FETAL ABNORMALITIES

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Last updated 11:38 PM on 8/19/26
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39 Terms

1
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Acrania


<p></p>
2
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agenesis of corpus callosum

  • dilated 3rd ventricle

  • absent CSP

  • dilated occipital horn

  • outward angle of frontal and lateral horns (steer sign)


<ul><li><p>dilated 3rd ventricle </p></li><li><p>absent CSP</p></li><li><p>dilated occipital horn</p></li><li><p>outward angle of frontal and lateral horns (steer sign) </p></li></ul><p></p>
3
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arachnoid cyst

playing of cerebellum hemispheres

<p>playing of cerebellum hemispheres</p>
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arnold chiari type II

  • obliterated cisterna magna

  • banana cerebellum

  • ventriculomegaly

  • dilated 4th ventricle

  • lemon shaped head


<ul><li><p>obliterated cisterna magna </p></li><li><p>banana cerebellum </p></li><li><p>ventriculomegaly </p></li><li><p>dilated 4th ventricle </p></li><li><p>lemon shaped head </p></li></ul><p></p>
5
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dandy walker

  • splaying of cerebral hemispheres, partial or complete agenesis of vermis

  • ventriculomegaly

  • enlarged CM


<ul><li><p>splaying of cerebral hemispheres, partial or complete agenesis of vermis </p></li><li><p>ventriculomegaly </p></li><li><p>enlarged CM</p></li></ul><p></p>
6
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hydranencephaly

  • anechoic brain tissue (replaced by CSF)

  • not associated with any other anomalies

  • presence of falx, choroids can be displayed, brain stem spared


<ul><li><p>anechoic brain tissue (replaced by CSF) </p></li><li><p>not associated with any other anomalies</p></li><li><p>presence of falx, choroids can be displayed, brain stem spared</p></li></ul><p></p>
7
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hydrocephaly / ventriculomegaly

  • intracranial pressure vs none

  • caused by outflow obstruction

  • dangling choroid


<ul><li><p>intracranial pressure vs none </p></li><li><p>caused by outflow obstruction </p></li><li><p>dangling choroid</p></li></ul><p></p>
8
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holoprosencephaly

Alobar

  • large central ventricle

  • fused thalami

  • absent CSP, CC, falx, 3rd ventricle

  • normal cerebellum

  • cyclopia


Semilobar

  • large central ventricle

  • horns may be present


Lobar

  • two large lateral ventricles

  • absent CSP, CC


<p>Alobar</p><ul><li><p>large central ventricle </p></li><li><p>fused thalami </p></li><li><p>absent CSP, CC, falx, 3rd ventricle</p></li><li><p>normal cerebellum</p></li><li><p>cyclopia </p></li></ul><p></p><p>Semilobar </p><ul><li><p>large central ventricle </p></li><li><p>horns may be present</p></li></ul><p></p><p>Lobar </p><ul><li><p>two large lateral ventricles </p></li><li><p>absent CSP, CC</p></li></ul><p></p>
9
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lemon shape head

  • associated with spina bifida

  • bilateral indentation of frontal bones


<ul><li><p>associated with spina bifida</p></li><li><p>bilateral indentation of frontal bones</p></li></ul><p></p>
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microcephaly

overall reduction in brain size

  • small BPD and HC


<p>overall reduction in brain size </p><ul><li><p>small BPD and HC</p></li></ul><p></p>
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strawberry shape head

  • assciated with tri 18

  • flattened occiput diameter

  • narrowing of frontal skull


<ul><li><p>assciated with tri 18</p></li><li><p>flattened occiput diameter </p></li><li><p>narrowing of frontal skull</p></li></ul><p></p>
12
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anencephaly

failure of cephalic end of neural tube to close completely

  • m/c neural tube defect

  • absence of cranial vault, rudimentary brain tissue

  • bulging eyes (frog-like), macroglossia


<p>failure of cephalic end of neural tube to close completely </p><ul><li><p>m/c neural tube defect </p></li><li><p>absence of cranial vault, rudimentary brain tissue</p></li><li><p>bulging eyes (frog-like), macroglossia</p></li></ul><p></p>
13
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caudal regression

more common with diabetes

  • absent sacrum

  • fused pelvis

  • short femur


<p>more common with diabetes</p><ul><li><p>absent sacrum</p></li><li><p>fused pelvis </p></li><li><p>short femur </p></li></ul><p></p>
14
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encephalocele

