What is the Difference Between Cystic Hygroma and Nuchal Translucency?

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Cystic hygroma and nuchal translucency are both fluid-filled spaces seen on fetal ultrasound, but they have distinct differences:

  • Cystic Hygroma:
  • A large single or multilocular fluid-filled cavity located in the nuchal region, behind and around the fetal neck, which can extend the length of the fetus.
  • Can be seen as early as an 11-week ultrasound.
  • Aneuploidy (chromosomal abnormalities) is present in 50% of cases.
  • Most commonly associated with Trisomy 21 (Down Syndrome), 45X, and Trisomy 18.
  • <20% of cases result in a healthy live-born infant at term.
  • Nuchal Translucency (NT):
  • A fluid-filled space normally seen behind the fetal neck on ultrasound performed in the first trimester.
  • A key component of fetal aneuploidy screening, where size measurement is used as a risk factor for genetic disorders.
  • Enlarged nuchal translucency is associated with cystic hygroma or mesenchymal edema.
  • Outcomes in nuchal translucency less than 3.5mm are compared with NT of 3.5mm or greater in first-trimester fetuses with cystic hygroma.

In summary, cystic hygroma is a large fluid-filled cavity that can extend the length of the fetus and is associated with chromosomal abnormalities, while nuchal translucency is a normal fluid-filled space seen behind the fetal neck on ultrasound, and its size measurement is used as a risk factor for genetic disorders.

Comparative Table: Cystic Hygroma vs Nuchal Translucency

Here is a table comparing the differences between cystic hygroma and nuchal translucency:

Cystic Hygroma Nuchal Translucency
Abnormal structure Normal structure
Birth defect that leads to formation of abnormal growth A collection of fluid under the skin behind the fetal neck
Appears on ultrasound as an area of sonolucency in the soft tissue of the neck Appears on ultrasound as a unilocular collection of nuchal fluid ≥ 3mm^3
Mainly located in the neck (75%), followed by axilla (20%), retroperitoneum, intraabdominal organs, limbs, bones, and mediastinum Not associated with the mentioned locations
Associated with lymphatic malformations and formed by fluid accumulation Not associated with lymphatic malformations
Thickness is usually ≥ 3 mm Thickness of the nuchal translucency is measured at its widest part

Cystic hygroma is a type of birth defect that appears as an abnormal growth on an infant, while nuchal translucency is a normal fluid-filled space seen behind the fetal neck on ultrasound. Although both structures appear in the fetal neck, cystic hygroma is an abnormal structure, whereas nuchal translucency is a normal structure.