15-18

*ideal sampling time*

open neural defects cause AFP to directly _______ into the amniotic fluid

leak

when AFP is elevated but the cranium and spine appear normal, the risk of the fetus actually having a spinal defect is approx __________

halved

a common reason for elevated AFP levels is incorrect _________

dates

*fetus is younger/older than expected*

____________ defects (such as an omphalocele or gastroschisis) can produce elevated AFP

abdominal wall

fetuses with a gastroschisis will have _______ levels of AFP than a fetus with an omphalocele because there is no membrane

higher

a fetus with a ______ lesion can have elevated AFP

kidney

congenital ________ and polycystic __________ can lead to extremely high levels of AFP

nephrosis

kidneys

liver disease in the mother or fetus can cause ______ AFP

high

pregnancies complicated by ___________ may have higher concentrations of AFP

oligohydramnios

*bc less fluid to diffuse the protein*

chromosomal abnormalities can cause ______ AFP

low

AFP from amniotic fluid normally _______ with fetal age

decreases

hydatidiform moles can cause ________ AFP levels

low

quad screen serum markers include (4):

AFP

hCG

estriol (UE3)

inhibin A

___________ improves the sensitivity in detecting down syndrome (so it was added to triple screen testing)

Inhibin A

in trisomy 21, hCG levels will be _______ while AFP and estriol levels will be _________

high

low

with trisomy 18, all maternal serum markers are _________

decreased

a first trimester serum marker used to detect anomalies; glycoprotein derived from trophoblastic tissue that is diffused into maternal circulation

PAPP-A

PAPP-A levels _______ in maternal serum throughout pregnancy

increase

PAPP-A levels are ________ in pregnancies affected by aneuploidy

decreased

first trimester serum marker used to assess and evaluate for increased risk of down syndrome; glycoprotein derived from the placenta

hCG

a sensitive screening tool for Down syndrome includes combination of _______ and _______ with nuchal translucency measurement

hCG, PAPP-A

normal karyotype consists of _____ chromosomes

46

(22 pairs)

an abnormal amount of chromosomes =

aneuploidy

the cause of trisomy is normally the failure of normal _____________ at time of meiosis

chromosomal division

a dominant disorder is a condition caused by a _______ defective gene (autosomal dominant)

single

a dominant disorder is usually __________ from one parent who is also affected

inherited

an inherited dominant disorder carries a ___% chance that each time a pregnancy occurs, the fetus will have that condition

50

a recessive disorder is caused by a _______ of defective genes (autosomal recessive)

pair

(one inherited from each parent)

infantile polycystic kidney disease is an example of a ___________ disorder

recessive

with a recessive disorder, there is a ____% chance that with each pregnancy the fetus will have that disorder

25

X linked disorders are inherited by ______ from their _______

boys

mothers

males affected by X link disorders do not transmit the disorder to their sons, but all ________ will be carriers for the disorder

daughters

the X linked gene is located on the __________ sex chromosome (the X)

female

aqueductal stenosis is an example of a ___________ disorder

X linked

a multifactorial condition is an abnormal event that arises because of the interaction of one or more genes and ____________ factors

environmental

anencephaly is an example of a ___________ condition

multifactorial

the occurrence of a gene or chromosomal abnormality in a portion of an individuals cells is known as

mosaicism

an abnormal fluid collection behind the fetal neck that is associated with aneuploidy =

nuchal translucency

NT is performed between ________ weeks

11-14

NT ______ with gestational age

increases

increased NT is associated with (3):

trisomies (13,18,21)

triploidy

turners syndrome

even in fetuses with normal chromosomes, an increased NT is associated with an increased risk for _______ defects

structural

most common chromosomal disorder

Trisomy 21

trisomy 21, AKA

Down syndrome

with Down syndrome, AFP ______

decreases

with Down syndrome, hCG _________

increases

with Down syndrome, UE3 ________

decreases

with Down syndrome, inhibin _________

increases

increased NT measures _____ or greater

5mm

trisomy 18, AKA

Edwards syndrome

second most common chromosomal disorder

trisomy 18