The anatomy of nuchal translucency at 10-14 weeks gestation in fetuses with Trisomy 21

An incredible medical mystery

Elizabeth Nafziger, Joel Vilensky

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Nuchal translucency (NT) is a hypo-echoic region of subcutaneous fluid accumulation in the posterior neck at the level of the cervical spine between the skin and soft tissues found at 10-14 weeks gestation. This ultrasound finding is important because increased NT measurements place the fetus at increased risk for chromosomal and structural abnormalities. It is a fascinating phenomenon that displays the intersection of anatomy, development, and imaging. In addition, with the ever increasing use of ultrasound in anatomy, NT is a readily demonstrable example of how important ultrasound has become to the practice of medicine. Articles on NT were obtained from OVID database and reviewed for their contribution to an understanding of the anatomical basis of NT. Whereas it is well established that the ultrasound finding of increased NT is a sensitive marker for Trisomy 21 at 10-14 weeks gestation, why this phenomena occurs has yet to be explained. The basis of nuchal edema is most likely multifactorial, a combination of delayed or disturbed lymphangiogenesis, cardiac and vascular abnormalities, and abnormal extracellular matrix components. Further research on the development of the fetal head and neck related to lymphatic development and fluid regulation during 8-14 weeks gestation will enable a greater understanding of how and why increased NT occurs compared to what is currently known. This could lead to early intervention to manage some of the repercussions of Trisomy 21 and other abnormalities related to NT.

Original languageEnglish
Pages (from-to)353-359
Number of pages7
JournalClinical Anatomy
Volume27
Issue number3
DOIs
StatePublished - 2014

Fingerprint

Nuchal Translucency Measurement
Down Syndrome
Anatomy
Fetus
Pregnancy
Neck
Lymphangiogenesis
Chromosome Aberrations
Extracellular Matrix
Blood Vessels
Edema
Spine
Head
Medicine
Databases
Skin

Keywords

  • cardiac defect
  • chromosomal abnormality
  • fetus
  • lymphatic development
  • Trisomy 21

ASJC Scopus subject areas

  • Anatomy
  • Histology

Cite this

The anatomy of nuchal translucency at 10-14 weeks gestation in fetuses with Trisomy 21 : An incredible medical mystery. / Nafziger, Elizabeth; Vilensky, Joel.

In: Clinical Anatomy, Vol. 27, No. 3, 2014, p. 353-359.

Research output: Contribution to journalArticle

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