weird beans Flashcards

1
Q

which type of arrhythmia is high risk for associated abnormalities

A

bradycardia (<100bpm)

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2
Q

microcalcification in the __ is an EICF

A

papillary muscle

  • LV most common
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3
Q

EICF increased risk of trisomy __

A

13

if mother >35y also slight risk of 21

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4
Q

what is the most common of all congenital malformations

A

congenital heart disease

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5
Q

congenital heart disease associated with trisomy __

A

18 (99%)
13 (90%)
21 (50%)

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6
Q

levocardia aka

A

situs solitus
normal heart position and axis

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7
Q

mediastinal shift

A

heart displaced
normal axis

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8
Q

dextroposition

A

heart displaced to the right
normal axis

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9
Q

dextrocardia

A

apex to the right
heart in right chest

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10
Q

which view is helpful for assessing transposition of great vessels

A

long axis outflow tracts

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11
Q

cardiac anomalies seen in 4CH view

A

atrial septal defect
ventricular septal defect
atrioventricular defect
small left ventricle
enlarged right atrium
intracardiac masses

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12
Q

what is the most common form of ASD

A

ostium secundum (near the foramen ovale)

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13
Q

an ostium __ is located inferior to the foramen ovale

A

ostium primum

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14
Q

where is the sinus venosus ASD located

A

near the SVC

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15
Q

VSD associated with __

A

chromosomal anomalies
DM

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16
Q

atrioventricular septal defect aka

A

endocardial cushion defect

atrioventricular canal malformation

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17
Q

associated anomaly with AVSD

A

trisomy 21 (40%)

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18
Q

small left ventricle aka

A

hypoplastic left heart

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19
Q

hypoplastic left heart associated with __

A

coarctation of aorta

  • stenosis, atresia, mitral valve atresia
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20
Q

which cardiac anomaly will you see hypertrophied LV wall

A

hypoplastic left heart

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21
Q

coarctation of the aorta high association with which chromosomal anomaly

A

Turner syndrome

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22
Q

Ebstein anomaly aka

A

enlarge right atrium

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23
Q

what causes ebstein anomaly

A

downward displacement of the tricuspid valve leaflets (can be near the moderator band)

50% have other heart defects

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24
Q

benign tumour of striated muscle; although can be extra cardiac, this is the most common cardiac mass

A

rhabdomyoma

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25
Q

sono appearance of rhabdomyoma

A

hyperechoic

usually multiple

can be intra or extra cardiac

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26
Q

rhabdomyomas often associated with __

A

tuberou sclerosis (angiofibroma, epilepsy, intellectual disability)

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27
Q

causes of rhabdomyoma

A

congestive heart failure
pericardial effusion
hydrops
fetal demise

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28
Q

cardiac anomalies seen in outflow tract views

A

overriding aorta

tetralogy of Fallot

truncus arteriosus

complete transposition of great vessels

double outlet right ventricle

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29
Q

aorta positioned over a VSD instead of over the LV

A

overriding aorta

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30
Q

with an overriding aorta, the aorta is displaced to the __

A

right

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31
Q

overriding aorta associated with __

A

tetralogy of Fallot

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32
Q

tetralogy of Fallot

A

overriding aorta

VSD

RVOT/pulmonary stenosis (small PA)

RV hypertrophy

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33
Q

if the PA looks smaller than the Ao in the 3vv, what is the likely concern

A

pulmonary stenosis

  • tetralogy of Fallot
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34
Q

single arterial trunk arising from the heart

A

truncus arteriosus

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35
Q

truncus arteriosus can be difficult to differentiate from a severe __

A

tetralogy of Fallot

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36
Q

if you only see 2 vessels in the 3vv what might you be dealing with

A

truncus arteriosus

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37
Q

if the great vessels do not cross, but run parallel in the outflow tract views, what might be the problem

