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Related Experiment Video

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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

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Nasal bone in prenatal trisomy 21 screening.

Anthony Shanks¹, Anthony Odibo

¹Maternal-Fetal Medicine, Washington University in St. Louis, St. Louis, MO, USA. shanksa@wudosis.wustl.edu

Obstetrical & Gynecological Survey

|December 31, 2009

Summary

Screening for fetal Down syndrome (trisomy 21) can be improved by evaluating the fetal nasal bone. This ultrasound marker shows promise for enhancing detection rates in prenatal screening strategies.

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Area of Science:

Prenatal diagnosis
Fetal medicine
Medical screening

Background:

Invasive diagnostic procedures for fetal chromosomal abnormalities carry risks.
Current screening recommendations emphasize offering tests to all pregnant women.
Debate exists regarding the optimal screening methods for pregnant women.

Purpose of the Study:

To review data on the utility of the fetal nasal bone as a marker for trisomy 21.
To assess the use of nasal bone assessment in first versus second trimester screening.
To explore future directions for incorporating nasal bone evaluation into screening strategies.

Main Methods:

Review of existing data on fetal nasal bone characteristics and Down syndrome.
Analysis of ultrasound markers for potential improvement in trisomy 21 detection.
Focus on mid-face hypoplasia and flattened nose as indicators.

Main Results:

Mid-face hypoplasia and a flattened nose are characteristic of Down syndrome.
The absence or hypoplasia of the fetal nasal bone can enhance trisomy 21 detection.
Data on nasal bone utility in first and second trimesters will be discussed.

Conclusions:

Fetal nasal bone assessment is a valuable tool for improving Down syndrome screening.
Further research is needed to optimize its incorporation into routine prenatal screening.
Ultrasound markers like the nasal bone offer potential to increase detection sensitivity and lower false positive rates.