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Nuchal thickness evolution in trisomy 18 fetuses.

A Borrell¹, M T Farré, M Echevarría

¹Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, Hospital Clinic, IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona Medical School, Barcelona, Catalonia, Spain.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology

|December 16, 2000

Summary

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Nuchal thickness in fetuses with trisomy 18 does not significantly change over time. Re-examination shows similar proportions of nuchal thickening, indicating stability in this marker for trisomy 18.

Area of Science:

Prenatal diagnosis
Fetal medicine
Genetics

Background:

Nuchal thickness is a key parameter in prenatal screening for chromosomal abnormalities.
Trisomy 18 (Edwards syndrome) is a serious genetic disorder with potential fetal manifestations.
Understanding the natural evolution of fetal markers is crucial for accurate diagnosis.

Purpose of the Study:

To evaluate the natural progression of nuchal thickness in fetuses diagnosed with trisomy 18.
To determine if nuchal thickness measurements change significantly over serial assessments during pregnancy.

Main Methods:

Serial nuchal thickness measurements were taken in 17 fetuses with trisomy 18 between 10 and 20 weeks of gestation.
Measurements were standardized using standard deviations (SD) for gestational age.

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Clinically significant thickening was defined as >2.5 SD.

Main Results:

Initial sensitivity for trisomy 18 decreased from 66% (10-13 weeks) to 38% (14-16 weeks).
Serial measurements showed a non-significant mean increase of 0.2 SD after correction for gestational age.
Nuchal thickening remained stable in 76% of cases upon re-examination.

Conclusions:

Nuchal thickening in trisomy 18 fetuses demonstrates relative stability over serial assessments.
The proportion of fetuses with nuchal thickening did not significantly change between initial and re-examinations.
These findings contribute to understanding the natural history of ultrasound markers in trisomy 18.