A

complete transposition of the great vessels

  • Ao arises from RV and PA from LV
  • normal atrioventricular connections
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38
Q

when the PA and most of the Ao arise from the RV

A

double outlet right ventricle

***VSD present
*great vessels may run parallel to each other
*similar to overriding aorta but with stenosis to the PA

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39
Q

failure of fetal heart to adequately pump blood throughout fetus

A

fetal congestive heart failure

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40
Q

end stage cardiac failure results in __

A

hydrops

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41
Q

causes of fetal congestive heart failure

A

arrhythmia
anemia
CHD
cystic hygroma

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42
Q

sono features of fetal congestive heart failure

A

hydrops
cardiomegaly
abnormal myocardial function
Doppler findings in umb v and artery

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43
Q

decreased AC:HeartC ratio

A

cardiomegaly

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44
Q

why is the abnormal closure of ductus arteriosus before birth NOT a catastrophic event

A

foramen ovale still open
still causes strain on baby

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45
Q

why might the ductus arteriosus close prematurely

A

certain drugs
*indomethacin (rx for premature labour)
*NSAIDS

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46
Q

causes for fetal hepatomegaly

A

isoimmunization
TORCH infection

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47
Q

causes for fetal liver calcification

A

most idiopathic

also
- tumours
- TORCH infections
- vascular accidents

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48
Q

cause for fetal splenomegaly

A

isoimmunization
infections
overgrowth disorders (Beckwith-Wiedemann)

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49
Q

hepatosplenomegaly, microcephaly, visceromegaly, macrosomia, macroglossia, omhalocele

A

Beckwith-Wiedemann syndrome

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50
Q

cariosplenic syndromes

A

asplenia
polysplenia

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51
Q

does non-visualization of the GB indicate anomalies

A

not necessarily

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52
Q

treatment for cholelithiasis or sludge seen in fetal gb

A

none, may resolve
expectant after birth

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53
Q

ddx of choledochal cyst

A

duodenal atresia

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54
Q

most common malignant tumour in fetus

A

neuroblastoma of adrenal

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55
Q

a persistent right umbilical vein typically __ the left UV

A

replaces

  • though may coexist
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56
Q

which way does a persistent right UV course in relation to the in SAX

A

‘poking’ the stom

*curves toward stom
*GB seen to the left of the UV

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57
Q

persistent right UV connects with the __ and curves __ the stomach

A

connects with the right portal vein

curves TOWARD the stomach

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58
Q

what are likely causes of echoes seen within fetal stomach

A

blood in amniotic fluid (swallowed)

third trimester (prominent rugae, venix caseosa)

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59
Q

stomach dilatation could suggest __

A

gastric outlet obstruction

  • duodenal atresia
  • pyloric/gastric atresia
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60
Q

what is the prognosis of isolated situs inversus

A

good if isolated

  • complete transposition of thoracic and abdominal organs and great vessels
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61
Q

what is frequently associated with partial situs inversus

A

cardiac and splenic anomalies

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62
Q

causes for small bowel obstruction

A

atresia

midgut volvulus (malrotation)

intussusception

cystic fibrosis (meconium ileus)

** may result in bowel perforation

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63
Q

1/3 of small bowel obstructions occur in the __

A

jejunum or ileum

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64
Q

sono appearance of small bowel obstruction

A

dilated fluid-filled loops of bowel >7mm

enlarged stomach
(with high level obstructions)

increased peristalsis

polyhydramnios
(with high level obstructions)

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65
Q

what is the most common form of intestinal atresia and is highest resulting in obstruction

A

duodenal atresia

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66
Q

duodenal atresia associated with ___

A

trisomy 21

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67
Q

sono features of duodenal atresia

A

‘double bubble’ sign
+/- polyhydramnios

  • usually > 24w GA
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68
Q

if the bubbles do not connect in the ‘double bubble’ sign, what is the dx

A

NOT duodenal atresia

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69
Q

distal ileum obstructed with muconium, associated with cystic fibrosis

A

meconium ileus

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70
Q

sono features of meconium ileus

A

dilated, ECHOGENIC, fluid filled loops of bowel

+/- polyhydramnios

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71
Q

reactive, sterile chemical peritonitis secondary to small bowel perforation

A

meconium peritonitis

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72
Q

sono feautres of meconium peritonitis

A

intraperitoneal calcifications

ascites (usually echogenic)

