prenatal diagnosis, fetal do & fetal therapy Flashcards by L R

3 major categories of diagnostic evaluation

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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comprises 8% of conceptuses

most common cause of congenital defect

aneuploidy

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

50% & 5-7%

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indications for prompt invasive diagnostic procedure

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

malformation

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

deformation

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

disruption

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

syndrome (trisomy 18)

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

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

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

association (VATER)

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

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

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

targeted sonography w/ fetal echocardiography

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(4) components of quad screening testing performed during _wks

MSAFP
hCG
inhibin 
estriol
(15-21 wks)

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quad screening result in down syndrome

low MSAFP
high hCG
low estriol
high inhibin

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

targeted sonography and mAFP testing

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

AFP

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upper limit of normal in MSAFP

2.5 MoM

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differentiate screening from diagnostic test

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

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conditions associated w/ elevated MSAFP

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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low estriol is associated w/ 2 uncommon but important condition

smith-lemli-opitz syndrome

c-linked ichthyosis

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differentiate integrated & sequential screening

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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differentiate stepwise & contingent sequential screening

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

cell-free dna screening (9-10wks)

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

false (not reassuring)

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most common fetal abnormality

cardiac defect

soft signs associated with fetal trisomy 21

``` 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 ```

what is considered abnormal measurement of NT?

>6mm

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

trisomy 21

bilateral echogenic foci is associated with?

trisomy 13

what is considered abnormal measurement of pelvis dialtion?

>4mm

bowel that appears as bright as fetal bone

echogenic fetal bowel

classical form of cystic fibrosis

``` abnormal sweat Cl level chronic pulmo ds pancreatic insufficiency liver ds obstructive azoospermia ```

most common cause of familial mental retardation

fragile x syndrome

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

tay-sachs ds

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

amniocentesis

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

true

indications for amniocentesis

fetal genetic do congenital infx alloimmunization assessment of fetal lung maturity

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

CVS

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

cordocentesis

involves blastomere biopsy through a hole made in the zona pellucida

pre-implantation genetic diagnosis

most common causes of fetal anemia

red cell alloimmunization congenital infx alpha4-thalassemia fetomaternal hemorrhage

procedures for identification of fetal anemia

cordocentesis | doppler of fetal MCA

detection of unbound antibodies in maternal serum

indirect coombs test

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

0.1mL

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

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

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

false (not recomm)

what is the recommended test for detection of fetal anemia?

doppler of fetal MCA

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

weekly doppler interoogation

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

cordocentesis should be considered & followed by fetal transfusion

mgmt for severe fetal anemia

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.

at what hct level is transfusion recomm?

hct <30%

target hct of a non-hydropic fetus?

40-50%

MCA peak systolic velocity threshold for severe anemia

1.70 MoM

anti-D immunoglobulin recomm

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

prophylactic anti-D immunoglobulin

28 wks of gesttaion then 2nd dose after delivery

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

rosette test

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

kleihauer-betke (KB) test or flow cytometry

IM & IV anti-D immunoglobulin dose

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

most common cause of severe thrombocytopenia among term newborn

alloimmune thrombocytopenia

empiric trt for alloimmune thrombocytopenia

IVIG & prednisone

recommended type of delivery for alloimmune thrombocytopenia

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

ITP

prenatal dx criteria of hydrops fetalis via utz

>2 fetal effusion | 1 effusion + anasarca

severe anemia is defined hgb value of?

<5 g/dL

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

non-immune hydrops

dx tests for non-immune hydrops

indirect coombs tets targeted utz amniocentesis kleihauer-betke test

an association bet. fetal hydrops & devt of maternal edema

mirror syndrome

what is triple edema?

fetus, mother, and placenta become edematous

recommended mgmt for mirror syndrome

delivery

HR in fetla tachyarrhythmia & bradyarrhythmia

T: >180 bpm B: <110 bpm

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

supraventricular tachycardia

most common etiology of pronounce fetal bradycardia

congenital heart block

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

terbutalline

what can be given for fetus arrhythmia?

``` digoxin verapamil propanolol procainamide quinidine flecainide sotalol amiodarone ```

the most common arrhythmia

premature atrial contraction

most common etiology of androgen excess in female

CAhH

typical preventive regimen for CAH

oral dexamethasone

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

congenital cystic adenomatoid malformation

recom. proced. for guiding trt in thyroid ds

cordocentesis

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

sacrococcygeal teratoma

fetoscopic surgery is performed in TTTS at what wks?

16 & 26 wks

LHR prognosis

>1.35 survival rate is 100% | <0.6 survival rate is 0%

mgmt for congenital diaphragmatic hernia

FETO

components of EXIT proced.

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

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

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

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

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

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

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

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

at 12 wks: IVIG 2g/kg/wk | at 20 wks: add prednisone 1mg/kg/d continue both until delivery

prenatal diagnosis, fetal do & fetal therapy Flashcards

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