  • presence of brain in a cranial protrusion (m/c occipital region)

  • normal AFP


<ul><li><p>presence of brain in a cranial protrusion (m/c occipital region)</p></li><li><p>normal AFP</p></li></ul><p></p>
15
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spina bifida

failure of neural tube to close completely

Occulta

  • defect covered by tissue

  • normal AFP

  • tuft of hair, dimple

  • rarely seen on US

Aperta

  • defect uncovered

  • elevated AFP

  • associated with encephalocele, banana sign, lemon shaped head


<p>failure of neural tube to close completely </p><p>Occulta </p><ul><li><p>defect covered by tissue </p></li><li><p>normal AFP </p></li><li><p>tuft of hair, dimple </p></li><li><p>rarely seen on US</p></li></ul><p>Aperta</p><ul><li><p>defect uncovered </p></li><li><p>elevated AFP </p></li><li><p>associated with encephalocele, banana sign, lemon shaped head </p></li></ul><p></p>
16
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cyclopia

single midline orbit

  • associated with

    • holoprosencephaly

    • trisomy 13

    • microcephaly

    • williams


<p>single midline orbit </p><ul><li><p>associated with </p><ul><li><p>holoprosencephaly </p></li><li><p>trisomy 13</p></li><li><p>microcephaly </p></li><li><p>williams </p></li></ul></li></ul><p></p>
17
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m/c facial abnoramlity

facial cleft

18
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hypertelorism

abnormally wide interocular distance

  • associated with

    • trisomy 18

    • noonan

    • medial cleft

    • anterior cephalocele


<p>abnormally wide interocular distance </p><ul><li><p>associated with</p><ul><li><p>trisomy 18 </p></li><li><p>noonan </p></li><li><p>medial cleft </p></li><li><p>anterior cephalocele</p></li></ul></li></ul><p></p>
19
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macroglossia

persistent protrusion of fetal tongue

  • associated with

    • beckwith-wiedemann

    • downs syndrome


<p>persistent protrusion of fetal tongue </p><ul><li><p>associated with </p><ul><li><p>beckwith-wiedemann</p></li><li><p>downs syndrome</p></li></ul></li></ul><p></p>
20
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micrognathia

small receding chin and lower lip

  • associated with tri 18


<p>small receding chin and lower lip </p><ul><li><p>associated with tri 18 </p></li></ul><p></p>
21
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cystic hygroma

developmental defect of lymphatic system

  • multiocular anechoic cervical mass

  • no cranial defect


<p>developmental defect of lymphatic system </p><ul><li><p>multiocular anechoic cervical mass </p></li><li><p>no cranial defect</p></li></ul><p></p>
22
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cystic adenomatoid malformation

abnormal formation of bronchial tree

  • pulmonary tissue replaced by cysts

  • mediastinal shift

  • intact diaphragm


<p>abnormal formation of bronchial tree</p><ul><li><p>pulmonary tissue replaced by cysts </p></li><li><p>mediastinal shift </p></li><li><p>intact diaphragm </p></li></ul><p></p>
23
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ectopia cordis

partial or complete displacement of heart outside of the thorax

<p>partial or complete displacement of heart outside of the thorax</p>
24
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Ebsteins anomaly

displacement of leaflets of tricuspid valve into rt ventricle

  • regurgitation

  • causing increase in size of right atrium


<p>displacement of leaflets of tricuspid valve into rt ventricle </p><ul><li><p>regurgitation </p></li><li><p>causing increase in size of right atrium</p></li></ul><p></p>
25
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diaphragmatic hernia

diaphragm fails to close

  • stomach or liver located in thorax

  • mediastinal shift

  • left sided more common


<p>diaphragm fails to close </p><ul><li><p>stomach or liver located in thorax </p></li><li><p>mediastinal shift </p></li><li><p>left sided more common</p></li></ul><p></p>
26
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tetralogy of fallot