+/- polyhydramnios

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73
Q

termination (closure) of the anal canal

A

anorectal atresia

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74
Q

anorectal atresia associated with __

A

VACTERL syndrome

**any 3 of:
Vertebral anomalies
Anal atresia
Cardiac anomalies
Traceo-Esophageal abnormalities
Renal/urinary anomalies
Limb defect

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75
Q

what is VACTERL syndrome

A

any 3 of:
Vertebral anomalies
Anal atresia
Cardiac anomalies
Traceo-Esophageal abnormalities
Renal/urinary anomalies
Limb defect

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76
Q

dilated rectosigmoid colon (tubular cystic structure in posterior pelvis) and some VACTERL anomalies – likely dx?

A

anorectal atresia

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77
Q

the higher the atresia in the bowel, the greater the risk of __

A

polyhydramnios

(altered swallowing)

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78
Q

tracheoesophageal fistula and VACTERL syndrome are associated findings of __

A

esophageal atresia

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79
Q

sono findings of isolated esophageal atresia

A

stomach not visualized

polyhydramnios

blind ended, fluid filled pouch in the neck

**often not seen until >28w GA

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80
Q

sono features of esophageal atresia WITH tracheoesophageal fistula

A

stomach usually seen

polyhydramnios in 1/3

pouch sign (cystic structure in pharynx area)

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81
Q
A
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82
Q
A
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83
Q

echogenic bowel pitfalls

A

high frequency transducer

can be normal in 3rd trimester (meconium)

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84
Q

common causes/associations of echogenic bowel

A

trisomy 21 (also 13, 18, Turner)

intra amniotic bleeding

abnormal bowel

cystic fibrosis

CMV (TORCH infection)

IUGR

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85
Q

abnormal ascites within the peritoneal cavity (if seen) will be __ to the abdominal muscles and ribs

A

deep

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86
Q

herniation of abdominal organs into base of umbilical cord after 12w GA

A

omphalocele

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87
Q

lab findings with omphalocele

A

increased MSAFP

  • covered with membranes; considered OPEN because not covered with skin
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88
Q

trisomy 18 and cardiac abnormalities are most prevalent associations of __

A

omphalocele

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89
Q

omphalocele that only contains bowel is considered __ risk

A

higher

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90
Q

sono appearance of bowel alongside omphalocele

A

normal; not thickened

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91
Q

IUGR, clenched hands, cardiac anomalies, CPC, NTD, hydrocephalus, CDH, omphalocele

A

trisomy 18

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92
Q

trisomy 18 markers

A

IUGR, clenched hands, cardiac anomalies, CPC, NTD, hydrocephalus, CDH, omphalocele

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93
Q

contents of a ‘giant’ omphalocele

A

liver and bowel

increased risk of dystocia so csec required

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94
Q

associated sundromes with omphalocele

A

trisomy 18

beckwith wiedmann

cloacal exstrophy

pentalogy of Cantrell

meckel-gruber

trisomy 13

trisomy 21

polyploidy

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95
Q

normal cord insertion, cleft defect with extrusion of bowel to the RIGHT

A

gastroschisis

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96
Q

lab findings with gastroscisis

A

increased MSAFP

no covering membrane

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97
Q

appearance of bowel with gastroschisis

A

free floating in amniotic fluid

may be thickened

common for bowel obstruction

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98
Q

sono features of gastroschisis

A

no limiting (covering) membrane

sometimes includes liver (rare)

