ultrasound anomalies Flashcards

1
Q

non-immune hydrops

A

-any causes of fetal hydrous not caused by RBC alloimmunization
-1/1500-1/3800 births
+up to 35% discovered incidentally on ultrasound

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

hydrops

A

refers to abnormal fluid buildup in 2 or more locations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

ascites

A

fluid buildup in the abdomen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

cardiovascular hydrops

A
  • most common mechanism (17-35%)

- due to increased central venous pressure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

chromosomal abnormality associated hydrops

A
  • 7-16% of cases

- can be due to cardiac anomalies, lymphatic dysplasia abnormal myelopoeisis, etc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

infection associated hydrops

A
  • 5-7%
  • can be due to anemia, anoxia, endothelial cell damage, and increased capillary permeability
  • CMV, too, parvo, syphilis, herpes, rubella, coxsackie virus, leptospirosis, trypanosome cruzi
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

twin-twin transfusion associated hydrops

A
  • 3-10%

- due to hyper___emia and increased central venous pressure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

aneuploidy and hydrops

A
  • monosomy X (42-67% cases)
  • Trisomy 21 (23-30%)
  • Trisomy 13, 18, 12
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

syndromic hydrops

A
  • Noonan
  • Pena-Shokeir syndrome
  • myotonic dystrophy
  • multiple pterygium syndrome
  • skeletal dysplasias
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

pena-shokeir syndrome

A
  • caused by mutations of the DOK7 and RAPSN genes
  • can cause IUGR, joint contractures, pulmonary hypoplasia, and facial anomalies
  • also called fetal akinesia deformation sequence
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

metabolic conditions and hydrops

A
  • galactosialidosis
  • GM1 gangliosidosis
  • sialidosis
  • MPS IVA
  • Farber disease
  • most of these not evaluated prenatally, as they aren’t what we worry about most with hydrops
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

parvo pathogenesis

A

affects bone marrow by preferentially infecting and replicating inside erythroid cells
-see hand and neck depression
-incredibly anemic baby with hydrops starting 2-4w post-maternal infection
+usually starts with ascites
*10% risk of fetal hydrous after maternal infection (which is usually mild)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

parvo treatment

A

transfusion at 19-22w usually helps the fetal bone marrow recover and baby will be okay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

MCA doppler

A

looks at blood vessel in fetal brain to show how fast blood is being shunted and therefore how anemic the fetus is
+higher doppler values indicate more significant anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

PUBS

A

-used to be used to study hematocrit levels and find out if baby is anemic
-now used to transfuse following MCA
+use dense pellet of high crit irradiated O negative blood to transfuse

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

estimated fetal weight

A
  • BPD
  • HC
  • abdominal circumference
  • femur length
17
Q

PUBS risk

A
  • failure of procedure and continued anemia in fetus
  • ROM, preterm labor or delivery
  • typically done after 18w & before 34w to avoid problems
18
Q

ultrasound

A

screening method completed at different times in pregnancy to identify possible issues or differences, monitor growth and fluid levels as well as guide additional procedures and further care

19
Q

level II anatomy scan

A
  • typically done between 18-22w to allow for further follow-up and timing of results
  • in depth look at head, face, neck, chest, abdomen, spine, extremities and genitalia
20
Q

early anatomy

A

completed transvaginally around 14w for cases suspicious of abnormality or family history
-followed up by later scans

21
Q

intracardiac echogenic focus (EIF, IEF)

A
  • soft marker with possible increased risk for Down syndrome
  • identified commonly in left ventricle
  • sometimes not reported anymore because it does not impact function
  • ethnic variation-more common in Asian population
22
Q

pylectasis

A

-dilation of the renal pelvis
-more common in males
-can be indicative of a GU structural anomaly
+if greater than 4mm at anatomy followup at 28w-new cutoff 7mm
-slightly increased risk for Down syndrome, but less concerning if isolated

23
Q

absent/hypoplastic nasal bone

A

-echogenic line within the bridge of fetal nose
-significant risk of Down syndrome
+51x more likely, BUT can be familial and ethnic (if Caucasian could be 132x more likely, if Afro-Carribean only about 8.5x more likely)
+typically not associated with other conditions

24
Q

hypoplastic nasal bone cutoff

A

less than 5th percentile indicates abnormal

25
Q

echogenic bowel

A
  • increases risk for aneuploidy (LR=6), and CF
  • can be seen in cases of fetal infection (namely CMV)
  • can also be associated with bowel malformations or rupture as well as intra-amniotic bleeding
26
Q

CF risk with echogenic bowel

A

2% if parental carrier status unknown

27
Q

CPC incidence

A

-seen in 1% of all pregnancies and 50% of trisomy 18 pregnancies
+Tri18 LR=7
*however it is rare for Tri18 to only be seen with this finding

28
Q

CPC

A

-relatively common abnormality seen within fetal brain ventricles in area that makes CSF
-in the absence of a karyotypic abnormality there is no association with fetal abnormality or developmental problems
+often times NIPS is first line testing now
-rarely can look similar to intracranial hemorrhage

29
Q

increased nuchal fold

A
  • abnormal measurement at posterior fossa at 18-24w
  • increases risk for DS (LR=17-especially if found before 20w), cardiac anomalies, single gene disorders such as skeletal dysplasias, Noonan, multiple pterygium syndrome
  • fetal echo recommended as follow-up
30
Q

club foot

A
  • 1 in 1000 live births, typically isolated with good prognosis
  • can be related to positional factors (oligo, multiple gestation, uterine anomalies such as fibroids)
  • can be a sign of neurological, muscle or connective tissue disorders including >50 genetic conditions
31
Q

omphalocele

A
  • herniation of abdominal contents into umbilical cord
  • 50% risk of chromosome abnormality
  • increased need for c-section delivery
32
Q

gastroschisis

A

-intestines protrude into amniotic fluid without covering-typically to the right of cord
-usually sporadic and not due to karyotypic abnormality
+typically due to a vascular event that occurred
-seen more commonly in young mothers, particularly smokers
-usually prognosis is fine, some risk for IUFD, but fine if survive to birth-can sometimes need surgical resection

33
Q

skeletal dysplasias

A

-more than 300 types caused by single gene abnormalities
+makes pin-pointing type difficult prenatally, though some have characteristic features
+if detected in 1st or 2nd tri likely lethal, non-lethal present later or postnatally
-X-rays and autopsy can help determine recurrence risks

34
Q

identifying skeletal dysplasia on ultrasound

A

-measuring long bones (humerus & femur)
+on anatomy making sure these & digits are present
+if these are short or oddly shaped measure all 12
-looking at shape of the head
-measuring chest circumference/size

35
Q

preaxial extra digits

A

more concerning from genetics POV than post-axial which is more likely to be isolated or familial
-polydactly more common in AA populations and can be inherited in AD fashion

36
Q

clefting

A
  • 1/1000 live births

- typically isolated, but can be part of 300+ syndromes