  • VSD

  • overriding aorta

  • pulmonic stenosis

  • enlarged right ventricle


<ul><li><p>VSD</p></li><li><p>overriding aorta</p></li><li><p>pulmonic stenosis </p></li><li><p>enlarged right ventricle </p></li></ul><p></p>
27
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transposition of great vessels

  • aorta arises from the right ventricle

  • pulmonary artery arises from left ventricle


normal 4ch view, no crossing of tracts


<ul><li><p>aorta arises from the right ventricle </p></li><li><p>pulmonary artery arises from left ventricle</p></li></ul><p></p><p>normal 4ch view, no crossing of tracts</p><p></p>
28
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duodenal atresia

associated with trisomy 21

  • blockage of duodenum

  • dilated stomach and duodenum

    • double bubble sign

  • polyhydraminos


<p>associated with trisomy 21</p><ul><li><p>blockage of duodenum </p></li><li><p>dilated stomach and duodenum </p><ul><li><p>double bubble sign</p></li></ul></li><li><p>polyhydraminos </p></li></ul><p></p>
29
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esophageal atresia

malformation of foregut

  • associated with tracheoesophageal fistula

  • absent stomach


<p>malformation of foregut </p><ul><li><p>associated with tracheoesophageal fistula </p></li><li><p>absent stomach</p></li></ul><p></p>
30
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meconium ileus

dilated ileum filled with echogenic material

  • often associated with cystic firbrosis


<p>dilated ileum filled with echogenic material </p><ul><li><p>often associated with cystic firbrosis</p></li></ul><p></p>
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meconium peritonitis

abdominal calcifications

  • bowel perforation


<p>abdominal calcifications</p><ul><li><p>bowel perforation</p></li></ul><p></p>
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hydronephrosis

urinary tract obstruction

  • pelviectasis > 10mm


<p>urinary tract obstruction </p><ul><li><p>pelviectasis &gt; 10mm</p></li></ul><p></p>
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infantile polycystic disease

hyperechoic enlarged kidneys

  • bilateral disease

  • severe oligohydraminos, no bladder

  • lethal, recessive


<p>hyperechoic enlarged kidneys </p><ul><li><p>bilateral disease</p></li><li><p>severe oligohydraminos, no bladder</p></li><li><p>lethal, recessive</p></li></ul><p></p>
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posterior urethral valve obstruction

urine unable to pass through urethra due to membrane within posterior urethra

  • happens in males

  • overdistended bladder— key hole sign


<p>urine unable to pass through urethra due to membrane within posterior urethra</p><ul><li><p>happens in males </p></li><li><p>overdistended bladder— key hole sign</p></li></ul><p></p>
35
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Ureteropelvic junction obstruction

  • obstruciton of proximal ureter

  • m/c

  • hydronephrosis


<ul><li><p>obstruciton of proximal ureter </p></li><li><p>m/c </p></li><li><p>hydronephrosis </p></li></ul><p></p>
36
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achondrogenesis

lethal short limb dysplasia

  • type 2 is more common — thick ribs


  • bowing of long bones

  • short trunk

  • poor ossifications

  • small pelvis


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achondroplasia

most common benign skeletal dysplasia

  • abnormal cartilage deposits at long bone epiphysis

  • trident hand


<p>most common benign skeletal dysplasia </p><ul><li><p>abnormal cartilage deposits at long bone epiphysis </p></li><li><p>trident hand</p></li></ul><p></p>
38
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osteogenesis imperfecta

  • disorder of collagen production leading to brittle bones

  • type 2 is most lethal

  • bell shape chest, fractured bones


<ul><li><p>disorder of collagen production leading to brittle bones </p></li><li><p>type 2 is most lethal </p></li><li><p>bell shape chest, fractured bones</p></li></ul><p></p>
39
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thanatophoric dysplasia

m/c lethal skeletal dysplasia

  • severe rhizomelia, micromelia

  • cloverleaf skull

  • frontal bossing


<p>m/c lethal skeletal dysplasia </p><ul><li><p>severe rhizomelia, micromelia</p></li><li><p>cloverleaf skull</p></li><li><p>frontal bossing </p></li></ul><p></p>