50% of fetuses small for dates

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99
Q

associations with gastroschisis

A

rare association with other anomalies or syndromes

often isolated finding

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100
Q

syndromes associated with anterior andominal wall defects

A

Beckwith-Wiedemann syndrome

Pentalogy of Cantrell

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101
Q

Beckwith-Wiedemann syndrome

A

placental endocrine dysfunction with

omphalocele

macroglossia

macrosomia (hepatosplenic visceromegaly)

microcephaly

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102
Q

Petalogy of Cantrell

A

** very rare

ectopia cordis (heart outside chest)

abdominal wall defect (most commonly omphalocele)

disruption of distal sternum

disruption of anterior diaphragm

disruption of diaphragmatic pericardium

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103
Q

sono features of pentalogy of Cantrell

A

mid-anterior abd wall defect

ectopic heart

PE and PCE

craniofascial anomalies

ascites

2VC

may be associated with chromosomal anomalies

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104
Q

bladder exstrophy

A

bladder and related structures are turned INSIDE OUT

skin ABSENT in lower abd wall

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105
Q

inside of bladder exposed to amniotic fluid

A

bladder exstrophy

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106
Q

mass inferior to CI; bladder not visualized

A

bladder exstrophy

107
Q

failure of development of primitive cloaca – results in convergence of GI and GU tracts

A

cloacal exstrophy

108
Q

cloacal exstrophy aka

A

omphalocele-extrophy-imperforate anus-spinal defect

OEIS

109
Q

single opening on peritoneum inferior to CI; non visualization of lower GI or GU tracts

A

cloacal exstrophy

110
Q

what is a cloaca generally

A

a single opening

111
Q

body stalk anomaly aka

A

limb-body wall complex

112
Q

absence of umb cord and gross externalization of abd and thoracic contents

A

body stalk anomaly

speculated cause - early alteration of blood flow and/or amnion rupture

113
Q

large ventral wall defect of chest and abd, usually to LEFT side; short/absent umb cord, marked scoliosis, craniofascial anomalies, limb defects, amniotic bands

A

body stalk anomaly

114
Q

which ventral wall defect site is superior to umbilicus

A

pentalogy of Cantrell

115
Q

AFP screening aka

A

MSAFP

maternal serum alphafetoprotein

** a normal protein produced in fetal liver and found in maternal blood

116
Q

MSAFP levels are elevated with __ defects

A

OPEN

highest concentration with placental abnormalities

most commonly seen with NTD and abd wall defects

117
Q

lab values with defects covered by membranes

A

MSAFP elevated because membranes are not skin

considered OPEN defect

ie. omphalocele, myelomeningocele, encephalocele

118
Q

lab values of defects not covered by membranes

A

highest MSAFP

SEVERE OPEN defect

ie. gastroschisis, myeloschisis

119
Q

what is the membrane that covers an omphalocele

A

amnion

120
Q

amniotic band syndrome

A

bands that stick, entangle, and disrupt fetal parts

range of congenital malformations including abd wall defects

121
Q

indications for prenatal diagnosis

A

advanced maternal age

abnormal MSAFP or triple/quad/five screen test

previous child with chromosomal defect

previous child or family hx of NTD

family hx of genetic disease

122
Q

how are fetal cells obtained for karyotyping

A

chorionic villus sampling

amniocentesis

cordocentesis (PUBS)

123
Q

what is the distribution of the AFP screening

A

fetal serum (FSAFP)
maternal serum (MSAFP)
amniotic fluid (AFAFP)

124
Q

when is the optimum time for MSAFP screening

A

16w GA

reporting standard: multiple of the median (MoM)

125
Q

what is the MoM of MSAFP

A

0.5-2.4 MoM

126
Q

causes of elevated MSAFP

A

unexplained (normal fetus)
*most common

incorrect dates

multiples

placental anomaly

fetal anomaly (open defect, teratoma, Turner syndrome)

