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Prenat Diagn. 2014 Dec;34(12):1139-45. doi: 10.1002/pd.4442. Epub 2014 Jul 31.

Nasal bone length: prenasal thickness ratio: a strong 2D ultrasound marker for Down syndrome.

Author information

1
MEDISONO Fetal and Adult Health Research Center, Szeged, Hungary; Department of Medical Genetics, University of Szeged, Szeged, Hungary.

Abstract

OBJECTIVES:

To evaluate the feasibility of incorporating two-dimensional ultrasound measurements of nasal bone length (NBL) and prenasal thickness (PT) into the second-trimester anomaly scan and to determine whether the NBL : PT ratio could help in differentiating euploid and Down syndrome fetuses.

METHOD:

Two-dimensional measurements of NBL and PT were obtained from the midsagittal plane of the fetal head at 14-28 weeks of gestation in a Caucasian population at risk for aneuploidy. The screening performances of NBL, PT, and the ratios NBL : PT and PT : NBL were analyzed in euploid (n = 1330) and Down syndrome (n = 33) fetuses.

RESULTS:

Nasal bone length and PT alone showed strong correlations with Down syndrome (sensitivity: 76% at 1.88% and 2.35% false positive rate, respectively). However, the NBL : PT ratio showed an even stronger correlation with Down syndrome (false positive rate: 0.9%, sensitivity: 97%). The mean NBL : PT ratio showed a gradual increase from 1.48 to 1.79 (a 21.2% increase) between 14 and 28 weeks of gestation.

CONCLUSION:

Two-dimensional ultrasound measurements of NBL and PT, particularly the NBL : PT ratio, are highly sensitive markers for Down syndrome fetuses.

PMID:
24966049
PMCID:
PMC4305193
DOI:
10.1002/pd.4442
[Indexed for MEDLINE]
Free PMC Article

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