Trisomy 18 - Edwards Syndrome

General Features
[more information]

Karyotype
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IUGR  

Decreased crown-rump length

Central Nervous System
  * Ventriculomegaly
  * Large cisterna magna
  * Dandy Walker Variant
  * Choroid plexus cyst ( 30% )

Genitourinary Anomalies
  * Urethrovesical obstruction
  * Renal agenesis / dysplasia
  * Horseshoe kidney
  * Ambiguous genitalia

  * Magacystics (first trimester)

Neck
  * Cystic hygroma
± non-immune hydrops
  * Nuchal fold (normal or increased).

Extremities
  * Limb reduction
  * Club feet
  * Rockerbottom feet
  * Overlapping fingers /  Clenched hands

* Radial club hand and radial ray deficiencies

* Flexion deformity of limbs

 

          Craniofacial Abnormalities
  * Low set ears
  * Micrognathia
  * Cleft lip or palate
  * Hypotelorism
  * Skull (normal, brachycephaly  or                

              strawberry skull).
  * Microphthalmia (80%).

  * Absent nasal bone.

- Gastrointestinal Anomalies
  * Esophageal atresia
  * Anorectal atresia

  * Omphalocele

  * Echogenic bowel
  * Diaphragmatic Hernia
 

Cardiac Defects (90-99%)
  * VSD
  * ASD
  * Fetal Heart Rate

Musculo-skeletal abnormalities

Single umbilical artery

Polyhydramnios / oligohydramnios

Umbilical cord pseudocyst

Hypoplastic umbilical artery

Umbilical artery aneurysm

Aneurysm of the umbilical vein

Persistence of the right umbilical vein

 

 

 

 

 

REFERENCES

  1. Museve NN, Alexander DJ, Teshima I et.al. Echocardiographic evaluation of the spectrum of cariac anomalies associated with trisomy 12 and trisomy 18. J An Coll Cardiol 1990; 15:673-677
  2. Jackson S, Porter H, Vyas S. Trisomy 18: first-trimester nuchal translucency with pathological correlation. Ultrasound Obstet Gynecol 1995; 5:55-56