127
Q

neural-specific enzyme in amniotic fluid seen with open NTD

A

acetylcholinesterase

*if elevated alongside AFAFP, risk of NTD close to 100%

128
Q

AFP is no longer sensitive screening tool after __ GA

A

20w

129
Q

what is the triple screen and what does it test for

A

concentration of MSAFP, beta-hCG and estriol

tests for trisomy 21, 18, and NTD

130
Q

triple screen results -> low MSAFP, low estriol, elevated betas

A

risk of trisomy 21

131
Q

triple screen results -> low MSAFP, low estriol, low betas

A

risk for trisomy 13

132
Q

triple screen results -> elevated MSAFP, normal estriol, normal betas

A

risk of NTD

133
Q

what is triple screen PLUS and what does it test for

A

aka quad screen, five screen

tests MSAFP, beta-hCG, estrol, and dimeric inhibin A and PAPP-A

abnormal triple screen plus most commonly associated with trisomy 21

134
Q

triple screen results suggesting risk for trisomy 21 -> low MSAFP, low estriol, elevated betas, __ dimeric inhibin A, __ PAPP-A

A

elevated dimeric inhibin A

low PAPP-A

135
Q

purpose of amniocentesis and best timing for it

A

for karyotyping, lung maturity, decrease of AFV (therapeutic)

best between 15-20w GA

136
Q

purpose and best timing for chorionic villus sampling

A

RAPID karyotyping

best performed between 10-12w GA

  • increased risk of complications if performed earlier
137
Q

cordocentesis method, purpose and timing

A

percutaneous umb blood sampling (PUBS)

from the umb vein

purpose for IMMEDIATE karyotyping and for detecting/treating blood disorders

best performed between 18-21w GA

138
Q

endoscope inserted cia cervix between amnion and chorion under sterile conditions with u/s guidance

A

embryoscopy

purpose to visualize embryo for dx of structural anomalies

up to 12w GA

139
Q

direct laparoscopic visualization of fetus with u/s guidance through maternal abdominal incision

A

fetoscopy

purpose is direct visualization of specific fetal anomalies

best done between 16-20w GA

3-5% fetal loss; highest rate of all screenings

140
Q

what is the fetal loss rate of u/s or MRI for fetal screening

A

0%

141
Q

aneuploidy

A

abnormal no. of chromosomes

142
Q

polyploidy

A

cells containing more than two sets of chromosomes

normal haploid number 2n

triploidy = 3n (69 chromosomes)
tetraploidy = 4n (92 c)

143
Q

chromosome no. of trisomy 21

A

47

presence of all or part of a third 21st chromosome

144
Q

chromosome no. of trisomy 18

A

47

presence of all or part of a third 18th chromosome

145
Q

chromosome no. of trisomy 13

A

47

presence of a third 13th chromosome

146
Q

chromosome no. of 45, X0

A

45

affects only females

part of all of one X chromosome is absent

147
Q

chromosome no. of triploidy

A

69

148
Q

trisomy 21 aka

A

down syndrome

149
Q

trisomy 18 aka

A

edwards syndrome

150
Q

trisomy 13 aka

A

patau syndrome

151
Q

45, X0 aka

A

turner syndrome

affects only females

part of all of one X chromosome is absent

152
Q

which is the least common aneuploidy manifestation

A

trisomy 13

153
Q

1st trimester sonographic marker for trisomy 21

A

increased nuchal translucense

> /=2.5 mm

measured from 11-14w GA

154
Q

MOST COMMON 2nd trimester sonographic markers of trisomy 21

A

nuchal fold thickening

absent/hypoplastic NB

short femur

echogenic bowel

EICF

pyelectasis

cardiac defects

155
Q

most common STRUCTURAL markers for trisomy 21

A

cardiac anomalies (septal defects)

