Literature DB >> 21584886

Prenasal thickness-to-nasal bone length ratio: a strong and simple second- and third-trimester marker for trisomy 21.

E A P De Jong-Pleij1, F I Vos, L S M Ribbert, L R Pistorius, E Tromp, C M Bilardo.   

Abstract

OBJECTIVES: To study the ratio of prenasal thickness (PT) to nasal bone length (NBL) in normal and trisomy-21 fetuses in the second and third trimesters of pregnancy.
METHODS: The PT and NBL were measured retrospectively in 106 normal fetuses (in three-dimensional (3D) volumes) and in 30 fetuses with trisomy 21 (10 on two-dimensional (2D) images and 20 in 3D volumes).
RESULTS: In normal fetuses the mean PT and NBL increased between 15 and 33 weeks' gestation from 2.3 to 6.1 mm (r = 0.85, P < 0.001) and from 3.3 to 9.6 mm (r = 0.87, P < 0.001), respectively. The PT : NBL ratio was stable throughout gestation, with a mean of 0.61 (95% CI, 0.59-0.63; r = - 0.04, P = 0.7). The 5(th) and 95(th) percentiles were 0.48 and 0.80, respectively. In trisomy-21 fetuses the mean PT and NBL increased between 14 and 34 weeks from 3.0 to 9.2 mm (r = 0.86, P < 0.001) and from 1.9 to 7.8 mm (r = 0.85, P < 0.001), respectively. The PT : NBL ratio was significantly higher than in normal fetuses (P < 0.001) but also stable throughout gestation, with a mean of 1.50 (95% CI, 1.20-1.80; r = - 0.35, P = 0.07). Twenty-three (77%) of the 30 fetuses with trisomy 21 had a PT above the 95(th) percentile and 20 (67%) had an NBL below the 5(th) percentile. All the trisomy-21 fetuses had a PT : NBL ratio above the 95(th) percentile. When the 95(th) percentile of the PT : NBL ratio was used as a cut-off value the detection and false positive rates for trisomy 21 were 100 (95% CI, 89-100)% and 5 (95% CI, 2-11)%, respectively. The positive likelihood ratio was 21.2.
CONCLUSIONS: The PT : NBL ratio is stable in the second and third trimesters of pregnancy in both normal and trisomy-21 fetuses, but all trisomy-21 fetuses in this series had a PT : NBL ratio above the 95(th) percentile. The ratio is therefore a strong marker for trisomy 21.
Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

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Year:  2011        PMID: 21584886     DOI: 10.1002/uog.9047

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN: 0960-7692            Impact factor:   7.299


  5 in total

1.  Assessment of Midfacial Hypoplasia in Down Syndrome Fetuses - Validity of a Two-Line Approach and Introduction of a Novel Angle (Maxilla-Mandible-Nasion Angle).

Authors:  J Weichert; M Gembicki; J Ribbat-Idel; D R Hartge
Journal:  Ultrasound Int Open       Date:  2016-05

2.  Reference ranges for foetal nasal bone length, prenasal thickness, and interocular distance at 18 to 24 weeks' gestation in low-risk pregnancies.

Authors:  Ayşegül Altunkeser; M Kazım Körez
Journal:  BMC Pregnancy Childbirth       Date:  2017-12-12       Impact factor: 3.007

3.  Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population.

Authors:  Savitree Pranpanus; Kanokkarn Keatkongkaew; Manaphat Suksai
Journal:  BMC Pregnancy Childbirth       Date:  2022-01-11       Impact factor: 3.007

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

Authors:  Andrea Szabó; Károly Szili; János Tamás Szabó; János Sikovanyecz; Dóra Isaszegi; Emese Horváth; János Szabó
Journal:  Prenat Diagn       Date:  2014-07-31       Impact factor: 3.050

5.  A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.

Authors:  Adalgisa Cordisco; Elisabetta Pelo; Mariarosaria Di Tommaso; Roberto Biagiotti
Journal:  Mol Genet Genomic Med       Date:  2021-06-10       Impact factor: 2.183

  5 in total

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