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obstetrics > prenatal diagnosis, fetal do & fetal therapy > Flashcards

prenatal diagnosis, fetal do & fetal therapy Flashcards

1
Q

3 major categories of diagnostic evaluation

A

fetus high risk for genetic or congenital do
fetus unknown risk from common congenital abnormalities
fetus discovered utz’ly to have structural or dev’tal abnormalities

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2
Q

comprises 8% of conceptuses

most common cause of congenital defect

A

aneuploidy

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3
Q

aneuploidy accounts for _% 1st trim abortion & _% of all stillbirths & neonatal death

A

50% & 5-7%

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4
Q

indications for prompt invasive diagnostic procedure

A

women >35 y/o at delivery
women who previously carried fetus w/ autosomal trisomy
women or their partners who have chromosomal translocation or carriers of chromosomal inversion
hx of triploidy
repetitive spontaneous 1st trim. abortion
parental aneuploidy

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5
Q

intrinsic abnormality programmed in devt regardless of whether a precise genetic etiology is known

A

malformation

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6
Q

genetically normal fetus develops abnormally of mechanical forces imposed by uterine mvmt

A

deformation

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7
Q

more severe changes in form of fx occurs when genetically normal tissue is modified as result of specific insult

A

disruption

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8
Q

multiple structural or dev’tal abnormalities occurring together in one individual; can have same cause (give 1 ex)

A

syndrome (trisomy 18)

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9
Q

all anomalies developed sequentially as a result of one initial result (give 1 ex)

A

sequence (oligohydramnios leading to pulmo hypoplasia, limb contracture & facial deformities)

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10
Q

particular anomalies occur together frequently but do not seem to be linked etiologically (give 1 ex)

A

association (VATER)

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11
Q

(3) components of combined 1st trim. screening performed during _wks

A

hCG
PAPP-A
NT on utz
(11 & 14 wks)

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12
Q

what can be offered if NT measurement is at least 3mm or exceeds 99th percentile?

A

targeted sonography w/ fetal echocardiography

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13
Q

(4) components of quad screening testing performed during _wks

A 
MSAFP
hCG
inhibin 
estriol
(15-21 wks)
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14
Q

quad screening result in down syndrome

A

low MSAFP
high hCG
low estriol
high inhibin

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15
Q

women at high risk of pregnancy w/ NTD are offered w/? (2)

A

targeted sonography and mAFP testing

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16
Q

this marker is a glycoprotein synthesized by YS in early gestation then later on by liver and fetal GIT

A

AFP

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17
Q

upper limit of normal in MSAFP

A

2.5 MoM

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18
Q

differentiate screening from diagnostic test

A

S: provide information not to dictate a course of action
D: provides info that screening does not

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19
Q

conditions associated w/ elevated MSAFP

A 
underestimated GA
multifetal gestation
fetal death
MTD
gastroschisis
omphalocele
cystic hygroma
intestinal obstruction
liver necrosis
renal anomalies
cloacal exstrophy
OI
sacrococcygeal teratoma
congenital skin abnormality
pilonidal cyst
chorioangioma of placenta
placenta intervillous thrombosis
placental abruption
oligohydramnios
preeclampsia
fetal growth restriction
maternal hepatoma or teratoma
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20
Q

low estriol is associated w/ 2 uncommon but important condition

A

smith-lemli-opitz syndrome

c-linked ichthyosis

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21
Q

differentiate integrated & sequential screening

A

I: combined 1st trim screening + quad screening; aneuploidy risk is calculated from 7 parameters
S: combined 1st trim screening then inform px w/ result. if the risk is above threshold, she’ll receive counseling and offered dx testing

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22
Q

differentiate stepwise & contingent sequential screening

A

S: high risk are offered invasive testing and the remaining receive 2nd trim. screening
C: highest risk are offered invasive testing; moderate risk receive 2nd trim. screening; lowest risk & negative result have no further testing

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23
Q

this test works by identifying DNA fragments derived from apoptotic trophoblast and can be performed anytime after _wks?

A

cell-free dna screening (9-10wks)

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24
Q

if cell-free dna screening is performed as secondary screening, a normal result is reassuring, Tor F?