duodenal atresia

mild ventriculomegaly

hydrops

156
Q

soft markers routinely evaluated for trisomy 21

A

choroid plexus cysts

EICF

pyelectasis

echogenic bowel

  • higher risk when associated with additional findings (not isolated)
157
Q

soft markers not routinely evaluated regarding trisomy 21

A

short humerus

shortened, absent NB

fifth finger clinodactyly

increased iliac angle

small ear length

sandal gap toes

158
Q

survival rate of trisomy 18 baby

A

few live past their first year

159
Q

most common sonographic markers for trisomy 18

A

IUGR

clenched hands

cardiac anomalies

choroid plexus cysts

NTD

hydrocephalus

omphalocele

diaphragmatic hernia

2VC

clubfeet

spina bifida

esophageal atresia

strawberry head

160
Q

which trisomy is associated with clenched hands

A

18

161
Q

which trisomy is associated with 5th digit clinodactyly

A

21

162
Q

most common sonographic markers associated with trisomy 13

A

cardiac anomalies
* EICF
* hypoplastic left heart

central nervous system anomalies
* holoprosencephaly +/- facial defects
* ventriculomegaly
* microcephaly

IUGR

abnormal hands/feet
* polydactyly
* clubfeet

2VC

163
Q

which trisomy is associated with polydactyly

A

13

164
Q

which trisomy is associated with holoprosencephaly

A

13

165
Q

which trisomy is associated with hydrocephalus

A

18

triploidy

166
Q

which trisomy is associated with esophageal atresia

A

18

167
Q

which trisomy is associated with spina bifida

A

18

168
Q

which trisomy is associated with clubfeet

A

18

169
Q

which trisomy is associated with strawberry shaped head

A

18

170
Q

turner syndrome characteristics

A

affects females

short statues
lymphadenopathy
low set ears
webbed neck
broad chest
low hairline
streak ovaries

98% abort spontaneously

171
Q

which aneuploidy is associated with webbed neck

A

turner syndrome

172
Q

which aneuploidy is associated with streak ovaries

A

turner syndrome

173
Q

most common sono markers for turner syndrome

A

cystic hygroma

non immune hydrops
* edema, PE, ascites

cardiac anomalies

horseshoe kidney

174
Q

which aneuploidy is associated with cystic hygroma

A

turner syndrome

175
Q

which aneuploidy is associated with horseshoe kidney

A

turner syndrome

176
Q

which aneuploidy is completely incompatible with life

A

triploidy

total of 69 chromosomes (rather than 46)

survivors to birth have severe IUGR and defects

177
Q

triploidy results from maternal or paternal source

A

paternal

partial mole continues to duplicate

178
Q

most common sonographic markers of triploidy

A

molar placenta (<20wGA)

severe asymmetric IUGR

abnormal hands and feet

heart anomalies

2VC

syndactyly

hydrocephalus

renal anomalies/hypoplasia

179
Q

which aneuploidy is associated with cleft palate/lip

A

13

180
Q

which aneuploidy is associated with micrognathia

A

18

13

181
Q

which aneuploidy is associated with talipes (clubfoot)

A

18

13

182
Q

which aneuploidy is associated with meningomyelocele

A

13

183
Q

which aneuploidy is associated with cerebellar hyperplasia

A

18

184
Q

which aneuploidy is associated with hydatidiform placental degeneration

A

triploidy

185
Q

which aneuploidy’s risk factor is not affected by increased maternal age

A

turner syndrome

186
Q

MSAFP lab values for trisomy 21 and 18

A

decreased

187
Q

estriol lab values for trisomy 21 and 18

A

decreased

188
Q

beta-hCG lab values for trisomy 21 and 18

A

increased for 21
decreased for 18

189
Q

dimeric inhibin A lab values for trisomy 21

A

double normal value (increased)

190
Q

PAPP-A lab values for trisomy 21

A

decreased

191
Q

which aneuploidy is associated with Dandy Walker malformation

A

18

192
Q

a normale u/s __ the likelihood of aneuploidy

A

reduces

193
Q

trisomy associated with alobar holoprosencephaly

A

13

only slight risk if isolated

194
Q

abnormal head shape that is too circular

A

brachycephaly

associated with trisomy 21

195
Q

which aneuploidy is associated with duodenal atresia

A

trisomy 21

196
Q

MCDK associated with which trisomy

A

18

197
Q

which aneuploidy associated with rocker bottom feet

A

18

198
Q

which aneuploidy presents with polyhydramnios and IUGR

A

18

199
Q

cause of unilateral renal agenesis

A

failure of one ureteric bud to develop and/or interact with the metanephrogenic blastema

