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Related Experiment Videos

Nuchal translucency in the first trimester

B Hewitt1

  • 1Ultrasound Department, Royal Women's Hospital, Victoria, Australia.

The Australian & New Zealand Journal of Obstetrics & Gynaecology
|November 1, 1993
PubMed
Summary
This summary is machine-generated.

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First trimester nuchal translucency screening can identify fetal aneuploidy, particularly trisomy 21. Increased nuchal translucency thickness correlates with higher aneuploidy risk, with most normal cases resolving by the second trimester.

Area of Science:

  • Prenatal diagnosis
  • Fetal medicine
  • Genetics

Background:

  • First trimester ultrasound assessment for nuchal translucency (NT) is a common screening tool.
  • NT measurement is used to estimate the risk of fetal aneuploidy, such as trisomy 21.

Observation:

  • A review of fetuses with nuchal thickening or translucency detected in the first trimester was conducted.
  • Twenty-nine pregnancies were analyzed, with 12 (41%) exhibiting abnormal karyotypes.

Findings:

  • Trisomy 21 was the most frequent aneuploidy, identified in 5 fetuses.
  • A significant correlation was observed between increased NT thickness and a higher likelihood of aneuploidy.
  • In cases with normal karyotypes, 15 of 16 ongoing pregnancies showed complete resolution of NT by the second trimester.

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Implications:

  • First trimester NT screening is valuable for detecting fetal aneuploidy.
  • The degree of NT thickening is a key indicator of aneuploidy risk.
  • Resolution of NT in the second trimester in chromosomally normal fetuses suggests a favorable outcome, though rare cases like skeletal dysplasia can occur.