A

false (not reassuring)

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25
Q

most common fetal abnormality

A

cardiac defect

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26
Q

soft signs associated with fetal trisomy 21

A 
aberrant right subclavian artery
brachycephaly
clinodactyly
echogenic bowel
echogenic intracardiac focus
flat facies
nasal bone hypoplasia
NT thickening
renal pelvis dilation
sandal gap
shortened ear length
single umbilical artery
short femur & humerus
widened iliac angle
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27
Q

what is considered abnormal measurement of NT?

A

> 6mm

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28
Q

focal papillary muscle calcification neither structural nor functional cardiac abnormality is associated with?

A

trisomy 21

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29
Q

bilateral echogenic foci is associated with?

A

trisomy 13

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30
Q

what is considered abnormal measurement of pelvis dialtion?

A

> 4mm

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31
Q

bowel that appears as bright as fetal bone

A

echogenic fetal bowel

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32
Q

classical form of cystic fibrosis

A 
abnormal sweat Cl level
chronic pulmo ds
pancreatic insufficiency
liver ds
obstructive azoospermia
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33
Q

most common cause of familial mental retardation

A

fragile x syndrome

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34
Q

accumulation of GM2 gangliosides in CNS, progressive neurodegeneration, & death

A

tay-sachs ds

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35
Q

most common prenatal diagnostic proced. w/c involves transabdominal withdrawal of amniotic fluid done bet. 15-20 wks

A

amniocentesis

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36
Q

initial 1-2mL of fluid aspirated in amniocentesis is either discarded or used for AFP testing, T or F?

A

true

37
Q

indications for amniocentesis

A

fetal genetic do
congenital infx
alloimmunization
assessment of fetal lung maturity

38
Q

this is performed bet. 10-13 wks w/c involves obtaining chorionic villi transcervically or transabdominally

A

CVS

39
Q

this is performed for assessment & treatment of platelet alloimmunization, for analysis of non-immune hydrops, & for fetal karyotype

A

cordocentesis

40
Q

involves blastomere biopsy through a hole made in the zona pellucida

A

pre-implantation genetic diagnosis

41
Q

most common causes of fetal anemia

A

red cell alloimmunization
congenital infx
alpha4-thalassemia
fetomaternal hemorrhage

42
Q

procedures for identification of fetal anemia

A

cordocentesis

doppler of fetal MCA

43
Q

detection of unbound antibodies in maternal serum

A

indirect coombs test

44
Q

sensitization of D-negative individuals involves a single exposure of at least _mL of fetal erythrocytes

A

0.1mL

45
Q

what can be done if titer is below critical value? reached a critical value?

A

B: repeat titer every 4 wks for duration of pregnancy
R: further evaluation required

46
Q

chorionic villous is recommended for red cell alloimmunization, T or F?

A

false (not recomm)

47
Q

what is the recommended test for detection of fetal anemia?

A

doppler of fetal MCA

48
Q

what is the recom. of MCA is 1-1.5 MoM and slope is rising?

A

weekly doppler interoogation

49
Q

what is the recom. of MCA is >1.5 MoM and AOG is <34-35 wks?

A

cordocentesis should be considered & followed by fetal transfusion

50
Q

mgmt for severe fetal anemia

A

cordocentesis and fetal transfusion (thru umbilical vein preferably) are generally performed prior to 34-35 wks
peritoneal transfusion can be done in early 2nd trim.

51
Q

at what hct level is transfusion recomm?

A

hct <30%

52
Q

target hct of a non-hydropic fetus?

A

40-50%

53
Q

MCA peak systolic velocity threshold for severe anemia

A

1.70 MoM

54
Q

anti-D immunoglobulin recomm

A

postpartum admin. of anti-D immunoglobulin to at risk pregnancies w/in 72 hours of delivery
provision of anti-D immunoglobulin at 28 wks of gestation

55
Q

prophylactic anti-D immunoglobulin

A

28 wks of gesttaion then 2nd dose after delivery

56
Q

this test identifies presence of fetal D-pos cells in circulation of a D-neg women

A

rosette test

57
Q

this test is used in D incompatibility or fetomaternal hemorrhage
most commonly used quantitative test for fetal red cells in maternal circulation

A

kleihauer-betke (KB) test or flow cytometry

58
Q

IM & IV anti-D immunoglobulin dose

A

IM: 300 ug or 1500 IU
IV: 2 ampules (totaling 600 ug) every 8 hours

59
Q

most common cause of severe thrombocytopenia among term newborn

A

alloimmune thrombocytopenia

60
Q

empiric trt for alloimmune thrombocytopenia

A

IVIG & prednisone

61
Q

recommended type of delivery for alloimmune thrombocytopenia

A

CS

62
Q

ds causing rapid dec. in neonatal plt levels after birth w/ nadir at 48-72 hours

A

ITP

63
Q

prenatal dx criteria of hydrops fetalis via utz

A

> 2 fetal effusion

1 effusion + anasarca

64
Q

severe anemia is defined hgb value of?