**ipsilateral ureter may be absent

200
Q

“lying down adrenal” sign

A

unilateral renal agenesis

201
Q

bilateral renal agenesis aka

A

potter syndrome

caused by failure of both ureteric buds to develop and/or interact with metanephrogenic blastema

  • ureters may also be absent
202
Q

potter syndrome is lethal due to __

A

severe pulmonary hypoplasia

203
Q

state of amniotic fluid volume with bilat renal agenesis

A

severe oligohydramnios

  • by 20w GA
204
Q

what is potter facies

A

mild hypertelorism

flattening of nose

low-set ears

receding chin

205
Q

associated findings with bilat renal agenesis

A

potter facies
* mild hypertelorism
* flattening of nose
* low ears
* receding chin

dolichocephaly
*oblong

limb contractures
* clubfoot

206
Q

state of AFV with horseshoe kidney

A

normal bladder and AFV

207
Q

renal pyelectasis more common with __

A

males

208
Q

most common cause of abnormal renal pyelectasis

A

UPV obstruction

209
Q

renal pyelectasis aka

A

pelviectasis

210
Q

renal pyelectasis vs. hydronephrosis

A

pelviectasis - dilated renal pelvis only

pelviecaliectasis (hydro) - dilated pelvis AND CALYCES

211
Q

abnormal values of renal pyelectasis

A

< 20w = >4mm

> 20w = >5-10mm

3rd trimester = >10mm

212
Q

why might renal pyelectasis normalize after birth

A

progesterone levels decrease causing the muscular walls in ureters to relax and kidneys empty

213
Q

state of AFV with UNILATERAL UPJ obstruction

A

resulting hydro/pyelectasis

normal to mild POLYhydramnios

214
Q

state of AFV with BILAT UPJ obstruction

A

OLIGOHYDRAMNIOS
* mild to severe

bilat pyelectasis/ hydro

nonvisual of bladder

215
Q

renal cystic disease aka

A

potter SEQUENCE

216
Q

classifications of potter sequence

A

multicystic dysplastic kidney
MCDK
= potter type II

obstructive cystic renal dysplasia
CRD
= potter type IV

polycystic kidney disease
PKD
= potter types I & III

217
Q

potter type II aka

A

MCDK

renal cortex replaced by numerous cysts with absence of collecting system

malrotation

little, if any, parenchyma

218
Q

cause of MCDK

A

very early onset renal obstruction

219
Q

MCDK resembles

A

bunch of grapes

220
Q

what variation of potter type II is incompatible with life

A

bilateral MCDK

221
Q

state of ureter, bladder and AFV with MCDK

A

normal ureter
normal bladder
normal AFV if unilateral

  • oligohydramnios if bilat
222
Q

ddx of MCDK

A

severe hydro
* try to demonstrate if communicating or not

223
Q

which potter sequence is often associated with urethral obstruction

A

potter type IV

obstructive cystic renal dysplasia
CRD

224
Q

renal parenchymal response to obstruction

A

cortical thinning

increased echogenicity

cysts

small size

225
Q

sono features of CRD

A

(potter type IV)

pelviectasis/ hydro

+/- hyperechoic parenchyma
+/- noncommunicating cysts in cortex

contour usually normal (unlike MCDK)

226
Q

types of PKD

A

autosomal recessive
ARPKD
= potter type I

autosomal dominant
ADPKD
= potter type III

227
Q

‘infantile’ PKD aka

A

ARPKD

potter type I

228
Q

‘adult’ PKD aka

A

ADPKD

potter type III

229
Q

which PKD is always bilat

A

ARPKD

both kd enlarged and more echogenic

cysts often not seen due to their small nature

230
Q

normal kidney contour, increased echogenicity, enlarged bilat, pyramids not seen, severe oligohydramnios

A

ARPKD

231
Q

which congenital kidney disease morphology has cysts often not seen due to their small nature