A

<5 g/dL

65
Q

what is the cause of 90% of cases of hydrops?

A

non-immune hydrops

66
Q

dx tests for non-immune hydrops

A

indirect coombs tets
targeted utz
amniocentesis
kleihauer-betke test

67
Q

an association bet. fetal hydrops & devt of maternal edema

A

mirror syndrome

68
Q

what is triple edema?

A

fetus, mother, and placenta become edematous

69
Q

recommended mgmt for mirror syndrome

A

delivery

70
Q

HR in fetla tachyarrhythmia & bradyarrhythmia

A

T: >180 bpm
B: <110 bpm

71
Q

this is characterized by an abrupt inc in fetal HR to 180-300bpm w/ 1:1 AV concordance

A

supraventricular tachycardia

72
Q

most common etiology of pronounce fetal bradycardia

A

congenital heart block

73
Q

what can be given for fetus w/ HR of <55bpm?

A

terbutalline

74
Q

what can be given for fetus arrhythmia?

A 
digoxin
verapamil
propanolol
procainamide
quinidine
flecainide
sotalol
amiodarone
75
Q

the most common arrhythmia

A

premature atrial contraction

76
Q

most common etiology of androgen excess in female

A

CAhH

77
Q

typical preventive regimen for CAH

A

oral dexamethasone

78
Q

this malformation is a well-circumscribed lung mass that may appear solid & echogenic or may have one or multiple variably sized cysts

A

congenital cystic adenomatoid malformation

79
Q

recom. proced. for guiding trt in thyroid ds

A

cordocentesis

80
Q

ds w/c appears on utz as splod and/or cystic mass arising from anterior sacrum

A

sacrococcygeal teratoma

81
Q

fetoscopic surgery is performed in TTTS at what wks?

A

16 & 26 wks

82
Q

LHR prognosis

A

> 1.35 survival rate is 100%

<0.6 survival rate is 0%

83
Q

mgmt for congenital diaphragmatic hernia

A

FETO

84
Q

components of EXIT proced.

A

comprehensive pre-op
uterine relaxation
intraoperative utz
placement of stay-suture followed by uterine stapling device
continuous amnioiinfusion
delivery of fetal head, neck, & upper torso
fetal injection of IM vecuronium, fentanyl, atropine
fetal peripheral IV access, pulse ox, cardiac utz
following proced., umbilical lines placed prior to cord clamping
uterotonic agents

85
Q

mgmt for px w/ prior fetus w/ ICH, but no maternal anti-HPA ab identified

A

maternal anti-HPA ab screening & crossmatch w/ paternal plt at 12, 24, 32 wks; no trt for negative result

86
Q

mgmt for px w/ prior fetus w/ thrombocytopenia & maternal anti-HPA ab but no ICH

A

at 20 wks: IVIG 1g/kg/wk & prednisone 0.5mg/kg/d; or IVIG 2g/kg/wk
at 32 wks: IVIG 2g/kg/wk & prednisone 0.5mg/kg/d continue until delivery

87
Q

mgmt for px w/ prior fetus w/ 3rd trim. ICH or prior newborn w/ ICH & maternal anti-HPA ab

A

at 12 wks: IVIG 1g/kg/wk
at 20 wks: either inc. IVIG to 2g/kg/wk or add prednisone 0.5mg/kg/d
at 28 wks: IVIG 2g/kg/wk & prednisone 0.5mg/kg/d continue until delivery

88
Q

mgmt for px w/ prior fetus w/ ICH prior to 3rd trim. & maternal anti-HPA ab

A

at 12 wks: IVIG 2g/kg/wk

at 20 wks: add prednisone 1mg/kg/d continue both until delivery

obstetrics (11 decks)

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