A

ARPKD

232
Q

what is the expected state of AFV for ARPKD

A

severe oligohydramnios

bladder often not seen

233
Q

ddx for trisomy 13

A

Meckel syndrome

aka meckel-gruber

234
Q

syndrome associated with encephalocele, polydactyly, and some form of PKD

A

Meckel gruber syndrome

ddx trisomy 13

235
Q

which is the most common inherited kidney disease

A

ADPKD

always bilat

often no clinical signs until 30+ y of age

236
Q

sono features of ADPKD

A

similar to ARPKD; rarely seen in fetus

contour may be normal

pyramids seen within kidneys

AVF normal, bladder seen

dx requires ultraosund and DNA study

237
Q

what do all the letters stand for in VACTERL

A

vertebral anomalies

anal atresia

cardiac anomalies

tracheoEsophageal abnormalities

renal/urinary abnormalities

limb defect

238
Q

most common solid intrarenal fetal mass

A

mesoblastemic nephroma

239
Q

hydroureter aka

A

megaureter

ureterectasis

pathologically distended ureter

240
Q

causes for hydroureter

A

distal urinary obstruction

nonobstructive dilatation

reflux

241
Q

obstruction at junction of ureter and bladder, usually bilat

A

UPV obstruction

242
Q

causes for UPJ obstruction

A

congenital stenosis

ureterocele

243
Q

state of AFV with hydroureter if unilateral

A

normal bladder

normal AFV

244
Q

sono features of cloacal exstrophy

A

non visualization of bladder

soft tissue mass in lower abd anterior wall

omphalocele

spinal defects

245
Q

abnormally large bladder that does not empty and fill properly; most common cause is posterior urethral valves

A

megacystitis

246
Q

AFV expected with megacystitis

A

depends on severity

normal to oligo

247
Q

association with megacystitis

A

prune belly syndrome

248
Q

sono features of bladder outlet obstruction

A

megacystitis +/- wall thickening

bilateral hydroureters

bilateral renal pyelectasis/ hydro

oligohydramnios (severe will see pulmonary hypoplasia)

usually male

249
Q

most common cause for bladder outlet obstruction

A

posterior urethral valves in males

250
Q

AFV with severe bladder outlet obstruction

A

oligohydramnios

associated pulmonary hypoplasia; renal failure

251
Q

AFV with posterior urethral valves

A

normal

+/- oligo

252
Q

Eagle-Barrett syndrome aka

A

prune belly syndrome

253
Q

underdeveloped abdominal muscles, bilat cryptorchidism, abnormal urinary tract

A

prune belly syndrome
* eagle-barrett syndrome

associated with PUV in males and causes severe megacystitis, dilated ureters and hydronephrosis

254
Q

AFV associated with prune belly syndrome

A

oligohydramnios

255
Q

prolapse and cystic dilatation of distal ureteric mucosa into bladder

A

ureterocele

  • may block urethra
256
Q

sacculation of terminal ureter at insertion into bladder, distal to normal insertion

A

ectopic ureterocele

257
Q

bladder pathology associated with duplication of collecting system, hydroureter, and obstruction of upper pole of affected kidney

A

ectopic ureterocele

258
Q

ectopic ureterocele = ureter from upper pole inserts __ forming an ectopic ureterocele

A

distally from normal location in trigone

259
Q

shunt from fetal bladder to amniotic fluid for tx of fetal bladder outlet obstruction

A

vesicoamniotic shunt

260
Q

non-functioning bladder, AFV is __

A

decreased

261
Q

suspect __ when ascites is seen with oligohydramnios

A

obstruction and rupture of GU tract

  • may be urinary ascites or urinoma
  • rupture may be renal, ureteral, or vesicular
262
Q

hydrocele is usually a __ finding

A

physiological

  • resolves spontaneously in absence of other abnormalities
263
Q

urethral meatus of penis abnormally positioned

A

hypospadias

  • opens into VENTRAL surface of penile shaft proximal to normal location
264
Q
A